CDK6 cyclin dependent kinase 6
Gene ID: 1021, updated on 16-Apr-2024Gene type: protein coding
Also known as: MCPH12; PLSTIRE
- See all available tests in GTR for this gene
- Go to complete Gene record for CDK6
- Go to Variation Viewer for CDK6 variants
Summary
The protein encoded by this gene is a member of the CMGC family of serine/threonine protein kinases. 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. Altered expression of this gene has been observed in multiple human cancers. A mutation in this gene resulting in reduced cell proliferation, and impaired cell motility and polarity, and has been identified in patients with primary microcephaly. [provided by RefSeq, Aug 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common variants at CD40 and other loci confer risk of rheumatoid arthritis. GeneReviews: Not available | |
| Genetics of rheumatoid arthritis contributes to biology and drug discovery. GeneReviews: Not available | |
| Genome-wide association analysis identifies 20 loci that influence adult height. GeneReviews: Not available | |
| Genome-wide association study of hematological and biochemical traits in a Japanese population. GeneReviews: Not available | |
| Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT). GeneReviews: Not available | |
| Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. GeneReviews: Not available | |
| Hundreds of variants clustered in genomic loci and biological pathways affect human height. GeneReviews: Not available | |
| Identification of nine novel loci associated with white blood cell subtypes in a Japanese population. GeneReviews: Not available | |
| Identification of ten loci associated with height highlights new biological pathways in human growth. GeneReviews: Not available | |
| Many sequence variants affecting diversity of adult human height. GeneReviews: Not available | |
| Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size. GeneReviews: Not available | |
| Microcephaly 12, primary, autosomal recessive | See labs |
Genomic context
- Location:
- 7q21.2
- Sequence:
- Chromosome: 7; NC_000007.14 (92604921..92836573, complement)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CDK6 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CDK6 database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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