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

Summary

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: mouse all
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Genomic context

Location:: 1p34.2

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (40783787..40840452)
110	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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[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].
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.
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.
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.
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.
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.
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.
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.
A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.
Title: A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.
In 3 families with hearing impairment, whole exome sequencing revealed 3 novel variants in KCNQ4, LHFPL5 and COCH genes. The KCNQ4 gene (DFNA2A) encodes a potassium channel (KV7.4) and the heterozygous variant identified (c.1647C>G, p.F549L) resulted in the substitution of Phe549 residing in the KV7.4 cytoplasmic region.
Title: Novel Mutations in KCNQ4, LHFPL5 and COCH Genes in Iranian Families with Hearing Impairment.

Submit: New GeneRIF Correction See all GeneRIFs (64)

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

Associated conditions

Description	Tests
Autosomal dominant nonsyndromic hearing loss 2A MedGen: C2677637 OMIM: 600101 GeneReviews: DFNA2 Nonsyndromic Hearing Loss, Hereditary Hearing Loss and Deafness Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-146764 (e-PCR)
- UniSTS:175417

SHGC-149399 (e-PCR)
- UniSTS:176981

SHGC-146823 (e-PCR)
- UniSTS:175454

SHGC-74653 (e-PCR)
- UniSTS:49005

Homology

Homologs of the KCNQ4 gene: The KCNQ4 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, and frog.
Orthologs from Annotation Pipeline: 309 organisms have orthologs with human gene KCNQ4
Orthologs

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

Process	Evidence Code	Pubs
involved_in inner ear morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in potassium ion transport	TAS Traceable Author Statement more info	PubMed
involved_in regulation of monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
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

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

NG_008139.3 RefSeqGene

Range

5001..61666

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1378

mRNA and Protein(s)

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

UniProtKB/TrEMBL

B3KQH8

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
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/Swiss-Prot

P56696

UniProtKB/TrEMBL

B3KQH8

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: Homo sapiens Annotation Release 110 details...

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

40783787..40840452

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047434057.1 → XP_047290013.1 potassium voltage-gated channel subfamily KQT member 4 isoform X1
XM_017002792.2 → XP_016858281.1 potassium voltage-gated channel subfamily KQT member 4 isoform X2

Related

ENST00000506017.1