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Cyclin D2

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Title: Cyclin D2  
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Subject: Postreplication checkpoint, Cyclin B2, CDKN2D, CDKN2C, Prophase
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Cyclin D2

Cyclin D2
Identifiers
Symbols  ; KIAK0002
External IDs ChEMBL: GeneCards:
RNA expression pattern
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

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

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

References

  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.  
  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.  

Further reading

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