LongevityMap Gene

Gene details

HGNC symbol
CACNA1C 
Aliases
TS; LQT8; CACH2; CACN2; CaV1.2; CCHL1A1; CACNL1A1 
Common name
calcium voltage-gated channel subunit alpha1 C 
Description
This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]
Cytogenetic Location
12p13.33
UCSC Genome Browser
View 12p13.33 on the UCSC genome browser
OMIM
114205
Ensembl
ENSG00000151067
UniProt/Swiss-Prot
A0A0A0MR67_HUMAN
Entrez Gene
775
UniGene
118262
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
cacna1c
Mus musculus
Cacna1c
Rattus norvegicus
Cacna1c

Studies (1)

Significant/Non-significant: 1/0

Longevity Association
Significant
Population
American (Caucasian)
Study Design
Genome-wide association study using 1,471 genotyped participants from the Framingham Heart Study, of which 1,173 individuals had known lifespans, plus 517 individuals from the Offspring cohort for validating connections between longevity and genetic variants
Conclusions
A total of 27 SNPs, including in CDH4, SVEP1, CACNA1C, CARS, STK24, C7orf50, PARVG, NCAM2, PPP2R2C, NLRC5, BTBD9, RAC2, TGFA, KIAA0649, ABCC4, CLSTN2, FAM19A5 and RUNX3, were identified at the intersection of various statistical procedures
Indentifier
rs2370413
Reference