CDK2
cyclin dependent kinase 2
Summary
This gene encodes a member of a family of serine/threonine protein kinases that participate in cell cycle regulation. The encoded protein is the catalytic subunit of the cyclin-dependent protein kinase complex, which regulates progression through the cell cycle. Activity of this protein is especially critical during the G1 to S phase transition. This protein associates with and regulated by other subunits of the complex including cyclin A or E, CDK inhibitor p21Cip1 (CDKN1A), and p27Kip1 (CDKN1B). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Known Variants8 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2069391 | 12:56,359,878 | C/T | regulatory region variant | — |
| rs1336824730 | 12:56,360,820 | A/C | — | uncertain significance |
| rs2540538696 | 12:56,361,694 | A/C | — | uncertain significance |
| rs369617221 | 12:56,361,874 | T/G | — | uncertain significance |
| rs2069408 | 12:56,364,321 | A/G | upstream gene variant | — |
| rs147559857 | 12:56,365,337 | T/A | — | likely benign |
| rs2069414 | 12:56,365,699 | C/T | — | — |
| rs1045435 | 12:56,366,160 | G/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.