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Entry version 203 (31 Jul 2019)
Sequence version 2 (01 Jun 2001)
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Protein

Potassium voltage-gated channel subfamily KQT member 2

Gene

KCNQ2

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>

<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

Associates with KCNQ3 to form a potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs. Therefore, it is important in the regulation of neuronal excitability. KCNQ2/KCNQ3 current is blocked by linopirdine and XE991, and activated by the anticonvulsant retigabine (PubMed:9836639, PubMed:11572947, PubMed:14534157, PubMed:12742592, PubMed:17872363). As the native M-channel, the potassium channel composed of KCNQ2 and KCNQ3 is also suppressed by activation of the muscarinic acetylcholine receptor CHRM1 (PubMed:10684873).7 Publications

Miscellaneous

Inclusion of isoform 6 in heteromultimers results in attenuation of potassium current. Prominent expression of isoform 6 in the developing brain may alter firing repertoires of immature neurons excitability to provide cues for proliferation rather than differentiation.

<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

GO - Biological processi

<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 functionIon channel, Potassium channel, Voltage-gated channel
Biological processIon transport, Potassium transport, Transport
LigandPotassium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1296072 Voltage gated Potassium channels
R-HSA-445095 Interaction between L1 and Ankyrins

SIGNOR Signaling Network Open Resource

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SIGNORi
O43526

Protein family/group databases

Transport Classification Database

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TCDBi
1.A.1.15.2 the voltage-gated ion channel (vic) superfamily

<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:
Potassium voltage-gated channel subfamily KQT member 2Curated
Alternative name(s):
KQT-like 2
Neuroblastoma-specific potassium channel subunit alpha KvLQT2
Voltage-gated potassium channel subunit Kv7.2
<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:KCNQ2Imported
<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>OrganismiHomo 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 identifieri9606 [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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 20

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:6296 KCNQ2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
602235 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_O43526

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 domaini1 – 91CytoplasmicSequence analysisAdd BLAST91
<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>Transmembranei92 – 112Helical; Name=Segment S1Sequence analysisAdd BLAST21
Topological domaini113 – 122ExtracellularSequence analysis10
Transmembranei123 – 143Helical; Name=Segment S2Sequence analysisAdd BLAST21
Topological domaini144 – 166CytoplasmicSequence analysisAdd BLAST23
Transmembranei167 – 187Helical; Name=Segment S3Sequence analysisAdd BLAST21
Topological domaini188 – 195ExtracellularSequence analysis8
Transmembranei196 – 218Helical; Voltage-sensor; Name=Segment S4Sequence analysisAdd BLAST23
Topological domaini219 – 231CytoplasmicSequence analysisAdd BLAST13
Transmembranei232 – 252Helical; Name=Segment S5Sequence analysisAdd BLAST21
Topological domaini253 – 264ExtracellularSequence analysisAdd BLAST12
<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>Intramembranei265 – 285Pore-forming; Name=Segment H5Sequence analysisAdd BLAST21
Topological domaini286 – 291ExtracellularSequence analysis6
Transmembranei292 – 312Helical; Name=Segment S6Sequence analysisAdd BLAST21
Topological domaini313 – 872CytoplasmicSequence analysisAdd BLAST560

Keywords - Cellular componenti

Cell membrane, 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

Seizures, benign familial neonatal 1 (BFNS1)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age and show normal psychomotor development. Some rare cases manifest an atypical severe phenotype associated with epileptic encephalopathy and psychomotor retardation. The disorder is distinguished from benign familial infantile seizures by an earlier age at onset. In some patients, neonatal convulsions are followed later in life by myokymia, a benign condition characterized by spontaneous involuntary contractions of skeletal muscles fiber groups that can be observed as vermiform movement of the overlying skin. Electromyography typically shows continuous motor unit activity with spontaneous oligo- and multiplet-discharges of high intraburst frequency (myokymic discharges). Some patients may have isolated myokymia.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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_078658114T → A in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516076EnsemblClinVar.1
Natural variantiVAR_078659154Y → D in BFNS1; with infantile seizures. 1 PublicationCorresponds to variant dbSNP:rs1057516078EnsemblClinVar.1
Natural variantiVAR_078660159G → E in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516081EnsemblClinVar.1
Natural variantiVAR_078661159G → R in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516080EnsemblClinVar.1
Natural variantiVAR_078662196A → V in BFNS1; with infantile seizures. 1 PublicationCorresponds to variant dbSNP:rs118192199EnsemblClinVar.1
Natural variantiVAR_078664204 – 872Missing in BFNS1. 1 PublicationAdd BLAST669
Natural variantiVAR_026987207R → W in BFNS1; phenotype manifestations include myokymia in some patients; leads to a shift of voltage-dependent activation of the channel and a dramatic slowing of activation upon depolarization. 1 PublicationCorresponds to variant dbSNP:rs74315391EnsemblClinVar.1
Natural variantiVAR_026988208M → V in BFNS1; minor effect on maximal current but clearly exhibits a faster rate of deactivation. 1 PublicationCorresponds to variant dbSNP:rs118192201EnsemblClinVar.1
Natural variantiVAR_078666213R → Q in BFNS1 and EIEE7. 2 PublicationsCorresponds to variant dbSNP:rs397514581EnsemblClinVar.1
Natural variantiVAR_078667213R → W in BFNS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs118192203EnsemblClinVar.1
Natural variantiVAR_010929214R → W in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs28939684EnsemblClinVar.1
Natural variantiVAR_078668217T → A in BFNS1; also in patients with infantile seizures. 1 PublicationCorresponds to variant dbSNP:rs1057516089EnsemblClinVar.1
Natural variantiVAR_026989228H → Q in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192204EnsemblClinVar.1
Natural variantiVAR_026990243L → F in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192205EnsemblClinVar.1
Natural variantiVAR_010930284Y → C in BFNS1; 30%-60% reduction of wt current in heteromeric channels. 3 PublicationsCorresponds to variant dbSNP:rs28939683EnsemblClinVar.1
Natural variantiVAR_010931306A → T in BFNS1 and EIEE7; 20%-40% reduction of wt current in heteromeric channels. 4 PublicationsCorresponds to variant dbSNP:rs74315390EnsemblClinVar.1
Natural variantiVAR_026992333R → Q in BFNS1; moderate effect; less than 50% reduction in current compared with wt heteromeric channels. 1 PublicationCorresponds to variant dbSNP:rs118192216EnsemblClinVar.1
Natural variantiVAR_078671353R → G in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192218EnsemblClinVar.1
Natural variantiVAR_078672358S → F in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516110EnsemblClinVar.1
Natural variantiVAR_078673448 – 872Missing in BFNS1; with infantile seizures. 2 PublicationsAdd BLAST425
Natural variantiVAR_078674547R → W in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs796052650EnsemblClinVar.1
Natural variantiVAR_026993554K → N in BFNS1 and EIEE7; decreases the voltage-dependence of the channel. 1 PublicationCorresponds to variant dbSNP:rs267607198EnsemblClinVar.1
Natural variantiVAR_078677578M → V in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516123EnsemblClinVar.1
Natural variantiVAR_078678581 – 872Missing in BFNS1. 2 PublicationsAdd BLAST292
Natural variantiVAR_078679588R → S in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192237EnsemblClinVar.1
Natural variantiVAR_078680637L → R in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192240EnsemblClinVar.1
Epileptic encephalopathy, early infantile, 7 (EIEE7)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078663201R → C in EIEE7; gain-of-function mutation; results in loss of voltage-dependent channel gating and highly increased potassium currents. 2 PublicationsCorresponds to variant dbSNP:rs796052623EnsemblClinVar.1
Natural variantiVAR_078665210R → C in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs796052626EnsemblClinVar.1
Natural variantiVAR_078666213R → Q in BFNS1 and EIEE7. 2 PublicationsCorresponds to variant dbSNP:rs397514581EnsemblClinVar.1
Natural variantiVAR_078669234T → P in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057516091EnsemblClinVar.1
Natural variantiVAR_026991247S → W in EIEE7; reduces channel currents by more than 50% in homomeric channels. 1 PublicationCorresponds to variant dbSNP:rs74315392EnsemblClinVar.1
Natural variantiVAR_078207266D → E in EIEE7; patient also manifests dyskinesia. 1 PublicationCorresponds to variant dbSNP:rs1057519536EnsemblClinVar.1
Natural variantiVAR_078208268L → F in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057516094EnsemblClinVar.1
Natural variantiVAR_078670276T → I in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057516095EnsemblClinVar.1
Natural variantiVAR_078209291R → S in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057519535EnsemblClinVar.1
Natural variantiVAR_078210294A → V in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs118192211EnsemblClinVar.1
Natural variantiVAR_078211301G → S in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057516099EnsemblClinVar.1
Natural variantiVAR_010931306A → T in BFNS1 and EIEE7; 20%-40% reduction of wt current in heteromeric channels. 4 PublicationsCorresponds to variant dbSNP:rs74315390EnsemblClinVar.1
Natural variantiVAR_026993554K → N in BFNS1 and EIEE7; decreases the voltage-dependence of the channel. 1 PublicationCorresponds to variant dbSNP:rs267607198EnsemblClinVar.1
Natural variantiVAR_078675561P → S in EIEE7. 1 Publication1
Natural variantiVAR_078676578 – 579ML → IM in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs796052665Ensembl.2
Natural variantiVAR_078212581R → Q in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs118192235EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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>Mutagenesisi52S → E: 40% increase in potassium current amplitude. Ratio of 1:1. 1 Publication1
Mutagenesisi52S → Q: Decrease of PKA stimulation. Ratio of 1:1. 1 Publication1
Mutagenesisi217T → A: No effect on current or expression. 1 Publication1
Mutagenesisi217T → D: Abolishes currents without reducing channel protein expression. 1 Publication1
Mutagenesisi279G → S: More than 50% reduction of wt heteromeric current. Ratio of 1:1 and 1:1:2. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

DisGeNET

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DisGeNETi
3785

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
KCNQ2

MalaCards human disease database

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MalaCardsi
KCNQ2
MIMi121200 phenotype
613720 phenotype

Open Targets

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OpenTargetsi
ENSG00000075043

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
306 Benign familial infantile epilepsy
1949 Benign familial neonatal epilepsy
140927 Benign familial neonatal-infantile seizures
439218 KCNQ2-related epileptic encephalopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA30074

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL2476

Drug and drug target database

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DrugBanki
DB00321 Amitriptyline
DB00586 Diclofenac
DB04953 Ezogabine
DB06089 ICA-105665
DB00939 Meclofenamic acid

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
561

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
KCNQ2

<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 keyPosition(s)DescriptionActionsGraphical viewLength
<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_00000540301 – 872Potassium voltage-gated channel subfamily KQT member 2Add BLAST872

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 residuei52Phosphoserine; by PKA1 Publication1
Modified residuei217Phosphothreonine1 Publication1
Modified residuei466PhosphoserineBy similarity1
Modified residuei468PhosphoserineBy similarity1
Modified residuei472PhosphoserineBy similarity1
Modified residuei476PhosphoserineBy similarity1
Modified residuei478PhosphoserineBy similarity1
Modified residuei507PhosphoserineBy similarity1
Modified residuei672PhosphoserineBy similarity1
Modified residuei801PhosphoserineBy similarity1
Modified residuei803PhosphoserineBy similarity1

<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

KCNQ2/KCNQ3 heteromeric current can be increased by intracellular cyclic AMP, an effect that depends on phosphorylation of Ser-52 in the N-terminal region.2 Publications
KCNQ2/KCNQ3 are ubiquitinated by NEDD4L. Ubiquitination leads to protein degradation (Probable). Degradation induced by NEDD4L is inhibited by USP36 (PubMed:27445338).1 Publication1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O43526

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
O43526

PeptideAtlas

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PeptideAtlasi
O43526

PRoteomics IDEntifications database

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PRIDEi
O43526

ProteomicsDB human proteome resource

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ProteomicsDBi
49031 [O43526-1]
49032 [O43526-2]
49033 [O43526-3]
49034 [O43526-4]
49035 [O43526-5]
49036 [O43526-6]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O43526

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
O43526

<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">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

In adult and fetal brain. Highly expressed in areas containing neuronal cell bodies, low in spinal chord and corpus callosum. Isoform 2 is preferentially expressed in differentiated neurons. Isoform 6 is prominent in fetal brain, undifferentiated neuroblastoma cells and brain tumors.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000075043 Expressed in 112 organ(s), highest expression level in right hemisphere of cerebellum

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O43526 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O43526 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA016642
HPA057112

<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

Heterotetramer with KCNQ3; form the heterotetrameric M potassium channel (PubMed:9836639, PubMed:27564677).

Interacts with calmodulin; the interaction is calcium-independent, constitutive and participates to the proper assembly of a functional heterotetrameric M channel (PubMed:27564677). May associate with KCNE2 (PubMed:11034315).

Interacts with IQCJ-SCHIP1 (By similarity).

By similarity3 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
109986, 7 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O43526

Protein interaction database and analysis system

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IntActi
O43526, 2 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000352035

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
O43526

<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

Secondary structure

1872
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O43526

Database of comparative protein structure models

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ModBasei
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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni317 – 539Mediates interaction with calmodulin1 PublicationAdd BLAST223

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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>Motifi277 – 282Selectivity filterBy similarity6

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.By similarity

<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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1419 Eukaryota
COG1226 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000160093

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O43526

KEGG Orthology (KO)

More...
KOi
K04927

Identification of Orthologs from Complete Genome Data

More...
OMAi
MGQKNFS

Database of Orthologous Groups

More...
OrthoDBi
903831at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O43526

TreeFam database of animal gene trees

More...
TreeFami
TF315186

Family and domain databases

Conserved Domains Database

More...
CDDi
cd06174 MFS, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR020969 Ankyrin-G_BS
IPR005821 Ion_trans_dom
IPR003937 K_chnl_volt-dep_KCNQ
IPR003947 K_chnl_volt-dep_KCNQ2
IPR013821 K_chnl_volt-dep_KCNQ_C
IPR020846 MFS_dom
IPR028325 VG_K_chnl

The PANTHER Classification System

More...
PANTHERi
PTHR11537 PTHR11537, 1 hit
PTHR11537:SF6 PTHR11537:SF6, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00520 Ion_trans, 1 hit
PF03520 KCNQ_channel, 1 hit
PF11956 KCNQC3-Ank-G_bd, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR01461 KCNQ2CHANNEL
PR01459 KCNQCHANNEL

<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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6+)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 6 <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 basket
Note: Additional isoforms seem to exist.

This entry has 6 described isoforms and 20 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O43526-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MVQKSRNGGV YPGPSGEKKL KVGFVGLDPG APDSTRDGAL LIAGSEAPKR
60 70 80 90 100
GSILSKPRAG GAGAGKPPKR NAFYRKLQNF LYNVLERPRG WAFIYHAYVF
110 120 130 140 150
LLVFSCLVLS VFSTIKEYEK SSEGALYILE IVTIVVFGVE YFVRIWAAGC
160 170 180 190 200
CCRYRGWRGR LKFARKPFCV IDIMVLIASI AVLAAGSQGN VFATSALRSL
210 220 230 240 250
RFLQILRMIR MDRRGGTWKL LGSVVYAHSK ELVTAWYIGF LCLILASFLV
260 270 280 290 300
YLAEKGENDH FDTYADALWW GLITLTTIGY GDKYPQTWNG RLLAATFTLI
310 320 330 340 350
GVSFFALPAG ILGSGFALKV QEQHRQKHFE KRRNPAAGLI QSAWRFYATN
360 370 380 390 400
LSRTDLHSTW QYYERTVTVP MYSSQTQTYG ASRLIPPLNQ LELLRNLKSK
410 420 430 440 450
SGLAFRKDPP PEPSPSKGSP CRGPLCGCCP GRSSQKVSLK DRVFSSPRGV
460 470 480 490 500
AAKGKGSPQA QTVRRSPSAD QSLEDSPSKV PKSWSFGDRS RARQAFRIKG
510 520 530 540 550
AASRQNSEEA SLPGEDIVDD KSCPCEFVTE DLTPGLKVSI RAVCVMRFLV
560 570 580 590 600
SKRKFKESLR PYDVMDVIEQ YSAGHLDMLS RIKSLQSRVD QIVGRGPAIT
610 620 630 640 650
DKDRTKGPAE AELPEDPSMM GRLGKVEKQV LSMEKKLDFL VNIYMQRMGI
660 670 680 690 700
PPTETEAYFG AKEPEPAPPY HSPEDSREHV DRHGCIVKIV RSSSSTGQKN
710 720 730 740 750
FSAPPAAPPV QCPPSTSWQP QSHPRQGHGT SPVGDHGSLV RIPPPPAHER
760 770 780 790 800
SLSAYGGGNR ASMEFLRQED TPGCRPPEGN LRDSDTSISI PSVDHEELER
810 820 830 840 850
SFSGFSISQS KENLDALNSC YAAVAPCAKV RPYIAEGESD TDSDLCTPCG
860 870
PPPRSATGEG PFGDVGWAGP RK
Length:872
Mass (Da):95,848
Last modified:June 1, 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:i22E8A0880A27B58C
GO
Isoform 2 (identifier: O43526-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     417-434: Missing.

Show »
Length:854
Mass (Da):94,100
Checksum:iCF3F5EC2E23E21FC
GO
Isoform 3 (identifier: O43526-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     373-382: Missing.
     417-434: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:844
Mass (Da):93,089
Checksum:i5228E1B8C3D8C17F
GO
Isoform 4 (identifier: O43526-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     417-446: Missing.
     509-509: Missing.

Show »
Length:841
Mass (Da):92,596
Checksum:i065E37AF63726B10
GO
Isoform 5 (identifier: O43526-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     310-320: Missing.
     417-434: Missing.

Show »
Length:843
Mass (Da):93,057
Checksum:iAF6F5146789F4167
GO
Isoform 6 (identifier: O43526-6) [UniParc]FASTAAdd to basket
Also known as: HNSPC

The sequence of this isoform differs from the canonical sequence as follows:
     373-393: SSQTQTYGASRLIPPLNQLEL → RYRRRAPATKQLFHFLFSICS
     394-872: Missing.

Show »
Length:393
Mass (Da):44,261
Checksum:i9415BC4FC2F84675
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 20 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GW14A0A1B0GW14_HUMAN
Potassium voltage-gated channel sub...
KCNQ2
671Annotation score:

Annotation score:2 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>
A0A0G2JQG6A0A0G2JQG6_HUMAN
Potassium voltage-gated channel sub...
KCNQ2
370Annotation score:

Annotation score:2 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>
A0A0G2JQC9A0A0G2JQC9_HUMAN
Potassium voltage-gated channel sub...
KCNQ2
380Annotation score:

Annotation score:2 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>
A0A0G2JR54A0A0G2JR54_HUMAN
Potassium voltage-gated channel sub...
KCNQ2
410Annotation score:

Annotation score:2 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>
A0A0G2JRU6A0A0G2JRU6_HUMAN
Potassium voltage-gated channel sub...
KCNQ2
392Annotation score:

Annotation score:2 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>
A0A0G2JRN9A0A0G2JRN9_HUMAN
Potassium voltage-gated channel sub...
KCNQ2
382Annotation score:

Annotation score:2 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>
Q4VXP6Q4VXP6_HUMAN
Potassium voltage-gated channel sub...
KCNQ2
766Annotation score:

Annotation score:1 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>
A0A0D9SG49A0A0D9SG49_HUMAN
Potassium voltage-gated channel sub...
KCNQ2
730Annotation score:

Annotation score:1 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>
A0A0D9SF10A0A0D9SF10_HUMAN
Potassium voltage-gated channel sub...
KCNQ2
645Annotation score:

Annotation score:1 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>
A0A0D9SEV1A0A0D9SEV1_HUMAN
Potassium voltage-gated channel sub...
KCNQ2
754Annotation score:

Annotation score:1 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>
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 conflicti699K → E in AAD16988 (PubMed:9836639).Curated1
Sequence conflicti854R → C in AAD16988 (PubMed:9836639).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078658114T → A in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516076EnsemblClinVar.1
Natural variantiVAR_078659154Y → D in BFNS1; with infantile seizures. 1 PublicationCorresponds to variant dbSNP:rs1057516078EnsemblClinVar.1
Natural variantiVAR_078660159G → E in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516081EnsemblClinVar.1
Natural variantiVAR_078661159G → R in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516080EnsemblClinVar.1
Natural variantiVAR_078662196A → V in BFNS1; with infantile seizures. 1 PublicationCorresponds to variant dbSNP:rs118192199EnsemblClinVar.1
Natural variantiVAR_078663201R → C in EIEE7; gain-of-function mutation; results in loss of voltage-dependent channel gating and highly increased potassium currents. 2 PublicationsCorresponds to variant dbSNP:rs796052623EnsemblClinVar.1
Natural variantiVAR_078664204 – 872Missing in BFNS1. 1 PublicationAdd BLAST669
Natural variantiVAR_043819207R → Q Found in a patient with isolated myokymia; leads to a shift of voltage-dependent activation. 1 PublicationCorresponds to variant dbSNP:rs118192200EnsemblClinVar.1
Natural variantiVAR_026987207R → W in BFNS1; phenotype manifestations include myokymia in some patients; leads to a shift of voltage-dependent activation of the channel and a dramatic slowing of activation upon depolarization. 1 PublicationCorresponds to variant dbSNP:rs74315391EnsemblClinVar.1
Natural variantiVAR_026988208M → V in BFNS1; minor effect on maximal current but clearly exhibits a faster rate of deactivation. 1 PublicationCorresponds to variant dbSNP:rs118192201EnsemblClinVar.1
Natural variantiVAR_078665210R → C in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs796052626EnsemblClinVar.1
Natural variantiVAR_078666213R → Q in BFNS1 and EIEE7. 2 PublicationsCorresponds to variant dbSNP:rs397514581EnsemblClinVar.1
Natural variantiVAR_078667213R → W in BFNS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs118192203EnsemblClinVar.1
Natural variantiVAR_010929214R → W in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs28939684EnsemblClinVar.1
Natural variantiVAR_078668217T → A in BFNS1; also in patients with infantile seizures. 1 PublicationCorresponds to variant dbSNP:rs1057516089EnsemblClinVar.1
Natural variantiVAR_026989228H → Q in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192204EnsemblClinVar.1
Natural variantiVAR_078669234T → P in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057516091EnsemblClinVar.1
Natural variantiVAR_026990243L → F in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192205EnsemblClinVar.1
Natural variantiVAR_026991247S → W in EIEE7; reduces channel currents by more than 50% in homomeric channels. 1 PublicationCorresponds to variant dbSNP:rs74315392EnsemblClinVar.1
Natural variantiVAR_078207266D → E in EIEE7; patient also manifests dyskinesia. 1 PublicationCorresponds to variant dbSNP:rs1057519536EnsemblClinVar.1
Natural variantiVAR_078208268L → F in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057516094EnsemblClinVar.1
Natural variantiVAR_078670276T → I in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057516095EnsemblClinVar.1
Natural variantiVAR_010930284Y → C in BFNS1; 30%-60% reduction of wt current in heteromeric channels. 3 PublicationsCorresponds to variant dbSNP:rs28939683EnsemblClinVar.1
Natural variantiVAR_078209291R → S in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057519535EnsemblClinVar.1
Natural variantiVAR_078210294A → V in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs118192211EnsemblClinVar.1
Natural variantiVAR_078211301G → S in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057516099EnsemblClinVar.1
Natural variantiVAR_010931306A → T in BFNS1 and EIEE7; 20%-40% reduction of wt current in heteromeric channels. 4 PublicationsCorresponds to variant dbSNP:rs74315390EnsemblClinVar.1
Natural variantiVAR_026992333R → Q in BFNS1; moderate effect; less than 50% reduction in current compared with wt heteromeric channels. 1 PublicationCorresponds to variant dbSNP:rs118192216EnsemblClinVar.1
Natural variantiVAR_078671353R → G in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192218EnsemblClinVar.1
Natural variantiVAR_078672358S → F in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516110EnsemblClinVar.1
Natural variantiVAR_078673448 – 872Missing in BFNS1; with infantile seizures. 2 PublicationsAdd BLAST425
Natural variantiVAR_078674547R → W in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs796052650EnsemblClinVar.1
Natural variantiVAR_026993554K → N in BFNS1 and EIEE7; decreases the voltage-dependence of the channel. 1 PublicationCorresponds to variant dbSNP:rs267607198EnsemblClinVar.1
Natural variantiVAR_078675561P → S in EIEE7. 1 Publication1
Natural variantiVAR_078676578 – 579ML → IM in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs796052665Ensembl.2
Natural variantiVAR_078677578M → V in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516123EnsemblClinVar.1
Natural variantiVAR_078678581 – 872Missing in BFNS1. 2 PublicationsAdd BLAST292
Natural variantiVAR_078212581R → Q in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs118192235EnsemblClinVar.1
Natural variantiVAR_078679588R → S in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192237EnsemblClinVar.1
Natural variantiVAR_078680637L → R in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192240EnsemblClinVar.1
Natural variantiVAR_078213777P → S Found in a patient with continuous spikes and waves during sleep; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs748400155EnsemblClinVar.1
Natural variantiVAR_010932780N → T1 PublicationCorresponds to variant dbSNP:rs1801475EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_000984310 – 320Missing in isoform 5. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_000986373 – 393SSQTQ…NQLEL → RYRRRAPATKQLFHFLFSIC S in isoform 6. 2 PublicationsAdd BLAST21
Alternative sequenceiVSP_000985373 – 382Missing in isoform 3. 1 Publication10
Alternative sequenceiVSP_000987394 – 872Missing in isoform 6. 2 PublicationsAdd BLAST479
Alternative sequenceiVSP_000989417 – 446Missing in isoform 4. 1 PublicationAdd BLAST30
Alternative sequenceiVSP_000988417 – 434Missing in isoform 2, isoform 3 and isoform 5. 3 PublicationsAdd BLAST18
Alternative sequenceiVSP_000990509Missing in isoform 4. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
D82346 mRNA Translation: BAA11557.1
AF033348 mRNA Translation: AAB97315.1
Y15065 mRNA Translation: CAA75348.1
AF110020 mRNA Translation: AAD16988.1
AF074247 mRNA Translation: AAC25921.1
AL121827 Genomic DNA No translation available.
AL121829 Genomic DNA No translation available.
AL353658 Genomic DNA No translation available.
BC000699 mRNA Translation: AAH00699.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS13518.1 [O43526-3]
CCDS13519.1 [O43526-2]
CCDS13520.1 [O43526-1]
CCDS13521.1 [O43526-6]
CCDS46629.1 [O43526-4]

Protein sequence database of the Protein Information Resource

More...
PIRi
JC5275

NCBI Reference Sequences

More...
RefSeqi
NP_004509.2, NM_004518.5 [O43526-3]
NP_742104.1, NM_172106.2 [O43526-2]
NP_742105.1, NM_172107.3 [O43526-1]
NP_742106.1, NM_172108.4 [O43526-4]
NP_742107.1, NM_172109.2 [O43526-6]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000344425; ENSP00000345523; ENSG00000075043 [O43526-6]
ENST00000344462; ENSP00000339611; ENSG00000075043 [O43526-4]
ENST00000359125; ENSP00000352035; ENSG00000075043 [O43526-1]
ENST00000360480; ENSP00000353668; ENSG00000075043 [O43526-3]
ENST00000626839; ENSP00000486706; ENSG00000075043 [O43526-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
3785

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:3785

UCSC genome browser

More...
UCSCi
uc002yey.2 human [O43526-1]

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

<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:
EMBLi
GenBanki
DDBJi
Links Updated
D82346 mRNA Translation: BAA11557.1
AF033348 mRNA Translation: AAB97315.1
Y15065 mRNA Translation: CAA75348.1
AF110020 mRNA Translation: AAD16988.1
AF074247 mRNA Translation: AAC25921.1
AL121827 Genomic DNA No translation available.
AL121829 Genomic DNA No translation available.
AL353658 Genomic DNA No translation available.
BC000699 mRNA Translation: AAH00699.1
CCDSiCCDS13518.1 [O43526-3]
CCDS13519.1 [O43526-2]
CCDS13520.1 [O43526-1]
CCDS13521.1 [O43526-6]
CCDS46629.1 [O43526-4]
PIRiJC5275
RefSeqiNP_004509.2, NM_004518.5 [O43526-3]
NP_742104.1, NM_172106.2 [O43526-2]
NP_742105.1, NM_172107.3 [O43526-1]
NP_742106.1, NM_172108.4 [O43526-4]
NP_742107.1, NM_172109.2 [O43526-6]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5J03X-ray2.00A530-557[»]
6FEGNMR-A326-372[»]
6FEHNMR-A326-372[»]
SMRiO43526
ModBaseiSearch...

Protein-protein interaction databases

BioGridi109986, 7 interactors
CORUMiO43526
IntActiO43526, 2 interactors
STRINGi9606.ENSP00000352035

Chemistry databases

BindingDBiO43526
ChEMBLiCHEMBL2476
DrugBankiDB00321 Amitriptyline
DB00586 Diclofenac
DB04953 Ezogabine
DB06089 ICA-105665
DB00939 Meclofenamic acid
GuidetoPHARMACOLOGYi561

Protein family/group databases

TCDBi1.A.1.15.2 the voltage-gated ion channel (vic) superfamily

PTM databases

iPTMnetiO43526
PhosphoSitePlusiO43526

Polymorphism and mutation databases

BioMutaiKCNQ2

Proteomic databases

jPOSTiO43526
PaxDbiO43526
PeptideAtlasiO43526
PRIDEiO43526
ProteomicsDBi49031 [O43526-1]
49032 [O43526-2]
49033 [O43526-3]
49034 [O43526-4]
49035 [O43526-5]
49036 [O43526-6]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
3785
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000344425; ENSP00000345523; ENSG00000075043 [O43526-6]
ENST00000344462; ENSP00000339611; ENSG00000075043 [O43526-4]
ENST00000359125; ENSP00000352035; ENSG00000075043 [O43526-1]
ENST00000360480; ENSP00000353668; ENSG00000075043 [O43526-3]
ENST00000626839; ENSP00000486706; ENSG00000075043 [O43526-2]
GeneIDi3785
KEGGihsa:3785
UCSCiuc002yey.2 human [O43526-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
3785
DisGeNETi3785

GeneCards: human genes, protein and diseases

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GeneCardsi
KCNQ2
GeneReviewsiKCNQ2
HGNCiHGNC:6296 KCNQ2
HPAiHPA016642
HPA057112
MalaCardsiKCNQ2
MIMi121200 phenotype
602235 gene
613720 phenotype
neXtProtiNX_O43526
OpenTargetsiENSG00000075043
Orphaneti306 Benign familial infantile epilepsy
1949 Benign familial neonatal epilepsy
140927 Benign familial neonatal-infantile seizures
439218 KCNQ2-related epileptic encephalopathy
PharmGKBiPA30074

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG1419 Eukaryota
COG1226 LUCA
GeneTreeiENSGT00940000160093
InParanoidiO43526
KOiK04927
OMAiMGQKNFS
OrthoDBi903831at2759
PhylomeDBiO43526
TreeFamiTF315186

Enzyme and pathway databases

ReactomeiR-HSA-1296072 Voltage gated Potassium channels
R-HSA-445095 Interaction between L1 and Ankyrins
SIGNORiO43526

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
KCNQ2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
KvLQT2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
3785

Protein Ontology

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PROi
PR:O43526

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000075043 Expressed in 112 organ(s), highest expression level in right hemisphere of cerebellum
ExpressionAtlasiO43526 baseline and differential
GenevisibleiO43526 HS

Family and domain databases

CDDicd06174 MFS, 1 hit
InterProiView protein in InterPro
IPR020969 Ankyrin-G_BS
IPR005821 Ion_trans_dom
IPR003937 K_chnl_volt-dep_KCNQ
IPR003947 K_chnl_volt-dep_KCNQ2
IPR013821 K_chnl_volt-dep_KCNQ_C
IPR020846 MFS_dom
IPR028325 VG_K_chnl
PANTHERiPTHR11537 PTHR11537, 1 hit
PTHR11537:SF6 PTHR11537:SF6, 1 hit
PfamiView protein in Pfam
PF00520 Ion_trans, 1 hit
PF03520 KCNQ_channel, 1 hit
PF11956 KCNQC3-Ank-G_bd, 1 hit
PRINTSiPR01461 KCNQ2CHANNEL
PR01459 KCNQCHANNEL

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiKCNQ2_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>AccessioniPrimary (citable) accession number: O43526
Secondary accession number(s): O43796
, O75580, O95845, Q4VXP4, Q4VXR6, Q5VYT8, Q96J59, Q99454
<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 historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 2001
Last sequence update: June 1, 2001
Last modified: July 31, 2019
This is version 203 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 statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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