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Protein

Potassium voltage-gated channel subfamily KQT member 4

Gene

KCNQ4

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

Probably important in the regulation of neuronal excitability. May underlie a potassium current involved in regulating the excitability of sensory cells of the cochlea. KCNQ4 channels are blocked by linopirdin, XE991 and bepridil, whereas clofilium is without significant effect. Muscarinic agonist oxotremorine-M strongly suppress KCNQ4 current in CHO cells in which cloned KCNQ4 channels were coexpressed with M1 muscarinic receptors.

Miscellaneous

Mutagenesis experiments were carried out by expressing in Xenopus oocytes KCNQ4 mutants either individually (homomultimers) or in combination with wild-type KCNQ4 (mut/wt homomultimers) in a ratio of 1:1, to mimic the situation in a heterozygous DFNA2 patient.

<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

  • calmodulin binding Source: GO_Central
  • delayed rectifier potassium channel activity Source: GO_Central
  • potassium channel activity Source: ProtInc
  • voltage-gated potassium channel activity Source: GO_Central

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 processHearing, Ion 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

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.A.1.15.4 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 4
Alternative name(s):
KQT-like 4
Potassium channel subunit alpha KvLQT4
Voltage-gated potassium channel subunit Kv7.4
<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:KCNQ4
<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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000117013.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:6298 KCNQ4

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603537 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P56696

<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; 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 – 97CytoplasmicSequence analysisAdd BLAST97
<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>Transmembranei98 – 118Helical; Name=Segment S1Sequence analysisAdd BLAST21
Topological domaini119 – 131ExtracellularSequence analysisAdd BLAST13
Transmembranei132 – 152Helical; Name=Segment S2Sequence analysisAdd BLAST21
Topological domaini153 – 172CytoplasmicSequence analysisAdd BLAST20
Transmembranei173 – 193Helical; Name=Segment S3Sequence analysisAdd BLAST21
Topological domaini194 – 201ExtracellularSequence analysis8
Transmembranei202 – 224Helical; Voltage-sensor; Name=Segment S4Sequence analysisAdd BLAST23
Topological domaini225 – 237CytoplasmicSequence analysisAdd BLAST13
Transmembranei238 – 258Helical; Name=Segment S5Sequence analysisAdd BLAST21
Topological domaini259 – 270ExtracellularSequence 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>Intramembranei271 – 292Pore-forming; Name=Segment H5Sequence analysisAdd BLAST22
Topological domaini293 – 296ExtracellularSequence analysis4
Transmembranei297 – 317Helical; Name=Segment S6Sequence analysisAdd BLAST21
Topological domaini318 – 695CytoplasmicSequence analysisAdd BLAST378

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

Deafness, autosomal dominant, 2A (DFNA2A)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
See also OMIM:600101
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_010936274L → H in DFNA2A. 1 PublicationCorresponds to variant dbSNP:rs80358276EnsemblClinVar.1
Natural variantiVAR_008726276W → S in DFNA2A. 1 PublicationCorresponds to variant dbSNP:rs80358277EnsemblClinVar.1
Natural variantiVAR_010937281L → S in DFNA2A. 1 PublicationCorresponds to variant dbSNP:rs80358278EnsemblClinVar.1
Natural variantiVAR_008727285G → C in DFNA2A; loss of potassium selectivity of the pore. 1 PublicationCorresponds to variant dbSNP:rs28937588EnsemblClinVar.1
Natural variantiVAR_001547285G → S in DFNA2A; dominant negative effect; abolishes potassium current. 1 PublicationCorresponds to variant dbSNP:rs28937588EnsemblClinVar.1
Natural variantiVAR_065779287G → R in DFNA2A. 1 PublicationCorresponds to variant dbSNP:rs137853969EnsemblClinVar.1
Natural variantiVAR_008728321G → S in DFNA2A. 1 PublicationCorresponds to variant dbSNP:rs28939710EnsemblClinVar.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>Mutagenesisi123E → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication1
Mutagenesisi124H → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication1
Mutagenesisi125Q → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication1
Mutagenesisi126E → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication1
Mutagenesisi194Q → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication1
Mutagenesisi196N → Q: No effect on inhibition by potassium channel toxin SsTX. 1 Publication1
Mutagenesisi205S → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication1
Mutagenesisi210Q → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication1
Mutagenesisi213R → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication1
Mutagenesisi216R → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication1
Mutagenesisi261K → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication1
Mutagenesisi262D → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication1
Mutagenesisi266D → G: Resistant to inhibition by potassium channel toxin SsTX. Normal voltage activation. 1 Publication1
Mutagenesisi268S → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication1
Mutagenesisi272D → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication1
Mutagenesisi288D → G: Resistant to inhibition by potassium channel toxin SsTX. Normal voltage activation. 1 Publication1
Mutagenesisi290T → V: No effect on inhibition by potassium channel toxin SsTX. 1 Publication1
Mutagenesisi292H → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication1
Mutagenesisi295L → V: No effect on inhibition by potassium channel toxin SsTX. 1 Publication1
Mutagenesisi298V → T: No effect on inhibition by potassium channel toxin SsTX. 1 Publication1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNET

More...
DisGeNETi
9132

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

More...
GeneReviewsi
KCNQ4

MalaCards human disease database

More...
MalaCardsi
KCNQ4
MIMi600101 phenotype

Open Targets

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OpenTargetsi
ENSG00000117013

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

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Orphaneti
90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA30076

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3576

Drug and drug target database

More...
DrugBanki
DB04953 Ezogabine
DB06089 ICA-105665

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
563

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
KCNQ4

Domain mapping of disease mutations (DMDM)

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DMDMi
259016259

<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_00000540371 – 695Potassium voltage-gated channel subfamily KQT member 4Add BLAST695

Proteomic databases

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

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PaxDbi
P56696

PeptideAtlas

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PeptideAtlasi
P56696

PRoteomics IDEntifications database

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PRIDEi
P56696

ProteomicsDB human proteome resource

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ProteomicsDBi
56934
56935 [P56696-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P56696

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

More...
PhosphoSitePlusi
P56696

<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

Expressed in the outer, but not the inner, sensory hair cells of the cochlea. Slightly expressed in heart, brain and skeletal muscle.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000117013 Expressed in 128 organ(s), highest expression level in pigmented layer of retina

CleanEx database of gene expression profiles

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CleanExi
HS_KCNQ4

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P56696 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P56696 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA018305

<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

Homotetramer. May form heteromultimers with KCNQ3. Interacts with HSP90AB1; promotes cell surface expression of KCNQ4 (PubMed:23431407).2 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
114580, 6 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P56696

STRING: functional protein association networks

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STRINGi
9606.ENSP00000262916

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P56696

<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

1695
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P56696

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

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SMRi
P56696

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P56696

<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>Regioni546 – 650A-domain (Tetramerization)Add BLAST105

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili610 – 645Add BLAST36

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>Motifi283 – 288Selectivity 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
The A-domain tail carries the major determinants of channel assembly specificity. Its coiled-coil region is Four-stranded.1 Publication

<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

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1419 Eukaryota
COG1226 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159209

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000220839

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG059014

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P56696

KEGG Orthology (KO)

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KOi
K04929

Identification of Orthologs from Complete Genome Data

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OMAi
HQEFANE

Database of Orthologous Groups

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OrthoDBi
EOG091G02ZT

Database for complete collections of gene phylogenies

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PhylomeDBi
P56696

TreeFam database of animal gene trees

More...
TreeFami
TF315186

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR005821 Ion_trans_dom
IPR003937 K_chnl_volt-dep_KCNQ
IPR013821 K_chnl_volt-dep_KCNQ_C
IPR015573 KCQN4
IPR028325 VG_K_chnl

The PANTHER Classification System

More...
PANTHERi
PTHR11537 PTHR11537, 1 hit
PTHR11537:SF4 PTHR11537:SF4, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00520 Ion_trans, 1 hit
PF03520 KCNQ_channel, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00169 KCHANNEL
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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: P56696-1) [UniParc]FASTAAdd to basket

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.

« Hide
        10         20         30         40         50
MAEAPPRRLG LGPPPGDAPR AELVALTAVQ SEQGEAGGGG SPRRLGLLGS
60 70 80 90 100
PLPPGAPLPG PGSGSGSACG QRSSAAHKRY RRLQNWVYNV LERPRGWAFV
110 120 130 140 150
YHVFIFLLVF SCLVLSVLST IQEHQELANE CLLILEFVMI VVFGLEYIVR
160 170 180 190 200
VWSAGCCCRY RGWQGRFRFA RKPFCVIDFI VFVASVAVIA AGTQGNIFAT
210 220 230 240 250
SALRSMRFLQ ILRMVRMDRR GGTWKLLGSV VYAHSKELIT AWYIGFLVLI
260 270 280 290 300
FASFLVYLAE KDANSDFSSY ADSLWWGTIT LTTIGYGDKT PHTWLGRVLA
310 320 330 340 350
AGFALLGISF FALPAGILGS GFALKVQEQH RQKHFEKRRM PAANLIQAAW
360 370 380 390 400
RLYSTDMSRA YLTATWYYYD SILPSFRELA LLFEHVQRAR NGGLRPLEVR
410 420 430 440 450
RAPVPDGAPS RYPPVATCHR PGSTSFCPGE SSRMGIKDRI RMGSSQRRTG
460 470 480 490 500
PSKQHLAPPT MPTSPSSEQV GEATSPTKVQ KSWSFNDRTR FRASLRLKPR
510 520 530 540 550
TSAEDAPSEE VAEEKSYQCE LTVDDIMPAV KTVIRSIRIL KFLVAKRKFK
560 570 580 590 600
ETLRPYDVKD VIEQYSAGHL DMLGRIKSLQ TRVDQIVGRG PGDRKAREKG
610 620 630 640 650
DKGPSDAEVV DEISMMGRVV KVEKQVQSIE HKLDLLLGFY SRCLRSGTSA
660 670 680 690
SLGAVQVPLF DPDITSDYHS PVDHEDISVS AQTLSISRSV STNMD
Length:695
Mass (Da):77,101
Last modified:September 22, 2009 - 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:i51390F5E00E8C157
GO
Isoform 2 (identifier: P56696-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     377-430: Missing.

Show »
Length:641
Mass (Da):71,196
Checksum:i769D085366D51552
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y6N7H0Y6N7_HUMAN
Potassium voltage-gated channel sub...
KCNQ4
556Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010936274L → H in DFNA2A. 1 PublicationCorresponds to variant dbSNP:rs80358276EnsemblClinVar.1
Natural variantiVAR_008726276W → S in DFNA2A. 1 PublicationCorresponds to variant dbSNP:rs80358277EnsemblClinVar.1
Natural variantiVAR_010937281L → S in DFNA2A. 1 PublicationCorresponds to variant dbSNP:rs80358278EnsemblClinVar.1
Natural variantiVAR_008727285G → C in DFNA2A; loss of potassium selectivity of the pore. 1 PublicationCorresponds to variant dbSNP:rs28937588EnsemblClinVar.1
Natural variantiVAR_001547285G → S in DFNA2A; dominant negative effect; abolishes potassium current. 1 PublicationCorresponds to variant dbSNP:rs28937588EnsemblClinVar.1
Natural variantiVAR_065779287G → R in DFNA2A. 1 PublicationCorresponds to variant dbSNP:rs137853969EnsemblClinVar.1
Natural variantiVAR_008728321G → S in DFNA2A. 1 PublicationCorresponds to variant dbSNP:rs28939710EnsemblClinVar.1
Natural variantiVAR_058971455H → Q1 PublicationCorresponds to variant dbSNP:rs34287852EnsemblClinVar.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_001013377 – 430Missing in isoform 2. 1 PublicationAdd BLAST54

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF105202 mRNA Translation: AAD14680.1
AF105216
, AF105203, AF105204, AF105205, AF105206, AF105207, AF105208, AF105209, AF105210, AF105211, AF105212, AF105213, AF105214, AF105215 Genomic DNA Translation: AAD14681.1
AC119677 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

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CCDSi
CCDS456.1 [P56696-1]

NCBI Reference Sequences

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RefSeqi
NP_004691.2, NM_004700.3 [P56696-1]
NP_751895.1, NM_172163.2 [P56696-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.473058

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000347132; ENSP00000262916; ENSG00000117013 [P56696-1]
ENST00000509682; ENSP00000423756; ENSG00000117013 [P56696-2]
ENST00000642618; ENSP00000494128; ENSG00000117013 [P56696-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
9132

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9132

UCSC genome browser

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UCSCi
uc001cgh.2 human [P56696-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Hereditary hearing loss homepage

Gene page

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF105202 mRNA Translation: AAD14680.1
AF105216
, AF105203, AF105204, AF105205, AF105206, AF105207, AF105208, AF105209, AF105210, AF105211, AF105212, AF105213, AF105214, AF105215 Genomic DNA Translation: AAD14681.1
AC119677 Genomic DNA No translation available.
CCDSiCCDS456.1 [P56696-1]
RefSeqiNP_004691.2, NM_004700.3 [P56696-1]
NP_751895.1, NM_172163.2 [P56696-2]
UniGeneiHs.473058

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2OVCX-ray2.07A610-640[»]
4GOWX-ray2.60A522-593[»]
ProteinModelPortaliP56696
SMRiP56696
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114580, 6 interactors
CORUMiP56696
STRINGi9606.ENSP00000262916

Chemistry databases

BindingDBiP56696
ChEMBLiCHEMBL3576
DrugBankiDB04953 Ezogabine
DB06089 ICA-105665
GuidetoPHARMACOLOGYi563

Protein family/group databases

TCDBi1.A.1.15.4 the voltage-gated ion channel (vic) superfamily

PTM databases

iPTMnetiP56696
PhosphoSitePlusiP56696

Polymorphism and mutation databases

BioMutaiKCNQ4
DMDMi259016259

Proteomic databases

PaxDbiP56696
PeptideAtlasiP56696
PRIDEiP56696
ProteomicsDBi56934
56935 [P56696-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000347132; ENSP00000262916; ENSG00000117013 [P56696-1]
ENST00000509682; ENSP00000423756; ENSG00000117013 [P56696-2]
ENST00000642618; ENSP00000494128; ENSG00000117013 [P56696-1]
GeneIDi9132
KEGGihsa:9132
UCSCiuc001cgh.2 human [P56696-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9132
DisGeNETi9132
EuPathDBiHostDB:ENSG00000117013.14

GeneCards: human genes, protein and diseases

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GeneCardsi
KCNQ4
GeneReviewsiKCNQ4

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0200020
HGNCiHGNC:6298 KCNQ4
HPAiHPA018305
MalaCardsiKCNQ4
MIMi600101 phenotype
603537 gene
neXtProtiNX_P56696
OpenTargetsiENSG00000117013
Orphaneti90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
PharmGKBiPA30076

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1419 Eukaryota
COG1226 LUCA
GeneTreeiENSGT00940000159209
HOGENOMiHOG000220839
HOVERGENiHBG059014
InParanoidiP56696
KOiK04929
OMAiHQEFANE
OrthoDBiEOG091G02ZT
PhylomeDBiP56696
TreeFamiTF315186

Enzyme and pathway databases

ReactomeiR-HSA-1296072 Voltage gated Potassium channels

Miscellaneous databases

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

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ChiTaRSi
KCNQ4 human
EvolutionaryTraceiP56696

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
KCNQ4

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

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GenomeRNAii
9132

Protein Ontology

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PROi
PR:P56696

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000117013 Expressed in 128 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_KCNQ4
ExpressionAtlasiP56696 baseline and differential
GenevisibleiP56696 HS

Family and domain databases

InterProiView protein in InterPro
IPR005821 Ion_trans_dom
IPR003937 K_chnl_volt-dep_KCNQ
IPR013821 K_chnl_volt-dep_KCNQ_C
IPR015573 KCQN4
IPR028325 VG_K_chnl
PANTHERiPTHR11537 PTHR11537, 1 hit
PTHR11537:SF4 PTHR11537:SF4, 1 hit
PfamiView protein in Pfam
PF00520 Ion_trans, 1 hit
PF03520 KCNQ_channel, 1 hit
PRINTSiPR00169 KCHANNEL
PR01459 KCNQCHANNEL

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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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 nameiKCNQ4_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: P56696
Secondary accession number(s): O96025
<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: July 15, 1999
Last sequence update: September 22, 2009
Last modified: December 5, 2018
This is version 173 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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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