UniProtKB - Q9UNF1 (MAGD2_HUMAN)
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- BLAST>sp|Q9UNF1|MAGD2_HUMAN Melanoma-associated antigen D2 OS=Homo sapiens GN=MAGED2 PE=1 SV=2 MSDTSESGAGLTRFQAEASEKDSSSMMQTLLTVTQNVEVPETPKASKALEVSEDVKVSKA SGVSKATEVSKTPEAREAPATQASSTTQLTDTQVLAAENKSLAADTKKQNADPQAVTMPA TETKKVSHVADTKVNTKAQETEAAPSQAPADEPEPESAAAQSQENQDTRPKVKAKKARKV KHLDGEEDGSSDQSQASGTTGGRRVSKALMASMARRASRGPIAFWARRASRTRLAAWARR ALLSLRSPKARRGKARRRAAKLQSSQEPEAPPPRDVALLQGRANDLVKYLLAKDQTKIPI KRSDMLKDIIKEYTDVYPEIIERAGYSLEKVFGIQLKEIDKNDHLYILLSTLEPTDAGIL GTTKDSPKLGLLMVLLSIIFMNGNRSSEAVIWEVLRKLGLRPGIHHSLFGDVKKLITDEF VKQKYLDYARVPNSNPPEYEFFWGLRSYYETSKMKVLKFACKVQKKDPKEWAAQYREAME ADLKAAAEAAAEAKARAEIRARMGIGLGSENAAGPCNWDEADIGPWAKARIQAGAEAKAK AQESGSASTGASTSTNNSASASASTSGGFSAGASLTATLTFGLFAGLGGAGASTSGSSGA CGFSYK
- Align
Protein
Melanoma-associated antigen D2
Gene
MAGED2
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.<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
Regulates the expression, localization to the plasma membrane and function of the sodium chloride cotransporters SLC12A1 and SLC12A3, two key components of salt reabsorption in the distal renal tubule.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.26"Polyhydramnios, transient antenatal Bartter's syndrome, and MAGED2 mutations."
Laghmani K., Beck B.B., Yang S.S., Seaayfan E., Wenzel A., Reusch B., Vitzthum H., Priem D., Demaretz S., Bergmann K., Duin L.K., Goebel H., Mache C., Thiele H., Bartram M.P., Dombret C., Altmueller J., Nuernberg P. , Benzing T., Levtchenko E., Seyberth H.W., Klaus G., Yigit G., Lin S.H., Timmer A., de Koning T.J., Scherjon S.A., Schlingmann K.P., Bertrand M.J., Rinschen M.M., de Backer O., Konrad M., Koemhoff M.
N. Engl. J. Med. 374:1853-1863(2016) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, INTERACTION WITH GNAS AND DNAJB1, TISSUE SPECIFICITY, INVOLVEMENT IN BARTS5, VARIANTS BARTS5 CYS-446 AND 488-GLU--ALA-491 DEL, CHARACTERIZATION OF VARIANT BARTS5 CYS-446.
<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
- female pregnancy Source: UniProtKB <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
- platelet degranulation Source: Reactome
- renal sodium ion absorption Source: UniProtKB <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
<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 | Tumor antigen |
Enzyme and pathway databases
Reactome - a knowledgebase of biological pathways and processes More...Reactomei | R-HSA-114608. Platelet degranulation. |
<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 ‘Names and Taxonomy’ 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: Melanoma-associated antigen D2Alternative name(s): 11B6 Breast cancer-associated gene 1 protein Short name: BCG-1 Hepatocellular carcinoma-associated protein JCL-1 MAGE-D2 antigen |
| <p>This subsection of the ‘Names and taxonomy’ 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:MAGED2 Synonyms:BCG1 |
| <p>This subsection of the ‘Names and taxonomy’ 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 ‘Names and taxonomy’ section shows the unique identifier assigned by the <span class="caps">NCBI</span> 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 ‘Names and taxonomy’ 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 “Names and Taxonomy” 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
Human Gene Nomenclature Database More...HGNCi | HGNC:16353. MAGED2. |
<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
<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 - Cellular componenti
- cytosol Source: HPA
- extracellular region Source: Reactome
- membrane Source: UniProtKB <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
- nucleolus Source: HPA
- nucleus Source: HPA
- platelet alpha granule lumen Source: Reactome
<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"><span class="caps">OMIM</span></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
Bartter syndrome 5, antenatal, transient (BARTS5)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.26"Polyhydramnios, transient antenatal Bartter's syndrome, and MAGED2 mutations."
Laghmani K., Beck B.B., Yang S.S., Seaayfan E., Wenzel A., Reusch B., Vitzthum H., Priem D., Demaretz S., Bergmann K., Duin L.K., Goebel H., Mache C., Thiele H., Bartram M.P., Dombret C., Altmueller J., Nuernberg P. , Benzing T., Levtchenko E., Seyberth H.W., Klaus G., Yigit G., Lin S.H., Timmer A., de Koning T.J., Scherjon S.A., Schlingmann K.P., Bertrand M.J., Rinschen M.M., de Backer O., Konrad M., Koemhoff M.
N. Engl. J. Med. 374:1853-1863(2016) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, INTERACTION WITH GNAS AND DNAJB1, TISSUE SPECIFICITY, INVOLVEMENT IN BARTS5, VARIANTS BARTS5 CYS-446 AND 488-GLU--ALA-491 DEL, CHARACTERIZATION OF VARIANT BARTS5 CYS-446.
Ref.26
"Polyhydramnios, transient antenatal Bartter's syndrome, and MAGED2 mutations."
Laghmani K., Beck B.B., Yang S.S., Seaayfan E., Wenzel A., Reusch B., Vitzthum H., Priem D., Demaretz S., Bergmann K., Duin L.K., Goebel H., Mache C., Thiele H., Bartram M.P., Dombret C., Altmueller J., Nuernberg P. , Benzing T., Levtchenko E., Seyberth H.W., Klaus G., Yigit G., Lin S.H., Timmer A., de Koning T.J., Scherjon S.A., Schlingmann K.P., Bertrand M.J., Rinschen M.M., de Backer O., Konrad M., Koemhoff M.
N. Engl. J. Med. 374:1853-1863(2016) [PubMed] [Europe PMC] [Abstract]
Laghmani K., Beck B.B., Yang S.S., Seaayfan E., Wenzel A., Reusch B., Vitzthum H., Priem D., Demaretz S., Bergmann K., Duin L.K., Goebel H., Mache C., Thiele H., Bartram M.P., Dombret C., Altmueller J., Nuernberg P. , Benzing T., Levtchenko E., Seyberth H.W., Klaus G., Yigit G., Lin S.H., Timmer A., de Koning T.J., Scherjon S.A., Schlingmann K.P., Bertrand M.J., Rinschen M.M., de Backer O., Konrad M., Koemhoff M.
N. Engl. J. Med. 374:1853-1863(2016) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH GNAS AND DNAJB1, TISSUE SPECIFICITY, INVOLVEMENT IN BARTS5, VARIANTS BARTS5 CYS-446 AND 488-GLU--ALA-491 DEL, CHARACTERIZATION OF VARIANT BARTS5 CYS-446.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn X-linked recessive form of Bartter syndrome, a disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS5 is an antenatal form beginning in utero with marked fetal polyuria that leads to polyhydramnios and premature delivery. It is characterized by severe but transient symptoms that can resolve with age.
See also OMIM:300971| 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_076836 | 446 | R → C in BARTS5; loss of interaction with GNAS. 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_076837 | 488 – 491 | Missing in BARTS5. 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
| 4 |
<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
Bartter syndrome, Disease mutationOrganism-specific databases
DisGeNET More...DisGeNETi | 10916. |
MalaCards human disease database More...MalaCardsi | MAGED2. |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 300971. phenotype. |
Open Targets More...OpenTargetsi | ENSG00000102316. |
The Pharmacogenetics and Pharmacogenomics Knowledge Base More...PharmGKBi | PA30560. |
Polymorphism and mutation databases
BioMuta curated single-nucleotide variation and disease association database More...BioMutai | MAGED2. |
Domain mapping of disease mutations (DMDM) More...DMDMi | 17380153. |
<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 <a href="http://www.uniprot.org/help/ptm_processing_section"><span class="caps">PTM</span> / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methioninei | RemovedCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei
<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
| |||
| <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_0000156727 | 2 – 606 | Melanoma-associated antigen D2Add BLAST | 605 |
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 | 2 | N-acetylserineCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei
<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 | 5 | PhosphoserineCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei
| 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 | 72 | PhosphothreonineCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei
| 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 | 157 | PhosphoserineCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei
| 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 | 190 | PhosphoserineCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei
| 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 | 191 | PhosphoserineCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei
| 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 | 194 | PhosphoserineCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei
| 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 | 197 | PhosphoserineCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei
| 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 | 244 | PhosphoserineCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei
| 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 | 247 | PhosphoserineCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei
| 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 | 264 | PhosphoserineCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei
| 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 | 265 | PhosphoserineCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei
| 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 - PTMi
Acetylation, PhosphoproteinProteomic databases
Encyclopedia of Proteome Dynamics More...EPDi | Q9UNF1. |
PaxDb, a database of protein abundance averages across all three domains of life More...PaxDbi | Q9UNF1. |
PeptideAtlas More...PeptideAtlasi | Q9UNF1. |
PRoteomics IDEntifications database More...PRIDEi | Q9UNF1. |
PTM databases
iPTMnet integrated resource for PTMs in systems biology context More...iPTMneti | Q9UNF1. |
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. More...PhosphoSitePlusi | Q9UNF1. |
<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
<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression"><span class="caps">P92958</span></a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression"><span class="caps">Q8TDN4</span></a>, <a href="http://www.uniprot.org/uniprot/O14734#expression"><span class="caps">O14734</span></a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi
Widely expressed. In the developing and adult kidney, expressed in the thick ascending limb of the loop of Henle and the distal convoluted tubules outside the loop.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.2"Expression pattern and further characterization of human MAGED2 and identification of rodent orthologues."
Langnaese K., Kloos D.U., Wehnert M., Seidel B., Wieacker P.
Cytogenet. Cell Genet. 94:233-240(2001) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). - Ref.26"Polyhydramnios, transient antenatal Bartter's syndrome, and MAGED2 mutations."
Laghmani K., Beck B.B., Yang S.S., Seaayfan E., Wenzel A., Reusch B., Vitzthum H., Priem D., Demaretz S., Bergmann K., Duin L.K., Goebel H., Mache C., Thiele H., Bartram M.P., Dombret C., Altmueller J., Nuernberg P. , Benzing T., Levtchenko E., Seyberth H.W., Klaus G., Yigit G., Lin S.H., Timmer A., de Koning T.J., Scherjon S.A., Schlingmann K.P., Bertrand M.J., Rinschen M.M., de Backer O., Konrad M., Koemhoff M.
N. Engl. J. Med. 374:1853-1863(2016) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, INTERACTION WITH GNAS AND DNAJB1, TISSUE SPECIFICITY, INVOLVEMENT IN BARTS5, VARIANTS BARTS5 CYS-446 AND 488-GLU--ALA-491 DEL, CHARACTERIZATION OF VARIANT BARTS5 CYS-446.
Gene expression databases
Bgee dataBase for Gene Expression Evolution More...Bgeei | ENSG00000102316. |
CleanEx database of gene expression profiles More...CleanExi | HS_MAGED2. |
ExpressionAtlas, Differential and Baseline Expression More...ExpressionAtlasi | Q9UNF1. baseline and differential. |
Genevisible search portal to normalized and curated expression data from Genevestigator More...Genevisiblei | Q9UNF1. HS. |
Organism-specific databases
Human Protein Atlas More...HPAi | HPA031572. HPA031573. |
<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 GNAS. May interact with DNAJB1.1 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.26"Polyhydramnios, transient antenatal Bartter's syndrome, and MAGED2 mutations."
Laghmani K., Beck B.B., Yang S.S., Seaayfan E., Wenzel A., Reusch B., Vitzthum H., Priem D., Demaretz S., Bergmann K., Duin L.K., Goebel H., Mache C., Thiele H., Bartram M.P., Dombret C., Altmueller J., Nuernberg P. , Benzing T., Levtchenko E., Seyberth H.W., Klaus G., Yigit G., Lin S.H., Timmer A., de Koning T.J., Scherjon S.A., Schlingmann K.P., Bertrand M.J., Rinschen M.M., de Backer O., Konrad M., Koemhoff M.
N. Engl. J. Med. 374:1853-1863(2016) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, INTERACTION WITH GNAS AND DNAJB1, TISSUE SPECIFICITY, INVOLVEMENT IN BARTS5, VARIANTS BARTS5 CYS-446 AND 488-GLU--ALA-491 DEL, CHARACTERIZATION OF VARIANT BARTS5 CYS-446.
<p>This subsection of the ‘Interaction’ 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 |
|---|---|---|---|---|
| JAK3 | P52333 | 3 | EBI-725832,EBI-518246 |
Protein-protein interaction databases
The Biological General Repository for Interaction Datasets (BioGrid) More...BioGridi | 116121. 83 interactors. |
Database of interacting proteins More...DIPi | DIP-50722N. |
Protein interaction database and analysis system More...IntActi | Q9UNF1. 30 interactors. |
Molecular INTeraction database More...MINTi | MINT-1389350. |
STRING: functional protein association networks More...STRINGi | 9606.ENSP00000218439. |
<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 | Q9UNF1. |
SWISS-MODEL Repository - a database of annotated 3D protein structure models More...SMRi | Q9UNF1. |
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
Domains and Repeats
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini | 279 – 478 | MAGEPROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More…</a></p> Manual assertion according to rulesi Add BLAST | 200 |
Compositional bias
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi | 215 – 258 | Arg-richAdd BLAST | 44 |
Phylogenomic databases
evolutionary genealogy of genes: Non-supervised Orthologous Groups More...eggNOGi | KOG4562. Eukaryota. ENOG4111S70. LUCA. |
Ensembl GeneTree More...GeneTreei | ENSGT00760000118824. |
The HOVERGEN Database of Homologous Vertebrate Genes More...HOVERGENi | HBG003714. |
InParanoid: Eukaryotic Ortholog Groups More...InParanoidi | Q9UNF1. |
Identification of Orthologs from Complete Genome Data More...OMAi | WDEADIG. |
Database of Orthologous Groups More...OrthoDBi | EOG091G09D3. |
Database for complete collections of gene phylogenies More...PhylomeDBi | Q9UNF1. |
TreeFam database of animal gene trees More...TreeFami | TF352132. |
Family and domain databases
Integrated resource of protein families, domains and functional sites More...InterProi | View protein in InterPro IPR028810. MAGED2. IPR002190. MHD_dom. |
The PANTHER Classification System More...PANTHERi | PTHR11736:SF91. PTHR11736:SF91. 1 hit. |
Pfam protein domain database More...Pfami | View protein in Pfam PF01454. MAGE. 1 hit. |
Simple Modular Architecture Research Tool; a protein domain database More...SMARTi | View protein in SMART SM01373. MAGE. 1 hit. |
PROSITE; a protein domain and family database More...PROSITEi | View protein in PROSITE PS50838. MAGE. 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 length and molecular weight.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i
<p>This subsection of the ‘Sequence’ 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.
<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.
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: Q9UNF1-1) [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
MSDTSESGAG LTRFQAEASE KDSSSMMQTL LTVTQNVEVP ETPKASKALE
60 70 80 90 100
VSEDVKVSKA SGVSKATEVS KTPEAREAPA TQASSTTQLT DTQVLAAENK
110 120 130 140 150
SLAADTKKQN ADPQAVTMPA TETKKVSHVA DTKVNTKAQE TEAAPSQAPA
160 170 180 190 200
DEPEPESAAA QSQENQDTRP KVKAKKARKV KHLDGEEDGS SDQSQASGTT
210 220 230 240 250
GGRRVSKALM ASMARRASRG PIAFWARRAS RTRLAAWARR ALLSLRSPKA
260 270 280 290 300
RRGKARRRAA KLQSSQEPEA PPPRDVALLQ GRANDLVKYL LAKDQTKIPI
310 320 330 340 350
KRSDMLKDII KEYTDVYPEI IERAGYSLEK VFGIQLKEID KNDHLYILLS
360 370 380 390 400
TLEPTDAGIL GTTKDSPKLG LLMVLLSIIF MNGNRSSEAV IWEVLRKLGL
410 420 430 440 450
RPGIHHSLFG DVKKLITDEF VKQKYLDYAR VPNSNPPEYE FFWGLRSYYE
460 470 480 490 500
TSKMKVLKFA CKVQKKDPKE WAAQYREAME ADLKAAAEAA AEAKARAEIR
510 520 530 540 550
ARMGIGLGSE NAAGPCNWDE ADIGPWAKAR IQAGAEAKAK AQESGSASTG
560 570 580 590 600
ASTSTNNSAS ASASTSGGFS AGASLTATLT FGLFAGLGGA GASTSGSSGA
CGFSYK
Length:606
Mass (Da):64,954
Last modified:September 26, 2001 - 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:i352FD5BAF5088652
Isoform 2 (identifier: Q9UNF1-2) [UniParc]FASTAAdd to basketAdded to basket
The sequence of this isoform differs from the canonical sequence as follows:
45-62: Missing.
10 20 30 40 50
MSDTSESGAG LTRFQAEASE KDSSSMMQTL LTVTQNVEVP ETPKVSKATE
60 70 80 90 100
VSKTPEAREA PATQASSTTQ LTDTQVLAAE NKSLAADTKK QNADPQAVTM
110 120 130 140 150
PATETKKVSH VADTKVNTKA QETEAAPSQA PADEPEPESA AAQSQENQDT
160 170 180 190 200
RPKVKAKKAR KVKHLDGEED GSSDQSQASG TTGGRRVSKA LMASMARRAS
210 220 230 240 250
RGPIAFWARR ASRTRLAAWA RRALLSLRSP KARRGKARRR AAKLQSSQEP
260 270 280 290 300
EAPPPRDVAL LQGRANDLVK YLLAKDQTKI PIKRSDMLKD IIKEYTDVYP
310 320 330 340 350
EIIERAGYSL EKVFGIQLKE IDKNDHLYIL LSTLEPTDAG ILGTTKDSPK
360 370 380 390 400
LGLLMVLLSI IFMNGNRSSE AVIWEVLRKL GLRPGIHHSL FGDVKKLITD
410 420 430 440 450
EFVKQKYLDY ARVPNSNPPE YEFFWGLRSY YETSKMKVLK FACKVQKKDP
460 470 480 490 500
KEWAAQYREA MEADLKAAAE AAAEAKARAE IRARMGIGLG SENAAGPCNW
510 520 530 540 550
DEADIGPWAK ARIQAGAEAK AKAQESGSAS TGASTSTNNS ASASASTSGG
560 570 580
FSAGASLTAT LTFGLFAGLG GAGASTSGSS GACGFSYK
Note: No experimental confirmation available.
Show »Length:588
Mass (Da):63,167
<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:iAF568E2B27C5765B
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 | 73 | P → S in AAD00728 (Ref. 3) Curated | 1 | |
| <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 | 377 | S → C in BAC03896 (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_053508 | 187 | E → D. Corresponds to variant dbSNP:rs12014977Ensembl. | 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_011639 | 266 | Q → R1 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_076836 | 446 | R → C in BARTS5; loss of interaction with GNAS. 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_036584 | 458 | K → Q in a breast cancer sample; somatic mutation. 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_076837 | 488 – 491 | Missing in BARTS5. 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
| 4 |
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 | AF128527 mRNA. Translation: AAD33392.1. AF128528 mRNA. Translation: AAD33393.1. AF126181 mRNA. Translation: AAD28598.1. AJ293618 mRNA. Translation: CAC19410.1. U92544 mRNA. Translation: AAD00728.1. AF320070 mRNA. Translation: AAG35066.2. AK092463 mRNA. Translation: BAC03896.1. Z98046 Genomic DNA. Translation: CAB10841.1. CH471154 Genomic DNA. Translation: EAW93189.1. BC000304 mRNA. Translation: AAH00304.1. BC091503 mRNA. Translation: AAH91503.1. AF148815 mRNA. Translation: AAF73137.1. AF320907 mRNA. Translation: AAG38603.1. |
The Consensus CDS (CCDS) project More...CCDSi | CCDS14362.1. [Q9UNF1-1] |
NCBI Reference Sequences More...RefSeqi | NP_055414.2. NM_014599.5. [Q9UNF1-1] NP_803182.1. NM_177433.2. [Q9UNF1-1] NP_957516.1. NM_201222.2. [Q9UNF1-1] |
UniGene gene-oriented nucleotide sequence clusters More...UniGenei | Hs.522665. |
Genome annotation databases
Ensembl eukaryotic genome annotation project More...Ensembli | ENST00000218439; ENSP00000218439; ENSG00000102316. [Q9UNF1-1] ENST00000375053; ENSP00000364193; ENSG00000102316. [Q9UNF1-1] ENST00000375058; ENSP00000364198; ENSG00000102316. [Q9UNF1-1] ENST00000375068; ENSP00000364209; ENSG00000102316. [Q9UNF1-1] ENST00000396224; ENSP00000379526; ENSG00000102316. [Q9UNF1-1] |
Database of genes from NCBI RefSeq genomes More...GeneIDi | 10916. |
KEGG: Kyoto Encyclopedia of Genes and Genomes More...KEGGi | hsa:10916. |
UCSC genome browser More...UCSCi | uc004dtk.3. human. [Q9UNF1-1] |
<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
| Entry | Cluster members | Organisms | Length | Cluster ID | Cluster name | Size | |
|---|---|---|---|---|---|---|---|
| Q9UNF1 | A0A024R9Y7 | Homo sapiens (Human) | 606 | UniRef100_Q9UNF1 | Cluster: Melanoma-associated antigen D2 | 2 |
<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 | AF128527 mRNA. Translation: AAD33392.1. AF128528 mRNA. Translation: AAD33393.1. AF126181 mRNA. Translation: AAD28598.1. AJ293618 mRNA. Translation: CAC19410.1. U92544 mRNA. Translation: AAD00728.1. AF320070 mRNA. Translation: AAG35066.2. AK092463 mRNA. Translation: BAC03896.1. Z98046 Genomic DNA. Translation: CAB10841.1. CH471154 Genomic DNA. Translation: EAW93189.1. BC000304 mRNA. Translation: AAH00304.1. BC091503 mRNA. Translation: AAH91503.1. AF148815 mRNA. Translation: AAF73137.1. AF320907 mRNA. Translation: AAG38603.1. |
The Consensus CDS (CCDS) project More...CCDSi | CCDS14362.1. [Q9UNF1-1] |
NCBI Reference Sequences More...RefSeqi | NP_055414.2. NM_014599.5. [Q9UNF1-1] NP_803182.1. NM_177433.2. [Q9UNF1-1] NP_957516.1. NM_201222.2. [Q9UNF1-1] |
UniGene gene-oriented nucleotide sequence clusters More...UniGenei | Hs.522665. |
3D structure databases
Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase More...ProteinModelPortali | Q9UNF1. |
SWISS-MODEL Repository - a database of annotated 3D protein structure models More...SMRi | Q9UNF1. |
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 | 116121. 83 interactors. |
Database of interacting proteins More...DIPi | DIP-50722N. |
Protein interaction database and analysis system More...IntActi | Q9UNF1. 30 interactors. |
Molecular INTeraction database More...MINTi | MINT-1389350. |
STRING: functional protein association networks More...STRINGi | 9606.ENSP00000218439. |
PTM databases
iPTMnet integrated resource for PTMs in systems biology context More...iPTMneti | Q9UNF1. |
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. More...PhosphoSitePlusi | Q9UNF1. |
Polymorphism and mutation databases
BioMuta curated single-nucleotide variation and disease association database More...BioMutai | MAGED2. |
Domain mapping of disease mutations (DMDM) More...DMDMi | 17380153. |
Proteomic databases
Encyclopedia of Proteome Dynamics More...EPDi | Q9UNF1. |
PaxDb, a database of protein abundance averages across all three domains of life More...PaxDbi | Q9UNF1. |
PeptideAtlas More...PeptideAtlasi | Q9UNF1. |
PRoteomics IDEntifications database More...PRIDEi | Q9UNF1. |
Protocols and materials databases
The DNASU plasmid repository More...DNASUi | 10916. |
| Structural Biology Knowledgebase | Search... |
Genome annotation databases
Ensembl eukaryotic genome annotation project More...Ensembli | ENST00000218439; ENSP00000218439; ENSG00000102316. [Q9UNF1-1] ENST00000375053; ENSP00000364193; ENSG00000102316. [Q9UNF1-1] ENST00000375058; ENSP00000364198; ENSG00000102316. [Q9UNF1-1] ENST00000375068; ENSP00000364209; ENSG00000102316. [Q9UNF1-1] ENST00000396224; ENSP00000379526; ENSG00000102316. [Q9UNF1-1] |
Database of genes from NCBI RefSeq genomes More...GeneIDi | 10916. |
KEGG: Kyoto Encyclopedia of Genes and Genomes More...KEGGi | hsa:10916. |
UCSC genome browser More...UCSCi | uc004dtk.3. human. [Q9UNF1-1] |
Organism-specific databases
Comparative Toxicogenomics Database More...CTDi | 10916. |
DisGeNET More...DisGeNETi | 10916. |
GeneCards: human genes, protein and diseases More...GeneCardsi | MAGED2. |
Human Gene Nomenclature Database More...HGNCi | HGNC:16353. MAGED2. |
Human Protein Atlas More...HPAi | HPA031572. HPA031573. |
MalaCards human disease database More...MalaCardsi | MAGED2. |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 300470. gene. 300971. phenotype. |
neXtProt; the human protein knowledge platform More...neXtProti | NX_Q9UNF1. |
Open Targets More...OpenTargetsi | ENSG00000102316. |
The Pharmacogenetics and Pharmacogenomics Knowledge Base More...PharmGKBi | PA30560. |
GenAtlas: human gene database More...GenAtlasi | Search... |
Phylogenomic databases
evolutionary genealogy of genes: Non-supervised Orthologous Groups More...eggNOGi | KOG4562. Eukaryota. ENOG4111S70. LUCA. |
Ensembl GeneTree More...GeneTreei | ENSGT00760000118824. |
The HOVERGEN Database of Homologous Vertebrate Genes More...HOVERGENi | HBG003714. |
InParanoid: Eukaryotic Ortholog Groups More...InParanoidi | Q9UNF1. |
Identification of Orthologs from Complete Genome Data More...OMAi | WDEADIG. |
Database of Orthologous Groups More...OrthoDBi | EOG091G09D3. |
Database for complete collections of gene phylogenies More...PhylomeDBi | Q9UNF1. |
TreeFam database of animal gene trees More...TreeFami | TF352132. |
Enzyme and pathway databases
Reactome - a knowledgebase of biological pathways and processes More...Reactomei | R-HSA-114608. Platelet degranulation. |
Miscellaneous databases
ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data More...ChiTaRSi | MAGED2. human. |
The Gene Wiki collection of pages on human genes and proteins More...GeneWikii | MAGED2. |
Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens More...GenomeRNAii | 10916. |
Protein Ontology More...PROi | PR:Q9UNF1. |
The Stanford Online Universal Resource for Clones and ESTs More...SOURCEi | Search... |
Gene expression databases
Bgee dataBase for Gene Expression Evolution More...Bgeei | ENSG00000102316. |
CleanEx database of gene expression profiles More...CleanExi | HS_MAGED2. |
ExpressionAtlas, Differential and Baseline Expression More...ExpressionAtlasi | Q9UNF1. baseline and differential. |
Genevisible search portal to normalized and curated expression data from Genevestigator More...Genevisiblei | Q9UNF1. HS. |
Family and domain databases
Integrated resource of protein families, domains and functional sites More...InterProi | View protein in InterPro IPR028810. MAGED2. IPR002190. MHD_dom. |
The PANTHER Classification System More...PANTHERi | PTHR11736:SF91. PTHR11736:SF91. 1 hit. |
Pfam protein domain database More...Pfami | View protein in Pfam PF01454. MAGE. 1 hit. |
Simple Modular Architecture Research Tool; a protein domain database More...SMARTi | View protein in SMART SM01373. MAGE. 1 hit. |
PROSITE; a protein domain and family database More...PROSITEi | View protein in PROSITE PS50838. MAGE. 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 | MAGD2_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 | Q9UNF1Primary (citable) accession number: Q9UNF1 Secondary accession number(s): A6NMX0 , O76058, Q5BJF3, Q8NAL6, Q9H218, Q9P0U9, Q9UM52 | |
| <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: | September 26, 2001 |
| Last sequence update: | September 26, 2001 | |
| Last modified: | August 30, 2017 | |
| This is version 147 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
Complete proteome, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome X
Human chromosome X: 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