The ccnd2 gene encodes a g1/s-specific cyclin-d2 protein that functions as a regulatory component of the cyclin-dependent kinase complex, controlling the progression through the g1 phase and the g1/s t...[+]

The ccnd2 gene encodes a g1/s-specific cyclin-d2 protein that functions as a regulatory component of the cyclin-dependent kinase complex, controlling the progression through the g1 phase and the g1/s transition in the cell cycle. Its expression is associated with proliferating cells in the developing neural tube, retina, and craniofacial mesenchyme. The protein localizes to the nucleus where it phosphorylates target proteins like the retinoblastoma protein to promote DNA synthesis and cell division. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD