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

Gene ID: 9132, updated on 13-Jan-2019

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
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

Genomic context

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See KCNQ4 in Genome Data Viewer
Location:
1p34.2
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (40784012..40840457)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (41249684..41306124)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene nuclear transcription factor Y subunit gamma Neighboring gene microRNA 30e Neighboring gene microRNA 30c-1 Neighboring gene RNA, 7SL, cytoplasmic 326, pseudogene Neighboring gene GATA motif-containing MPRA enhancers 242 and 247 Neighboring gene uncharacterized LOC105378676 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. Genetic variation in KCNQ4 gene is associated with susceptibility to noise-induced hearing loss in a Chinese population. Guo H, et al. Environ Toxicol Pharmacol, 2018 Oct. PMID 30153627
  2. Absence of KCNQ4 mutation in Bengali families with ADNSHL originated from West Bengal, India. Adhikary B, et al. Int J Pediatr Otorhinolaryngol, 2017 Sep. PMID 28802383
  3. A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2. Huang B, et al. BMC Med Genet, 2017 Mar 24. PMID 28340560, Free PMC Article
  4. Synergistic interplay of Gβγ and phosphatidylinositol 4,5-bisphosphate dictates Kv7.4 channel activity. Povstyan OV, et al. Pflugers Arch, 2017 Feb. PMID 27981364, Free PMC Article
  5. KV7 channels in the human detrusor: channel modulator effects and gene and protein expression. Bientinesi R, et al. Naunyn Schmiedebergs Arch Pharmacol, 2017 Feb. PMID 27761601

See all (61) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  1. Results show that rs4660468 T allele of KCNQ4 involves with a higher risk of noise-induced hearing loss (NIHL) and it could be one biomarker of susceptibility for Chinese noise exposed workers. Furthermore, genetic variations of KCNQ4 and noise exposure jointly contribute to the NIHL risks by gene-environment interactions.
    Title: Genetic variation in KCNQ4 gene is associated with susceptibility to noise-induced hearing loss in a Chinese population.
  2. KCNQ4 gene polymorphisms associated with susceptibility to noise-induced hearing loss.
    Title: [The genetic aspects of occupational hearing impairment].
  3. mutations in KCNQ4 gene are unlikely to be a major causative factor of ADNSHL in our studied patients from West Bengal, India, pointing to other genes might be responsible for ADNSHL in our studied patients
    Title: Absence of KCNQ4 mutation in Bengali families with ADNSHL originated from West Bengal, India.
  4. The fundamental processes that dictate Kv7.4 activity.
    Title: Synergistic interplay of Gβγ and phosphatidylinositol 4,5-bisphosphate dictates Kv7.4 channel activity.
  5. A novel KCNQ4 mutation, c.887 G > A (p.G296D), was identified in all five affected members in a Chinese family with autosomal dominant non-syndromic deafness 2. This mutation leads to a glycine-to-aspartic acid substitution at position 296 in the pore region of the KCNQ4 channel.
    Title: A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2.
  6. Tannic acid activates Kv7.4 and Kv7.3/7.5 K(+) channels resulting in vasodilation.
    Title: Tannic acid activates the Kv7.4 and Kv7.3/7.5 K(+) channels expressed in HEK293 cells and reduces tension in the rat mesenteric arteries.
  7. Gene and protein expression analyses show the predominance of KV7.4 channels over the other KV7 channel subtypes in human detrusor.
    Title: K<sub>V</sub>7 channels in the human detrusor: channel modulator effects and gene and protein expression.
  8. Kv7.4 channels are present and functional in cardiac mitochondria; their activation exerts a significant cardioprotective role
    Title: Expression and function of Kv7.4 channels in rat cardiac mitochondria: possible targets for cardioprotection.
  9. analysis of mechanistic insights into the critical roles of Ca(2+)/CaM regulation of the Kv7.4 channel under physiological and pathological conditions
    Title: Mechanisms of Calmodulin Regulation of Different Isoforms of Kv7.4 K+ Channels.
  10. Interaction between G-protein betagamma subunits and Kv7.4 is crucial for channel responses to membrane voltage.
    Title: G-protein βγ subunits are positive regulators of Kv7.4 and native vascular Kv7 channel activity.
Submit: New GeneRIF Correction See all GeneRIFs (47)

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 BioSystems

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  • Cholinergic synapse, organism-specific biosystem (from KEGG)
    Cholinergic synapse, organism-specific biosystemAcetylcholine (ACh) is a neurotransmitter widely distributed in the central (and also peripheral, autonomic and enteric) nervous system (CNS). In the CNS, ACh facilitates many functions, such as lear...
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Potassium Channels, organism-specific biosystem (from REACTOME)
    Potassium Channels, organism-specific biosystemPotassium channels are tetrameric ion channels that are widely distributed and are found in all cell types. Potassium channels control resting membrane potential in neurons, contribute to regulation ...
  • Voltage gated Potassium channels, organism-specific biosystem (from REACTOME)
    Voltage gated Potassium channels, organism-specific biosystemVoltage-gated K+ channels (Kv) determine the excitability of heart, brain and skeletal muscle cells. Kv form octameric channel with alpha subunits that forms the pore of the channel and associated be...

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

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_008139.2 RefSeqGene

    Range
    5001..61441
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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
    P56696
    UniProtKB/TrEMBL
    B3KQH8
    Related
    ENSP00000262916.6, ENST00000347132.9
    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_172163.2 → 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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    40784012..40840457
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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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