CCND2 wt Allele

Preferred Label : CCND2 wt Allele;

NCIt synonyms : KIAK0002; Cyclin D2 wt Allele; MPPH3;

NCIt definition : Human CCND2 wild-type allele is located in the vicinity of 12p13.32 and is approximately 32 kb in length. This allele, which encodes G1/S-specific cyclin D2 protein, plays a role in cell cycle regulation. Methylation of the gene generates allelic variants that are implicated in the pathogenesis of several cancers.;

NCIt note : Knockout studies of the homologous gene in mouse suggest that the essential roles of this gene are in ovarian granulosa and germ cell proliferation. High levels of CCND2 expression were observed in ovarian and testicular tumors. Methylation of the CCND2 promoter region results in decreased cyclin D2 protein levels and has been detected in both gastric and prostate cancers in humans. Conversely, cyclin D2 is overexpressed in human brain tumors, specifically astrocytomas and glioblastomas.;

GenBank Accession Number : NM_001759;

Details

Origin ID

C49523;

UMLS CUI

C1707087;

OMIM relation
- Cyclin d2 [OMIM gene]
See also inter- (CISMeF)
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- Cyclin D2 Messenger RNA Overexpression [NCIt concept]
gene_has_physical_location
- 12: 4253199-4284777 [NCIt concept]
gene_in_chromosomal_location
- 12p13.32 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Mantle Cell Lymphoma with CCND2 Rearrangement [NCIt concept]
gene_is_element_in_pathway
- Cell Cycle Pathway [NCIt concept]
- Cyclin Regulation of Cell Cycle Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Process [NCIt concept]
- Cell Cycle Regulation Process [NCIt concept]
- G1 to S Transition Process [NCIt concept]
- Protein Phosphorylation Process [NCIt concept]
- Protein-Protein Interaction [NCIt concept]

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