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
- Danio rerio
- calb2b
- Drosophila melanogaster
- Cbp53E
- 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