UniProtKB - Q14654 (KCJ11_HUMAN)
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- BLAST>sp|Q14654|KCJ11_HUMAN ATP-sensitive inward rectifier potassium channel 11 OS=Homo sapiens OX=9606 GN=KCNJ11 PE=1 SV=2 MLSRKGIIPEEYVLTRLAEDPAEPRYRARQRRARFVSKKGNCNVAHKNIREQGRFLQDVF TTLVDLKWPHTLLIFTMSFLCSWLLFAMAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSA FLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCIFMKTAQAHRRAET LIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPM ENGVGGNSIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQA RTSYLADEILWGQRFVPIVAEEDGRYSVDYSKFGNTIKVPTPLCTARQLDEDHSLLEALT LASARGPLRKRSVPMAKAKPKFSISPDSLS
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Protein
ATP-sensitive inward rectifier potassium channel 11
Gene
KCNJ11
Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:
Annotation score:5 out of 5
<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>Select a section on the left to see content.
<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni
This receptor is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium (By similarity). Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with ABCC9. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation.By similarity3 Publications
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.5"Reconstituted human cardiac KATP channels: functional identity with the native channels from the sarcolemma of human ventricular cells."
Babenko A.P., Gonzalez G., Aguilar-Bryan L., Bryan J.
Circ. Res. 83:1132-1143(1998) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, INTERACTION WITH ABCC9. - Ref.12"A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit."
Tammaro P., Ashcroft F.M.
J. Physiol. (Lond.) 584:743-753(2007) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, CHARACTERIZATION OF VARIANT PNDM ILE-333, INTERACTION WITH ABCC9. - Ref.15"Conserved functional consequences of disease-associated mutations in the slide-helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel."
Cooper P.E., McClenaghan C., Chen X., Stary-Weinzinger A., Nichols C.G.
J. Biol. Chem. 292:17387-17398(2017) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, CHARACTERIZATION OF VARIANT PNDM LEU-64, MUTAGENESIS OF VAL-64.
Sites
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei | 160 | Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesiumBy similarity | 1 |
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni
- ankyrin binding Source: BHF-UCL <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactioni
- ATP-activated inward rectifier potassium channel activity Source: BHF-UCL
- ATP binding Source: BHF-UCL <p>Inferred from Sequence or Structural Similarity <br />Used for any analysis based on sequence alignment, structure comparison, or evaluation of sequence features such as composition.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#iss">GO evidence code guide</a></p> Inferred from sequence or structural similarityi
- heat shock protein binding Source: Ensembl
- ion channel binding Source: BHF-UCL <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactioni
- potassium ion binding Source: BHF-UCL <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
- protein C-terminus binding Source: Ensembl
- voltage-gated potassium channel activity Source: BHF-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi
- cellular response to glucose stimulus Source: Ensembl
- cellular response to nicotine Source: Ensembl
- cellular response to tumor necrosis factor Source: Ensembl
- glucose metabolic process Source: BHF-UCL <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- negative regulation of insulin secretion Source: BHF-UCL <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- nervous system process Source: BHF-UCL <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- positive regulation of cation channel activity Source: Ensembl
- positive regulation of protein localization to plasma membrane Source: Ensembl
- potassium ion import Source: BHF-UCL
- potassium ion transmembrane transport Source: BHF-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- regulation of insulin secretion Source: BHF-UCL <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- regulation of membrane potential Source: BHF-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- response to ATP Source: BHF-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- response to drug Source: BHF-UCL <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- response to estradiol Source: Ensembl
- response to ischemia Source: Ensembl
- response to testosterone Source: Ensembl
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi
| Molecular function | Ion channel, Voltage-gated channel |
| Biological process | Ion transport, Potassium transport, Transport |
| Ligand | Potassium |
Enzyme and pathway databases
Reactome - a knowledgebase of biological pathways and processes More...Reactomei | R-HSA-1296025 ATP sensitive Potassium channels R-HSA-382556 ABC-family proteins mediated transport R-HSA-422356 Regulation of insulin secretion R-HSA-5578775 Ion homeostasis R-HSA-5683177 Defective ABCC8 can cause hypoglycemias and hyperglycemias |
SignaLink: a signaling pathway resource with multi-layered regulatory networks More...SignaLinki | Q14654 |
SIGNOR Signaling Network Open Resource More...SIGNORi | Q14654 |
Protein family/group databases
Transport Classification Database More...TCDBi | 1.A.2.1.17 the inward rectifier k(+) channel (irk-c) family |
<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi | Recommended name: ATP-sensitive inward rectifier potassium channel 11Alternative name(s): IKATP Inward rectifier K(+) channel Kir6.2 Potassium channel, inwardly rectifying subfamily J member 11 |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi | Name:KCNJ11 |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>Organismi | Homo sapiens (Human) |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri | 9606 [NCBI] |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineagei | cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi |
|
Organism-specific databases
Eukaryotic Pathogen Database Resources More...EuPathDBi | HostDB:ENSG00000187486.5 |
Human Gene Nomenclature Database More...HGNCi | HGNC:6257 KCNJ11 |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 600937 gene |
neXtProt; the human protein knowledge platform More...neXtProti | NX_Q14654 |
<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi
Other locations
Cytosol
- cytosol Source: Ensembl
Endoplasmic reticulum
- endoplasmic reticulum Source: Ensembl
Endosome
- endosome Source: Ensembl
Mitochondrion
- mitochondrion Source: Ensembl
Nucleus
- nuclear envelope Source: Ensembl
Plasma Membrane
- axolemma Source: Ensembl
- integral component of plasma membrane Source: ProtInc <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
- inward rectifying potassium channel Source: BHF-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- plasma membrane Source: BHF-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- T-tubule Source: BHF-UCL
Other locations
- acrosomal vesicle Source: Ensembl
- cell body fiber Source: Ensembl
- intercalated disc Source: Ensembl
- myelin sheath Source: Ensembl
- neuronal cell body Source: Ensembl
Topology
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini | 1 – 68 | CytoplasmicBy similarityAdd BLAST | 68 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei | 69 – 93 | Helical; Name=M1By similarityAdd BLAST | 25 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini | 94 – 116 | ExtracellularBy similarityAdd BLAST | 23 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei | 117 – 128 | Helical; Pore-forming; Name=H5By similarityAdd BLAST | 12 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei | 129 – 135 | Pore-formingBy similarity | 7 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini | 136 – 144 | ExtracellularBy similarity | 9 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei | 145 – 166 | Helical; Name=M2By similarityAdd BLAST | 22 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini | 167 – 390 | CytoplasmicBy similarityAdd BLAST | 224 |
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti
Membrane<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi
<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei
Familial hyperinsulinemic hypoglycemia 2 (HHF2)12 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.8"Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations."
Pinney S.E., MacMullen C., Becker S., Lin Y.W., Hanna C., Thornton P., Ganguly A., Shyng S.L., Stanley C.A.
J. Clin. Invest. 118:2877-2886(2008) [PubMed] [Europe PMC] [Abstract]Cited for: INVOLVEMENT IN HHF2, VARIANTS HHF2 LEU-55; ARG-156 AND GLU-204. - Ref.9"Sar1-GTPase-dependent ER exit of KATP channels revealed by a mutation causing congenital hyperinsulinism."
Taneja T.K., Mankouri J., Karnik R., Kannan S., Smith A.J., Munsey T., Christesen H.B., Beech D.J., Sivaprasadarao A.
Hum. Mol. Genet. 18:2400-2413(2009) [PubMed] [Europe PMC] [Abstract]Cited for: INVOLVEMENT IN HHF2, VARIANT HHF2 LYS-282, CHARACTERIZATION OF VARIANT HHF2 LYS-282. - Ref.16"Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy."
Thomas P.M., Cote G.J., Hallman D.M., Mathew P.M.
Am. J. Hum. Genet. 56:416-421(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HHF2 PRO-147. - Ref.17"Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy."
Thomas P., Ye Y., Lightner E.
Hum. Mol. Genet. 5:1809-1812(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HHF2 PRO-147. - Ref.20"Molecular biology of adenosine triphosphate-sensitive potassium channels."
Aguilar-Bryan L., Bryan J.
Endocr. Rev. 20:101-135(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HHF2 ARG-91. - Ref.22"Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism."
Huopio H., Jaeaeskelaeinen J., Komulainen J., Miettinen R., Kaerkkaeinen P., Laakso M., Tapanainen P., Voutilainen R., Otonkoski T.
J. Clin. Endocrinol. Metab. 87:4502-4507(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HHF2 ASN-67. - Ref.26"Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity."
Tornovsky S., Crane A., Cosgrove K.E., Hussain K., Lavie J., Heyman M., Nesher Y., Kuchinski N., Ben-Shushan E., Shatz O., Nahari E., Potikha T., Zangen D., Tenenbaum-Rakover Y., de Vries L., Argente J., Gracia R., Landau H. , Eliakim A., Lindley K., Dunne M.J., Aguilar-Bryan L., Glaser B.
J. Clin. Endocrinol. Metab. 89:6224-6234(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HHF2 LEU-254, CHARACTERIZATION OF VARIANT HHF2 LEU-254. - Ref.29"Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy."
Ohkubo K., Nagashima M., Naito Y., Taguchi T., Suita S., Okamoto N., Fujinaga H., Tsumura K., Kikuchi K., Ono J.
Clin. Endocrinol. (Oxf.) 62:458-465(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HHF2 HIS-34, VARIANTS LYS-23; SER-148 AND VAL-337. - Ref.32"Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes."
Henwood M.J., Kelly A., MacMullen C., Bhatia P., Ganguly A., Thornton P.S., Stanley C.A.
J. Clin. Endocrinol. Metab. 90:789-794(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HHF2 ASP-101; ALA-134; LEU-136; LEU-266 AND HIS-301. - Ref.34"Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function."
Marthinet E., Bloc A., Oka Y., Tanizawa Y., Wehrle-Haller B., Bancila V., Dubuis J.-M., Philippe J., Schwitzgebel V.M.
J. Clin. Endocrinol. Metab. 90:5401-5406(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HHF2 ARG-259, CHARACTERIZATION OF VARIANT HHF2 ARG-259. - Ref.38"A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels."
Lin Y.-W., MacMullen C., Ganguly A., Stanley C.A., Shyng S.-L.
J. Biol. Chem. 281:3006-3012(2006) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HHF2 LEU-55, CHARACTERIZATION OF VARIANT HHF2 LEU-55. - Ref.39"Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism."
Suchi M., MacMullen C.M., Thornton P.S., Adzick N.S., Ganguly A., Ruchelli E.D., Stanley C.A.
Mod. Pathol. 19:122-129(2006) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HHF2 ASP-40; ASP-101; PRO-116; LEU-136 AND HIS-301.
Ref.8
"Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations."
Pinney S.E., MacMullen C., Becker S., Lin Y.W., Hanna C., Thornton P., Ganguly A., Shyng S.L., Stanley C.A.
J. Clin. Invest. 118:2877-2886(2008) [PubMed] [Europe PMC] [Abstract]
Pinney S.E., MacMullen C., Becker S., Lin Y.W., Hanna C., Thornton P., Ganguly A., Shyng S.L., Stanley C.A.
J. Clin. Invest. 118:2877-2886(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN HHF2, VARIANTS HHF2 LEU-55; ARG-156 AND GLU-204.
Ref.9
"Sar1-GTPase-dependent ER exit of KATP channels revealed by a mutation causing congenital hyperinsulinism."
Taneja T.K., Mankouri J., Karnik R., Kannan S., Smith A.J., Munsey T., Christesen H.B., Beech D.J., Sivaprasadarao A.
Hum. Mol. Genet. 18:2400-2413(2009) [PubMed] [Europe PMC] [Abstract]
Taneja T.K., Mankouri J., Karnik R., Kannan S., Smith A.J., Munsey T., Christesen H.B., Beech D.J., Sivaprasadarao A.
Hum. Mol. Genet. 18:2400-2413(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN HHF2, VARIANT HHF2 LYS-282, CHARACTERIZATION OF VARIANT HHF2 LYS-282.
Ref.16
"Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy."
Thomas P.M., Cote G.J., Hallman D.M., Mathew P.M.
Am. J. Hum. Genet. 56:416-421(1995) [PubMed] [Europe PMC] [Abstract]
Thomas P.M., Cote G.J., Hallman D.M., Mathew P.M.
Am. J. Hum. Genet. 56:416-421(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HHF2 PRO-147.
Ref.17
"Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy."
Thomas P., Ye Y., Lightner E.
Hum. Mol. Genet. 5:1809-1812(1996) [PubMed] [Europe PMC] [Abstract]
Thomas P., Ye Y., Lightner E.
Hum. Mol. Genet. 5:1809-1812(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HHF2 PRO-147.
Ref.20
"Molecular biology of adenosine triphosphate-sensitive potassium channels."
Aguilar-Bryan L., Bryan J.
Endocr. Rev. 20:101-135(1999) [PubMed] [Europe PMC] [Abstract]
Aguilar-Bryan L., Bryan J.
Endocr. Rev. 20:101-135(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HHF2 ARG-91.
Ref.22
"Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism."
Huopio H., Jaeaeskelaeinen J., Komulainen J., Miettinen R., Kaerkkaeinen P., Laakso M., Tapanainen P., Voutilainen R., Otonkoski T.
J. Clin. Endocrinol. Metab. 87:4502-4507(2002) [PubMed] [Europe PMC] [Abstract]
Huopio H., Jaeaeskelaeinen J., Komulainen J., Miettinen R., Kaerkkaeinen P., Laakso M., Tapanainen P., Voutilainen R., Otonkoski T.
J. Clin. Endocrinol. Metab. 87:4502-4507(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HHF2 ASN-67.
Ref.26
"Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity."
Tornovsky S., Crane A., Cosgrove K.E., Hussain K., Lavie J., Heyman M., Nesher Y., Kuchinski N., Ben-Shushan E., Shatz O., Nahari E., Potikha T., Zangen D., Tenenbaum-Rakover Y., de Vries L., Argente J., Gracia R., Landau H. , Eliakim A., Lindley K., Dunne M.J., Aguilar-Bryan L., Glaser B.
J. Clin. Endocrinol. Metab. 89:6224-6234(2004) [PubMed] [Europe PMC] [Abstract]
Tornovsky S., Crane A., Cosgrove K.E., Hussain K., Lavie J., Heyman M., Nesher Y., Kuchinski N., Ben-Shushan E., Shatz O., Nahari E., Potikha T., Zangen D., Tenenbaum-Rakover Y., de Vries L., Argente J., Gracia R., Landau H. , Eliakim A., Lindley K., Dunne M.J., Aguilar-Bryan L., Glaser B.
J. Clin. Endocrinol. Metab. 89:6224-6234(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HHF2 LEU-254, CHARACTERIZATION OF VARIANT HHF2 LEU-254.
Ref.29
"Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy."
Ohkubo K., Nagashima M., Naito Y., Taguchi T., Suita S., Okamoto N., Fujinaga H., Tsumura K., Kikuchi K., Ono J.
Clin. Endocrinol. (Oxf.) 62:458-465(2005) [PubMed] [Europe PMC] [Abstract]
Ohkubo K., Nagashima M., Naito Y., Taguchi T., Suita S., Okamoto N., Fujinaga H., Tsumura K., Kikuchi K., Ono J.
Clin. Endocrinol. (Oxf.) 62:458-465(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HHF2 HIS-34, VARIANTS LYS-23; SER-148 AND VAL-337.
Ref.32
"Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes."
Henwood M.J., Kelly A., MacMullen C., Bhatia P., Ganguly A., Thornton P.S., Stanley C.A.
J. Clin. Endocrinol. Metab. 90:789-794(2005) [PubMed] [Europe PMC] [Abstract]
Henwood M.J., Kelly A., MacMullen C., Bhatia P., Ganguly A., Thornton P.S., Stanley C.A.
J. Clin. Endocrinol. Metab. 90:789-794(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HHF2 ASP-101; ALA-134; LEU-136; LEU-266 AND HIS-301.
Ref.34
"Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function."
Marthinet E., Bloc A., Oka Y., Tanizawa Y., Wehrle-Haller B., Bancila V., Dubuis J.-M., Philippe J., Schwitzgebel V.M.
J. Clin. Endocrinol. Metab. 90:5401-5406(2005) [PubMed] [Europe PMC] [Abstract]
Marthinet E., Bloc A., Oka Y., Tanizawa Y., Wehrle-Haller B., Bancila V., Dubuis J.-M., Philippe J., Schwitzgebel V.M.
J. Clin. Endocrinol. Metab. 90:5401-5406(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HHF2 ARG-259, CHARACTERIZATION OF VARIANT HHF2 ARG-259.
Ref.38
"A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels."
Lin Y.-W., MacMullen C., Ganguly A., Stanley C.A., Shyng S.-L.
J. Biol. Chem. 281:3006-3012(2006) [PubMed] [Europe PMC] [Abstract]
Lin Y.-W., MacMullen C., Ganguly A., Stanley C.A., Shyng S.-L.
J. Biol. Chem. 281:3006-3012(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HHF2 LEU-55, CHARACTERIZATION OF VARIANT HHF2 LEU-55.
Ref.39
"Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism."
Suchi M., MacMullen C.M., Thornton P.S., Adzick N.S., Ganguly A., Ruchelli E.D., Stanley C.A.
Mod. Pathol. 19:122-129(2006) [PubMed] [Europe PMC] [Abstract]
Suchi M., MacMullen C.M., Thornton P.S., Adzick N.S., Ganguly A., Ruchelli E.D., Stanley C.A.
Mod. Pathol. 19:122-129(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HHF2 ASP-40; ASP-101; PRO-116; LEU-136 AND HIS-301.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionMost common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur.
See also OMIM:601820| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031329 | 34 | R → H in HHF2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031330 | 40 | G → D in HHF2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031335 | 55 | F → L in HHF2; does neither affect channel expression nor channel response to MgADP. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026506 | 67 | K → N in HHF2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026507 | 91 | W → R in HHF2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031336 | 101 | A → D in HHF2. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031337 | 116 | S → P in HHF2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031338 | 134 | G → A in HHF2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031339 | 136 | R → L in HHF2. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_001557 | 147 | L → P in HHF2. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_073683 | 156 | G → R in HHF2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_073685 | 204 | D → E in HHF2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026513 | 254 | P → L in HHF2; impairs trafficking of the mutant channel. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031345 | 259 | H → R in HHF2; impairs trafficking and abolishes channel function. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031346 | 266 | P → L in HHF2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_073687 | 282 | E → K in HHF2; prevents the ER export and surface expression of the channel. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031347 | 301 | R → H in HHF2. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Diabetes mellitus, permanent neonatal (PNDM)13 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.7"A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain."
Shimomura K., Horster F., de Wet H., Flanagan S.E., Ellard S., Hattersley A.T., Wolf N.I., Ashcroft F., Ebinger F.
Neurology 69:1342-1349(2007) [PubMed] [Europe PMC] [Abstract]Cited for: INVOLVEMENT IN PNDM, VARIANT PNDM LEU-167, CHARACTERIZATION OF VARIANT PNDM LEU-167. - Ref.10"Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms."
Maennikkoe R., Jefferies C., Flanagan S.E., Hattersley A., Ellard S., Ashcroft F.M.
Hum. Mol. Genet. 19:963-972(2010) [PubMed] [Europe PMC] [Abstract]Cited for: INVOLVEMENT IN PNDM, VARIANTS PNDM TYR-60 AND LEU-64, CHARACTERIZATION OF VARIANTS PNDM TYR-60 AND LEU-64. - Ref.12"A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit."
Tammaro P., Ashcroft F.M.
J. Physiol. (Lond.) 584:743-753(2007) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, CHARACTERIZATION OF VARIANT PNDM ILE-333, INTERACTION WITH ABCC9. - Ref.15"Conserved functional consequences of disease-associated mutations in the slide-helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel."
Cooper P.E., McClenaghan C., Chen X., Stary-Weinzinger A., Nichols C.G.
J. Biol. Chem. 292:17387-17398(2017) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, CHARACTERIZATION OF VARIANT PNDM LEU-64, MUTAGENESIS OF VAL-64. - Ref.23"Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy."
Sagen J.V., Raeder H., Hathout E., Shehadeh N., Gudmundsson K., Baevre H., Abuelo D., Phornphutkul C., Molnes J., Bell G.I., Gloyn A.L., Hattersley A.T., Molven A., Soevik O., Njoelstad P.R.
Diabetes 53:2713-2718(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PNDM VAL-35; MET-59; HIS-201; CYS-330 AND ILE-333. - Ref.24"Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients."
Vaxillaire M., Populaire C., Busiah K., Cave H., Gloyn A.L., Hattersley A.T., Czernichow P., Froguel P., Polak M.
Diabetes 53:2719-2722(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PNDM LEU-35; MET-59; CYS-201; HIS-201; LYS-322 AND CYS-330. - Ref.25"Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel."
Gloyn A.L., Cummings E.A., Edghill E.L., Harries L.W., Scott R., Costa T., Temple I.K., Hattersley A.T., Ellard S.
J. Clin. Endocrinol. Metab. 89:3932-3935(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PNDM CYS-201. - Ref.27"Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes."
Gloyn A.L., Pearson E.R., Antcliff J.F., Proks P., Bruining G.J., Slingerland A.S., Howard N., Srinivasan S., Silva J.M.C.L., Molnes J., Edghill E.L., Frayling T.M., Temple I.K., Mackay D., Shield J.P.H., Sumnik Z., van Rhijn A., Wales J.K.H. , Clark P., Gorman S., Aisenberg J., Ellard S., Njoelstad P.R., Ashcroft F.M., Hattersley A.T.
N. Engl. J. Med. 350:1838-1849(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PNDM ARG-52; GLY-59; MET-59; HIS-201; CYS-201 AND LEU-296, CHARACTERIZATION OF VARIANT PNDM HIS-201. - Ref.28"Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features."
Proks P., Antcliff J.F., Lippiat J., Gloyn A.L., Hattersley A.T., Ashcroft F.M.
Proc. Natl. Acad. Sci. U.S.A. 101:17539-17544(2004) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS PNDM ARG-52; GLY-59 AND CYS-201. - Ref.31"KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes."
The early onset diabetes study group of the Italian society of pediatric endocrinology and diabetes
Massa O., Iafusco D., D'Amato E., Gloyn A.L., Hattersley A.T., Pasquino B., Tonini G., Dammacco F., Zanette G., Meschi F., Porzio O., Bottazzo G., Crino A., Lorini R., Cerutti F., Vanelli M., Barbetti F.
Hum. Mutat. 25:22-27(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PNDM PRO-50; MET-59; ARG-170; ASN-170 AND CYS-201. - Ref.35"Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects."
Shimomura K., Girard C.A.J., Proks P., Nazim J., Lippiat J.D., Cerutti F., Lorini R., Ellard S., Hattersely A.T., Barbetti F., Ashcroft F.M.
Diabetes 55:1705-1712(2006) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PNDM GLN-50 AND PRO-50, CHARACTERIZATION OF VARIANTS PNDM GLN-50 AND PRO-50. - Ref.36"Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype."
Flanagan S.E., Edghill E.L., Gloyn A.L., Ellard S., Hattersley A.T.
Diabetologia 49:1190-1197(2006) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PNDM TYR-46; GLN-50; ARG-52; ASP-53; GLY-59; MET-59; PRO-164; TYR-166; THR-170; CYS-201; HIS-201; LEU-201; LEU-296 AND SER-330. - Ref.40"Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers."
Stanik J., Gasperikova D., Paskova M., Barak L., Javorkova J., Jancova E., Ciljakova M., Hlava P., Michalek J., Flanagan S.E., Pearson E., Hattersley A.T., Ellard S., Klimes I.
J. Clin. Endocrinol. Metab. 92:1276-1282(2007) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PNDM TYR-46; PRO-164 AND HIS-201.
Ref.7
"A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain."
Shimomura K., Horster F., de Wet H., Flanagan S.E., Ellard S., Hattersley A.T., Wolf N.I., Ashcroft F., Ebinger F.
Neurology 69:1342-1349(2007) [PubMed] [Europe PMC] [Abstract]
Shimomura K., Horster F., de Wet H., Flanagan S.E., Ellard S., Hattersley A.T., Wolf N.I., Ashcroft F., Ebinger F.
Neurology 69:1342-1349(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN PNDM, VARIANT PNDM LEU-167, CHARACTERIZATION OF VARIANT PNDM LEU-167.
Ref.10
"Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms."
Maennikkoe R., Jefferies C., Flanagan S.E., Hattersley A., Ellard S., Ashcroft F.M.
Hum. Mol. Genet. 19:963-972(2010) [PubMed] [Europe PMC] [Abstract]
Maennikkoe R., Jefferies C., Flanagan S.E., Hattersley A., Ellard S., Ashcroft F.M.
Hum. Mol. Genet. 19:963-972(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN PNDM, VARIANTS PNDM TYR-60 AND LEU-64, CHARACTERIZATION OF VARIANTS PNDM TYR-60 AND LEU-64.
Ref.12
"A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit."
Tammaro P., Ashcroft F.M.
J. Physiol. (Lond.) 584:743-753(2007) [PubMed] [Europe PMC] [Abstract]
Tammaro P., Ashcroft F.M.
J. Physiol. (Lond.) 584:743-753(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, CHARACTERIZATION OF VARIANT PNDM ILE-333, INTERACTION WITH ABCC9.
Ref.15
"Conserved functional consequences of disease-associated mutations in the slide-helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel."
Cooper P.E., McClenaghan C., Chen X., Stary-Weinzinger A., Nichols C.G.
J. Biol. Chem. 292:17387-17398(2017) [PubMed] [Europe PMC] [Abstract]
Cooper P.E., McClenaghan C., Chen X., Stary-Weinzinger A., Nichols C.G.
J. Biol. Chem. 292:17387-17398(2017) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, CHARACTERIZATION OF VARIANT PNDM LEU-64, MUTAGENESIS OF VAL-64.
Ref.23
"Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy."
Sagen J.V., Raeder H., Hathout E., Shehadeh N., Gudmundsson K., Baevre H., Abuelo D., Phornphutkul C., Molnes J., Bell G.I., Gloyn A.L., Hattersley A.T., Molven A., Soevik O., Njoelstad P.R.
Diabetes 53:2713-2718(2004) [PubMed] [Europe PMC] [Abstract]
Sagen J.V., Raeder H., Hathout E., Shehadeh N., Gudmundsson K., Baevre H., Abuelo D., Phornphutkul C., Molnes J., Bell G.I., Gloyn A.L., Hattersley A.T., Molven A., Soevik O., Njoelstad P.R.
Diabetes 53:2713-2718(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PNDM VAL-35; MET-59; HIS-201; CYS-330 AND ILE-333.
Ref.24
"Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients."
Vaxillaire M., Populaire C., Busiah K., Cave H., Gloyn A.L., Hattersley A.T., Czernichow P., Froguel P., Polak M.
Diabetes 53:2719-2722(2004) [PubMed] [Europe PMC] [Abstract]
Vaxillaire M., Populaire C., Busiah K., Cave H., Gloyn A.L., Hattersley A.T., Czernichow P., Froguel P., Polak M.
Diabetes 53:2719-2722(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PNDM LEU-35; MET-59; CYS-201; HIS-201; LYS-322 AND CYS-330.
Ref.25
"Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel."
Gloyn A.L., Cummings E.A., Edghill E.L., Harries L.W., Scott R., Costa T., Temple I.K., Hattersley A.T., Ellard S.
J. Clin. Endocrinol. Metab. 89:3932-3935(2004) [PubMed] [Europe PMC] [Abstract]
Gloyn A.L., Cummings E.A., Edghill E.L., Harries L.W., Scott R., Costa T., Temple I.K., Hattersley A.T., Ellard S.
J. Clin. Endocrinol. Metab. 89:3932-3935(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PNDM CYS-201.
Ref.27
"Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes."
Gloyn A.L., Pearson E.R., Antcliff J.F., Proks P., Bruining G.J., Slingerland A.S., Howard N., Srinivasan S., Silva J.M.C.L., Molnes J., Edghill E.L., Frayling T.M., Temple I.K., Mackay D., Shield J.P.H., Sumnik Z., van Rhijn A., Wales J.K.H. , Clark P., Gorman S., Aisenberg J., Ellard S., Njoelstad P.R., Ashcroft F.M., Hattersley A.T.
N. Engl. J. Med. 350:1838-1849(2004) [PubMed] [Europe PMC] [Abstract]
Gloyn A.L., Pearson E.R., Antcliff J.F., Proks P., Bruining G.J., Slingerland A.S., Howard N., Srinivasan S., Silva J.M.C.L., Molnes J., Edghill E.L., Frayling T.M., Temple I.K., Mackay D., Shield J.P.H., Sumnik Z., van Rhijn A., Wales J.K.H. , Clark P., Gorman S., Aisenberg J., Ellard S., Njoelstad P.R., Ashcroft F.M., Hattersley A.T.
N. Engl. J. Med. 350:1838-1849(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PNDM ARG-52; GLY-59; MET-59; HIS-201; CYS-201 AND LEU-296, CHARACTERIZATION OF VARIANT PNDM HIS-201.
Ref.28
"Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features."
Proks P., Antcliff J.F., Lippiat J., Gloyn A.L., Hattersley A.T., Ashcroft F.M.
Proc. Natl. Acad. Sci. U.S.A. 101:17539-17544(2004) [PubMed] [Europe PMC] [Abstract]
Proks P., Antcliff J.F., Lippiat J., Gloyn A.L., Hattersley A.T., Ashcroft F.M.
Proc. Natl. Acad. Sci. U.S.A. 101:17539-17544(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANTS PNDM ARG-52; GLY-59 AND CYS-201.
Ref.31
"KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes."
The early onset diabetes study group of the Italian society of pediatric endocrinology and diabetes
Massa O., Iafusco D., D'Amato E., Gloyn A.L., Hattersley A.T., Pasquino B., Tonini G., Dammacco F., Zanette G., Meschi F., Porzio O., Bottazzo G., Crino A., Lorini R., Cerutti F., Vanelli M., Barbetti F.
Hum. Mutat. 25:22-27(2005) [PubMed] [Europe PMC] [Abstract]
The early onset diabetes study group of the Italian society of pediatric endocrinology and diabetes
Massa O., Iafusco D., D'Amato E., Gloyn A.L., Hattersley A.T., Pasquino B., Tonini G., Dammacco F., Zanette G., Meschi F., Porzio O., Bottazzo G., Crino A., Lorini R., Cerutti F., Vanelli M., Barbetti F.
Hum. Mutat. 25:22-27(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PNDM PRO-50; MET-59; ARG-170; ASN-170 AND CYS-201.
Ref.35
"Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects."
Shimomura K., Girard C.A.J., Proks P., Nazim J., Lippiat J.D., Cerutti F., Lorini R., Ellard S., Hattersely A.T., Barbetti F., Ashcroft F.M.
Diabetes 55:1705-1712(2006) [PubMed] [Europe PMC] [Abstract]
Shimomura K., Girard C.A.J., Proks P., Nazim J., Lippiat J.D., Cerutti F., Lorini R., Ellard S., Hattersely A.T., Barbetti F., Ashcroft F.M.
Diabetes 55:1705-1712(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PNDM GLN-50 AND PRO-50, CHARACTERIZATION OF VARIANTS PNDM GLN-50 AND PRO-50.
Ref.36
"Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype."
Flanagan S.E., Edghill E.L., Gloyn A.L., Ellard S., Hattersley A.T.
Diabetologia 49:1190-1197(2006) [PubMed] [Europe PMC] [Abstract]
Flanagan S.E., Edghill E.L., Gloyn A.L., Ellard S., Hattersley A.T.
Diabetologia 49:1190-1197(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PNDM TYR-46; GLN-50; ARG-52; ASP-53; GLY-59; MET-59; PRO-164; TYR-166; THR-170; CYS-201; HIS-201; LEU-201; LEU-296 AND SER-330.
Ref.40
"Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers."
Stanik J., Gasperikova D., Paskova M., Barak L., Javorkova J., Jancova E., Ciljakova M., Hlava P., Michalek J., Flanagan S.E., Pearson E., Hattersley A.T., Ellard S., Klimes I.
J. Clin. Endocrinol. Metab. 92:1276-1282(2007) [PubMed] [Europe PMC] [Abstract]
Stanik J., Gasperikova D., Paskova M., Barak L., Javorkova J., Jancova E., Ciljakova M., Hlava P., Michalek J., Flanagan S.E., Pearson E., Hattersley A.T., Ellard S., Klimes I.
J. Clin. Endocrinol. Metab. 92:1276-1282(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PNDM TYR-46; PRO-164 AND HIS-201.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare form of diabetes distinct from childhood-onset autoimmune diabetes mellitus type 1. It is characterized by insulin-requiring hyperglycemia that is diagnosed within the first months of life. Permanent neonatal diabetes requires lifelong therapy.
See also OMIM:606176| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026498 | 35 | F → L in PNDM. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026499 | 35 | F → V in PNDM. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031332 | 46 | H → Y in PNDM; one patient with mild dysmorphic features. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026500 | 50 | R → P in PNDM; decreased inhibition by ATP; enhanced activation by Mg(2+); increased current; one patient with developmental delay. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031333 | 50 | R → Q in PNDM; decreased inhibition by ATP; enhanced activation by Mg(2+); increased current. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026501 | 52 | Q → R in PNDM; with developmental delay and epilepsy; produces larger current and more change in ATP sensitivity than mutation associated with mild disease C-201. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031334 | 53 | G → D in PNDM; with developmental delay and epilepsy. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026504 | 59 | V → G in PNDM; with developmental delay and epilepsy; with neurologic features; produces larger current and more change in ATP sensitivity than mutation associated with mild disease C-201; decreases ATP sensitivity indirectly by favoring the open conformation of the channel. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026505 | 59 | V → M in PNDM; four patients with developmental delay and muscle weakness. 5 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_073681 | 60 | F → Y in PNDM; found in a patient who also carries L-64 in cis; thought to be the pathogenic mutation in this double allele; displays gain of function; increases the intrinsic channel open probability and decreases sensitivity toward ATP inhibition; variant L-64 associated in cis is thought to ameliorate the effect of the Y-60 mutation on the channel ATP sensitivity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_073682 | 64 | V → L in PNDM; found in a patient who also carries Y-60 in cis; unknown pathological significance; only subtle effects, if any, on channel ATP sensitivity; thought to attenuate the deleterious effect of the Y-60 mutation associated in cis on the channel ATP sensitivity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031341 | 164 | L → P in PNDM. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031342 | 166 | C → Y in PNDM; individual also diagnosed with West syndrome. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_073684 | 167 | I → L in PNDM; has severely impaired sensitivity to ATP and markedly increases open channel probability. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026508 | 170 | K → N in PNDM. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026509 | 170 | K → R in PNDM. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031343 | 170 | K → T in PNDM. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026511 | 201 | R → C in PNDM; two individuals with developmental delay; produces smaller current and less change in ATP sensitivity than mutations associated with severe disease R-52 and G-59. 6 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026512 | 201 | R → H in PNDM; ability of ATP to block mutant channels greatly reduced. 5 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031344 | 201 | R → L in PNDM. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026514 | 296 | I → L in PNDM; with developmental delay and epilepsy. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026515 | 322 | E → K in PNDM. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026516 | 330 | Y → C in PNDM. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031348 | 330 | Y → S in PNDM. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026517 | 333 | F → I in PNDM; alters gating characteristics, decreases sensitivity to inhibition by ATP and increases intrinsic open probability. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Transient neonatal diabetes mellitus 3 (TNDM3)2 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.30"Relapsing diabetes can result from moderately activating mutations in KCNJ11."
Gloyn A.L., Reimann F., Girard C., Edghill E.L., Proks P., Pearson E.R., Temple I.K., Mackay D.J.G., Shield J.P.H., Freedenberg D., Noyes K., Ellard S., Ashcroft F.M., Gribble F.M., Hattersley A.T.
Hum. Mol. Genet. 14:925-934(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS TNDM3 SER-53; ARG-53 AND VAL-182, CHARACTERIZATION OF VARIANTS TNDM3 SER-53; ARG-53 AND VAL-182. - Ref.33"The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus."
Yorifuji T., Nagashima K., Kurokawa K., Kawai M., Oishi M., Akazawa Y., Hosokawa M., Yamada Y., Inagaki N., Nakahata T.
J. Clin. Endocrinol. Metab. 90:3174-3178(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT TNDM3 ARG-42, CHARACTERIZATION OF VARIANT TNDM3 ARG-42.
Ref.30
"Relapsing diabetes can result from moderately activating mutations in KCNJ11."
Gloyn A.L., Reimann F., Girard C., Edghill E.L., Proks P., Pearson E.R., Temple I.K., Mackay D.J.G., Shield J.P.H., Freedenberg D., Noyes K., Ellard S., Ashcroft F.M., Gribble F.M., Hattersley A.T.
Hum. Mol. Genet. 14:925-934(2005) [PubMed] [Europe PMC] [Abstract]
Gloyn A.L., Reimann F., Girard C., Edghill E.L., Proks P., Pearson E.R., Temple I.K., Mackay D.J.G., Shield J.P.H., Freedenberg D., Noyes K., Ellard S., Ashcroft F.M., Gribble F.M., Hattersley A.T.
Hum. Mol. Genet. 14:925-934(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS TNDM3 SER-53; ARG-53 AND VAL-182, CHARACTERIZATION OF VARIANTS TNDM3 SER-53; ARG-53 AND VAL-182.
Ref.33
"The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus."
Yorifuji T., Nagashima K., Kurokawa K., Kawai M., Oishi M., Akazawa Y., Hosokawa M., Yamada Y., Inagaki N., Nakahata T.
J. Clin. Endocrinol. Metab. 90:3174-3178(2005) [PubMed] [Europe PMC] [Abstract]
Yorifuji T., Nagashima K., Kurokawa K., Kawai M., Oishi M., Akazawa Y., Hosokawa M., Yamada Y., Inagaki N., Nakahata T.
J. Clin. Endocrinol. Metab. 90:3174-3178(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT TNDM3 ARG-42, CHARACTERIZATION OF VARIANT TNDM3 ARG-42.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionNeonatal diabetes mellitus, defined as insulin-requiring hyperglycemia within the first month of life, is a rare entity. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes. In a significant number of patients with transient neonatal diabetes mellitus, diabetes type 2 appears later in life. The onset and severity of TNDM3 is variable with childhood-onset diabetes, gestational diabetes or adult-onset diabetes described.
See also OMIM:610582| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031331 | 42 | C → R in TNDM3; increased spontaneous open probability; reduced ATP sensitivity; reduced expression at the cell surface of the functional ATP-sensitive form. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026502 | 53 | G → R in TNDM3; also found in a family member with PNDM; reduction in the sensitivity to ATP when compared with wild-type. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026503 | 53 | G → S in TNDM3; also found in a family member with PNDM; reduction in the sensitivity to ATP when compared with wild-type. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026510 | 182 | I → V in TNDM3; reduction in the sensitivity to ATP when compared with wild-type. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Defects in KCNJ11 may contribute to non-insulin-dependent diabetes mellitus (NIDDM), also known as diabetes mellitus type 2.
Maturity-onset diabetes of the young 13 (MODY13)1 Publication
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.14"Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene."
Bonnefond A., Philippe J., Durand E., Dechaume A., Huyvaert M., Montagne L., Marre M., Balkau B., Fajardy I., Vambergue A., Vatin V., Delplanque J., Le Guilcher D., De Graeve F., Lecoeur C., Sand O., Vaxillaire M., Froguel P.
PLoS ONE 7:E37423-E37423(2012) [PubMed] [Europe PMC] [Abstract]Cited for: INVOLVEMENT IN MODY13, VARIANT MODY13 LYS-227.
Ref.14
"Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene."
Bonnefond A., Philippe J., Durand E., Dechaume A., Huyvaert M., Montagne L., Marre M., Balkau B., Fajardy I., Vambergue A., Vatin V., Delplanque J., Le Guilcher D., De Graeve F., Lecoeur C., Sand O., Vaxillaire M., Froguel P.
PLoS ONE 7:E37423-E37423(2012) [PubMed] [Europe PMC] [Abstract]
Bonnefond A., Philippe J., Durand E., Dechaume A., Huyvaert M., Montagne L., Marre M., Balkau B., Fajardy I., Vambergue A., Vatin V., Delplanque J., Le Guilcher D., De Graeve F., Lecoeur C., Sand O., Vaxillaire M., Froguel P.
PLoS ONE 7:E37423-E37423(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN MODY13, VARIANT MODY13 LYS-227.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
See also OMIM:616329| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_073686 | 227 | E → K in MODY13. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Mutagenesis
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 64 | V → M: Displays gain of function; increased open state stability, reduced ATP sensitivity and increased channel activity; almost completely abolishes high affinity sensitivity to glibenclamide, an inhibitor of ATP-sensitive potassium channels. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Diseasei
Diabetes mellitus, Disease mutationOrganism-specific databases
DisGeNET More...DisGeNETi | 3767 |
GeneReviews a resource of expert-authored, peer-reviewed disease descriptions. More...GeneReviewsi | KCNJ11 |
MalaCards human disease database More...MalaCardsi | KCNJ11 |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 601820 phenotype 606176 phenotype 610582 phenotype 616329 phenotype |
Orphanet; a database dedicated to information on rare diseases and orphan drugs More...Orphaneti | 276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency 79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency 79134 DEND syndrome 276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency 99989 Intermediate DEND syndrome 552 MODY 99885 Permanent neonatal diabetes mellitus 99886 Transient neonatal diabetes mellitus |
The Pharmacogenetics and Pharmacogenomics Knowledge Base More...PharmGKBi | PA217 |
Chemistry databases
ChEMBL database of bioactive drug-like small molecules More...ChEMBLi | CHEMBL1886 |
Drug and drug target database More...DrugBanki | DB01119 Diazoxide DB00222 Glimepiride DB01016 Glyburide DB00308 Ibutilide DB00922 Levosimendan DB01154 Thiamylal DB00839 Tolazamide DB00661 Verapamil DB01392 Yohimbine |
Polymorphism and mutation databases
BioMuta curated single-nucleotide variation and disease association database More...BioMutai | KCNJ11 |
Domain mapping of disease mutations (DMDM) More...DMDMi | 76803775 |
<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi
Molecule processing
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000154957 | 1 – 390 | ATP-sensitive inward rectifier potassium channel 11Add BLAST | 390 |
Amino acid modifications
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 341 | Phosphothreonine; by MAPK11 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 385 | Phosphoserine; by MAPK11 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi
Phosphorylation by MAPK1 results in changes in channel gating that destabilize the closed states and reduce the ATP sensitivity.1 Publication
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.13"Functional modulation of the ATP-sensitive potassium channel by extracellular signal-regulated kinase-mediated phosphorylation."
Lin Y.F., Chai Y.
Neuroscience 152:371-380(2008) [PubMed] [Europe PMC] [Abstract]Cited for: PHOSPHORYLATION AT THR-341 AND SER-385.
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - PTMi
PhosphoproteinProteomic databases
PaxDb, a database of protein abundance averages across all three domains of life More...PaxDbi | Q14654 |
PeptideAtlas More...PeptideAtlasi | Q14654 |
PRoteomics IDEntifications database More...PRIDEi | Q14654 |
ProteomicsDB human proteome resource More...ProteomicsDBi | 60093 |
PTM databases
iPTMnet integrated resource for PTMs in systems biology context More...iPTMneti | Q14654 |
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. More...PhosphoSitePlusi | Q14654 |
<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni
Gene expression databases
Bgee dataBase for Gene Expression Evolution More...Bgeei | ENSG00000187486 |
CleanEx database of gene expression profiles More...CleanExi | HS_KCNJ11 |
ExpressionAtlas, Differential and Baseline Expression More...ExpressionAtlasi | Q14654 baseline and differential |
Genevisible search portal to normalized and curated expression data from Genevestigator More...Genevisiblei | Q14654 HS |
Organism-specific databases
Human Protein Atlas More...HPAi | HPA048891 |
<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni
<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei
Interacts with ABCC8/SUR. Interacts with ABCC9/SUR2.2 Publications
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.5"Reconstituted human cardiac KATP channels: functional identity with the native channels from the sarcolemma of human ventricular cells."
Babenko A.P., Gonzalez G., Aguilar-Bryan L., Bryan J.
Circ. Res. 83:1132-1143(1998) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, INTERACTION WITH ABCC9. - Ref.12"A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit."
Tammaro P., Ashcroft F.M.
J. Physiol. (Lond.) 584:743-753(2007) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, CHARACTERIZATION OF VARIANT PNDM ILE-333, INTERACTION WITH ABCC9.
<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi
| With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| ABCC8 | Q09428-1 | 2 | EBI-2866553,EBI-15807650 | |
| ANK2 | Q01484 | 6 | EBI-2866553,EBI-941975 |
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni
- ankyrin binding Source: BHF-UCL <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactioni
- heat shock protein binding Source: Ensembl
- ion channel binding Source: BHF-UCL <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactioni
- protein C-terminus binding Source: Ensembl
Protein-protein interaction databases
The Biological General Repository for Interaction Datasets (BioGrid) More...BioGridi | 109969, 12 interactors |
ComplexPortal: manually curated resource of macromolecular complexes More...ComplexPortali | CPX-195 Inward rectifying potassium channel complex, Kir6.2-SUR1 CPX-197 Inward rectifying potassium channel complex, Kir6.2-SUR2A CPX-199 Inward rectifying potassium channel complex, Kir6.2-SUR2B |
CORUM comprehensive resource of mammalian protein complexes More...CORUMi | Q14654 |
Database of interacting proteins More...DIPi | DIP-58643N |
The Eukaryotic Linear Motif resource for Functional Sites in Proteins More...ELMi | Q14654 |
Protein interaction database and analysis system More...IntActi | Q14654, 6 interactors |
STRING: functional protein association networks More...STRINGi | 9606.ENSP00000345708 |
Chemistry databases
BindingDB database of measured binding affinities More...BindingDBi | Q14654 |
<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei
3D structure databases
Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase More...ProteinModelPortali | Q14654 |
SWISS-MODEL Repository - a database of annotated 3D protein structure models More...SMRi | Q14654 |
Database of comparative protein structure models More...ModBasei | Search... |
MobiDB: a database of protein disorder and mobility annotations More...MobiDBi | Search... |
<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi
Motif
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi | 130 – 135 | Selectivity filterBy similarity | 6 |
<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi
Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ11 subfamily. [View classification]Curated
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
evolutionary genealogy of genes: Non-supervised Orthologous Groups More...eggNOGi | KOG3827 Eukaryota ENOG410XQ62 LUCA |
The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms More...HOGENOMi | HOG000237325 |
The HOVERGEN Database of Homologous Vertebrate Genes More...HOVERGENi | HBG006178 |
InParanoid: Eukaryotic Ortholog Groups More...InParanoidi | Q14654 |
KEGG Orthology (KO) More...KOi | K05004 |
Database of Orthologous Groups More...OrthoDBi | EOG091G08HC |
Database for complete collections of gene phylogenies More...PhylomeDBi | Q14654 |
TreeFam database of animal gene trees More...TreeFami | TF313676 |
Family and domain databases
Gene3D Structural and Functional Annotation of Protein Families More...Gene3Di | 2.60.40.1400, 2 hits |
Integrated resource of protein families, domains and functional sites More...InterProi | View protein in InterPro IPR014756 Ig_E-set IPR016449 K_chnl_inward-rec_Kir IPR003279 K_chnl_inward-rec_Kir6.2 IPR013518 K_chnl_inward-rec_Kir_cyto |
The PANTHER Classification System More...PANTHERi | PTHR11767 PTHR11767, 1 hit PTHR11767:SF44 PTHR11767:SF44, 1 hit |
Pfam protein domain database More...Pfami | View protein in Pfam PF01007 IRK, 1 hit |
PIRSF; a whole-protein classification database More...PIRSFi | PIRSF005465 GIRK_kir, 1 hit |
Protein Motif fingerprint database; a protein domain database More...PRINTSi | PR01332 KIR62CHANNEL PR01320 KIRCHANNEL |
Superfamily database of structural and functional annotation More...SUPFAMi | SSF81296 SSF81296, 1 hit |
<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i
<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.
This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basketAdded to basket
Isoform 1 (identifier: Q14654-1) [UniParc]FASTAAdd to basketAdded to basketShow »
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
10 20 30 40 50
MLSRKGIIPE EYVLTRLAED PAEPRYRARQ RRARFVSKKG NCNVAHKNIR
60 70 80 90 100
EQGRFLQDVF TTLVDLKWPH TLLIFTMSFL CSWLLFAMAW WLIAFAHGDL
110 120 130 140 150
APSEGTAEPC VTSIHSFSSA FLFSIEVQVT IGFGGRMVTE ECPLAILILI
160 170 180 190 200
VQNIVGLMIN AIMLGCIFMK TAQAHRRAET LIFSKHAVIA LRHGRLCFML
210 220 230 240 250
RVGDLRKSMI ISATIHMQVV RKTTSPEGEV VPLHQVDIPM ENGVGGNSIF
260 270 280 290 300
LVAPLIIYHV IDANSPLYDL APSDLHHHQD LEIIVILEGV VETTGITTQA
310 320 330 340 350
RTSYLADEIL WGQRFVPIVA EEDGRYSVDY SKFGNTIKVP TPLCTARQLD
360 370 380 390
EDHSLLEALT LASARGPLRK RSVPMAKAKP KFSISPDSLS
Length:390
Mass (Da):43,541
Last modified:September 27, 2005 - v2
<p>The checksum is a form of redundancy check that is calculated
from the sequence. It is useful for tracking sequence updates.</p>
<p>It should be noted that while, in theory, two different sequences could
have the same checksum value, the likelihood that this would happen
is extremely low.</p>
<p>However UniProtKB may contain entries with identical sequences in case
of multiple genes (paralogs).</p>
<p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64)
using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1.
The algorithm is described in the ISO 3309 standard.
</p>
<p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br />
<strong>Cyclic redundancy and other checksums</strong><br />
<a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p>
Checksum:i8345E7DBCE897344
Isoform 2 (identifier: Q14654-2) [UniParc]FASTAAdd to basketAdded to basketShow »
The sequence of this isoform differs from the canonical sequence as follows:
1-87: Missing.
10 20 30 40 50
MAWWLIAFAH GDLAPSEGTA EPCVTSIHSF SSAFLFSIEV QVTIGFGGRM
60 70 80 90 100
VTEECPLAIL ILIVQNIVGL MINAIMLGCI FMKTAQAHRR AETLIFSKHA
110 120 130 140 150
VIALRHGRLC FMLRVGDLRK SMIISATIHM QVVRKTTSPE GEVVPLHQVD
160 170 180 190 200
IPMENGVGGN SIFLVAPLII YHVIDANSPL YDLAPSDLHH HQDLEIIVIL
210 220 230 240 250
EGVVETTGIT TQARTSYLAD EILWGQRFVP IVAEEDGRYS VDYSKFGNTI
260 270 280 290 300
KVPTPLCTAR QLDEDHSLLE ALTLASARGP LRKRSVPMAK AKPKFSISPD
SLS
Length:303
Mass (Da):33,263
<p>The checksum is a form of redundancy check that is calculated
from the sequence. It is useful for tracking sequence updates.</p>
<p>It should be noted that while, in theory, two different sequences could
have the same checksum value, the likelihood that this would happen
is extremely low.</p>
<p>However UniProtKB may contain entries with identical sequences in case
of multiple genes (paralogs).</p>
<p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64)
using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1.
The algorithm is described in the ISO 3309 standard.
</p>
<p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br />
<strong>Cyclic redundancy and other checksums</strong><br />
<a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p>
Checksum:iCBB99A32291CD64B
<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni
The sequence AAH40617 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
Experimental Info
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti | 370 | K → E in BAG63046 (PubMed:14702039).Curated | 1 |
Natural variant
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_008659 | 10 | E → K Rare polymorphism. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_055978 | 18 | A → G. Corresponds to variant dbSNP:rs41309072Ensembl. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_008660 | 23 | E → K Linked to V-337. 6 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031329 | 34 | R → H in HHF2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026498 | 35 | F → L in PNDM. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026499 | 35 | F → V in PNDM. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031330 | 40 | G → D in HHF2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031331 | 42 | C → R in TNDM3; increased spontaneous open probability; reduced ATP sensitivity; reduced expression at the cell surface of the functional ATP-sensitive form. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031332 | 46 | H → Y in PNDM; one patient with mild dysmorphic features. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026500 | 50 | R → P in PNDM; decreased inhibition by ATP; enhanced activation by Mg(2+); increased current; one patient with developmental delay. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031333 | 50 | R → Q in PNDM; decreased inhibition by ATP; enhanced activation by Mg(2+); increased current. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026501 | 52 | Q → R in PNDM; with developmental delay and epilepsy; produces larger current and more change in ATP sensitivity than mutation associated with mild disease C-201. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031334 | 53 | G → D in PNDM; with developmental delay and epilepsy. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026502 | 53 | G → R in TNDM3; also found in a family member with PNDM; reduction in the sensitivity to ATP when compared with wild-type. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026503 | 53 | G → S in TNDM3; also found in a family member with PNDM; reduction in the sensitivity to ATP when compared with wild-type. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031335 | 55 | F → L in HHF2; does neither affect channel expression nor channel response to MgADP. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026504 | 59 | V → G in PNDM; with developmental delay and epilepsy; with neurologic features; produces larger current and more change in ATP sensitivity than mutation associated with mild disease C-201; decreases ATP sensitivity indirectly by favoring the open conformation of the channel. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026505 | 59 | V → M in PNDM; four patients with developmental delay and muscle weakness. 5 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_073681 | 60 | F → Y in PNDM; found in a patient who also carries L-64 in cis; thought to be the pathogenic mutation in this double allele; displays gain of function; increases the intrinsic channel open probability and decreases sensitivity toward ATP inhibition; variant L-64 associated in cis is thought to ameliorate the effect of the Y-60 mutation on the channel ATP sensitivity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_073682 | 64 | V → L in PNDM; found in a patient who also carries Y-60 in cis; unknown pathological significance; only subtle effects, if any, on channel ATP sensitivity; thought to attenuate the deleterious effect of the Y-60 mutation associated in cis on the channel ATP sensitivity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026506 | 67 | K → N in HHF2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026507 | 91 | W → R in HHF2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031336 | 101 | A → D in HHF2. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031337 | 116 | S → P in HHF2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031338 | 134 | G → A in HHF2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031339 | 136 | R → L in HHF2. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_001557 | 147 | L → P in HHF2. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031340 | 148 | I → S2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_073683 | 156 | G → R in HHF2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031341 | 164 | L → P in PNDM. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031342 | 166 | C → Y in PNDM; individual also diagnosed with West syndrome. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_073684 | 167 | I → L in PNDM; has severely impaired sensitivity to ATP and markedly increases open channel probability. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026508 | 170 | K → N in PNDM. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026509 | 170 | K → R in PNDM. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031343 | 170 | K → T in PNDM. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026510 | 182 | I → V in TNDM3; reduction in the sensitivity to ATP when compared with wild-type. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_014929 | 195 | R → H. Corresponds to variant dbSNP:rs5217EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026511 | 201 | R → C in PNDM; two individuals with developmental delay; produces smaller current and less change in ATP sensitivity than mutations associated with severe disease R-52 and G-59. 6 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026512 | 201 | R → H in PNDM; ability of ATP to block mutant channels greatly reduced. 5 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031344 | 201 | R → L in PNDM. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_073685 | 204 | D → E in HHF2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_073686 | 227 | E → K in MODY13. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026513 | 254 | P → L in HHF2; impairs trafficking of the mutant channel. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031345 | 259 | H → R in HHF2; impairs trafficking and abolishes channel function. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031346 | 266 | P → L in HHF2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_008661 | 270 | L → V2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_073687 | 282 | E → K in HHF2; prevents the ER export and surface expression of the channel. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026514 | 296 | I → L in PNDM; with developmental delay and epilepsy. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031347 | 301 | R → H in HHF2. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026515 | 322 | E → K in PNDM. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026516 | 330 | Y → C in PNDM. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031348 | 330 | Y → S in PNDM. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026517 | 333 | F → I in PNDM; alters gating characteristics, decreases sensitivity to inhibition by ATP and increases intrinsic open probability. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_008662 | 337 | I → V Linked to K-23. 6 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_008663 | 355 | L → P in NIDDM; Afro-Caribbean. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_008664 | 380 | P → PKP in NIDDM. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_008665 | 385 | S → C1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Alternative sequence
Sequence databases
| Select the link destinations: EMBL nucleotide sequence database More...EMBLiGenBank nucleotide sequence database More...GenBankiDNA Data Bank of Japan; a nucleotide sequence database More...DDBJiLinks Updated | D50582 Genomic DNA Translation: BAA09131.1 AK301550 mRNA Translation: BAG63046.1 AC124798 Genomic DNA No translation available. BC064497 mRNA Translation: AAH64497.1 BC040617 mRNA Translation: AAH40617.1 Different initiation. BC112358 mRNA Translation: AAI12359.1 |
The Consensus CDS (CCDS) project More...CCDSi | CCDS31436.1 [Q14654-1] CCDS53606.1 [Q14654-2] |
Protein sequence database of the Protein Information Resource More...PIRi | A57616 |
NCBI Reference Sequences More...RefSeqi | NP_001159762.1, NM_001166290.1 |
UniGene gene-oriented nucleotide sequence clusters More...UniGenei | Hs.248141 |
Genome annotation databases
Ensembl eukaryotic genome annotation project More...Ensembli | ENST00000339994; ENSP00000345708; ENSG00000187486 ENST00000528731; ENSP00000434755; ENSG00000187486 |
Database of genes from NCBI RefSeq genomes More...GeneIDi | 3767 |
KEGG: Kyoto Encyclopedia of Genes and Genomes More...KEGGi | hsa:3767 |
UCSC genome browser More...UCSCi | uc001mna.4 human [Q14654-1] |
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Coding sequence diversityi
Alternative splicing, Polymorphism<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi
| Protein | Similar proteins | Species | Score | Length | |
|---|---|---|---|---|---|
| Q14654 | UPI000CCBD6CF | 406 | |||
| KCNJ11 isoform 4 (Fragment) | 153 | ||||
| Q14654-2 | 303 | ||||
| ATP-sensitive inward rectifier potassium channel 11 (Fragment) | 153 | ||||
| Inwardly rectifing potassium channel subfamily J member 11 (Fragment) | 48 |
| Protein | Similar proteins | Species | Score | Length | |
|---|---|---|---|---|---|
| Q14654 | UPI000CCBD6CF | 406 | |||
| KCNJ11 isoform 4 (Fragment) | 153 | ||||
| UPI0004404BAE | 396 | ||||
| ATP-sensitive inward rectifier potassium channel 11 | 395 | ||||
| Potassium voltage-gated channel subfamily J member 11 | 395 | ||||
| +143 | |||||
| Protein | Similar proteins | Species | Score | Length | |
|---|---|---|---|---|---|
| Q14654 | UPI000CCBD6CF | 406 | |||
| KCNJ11 isoform 4 (Fragment) | 153 | ||||
| UPI0004404BAE | 396 | ||||
| UPI0007A6A91D | 395 | ||||
| ATP-sensitive inward rectifier potassium channel 11 | 395 | ||||
| +410 | |||||
<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi
Sequence databases
| Select the link destinations: EMBL nucleotide sequence database More...EMBLiGenBank nucleotide sequence database More...GenBankiDNA Data Bank of Japan; a nucleotide sequence database More...DDBJiLinks Updated | D50582 Genomic DNA Translation: BAA09131.1 AK301550 mRNA Translation: BAG63046.1 AC124798 Genomic DNA No translation available. BC064497 mRNA Translation: AAH64497.1 BC040617 mRNA Translation: AAH40617.1 Different initiation. BC112358 mRNA Translation: AAI12359.1 |
The Consensus CDS (CCDS) project More...CCDSi | CCDS31436.1 [Q14654-1] CCDS53606.1 [Q14654-2] |
Protein sequence database of the Protein Information Resource More...PIRi | A57616 |
NCBI Reference Sequences More...RefSeqi | NP_001159762.1, NM_001166290.1 |
UniGene gene-oriented nucleotide sequence clusters More...UniGenei | Hs.248141 |
3D structure databases
| Select the link destinations: Protein Data Bank Europe More...PDBeiProtein Data Bank RCSB More...RCSB PDBiProtein Data Bank Japan More...PDBjiLinks Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
| 6C3O | electron microscopy | 3.90 | A/B/C/D | 1-390 | [»] | |
| 6C3P | electron microscopy | 5.60 | A/B/C/D | 1-390 | [»] | |
Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase More...ProteinModelPortali | Q14654 | |||||
SWISS-MODEL Repository - a database of annotated 3D protein structure models More...SMRi | Q14654 | |||||
Database of comparative protein structure models More...ModBasei | Search... | |||||
MobiDB: a database of protein disorder and mobility annotations More...MobiDBi | Search... | |||||
Protein-protein interaction databases
The Biological General Repository for Interaction Datasets (BioGrid) More...BioGridi | 109969, 12 interactors |
ComplexPortal: manually curated resource of macromolecular complexes More...ComplexPortali | CPX-195 Inward rectifying potassium channel complex, Kir6.2-SUR1 CPX-197 Inward rectifying potassium channel complex, Kir6.2-SUR2A CPX-199 Inward rectifying potassium channel complex, Kir6.2-SUR2B |
CORUM comprehensive resource of mammalian protein complexes More...CORUMi | Q14654 |
Database of interacting proteins More...DIPi | DIP-58643N |
The Eukaryotic Linear Motif resource for Functional Sites in Proteins More...ELMi | Q14654 |
Protein interaction database and analysis system More...IntActi | Q14654, 6 interactors |
STRING: functional protein association networks More...STRINGi | 9606.ENSP00000345708 |
Chemistry databases
BindingDB database of measured binding affinities More...BindingDBi | Q14654 |
ChEMBL database of bioactive drug-like small molecules More...ChEMBLi | CHEMBL1886 |
Drug and drug target database More...DrugBanki | DB01119 Diazoxide DB00222 Glimepiride DB01016 Glyburide DB00308 Ibutilide DB00922 Levosimendan DB01154 Thiamylal DB00839 Tolazamide DB00661 Verapamil DB01392 Yohimbine |
Protein family/group databases
Transport Classification Database More...TCDBi | 1.A.2.1.17 the inward rectifier k(+) channel (irk-c) family |
PTM databases
iPTMnet integrated resource for PTMs in systems biology context More...iPTMneti | Q14654 |
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. More...PhosphoSitePlusi | Q14654 |
Polymorphism and mutation databases
BioMuta curated single-nucleotide variation and disease association database More...BioMutai | KCNJ11 |
Domain mapping of disease mutations (DMDM) More...DMDMi | 76803775 |
Proteomic databases
PaxDb, a database of protein abundance averages across all three domains of life More...PaxDbi | Q14654 |
PeptideAtlas More...PeptideAtlasi | Q14654 |
PRoteomics IDEntifications database More...PRIDEi | Q14654 |
ProteomicsDB human proteome resource More...ProteomicsDBi | 60093 |
Protocols and materials databases
| Structural Biology Knowledgebase | Search... |
Genome annotation databases
Ensembl eukaryotic genome annotation project More...Ensembli | ENST00000339994; ENSP00000345708; ENSG00000187486 ENST00000528731; ENSP00000434755; ENSG00000187486 |
Database of genes from NCBI RefSeq genomes More...GeneIDi | 3767 |
KEGG: Kyoto Encyclopedia of Genes and Genomes More...KEGGi | hsa:3767 |
UCSC genome browser More...UCSCi | uc001mna.4 human [Q14654-1] |
Organism-specific databases
Comparative Toxicogenomics Database More...CTDi | 3767 |
DisGeNET More...DisGeNETi | 3767 |
Eukaryotic Pathogen Database Resources More...EuPathDBi | HostDB:ENSG00000187486.5 |
GeneCards: human genes, protein and diseases More...GeneCardsi | KCNJ11 |
GeneReviews a resource of expert-authored, peer-reviewed disease descriptions. More...GeneReviewsi | KCNJ11 |
H-Invitational Database, human transcriptome db More...H-InvDBi | HIX0035982 |
Human Gene Nomenclature Database More...HGNCi | HGNC:6257 KCNJ11 |
Human Protein Atlas More...HPAi | HPA048891 |
MalaCards human disease database More...MalaCardsi | KCNJ11 |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 600937 gene 601820 phenotype 606176 phenotype 610582 phenotype 616329 phenotype |
neXtProt; the human protein knowledge platform More...neXtProti | NX_Q14654 |
Orphanet; a database dedicated to information on rare diseases and orphan drugs More...Orphaneti | 276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency 79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency 79134 DEND syndrome 276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency 99989 Intermediate DEND syndrome 552 MODY 99885 Permanent neonatal diabetes mellitus 99886 Transient neonatal diabetes mellitus |
The Pharmacogenetics and Pharmacogenomics Knowledge Base More...PharmGKBi | PA217 |
GenAtlas: human gene database More...GenAtlasi | Search... |
Phylogenomic databases
evolutionary genealogy of genes: Non-supervised Orthologous Groups More...eggNOGi | KOG3827 Eukaryota ENOG410XQ62 LUCA |
The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms More...HOGENOMi | HOG000237325 |
The HOVERGEN Database of Homologous Vertebrate Genes More...HOVERGENi | HBG006178 |
InParanoid: Eukaryotic Ortholog Groups More...InParanoidi | Q14654 |
KEGG Orthology (KO) More...KOi | K05004 |
Database of Orthologous Groups More...OrthoDBi | EOG091G08HC |
Database for complete collections of gene phylogenies More...PhylomeDBi | Q14654 |
TreeFam database of animal gene trees More...TreeFami | TF313676 |
Enzyme and pathway databases
Reactome - a knowledgebase of biological pathways and processes More...Reactomei | R-HSA-1296025 ATP sensitive Potassium channels R-HSA-382556 ABC-family proteins mediated transport R-HSA-422356 Regulation of insulin secretion R-HSA-5578775 Ion homeostasis R-HSA-5683177 Defective ABCC8 can cause hypoglycemias and hyperglycemias |
SignaLink: a signaling pathway resource with multi-layered regulatory networks More...SignaLinki | Q14654 |
SIGNOR Signaling Network Open Resource More...SIGNORi | Q14654 |
Miscellaneous databases
ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data More...ChiTaRSi | KCNJ11 human |
The Gene Wiki collection of pages on human genes and proteins More...GeneWikii | Kir6.2 |
Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens More...GenomeRNAii | 3767 |
Protein Ontology More...PROi | PR:Q14654 |
The Stanford Online Universal Resource for Clones and ESTs More...SOURCEi | Search... |
Gene expression databases
Bgee dataBase for Gene Expression Evolution More...Bgeei | ENSG00000187486 |
CleanEx database of gene expression profiles More...CleanExi | HS_KCNJ11 |
ExpressionAtlas, Differential and Baseline Expression More...ExpressionAtlasi | Q14654 baseline and differential |
Genevisible search portal to normalized and curated expression data from Genevestigator More...Genevisiblei | Q14654 HS |
Family and domain databases
Gene3D Structural and Functional Annotation of Protein Families More...Gene3Di | 2.60.40.1400, 2 hits |
Integrated resource of protein families, domains and functional sites More...InterProi | View protein in InterPro IPR014756 Ig_E-set IPR016449 K_chnl_inward-rec_Kir IPR003279 K_chnl_inward-rec_Kir6.2 IPR013518 K_chnl_inward-rec_Kir_cyto |
The PANTHER Classification System More...PANTHERi | PTHR11767 PTHR11767, 1 hit PTHR11767:SF44 PTHR11767:SF44, 1 hit |
Pfam protein domain database More...Pfami | View protein in Pfam PF01007 IRK, 1 hit |
PIRSF; a whole-protein classification database More...PIRSFi | PIRSF005465 GIRK_kir, 1 hit |
Protein Motif fingerprint database; a protein domain database More...PRINTSi | PR01332 KIR62CHANNEL PR01320 KIRCHANNEL |
Superfamily database of structural and functional annotation More...SUPFAMi | SSF81296 SSF81296, 1 hit |
ProtoNet; Automatic hierarchical classification of proteins More...ProtoNeti | Search... |
<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi
| <p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry namei | KCJ11_HUMAN | |
| <p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>Accessioni | Q14654Primary (citable) accession number: Q14654 Secondary accession number(s): B4DWI4 , E9PNK0, Q2M1H7, Q58EX3, Q8IW96 | |
| <p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
| Last sequence update: | September 27, 2005 | |
| Last modified: | June 20, 2018 | |
| This is version 195 of the entry and version 2 of the sequence. See complete history. | ||
| <p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
| Annotation program | Chordata Protein Annotation Program | |
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | |
<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Technical termi
3D-structure, Complete proteome, Reference proteomeDocuments
- Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families
