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UniProtKB - P56696 (KCNQ4_HUMAN)

Entry version 188 (10 Feb 2021)
Sequence version 2 (22 Sep 2009)
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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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P56696

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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

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

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000117013.14

<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%5Flocation%5Fsection">'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%5Flocation%5Fsection">'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%5Flocation%5Fsection">'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 variants 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.
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_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%5Fand%5Fbiotech%5Fsection">'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 variant, 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

More...OpenTargetsi		ENSG00000117013

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

More...Orphaneti		90635, Autosomal dominant non-syndromic sensorineural deafness type DFNA

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30076

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P56696, Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL3576

Drug and drug target database

More...DrugBanki		DB00228, Enflurane
DB04953, Ezogabine
DB06089, ICA-105665
DB01110, Miconazole
DB01069, Promethazine

DrugCentral

More...DrugCentrali		P56696

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		563

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		KCNQ4

Domain mapping of disease mutations (DMDM)

More...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 or proteolytic cleavage.<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

More...PaxDbi		P56696

PeptideAtlas

More...PeptideAtlasi		P56696

PRoteomics IDEntifications database

More...PRIDEi		P56696

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		56934 [P56696-1]
56935 [P56696-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...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 pigmented layer of retina and 146 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P56696, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P56696, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000117013, Tissue enhanced (pancreas, retina)

<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%5Fsection">'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%5Fsection">'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

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		114580, 12 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P56696

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000262916

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P56696

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P56696, protein

<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

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

More...SMRi		P56696

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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

Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.4/KCNQ4 sub-subfamily. [View classification]Curated

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1419, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000159209

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P56696

Identification of Orthologs from Complete Genome Data

More...OMAi		RKFKEML

Database for complete collections of gene phylogenies

More...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		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%5Flength">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 (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 <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
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: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>

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.<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

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF105202 mRNA Translation: AAD14680.1
AF105216 AF105215 Genomic DNA Translation: AAD14681.1
AC119677 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS456.1 [P56696-1]

NCBI Reference Sequences

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

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000347132; ENSP00000262916; ENSG00000117013 [P56696-1]
ENST00000509682; ENSP00000423756; ENSG00000117013 [P56696-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		9132

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:9132

UCSC genome browser

More...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%5Freferences%5Fsection">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 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]

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
2OVCX-ray2.07A610-640[»]
4GOWX-ray2.60A522-593[»]
6N5WX-ray2.15A336-362[»]
B524-549[»]
SMRiP56696
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi114580, 12 interactors
CORUMiP56696
STRINGi9606.ENSP00000262916

Chemistry databases

BindingDBiP56696
ChEMBLiCHEMBL3576
DrugBankiDB00228, Enflurane
DB04953, Ezogabine
DB06089, ICA-105665
DB01110, Miconazole
DB01069, Promethazine
DrugCentraliP56696
GuidetoPHARMACOLOGYi563

Protein family/group databases

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

PTM databases

iPTMnetiP56696
PhosphoSitePlusiP56696

Genetic variation databases

BioMutaiKCNQ4
DMDMi259016259

Proteomic databases

PaxDbiP56696
PeptideAtlasiP56696
PRIDEiP56696
ProteomicsDBi56934 [P56696-1]
56935 [P56696-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		18036, 344 antibodies

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		9132
DisGeNETi9132

GeneCards: human genes, protein and diseases

More...GeneCardsi		KCNQ4
GeneReviewsiKCNQ4
HGNCiHGNC:6298, KCNQ4
HPAiENSG00000117013, Tissue enhanced (pancreas, retina)
MalaCardsiKCNQ4
MIMi600101, phenotype
603537, gene
neXtProtiNX_P56696
OpenTargetsiENSG00000117013
Orphaneti90635, Autosomal dominant non-syndromic sensorineural deafness type DFNA
PharmGKBiPA30076
VEuPathDBiHostDB:ENSG00000117013.14

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1419, Eukaryota
GeneTreeiENSGT00940000159209
InParanoidiP56696
OMAiRKFKEML
PhylomeDBiP56696
TreeFamiTF315186

Enzyme and pathway databases

PathwayCommonsiP56696
ReactomeiR-HSA-1296072, Voltage gated Potassium channels

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		9132, 21 hits in 874 CRISPR screens

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

More...ChiTaRSi		KCNQ4, human
EvolutionaryTraceiP56696

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		KCNQ4

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

More...GenomeRNAii		9132
PharosiP56696, Tclin

Protein Ontology

More...PROi		PR:P56696
RNActiP56696, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000117013, Expressed in pigmented layer of retina and 146 other tissues
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
PRINTSiPR01459, KCNQCHANNEL

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry 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%5Fand%5Fisoforms">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: February 10, 2021
This is version 188 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, Reference proteome

Documents

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