Cyclin D2

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cyclin D2
Identifiers
Aliases CCND2, KIAK0002, MPPH3, cyclin D2
External IDs MGI: 88314 HomoloGene: 37525 GeneCards: 894
Genetically Related Diseases
Disease Name References
colorectal cancer
RNA expression pattern
PBB GE CCND2 200951 s at tn.png

PBB GE CCND2 200952 s at tn.png

PBB GE CCND2 200953 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001759

NM_009829

RefSeq (protein)

NP_001750.1

NP_033959.1

Location (UCSC) Chr 12: 4.27 – 4.31 Mb Chr 6: 127.13 – 127.15 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

G1/S-specific cyclin-D2 is a protein that in humans is encoded by the CCND2 gene.[4]

Function[edit]

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.[5]

Clinical significance[edit]

Mutations in CCND2 are associated to megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome .[6]

References[edit]

  1. ^ "chibi.ubc.ca/Gemma/phenotypes.html?phenotypeUrlId=DOID_9256&geneId=19619". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ 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. 
  5. ^ "Entrez Gene: CCND2 cyclin D2". 
  6. ^ 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 4004933free to read. PMID 24705253. 

Further reading[edit]