LongevityMap Gene

Gene details

HGNC symbol
CALB2 
Aliases
CR; CAL2; CAB29 
Common name
calbindin 2 
Description
This gene encodes an intracellular calcium-binding protein belonging to the troponin C superfamily. Members of this protein family have six EF-hand domains which bind calcium. This protein plays a role in diverse cellular functions, including message targeting and intracellular calcium buffering. It also functions as a modulator of neuronal excitability, and is a diagnostic marker for some human diseases, including Hirschsprung disease and some cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
Cytogenetic Location
16q22.2
UCSC Genome Browser
View 16q22.2 on the UCSC genome browser
OMIM
114051
Ensembl
ENSG00000172137
UniProt/Swiss-Prot
A0A140VK08_HUMAN
Entrez Gene
794
UniGene
106857
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
calb2a
Mus musculus
Calb2
Rattus norvegicus
Calb2

Studies (1)

Significant/Non-significant: 0/1

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
rs12444419
Reference