LongevityMap Gene

Gene details

HGNC symbol: CDK6
Aliases: MCPH12; PLSTIRE
Common name: cyclin dependent kinase 6
Description: The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This kinase is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression and G1/S transition. The activity of this kinase first appears in mid-G1 phase, which is controlled by the regulatory subunits including D-type cyclins and members of INK4 family of CDK inhibitors. This kinase, as well as CDK4, has been shown to phosphorylate, and thus regulate the activity of, tumor suppressor protein Rb. Expression of this gene is up-regulated in some types of cancer. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2009]
Cytogenetic Location: 7q21.2
UCSC Genome Browser: View 7q21.2 on the UCSC genome browser
OMIM: 603368
Ensembl: ENSG00000105810
UniProt/Swiss-Prot: CDK6_HUMAN
Entrez Gene: 1021
UniGene: 119882
1000 Genomes: 1000 Genomes

CellAge

Significant/Non-significant: 1/0

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

rs4729049

Reference