CCND2是致癌基因,编码蛋白(cyclin D2)为细胞周期蛋白D2是细胞周期的调节因子,其通过激活细胞周期蛋白依赖性激酶4(CDK4)和CDK6将细胞外生长信号传导到细胞周期。细胞周期蛋白D2启动子经常甲基化,在胰腺癌,乳腺癌和前列腺癌中观察到蛋白质表达的丧失,表明它在某些情况下可能起到肿瘤抑制剂的作用。新发细胞周期蛋白D2突变可导致蛋白质稳定,并可导致巨脑畸形-多发性-多发性-脑积水综合征,其特征在于脑发育异常。CCND2在各种癌症类型中常被扩增。
CCND2 (cyclin D2) is a protein that couples extracellular growth signaling to cell cycle entry through the activation of cyclin-dependent kinase 4 (CDK4) and CDK6. Upon forming a complex with cyclin D2, CDK4 and CDK6 phosphorylate and inactivate retinoblastoma (RB), thus leading to the induction of a gene expression program regulated by the E2F family of transcription factors that is important in the transition from G1 to S phase in the cell cycle. Cyclin D2 is not essential for entry into the cell cycle and is rarely amplified or overexpressed in human cancers. However, the cyclin D2 promoter is frequently methylated with loss of protein expression observed in pancreatic, breast, and prostate cancer, suggesting that it may play a role as a tumor suppressor in certain contexts. De novo cyclin D2 mutations can cause stabilization of the protein and may result in megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, which is characterized by abnormalities in brain development.
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