LongevityMap Gene

Gene details

HGNC symbol
ASIC2 
Aliases
ACCN; BNC1; MDEG; ACCN1; BNaC1; ASIC2a; hBNaC1 
Common name
acid sensing ion channel subunit 2 
Description
This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012]
Cytogenetic Location
17q11.2-q12
UCSC Genome Browser
View 17q11.2-q12 on the UCSC genome browser
OMIM
601784
Ensembl
ENSG00000108684
UniProt/Swiss-Prot
ASIC2_HUMAN
Entrez Gene
40
UniGene
368417
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
asic2
Mus musculus
Asic2
Rattus norvegicus
Asic2

Studies (2)

Significant/Non-significant: 1/1

Study 1

Longevity Association
Non-significant
Population
Caucasians
Study Design
Meta-analysis of GWAS in Caucasians from four prospective cohort studies: the Age, Gene/Environment Susceptibility-Reykjavik Study, the Cardiovascular Health Study, the Framingham Heart Study, and the Rotterdam Study participating in the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. Longevity was defined as survival to age 90 years or older (n = 1,836); the comparison group comprised cohort members who died between the ages of 55 and 80 years (n = 1,955).
Conclusions
There were 273 single-nucleotide polymorphism (SNP) associations with p < .0001, but none reached significance after correcting for multiple testing
Indentifier
rs12952455
Reference

    Study 2

    Longevity Association
    Significant
    Population
    American (Caucasian)
    Study Design
    Genome-wide association study in 801 centenarians and 914 healthy controls
    Conclusions
    281 SNPs were found to discriminate between cases and controls
    Indentifier
    rs7207422
    Reference