CCND2 : cyclin D2
Description
The CCND2 (cyclin D2) is a protein-coding gene located on chromosome 12.
The CCND2 gene provides instructions for making a protein called cyclin D2. Cyclins are a family of proteins that control how cells proceed through the multi-step cycle of cell division. Cyclin D2 helps to regulate a step in the cycle called the G1-S transition, in which the cell moves from the G1 phase, when cell growth occurs, to the S phase, when the cell's DNA is copied (replicated) in preparation for cell division. Cyclin D2's role in the cell division cycle makes it a key controller of the rate of cell growth and division (proliferation) in the body. The cyclin D2 protein is regulated by a chemical signaling pathway called the PI3K-AKT-mTOR pathway. This signaling influences many critical cell functions, including the creation (synthesis) of new proteins, cell proliferation, and the survival of cells. The PI3K-AKT-mTOR pathway is essential for the normal development of many parts of the body, including the brain.
Cyclin D2 is a key regulator of cell cycle progression during the G1/S transition. It forms a complex with CDK4, a protein kinase, and together they phosphorylate and inhibit members of the retinoblastoma (RB) protein family, including RB1. This phosphorylation allows the dissociation of the transcription factor E2F from the RB/E2F complex, enabling the transcription of E2F target genes that drive the cell through the G1 phase. In early G1, cyclin D2-CDK4 complex hypophosphorylates RB1. Cyclin D-CDK4 complexes are crucial integrators of various mitogenic and antimitogenic signals.
CCND2 is also known as KIAK0002, MPPH3.
Associated Diseases
- Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
- Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
