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
- Caenorhabditis elegans
- kqt-1
- Danio rerio
- kcnq4
- Drosophila melanogaster
- KCNQ
- Mus musculus
- Kcnq4
- Rattus norvegicus
- 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