CDKN2D
cyclin dependent kinase inhibitor 2D
Summary
The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to form a stable complex with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. The abundance of the transcript of this gene was found to oscillate in a cell-cycle dependent manner with the lowest expression at mid G1 and a maximal expression during S phase. The negative regulation of the cell cycle involved in this protein was shown to participate in repressing neuronal proliferation, as well as spermatogenesis. Two alternatively spliced variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008]
Known Variants14 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3218221 | 19:10,676,941 | G/A | regulatory region variant | — |
| rs1216315244 | 19:10,677,799 | C/T | — | uncertain significance |
| rs1256898998 | 19:10,677,808 | A/C | — | uncertain significance |
| rs769744236 | 19:10,677,853 | C/G | — | uncertain significance |
| rs764491064 | 19:10,677,916 | C/T | — | uncertain significance |
| rs141595298 | 19:10,677,931 | C/T | — | uncertain significance |
| rs778521084 | 19:10,678,066 | C/T | — | uncertain significance |
| rs1465702 | 19:10,678,632 | T/A | — | — |
| rs1968445 | 19:10,679,240 | C/G | synonymous variant | — |
| rs777976107 | 19:10,679,263 | C/G | — | uncertain significance |
| rs1242536588 | 19:10,679,272 | C/T | — | uncertain significance |
| rs765253798 | 19:10,679,320 | C/T | — | uncertain significance |
| rs58573889 | 19:10,679,733 | A/C | — | — |
| rs563423282 | 19:10,679,925 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.