Cyclin D2

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Cyclin D2
Identifiers
Symbols CCND2 ; KIAK0002
External IDs OMIM123833 MGI88314 HomoloGene37525 ChEMBL: 3613 GeneCards: CCND2 Gene
RNA expression pattern
PBB GE CCND2 200953 s at tn.png
PBB GE CCND2 200951 s at tn.png
PBB GE CCND2 200952 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
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:
4.38 – 4.41 Mb
Chr 6:
127.13 – 127.15 Mb
PubMed search [1] [2]

G1/S-specific cyclin-D2 is a protein that in humans is encoded by the CCND2 gene.[1]

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 activtiy 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.[2]

Clinical significance[edit]

Mutations in CCND2 are associated to megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome .[3]

References[edit]

  1. ^ Inaba T, Matsushime H, Valentine M, Roussel MF, Sherr CJ, Look AT (Aug 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. 
  2. ^ "Entrez Gene: CCND2 cyclin D2". 
  3. ^ Mirzaa, G. M.; Parry, D. A.; Fry, A. E.; Giamanco, K. A.; Schwartzentruber, J; Vanstone, M; Logan, C. V.; Roberts, N; Johnson, C. A.; Singh, S; Kholmanskikh, S. S.; Adams, C; Hodge, R. D.; Hevner, R. F.; Bonthron, D. T.; Braun, K. P.; Faivre, L; Rivière, J. B.; St-Onge, J; Gripp, K. W.; Mancini, G. M.; Pang, K; Sweeney, E; Van Esch, H; Verbeek, N; Wieczorek, D; Steinraths, M; Majewski, J; Forge Canada, Consortium et al. (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.  edit

Further reading[edit]