CDKN1C wt Allele

Preferred Label : CDKN1C wt Allele;

NCIt synonyms : WBS; KIP2 Gene; BWCR; Cyclin Dependent Kinase Inhibitor 1C wt Allele; p57; KIP2; BWS; P57-Kip2 Gene; Cyclin-Dependent Kinase Inhibitor 1C (p57, Kip2) Gene; p57(KIP2); p57Kip2; Cyclin-Dependent Kinase Inhibitor 1C Gene;

NCIt definition : Human CDKN1C wild-type allele located in the vicinity of 11p15.5 and is approximately 2 kb in length. This allele, which encodes cyclin-dependent kinase inhibitor 1C protein, plays a negative role in the regulation of cellular proliferation by inhibiting several G1 cyclin/Cdk complexes. Mutations of the gene, which generates variant alleles have been implicated in both sporadic cancers and Beckwith-Wiedemann syndrome, suggesting that it is a tumor suppressor candidate.;

GenBank Accession Number : U22398;

Details

Origin ID

C49510;

UMLS CUI

C1706028;

OMIM relation
- Cyclin-dependent kinase inhibitor 1c [OMIM gene]
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_associated_with_disease
- Exocrine Pancreas Carcinoma [NCIt concept]
- Thyroid Gland Carcinoma [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 11: 2863551-2861452 [NCIt concept]
gene_in_chromosomal_location
- 11p15.5 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Beckwith-Wiedemann Syndrome [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Process [NCIt concept]
- Cell Cycle Progression [NCIt concept]
- Cell Cycle Regulation Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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