Gene: KCNQ4 (potassium voltage-gated channel subfamily Q member 4) Homo sapiens
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Symbol: KCNQ4
Name: potassium voltage-gated channel subfamily Q member 4
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DFNA2; DFNA2A; KQT-like 4; KV7.4; OTTHUMP00000009219; OTTHUMP00000220901; OTTHUMP00000220902; potassium channel KQT-like 4; potassium channel subunit alpha KvLQT4; potassium channel, voltage gated KQT-like subfamily Q, member 4; potassium voltage-gated channel subfamily KQT member 4; potassium voltage-gated channel, KQT-like subfamily, member 4; potassium voltage-gated channel, subfamily q, member 4; voltage-gated potassium channel subunit Kv7.4
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38140,784,012 - 40,840,457 (+)NCBIGRCh38hg38GRCh38
GRCh37141,249,684 - 41,306,124 (+)NCBIGRCh37hg19GRCh37
Build 36141,022,271 - 41,076,947 (+)NCBINCBI36hg18NCBI36
Build 34140,918,776 - 40,973,453NCBI
Celera139,531,891 - 39,588,392 (+)NCBI
Cytogenetic Map1p34.2NCBImapview
HuRef139,389,941 - 39,423,633 (+)NCBI
CHM1_1141,365,539 - 41,422,020 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


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Genomics

Comparative Map Data
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Sequence

Nucleotide Sequences
Protein Sequences
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Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on KCNQ4
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
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Vista + UCSC

RGD Object Information
RGD ID: 736263
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2017-03-14
Status: ACTIVE