LongevityMap Gene

Gene details

HGNC symbol
KCNQ4 
Aliases
DFNA2; KV7.4; DFNA2A 
Common 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]
Cytogenetic Location
1p34.2
UCSC Genome Browser
View 1p34.2 on the UCSC genome browser
OMIM
603537
Ensembl
ENSG00000117013
UniProt/Swiss-Prot
B3KQH8_HUMAN
Entrez Gene
9132
UniGene
473058
1000 Genomes
1000 Genomes

Homologs in model organisms

Mus musculus
Kcnq4

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
European
Study Design
Meta-analysis of genome-wide association studies of survival and survival free of major disease or death. In total, there were 25,007 participants over 55 years of age and followed-up for over 10 years for mortality and over 8 years for event-free survival.
Conclusions
No SNP was significantly associated with mortality after correcting for multiple testing, but 14 independent SNPs were associated with time to death at a suggestive threshold
Indentifier
rs2769255
Reference