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

Significant/Non-significant: 1/1

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

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