Gene: CDK4

Alternate names for this Gene: CMM3|PSK-J3

Gene Summary: The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is highly similar to the gene products of S. cerevisiae cdc28 and S. pombe cdc2. It is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression. The activity of this kinase is restricted to the G1-S phase, which is controlled by the regulatory subunits D-type cyclins and CDK inhibitor p16(INK4a). This kinase was shown to be responsible for the phosphorylation of retinoblastoma gene product (Rb). Mutations in this gene as well as in its related proteins including D-type cyclins, p16(INK4a) and Rb were all found to be associated with tumorigenesis of a variety of cancers. Multiple polyadenylation sites of this gene have been reported.

Gene is located in Chromosome: 12

Location in Chromosome : 12q14.1

Description of this Gene: cyclin dependent kinase 4

Type of Gene: protein-coding

rs104894340 in CDK4 gene and Adenocarcinoma of lung (disorder) PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894340 in CDK4 gene and Cutaneous Melanoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894340 in CDK4 gene and MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 PMID 9311594 1997 Complete scanning of the CDK4 gene by denaturing gradient gel electrophoresis: a novel missense mutation but low overall frequency of mutations in sporadic metastatic malignant melanoma.

PMID 9425228 1998 Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group.

PMID 7652577 1995 A p16INK4a-insensitive CDK4 mutant targeted by cytolytic T lymphocytes in a human melanoma.

PMID 8528263 1996 Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma.

PMID 22804906 2012 MC1R variation and melanoma risk in relation to host/clinical and environmental factors in CDKN2A positive and negative melanoma patients.

PMID 23384855 2013 Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants.

PMID 9228064 1997 Identification of CDK4 sequences involved in cyclin D1 and p16 binding.

rs104894340 in CDK4 gene and Multiple Myeloma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894340 in CDK4 gene and melanoma PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.