Cyclin D2

G1/S-specific cyclin-D2 is a protein that in humans is encoded by the CCND2 gene.[5]

CCND2
Identifiers
AliasesCCND2, KIAK0002, MPPH3, cyclin D2
External IDsOMIM: 123833 MGI: 88314 HomoloGene: 37525 GeneCards: CCND2
Orthologs
SpeciesHumanMouse
Entrez

894

12444

Ensembl

ENSG00000118971

ENSMUSG00000000184

UniProt

P30279

P30280

RefSeq (mRNA)

NM_001759

NM_009829

RefSeq (protein)

NP_001750

NP_033959

Location (UCSC)Chr 12: 4.27 – 4.31 MbChr 6: 127.13 – 127.15 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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 cyclin-dependent 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 and functions as a regulatory subunit of CDK4 or CDK6, 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.[6]

Clinical significance

Mutations in CCND2 are associated to megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.[7]

References
  1. GRCh38: Ensembl release 89: ENSG00000118971 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000000184 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Inaba T, Matsushime H, Valentine M, Roussel MF, Sherr CJ, Look AT (Jul 1992). "Genomic organization, chromosomal localization, and independent expression of human cyclin D genes". Genomics. 13 (3): 565–74. doi:10.1016/0888-7543(92)90126-D. PMID 1386335.
  6. "Entrez Gene: CCND2 cyclin D2".
  7. Mirzaa GM, Parry DA, Fry AE, Giamanco KA, Schwartzentruber J, Vanstone M, Logan CV, Roberts N, Johnson CA, Singh S, Kholmanskikh SS, Adams C, Hodge RD, Hevner RF, Bonthron DT, Braun KP, Faivre L, Rivière JB, St-Onge J, Gripp KW, Mancini GM, Pang K, Sweeney E, van Esch H, Verbeek N, Wieczorek D, Steinraths M, Majewski J, Boycott KM, Pilz DT, Ross ME, Dobyns WB, Sheridan EG (May 2014). "De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome". Nature Genetics. 46 (5): 510–5. doi:10.1038/ng.2948. PMC 4004933. PMID 24705253.

Further reading
  • Overview of all the structural information available in the PDB for UniProt: P30279 (G1/S-specific cyclin-D2) at the PDBe-KB.


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