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KCNQ4 potassium voltage-gated channel subfamily Q member 4 [ Homo sapiens (human) ]

Gene ID: 9132, updated on 3-Apr-2024

Summary

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Official Symbol
KCNQ4provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily Q member 4provided by HGNC
Primary source
HGNC:HGNC:6298
See related
Ensembl:ENSG00000117013 MIM:603537; AllianceGenome:HGNC:6298
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DFNA2; KV7.4; DFNA2A
Summary
The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene. Defects in this gene are a cause of nonsyndromic sensorineural deafness type 2 (DFNA2), an autosomal dominant form of progressive hearing loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in endometrium (RPKM 1.8), prostate (RPKM 1.3) and 24 other tissues See more
Orthologs
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Genomic context

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See KCNQ4 in Genome Data Viewer
Location:
1p34.2
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (40783787..40840452)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (40653010..40709692)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (41249459..41306124)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene nuclear transcription factor Y subunit gamma Neighboring gene ATAC-STARR-seq lymphoblastoid active region 853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 854 Neighboring gene microRNA 30e Neighboring gene microRNA 30c-1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:41253587-41254086 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:41267963-41268147 Neighboring gene RNA, 7SL, cytoplasmic 326, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:41279047-41279546 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 735 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:41286429-41286930 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:41290219-41291122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:41300271-41300796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:41305349-41305957 Neighboring gene uncharacterized LOC105378676 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 736 Neighboring gene Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. [The genotype-phenotype correlation analysis and genetic counseling of hearing loss patients with novel KCNQ4 mutations]. Zhang X, et al. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, 2023 Jan. PMID 36597364, Free PMC Article
  2. A KCNQ4 c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population. Yen TT, et al. Genes (Basel), 2021 Oct 27. PMID 34828318, Free PMC Article
  3. Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss. Kojima T, et al. Dis Model Mech, 2021 Nov 1. PMID 34622280, Free PMC Article
  4. Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss. Lee SY, et al. Exp Mol Med, 2021 Jul. PMID 34316018, Free PMC Article
  5. A novel KCNQ4 gene variant (c.857A>G; p.Tyr286Cys) in an extended family with non‑syndromic deafness 2A. Li Q, et al. Mol Med Rep, 2021 Jun. PMID 33846771, Free PMC Article

See all (79) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Comprehensive pan-cancer analysis of potassium voltage-gated channel Q4 (KCNQ4) gene across multiple human malignant tumors.
    Title: Comprehensive pan‑cancer analysis of potassium voltage-gated channel Q4 (KCNQ4) gene across multiple human malignant tumors.
  2. Overlooked KCNQ4 variants augment the risk of hearing loss.
    Title: Overlooked KCNQ4 variants augment the risk of hearing loss.
  3. [The genotype-phenotype correlation analysis and genetic counseling of hearing loss patients with novel KCNQ4 mutations].
    Title: [The genotype-phenotype correlation analysis and genetic counseling of hearing loss patients with novel KCNQ4 mutations].
  4. A humanized murine model, demonstrating dominant progressive hearing loss caused by a novel KCNQ4 mutation (p.G228D) from a large Chinese family.
    Title: A humanized murine model, demonstrating dominant progressive hearing loss caused by a novel KCNQ4 mutation (p.G228D) from a large Chinese family.
  5. Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss.
    Title: Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss.
  6. Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss.
    Title: Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss.
  7. A KCNQ4 c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population.
    Title: A KCNQ4 c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population.
  8. A novel KCNQ4 gene variant (c.857A>G; p.Tyr286Cys) in an extended family with nonsyndromic deafness 2A.
    Title: A novel KCNQ4 gene variant (c.857A>G; p.Tyr286Cys) in an extended family with non‑syndromic deafness 2A.
  9. Molecular basis and restoration of function deficiencies of Kv7.4 variants associated with inherited hearing loss.
    Title: Molecular basis and restoration of function deficiencies of Kv7.4 variants associated with inherited hearing loss.
  10. Structural Basis for the Modulation of Human KCNQ4 by Small-Molecule Drugs.
    Title: Structural Basis for the Modulation of Human KCNQ4 by Small-Molecule Drugs.
Submit: New GeneRIF Correction See all GeneRIFs (66)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables potassium channel activity TAS
Traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables voltage-gated potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in inner ear morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in potassium ion transport TAS
Traceable Author Statement
more info
 PubMed 
involved_in sensory perception of sound IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in basal plasma membrane IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
part_of voltage-gated potassium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
potassium voltage-gated channel subfamily KQT member 4
Names
potassium channel KQT-like 4
potassium channel subunit alpha KvLQT4
potassium channel, voltage gated KQT-like subfamily Q, member 4
potassium voltage-gated channel, KQT-like subfamily, member 4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008139.3 RefSeqGene

    Range
    5001..61666
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1378

mRNA and Protein(s)

  1. NM_004700.4 → NP_004691.2  potassium voltage-gated channel subfamily KQT member 4 isoform a

    See identical proteins and their annotated locations for NP_004691.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer and predominant isoform (a).
    Source sequence(s)
    AC119677, AF105202, AK074957, CA411644, DA782056
    Consensus CDS
    CCDS456.1
    UniProtKB/Swiss-Prot
    O96025, P56696
    Related
    ENSP00000262916.6, ENST00000347132.10
    Conserved Domains (4) summary
    pfam00520
    Location:126 → 330
    Ion_trans; Ion transport protein
    pfam03520
    Location:474 → 653
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam06664
    Location:92 → 190
    MIG-14_Wnt-bd; Wnt-binding factor required for Wnt secretion
    pfam07885
    Location:246 → 320
    Ion_trans_2; Ion channel

  2. NM_172163.3 → NP_751895.1  potassium voltage-gated channel subfamily KQT member 4 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a. There are no publicly available transcripts supporting this variant; it is represented based on data in PMID:10025409.
    Source sequence(s)
    AC119677, AF105202, AK074957, CA411644, DA782056
    UniProtKB/TrEMBL
    H0Y6N7
    Related
    ENSP00000423756.2, ENST00000509682.6
    Conserved Domains (4) summary
    pfam00520
    Location:126 → 330
    Ion_trans; Ion transport protein
    pfam03520
    Location:420 → 599
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam06664
    Location:105 → 190
    MIG-14_Wnt-bd; Wnt-binding factor required for Wnt secretion
    pfam07885
    Location:246 → 320
    Ion_trans_2; Ion channel

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    40783787..40840452
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047434057.1 → XP_047290013.1  potassium voltage-gated channel subfamily KQT member 4 isoform X1

  2. XM_017002792.2 → XP_016858281.1  potassium voltage-gated channel subfamily KQT member 4 isoform X2

    UniProtKB/TrEMBL
    B3KQH8
    Related
    ENST00000506017.1

RNA

  1. XR_007064876.1 RNA Sequence

  2. XR_007064877.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    40653010..40709692
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054339571.1 → XP_054195546.1  potassium voltage-gated channel subfamily KQT member 4 isoform X1

  2. XM_054339572.1 → XP_054195547.1  potassium voltage-gated channel subfamily KQT member 4 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P56696.2 GenPept UniProtKB/Swiss-Prot:P56696

Gene LinkOut

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