AlphaFold predicted structure
CCND2 · P30279
Mean pLDDT
87.9/ 100
Confident
289 residues
Confidence breakdown
- Very high(≥ 90)72%
- Confident(70–90)14%
- Low(50–70)9%
- Very low(< 50)5%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
CCND2
Chr 12p13.32cyclin D2
- MANE:
- ENST00000261254.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHydrocephalus
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLimb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownMalformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedNeurological segmental overgrowth
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedSegmental overgrowth disorders - Deep sequencing
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
+2 more panels — install the extension to see the full list inline on any page.
Disease associations (Open Targets)
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
0.80Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
0.73neurodegenerative disease
0.57hereditary disease
0.51diabetes mellitus
0.51type 2 diabetes mellitus
0.49colorectal cancer
0.46megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
0.45diabetic eye disease
0.42colorectal adenocarcinoma
0.41
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
G1/S-specific cyclin-D2
Regulatory component of the cyclin D2-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 (PubMed:18827403, PubMed:8114739). 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 (PubMed:18827403, PubMed:8114739). Hypophosphorylates RB1 in early G(1) phase (PubMed:18827403, PubMed:8114739). Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals (PubMed:18827403, PubMed:8114739)
Diseases associated with CCND2
Curated MONDO disease pages that list CCND2 among their top associated genes.