CCND2 Chromosome 12
Cyclin D2
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What This Gene Does
The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with CDK4 or CDK6 and functions as a regulatory subunit of the complex, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. Knockout studies of the homologous gene in mouse suggest the essential roles of this gene in ovarian granulosa and germ cell proliferation. High level expression of this gene was observed in ovarian and testicular tumors. Mutations in this gene are associated with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3). [provided by RefSeq, Sep 2014]
Gene Info
Gene Group
Cyclins
Locus Type
gene with protein product
Location
12p13.32
Ensembl
ENSG00000118971
Associated Conditions (5)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
Inborn genetic diseases
CCND2-related disorder
Seizure
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
Key Variants
RS199719393
Conflicting classifications of pathogenicity
Health Risk
RS772187536
Conflicting classifications of pathogenicity
Health Risk
RS781695497
Conflicting classifications of pathogenicity
Health Risk
RS1864225645
Likely pathogenic
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
Health Risk
RS776036883
Likely pathogenic
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
Health Risk
RS1477693311
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1864224611
Pathogenic
Health Risk
RS587777619
Pathogenic
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
Health Risk
RS587777621
Pathogenic
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, Inborn genetic diseases, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
Health Risk
RS587777622
Pathogenic
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, CCND2-related disorder, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
Health Risk
RS587777618
Pathogenic/Likely pathogenic
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, Inborn genetic diseases, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
Health Risk
RS587777620
Pathogenic/Likely pathogenic
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, Seizure, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199719393 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS772187536 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS781695497 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1864225645 | Health Risk | Likely pathogenic | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 |
| RS776036883 | Health Risk | Likely pathogenic | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 |
| RS1477693311 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1864224611 | Health Risk | Pathogenic | — |
| RS587777619 | Health Risk | Pathogenic | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 |
| RS587777621 | Health Risk | Pathogenic | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, Inborn genetic diseases, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 |
| RS587777622 | Health Risk | Pathogenic | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, CCND2-related disorder, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 |
| RS587777618 | Health Risk | Pathogenic/Likely pathogenic | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, Inborn genetic diseases, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 |
| RS587777620 | Health Risk | Pathogenic/Likely pathogenic | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, Seizure, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 |
| RS777786993 | Health Risk | Pathogenic/Likely pathogenic | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |