CCND2 (G1/S-specific cyclin-D2) variants and mutations

CCND2 (also known as G1/S-specific cyclin-D2) is a human protein-coding gene encoding a g1/S-specific cyclin-D2 protein. It promotes G1-to-S cell-cycle progression through activation of CDK4 and CDK6 and is important in proliferating neural and endocrine tissues. Activating germline variants can cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, while overexpression occurs in several cancers. This analysis covers 578 CCND2 variants and mutations. Of these, 75% have computational variant effect predictions. Disease context includes megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus, and neurodegenerative disease. Example CCND2 variants include E2*, E2V, and L3V.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable CCND2 variants

Examples include E2*, E2V, L3V, L3L, L3M, L3P, L4M, C5F. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.