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CCND1
SNP Table
| variant | genotype | frequency | risk allele |
|---|---|---|---|
| rs9344 | |||
| rs12808959 | |||
| rs28599796 | |||
| rs7481709 | |||
| rs2220247 | |||
| rs752157015 | |||
| rs756792055 | |||
| rs10896455 | |||
| rs10896456 | |||
| rs1385875 | |||
| rs647451 | |||
| rs1944129 | |||
| rs11263498 | |||
| rs11263499 | |||
| rs11263501 | |||
| rs11602223 | |||
| rs1960217 | |||
| rs3903268 | |||
| rs602124 | |||
| rs638640 |
Find on This Page
Summary
The CCND1 gene encodes a protein called cyclin D1 [R].
Cyclin D1 plays a role in mitosis, the process of cell division. Because of its involvement in the cell cycle, cyclin D1 is often dysregulated in cancer. Tumor cells generally have the CCND1 gene overexpressed [R, R].
Variants in CCND1 have been linked to [R, R, R]:
- Cancer
- Type 2 diabetes
- Bone mineral density
CCND1 has also been linked to muscularity in beef cattle [R].
Protein names
Found in These Blog Articles
GHR Function
Regulatory component of the cyclin D1-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. Also substrate for SMAD3, phosphorylating SMAD3 in a cell-cycle-dependent manner and repressing its transcriptional activity. Component of the ternary complex, cyclin D1/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex. Exhibits transcriptional corepressor activity with INSM1 on the NEUROD1 and INS promoters in a cell cycle-independent manner.
More Information
The CCND1 gene codes for cyclin D1, a protein that promotes cell survival, growth, and proliferation by stimulating cell division [R].
While the process of cell division is tightly controlled under normal conditions, cancer cells are able to bypass this regulation in order to divide uncontrollably [R].
Indeed, multiple studies have shown that levels of cyclin D1 are significantly elevated in melanoma and other forms of cancer [R].
Unsurprisingly, a variant of CCND1 has been associated with melanoma. This variant may increase the production of cyclin D1, resulting in excessive cell division and melanoma progression [R, R, R].
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