LongevityMap Gene

Gene details

HGNC symbol
CDKN2C 
Aliases
p18; INK4C; p18-INK4C 
Common name
cyclin dependent kinase inhibitor 2C 
Description
The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to interact with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. Ectopic expression of this gene was shown to suppress the growth of human cells in a manner that appears to correlate with the presence of a wild-type RB1 function. Studies in the knockout mice suggested the roles of this gene in regulating spermatogenesis, as well as in suppressing tumorigenesis. Two alternatively spliced transcript variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008]
Cytogenetic Location
1p32.3
UCSC Genome Browser
View 1p32.3 on the UCSC genome browser
OMIM
603369
Ensembl
ENSG00000123080
UniProt/Swiss-Prot
CDN2C_HUMAN
Entrez Gene
1031
UniGene
525324
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
cdkn2c
Mus musculus
Cdkn2c
Rattus norvegicus
Cdkn2c

Studies (1)

Significant/Non-significant: 1/0

Longevity Association
Significant
Population
Dutch
Study Design
1,018 SNPs within a 10-kb window around 40 mTOR signalling genes were studied for differences in variation between 417 unrelated nonagenarian participants and 476 younger controls
Conclusions
As a whole, there was a significant association of genetic variation in the mTOR pathway and familial longevity, though no individual gene was significant after correcting for multiple hypothesis testing
Indentifier
CDKN2C
Reference