CDK2AP1
cyclin dependent kinase 2 associated protein 1
Summary
The protein encoded by this gene is a cyclin-dependent kinase 2 (CDK2) -associated protein which is thought to negatively regulate CDK2 activity by sequestering monomeric CDK2, and targeting CDK2 for proteolysis. This protein was found to also interact with DNA polymerase alpha/primase and mediate the phosphorylation of the large p180 subunit, which suggests a regulatory role in DNA replication during the S-phase of the cell cycle. This protein also forms a core subunit of the nucleosome remodeling and histone deacetylation (NURD) complex that epigenetically regulates embryonic stem cell differentiation. This gene thus plays a role in both cell-cycle and epigenetic regulation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]
Known Variants9 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs141641921 | 12:123,746,300 | G/A | — | uncertain significance |
| rs4759417 | 12:123,746,510 | C/T | downstream gene variant | — |
| rs10773002 | 12:123,746,961 | A/T | downstream gene variant | — |
| rs7312955 | 12:123,747,783 | A/T | — | — |
| rs76783415 | 12:123,749,834 | G/A | — | benign |
| rs143369281 | 12:123,749,852 | C/T | — | benign |
| rs1271472566 | 12:123,751,751 | G/A | — | uncertain significance |
| rs2547605537 | 12:123,751,758 | C/T | — | uncertain significance |
| rs10846491 | 12:123,753,492 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.