CDKN2A wt Allele

Preferred Label : CDKN2A wt Allele;

NCIt synonyms : MLM; TP16; ARF; INK4; MTS1; CMM2; p14ARF; CDKN2 Gene; INK4A; CDKN2; Cyclin-Dependent Kinase Inhibitor 2A wt Allele; p16INK4a; CDK4I; TSG9A; CDKN2A-p16(INK4a); CDKN2A-p14ARF; MTS-1; Cyclin-Dependent Kinase Inhibitor 2A (Melanoma, p16, Inhibits CDK4) Gene; P19ARF; P14; P16; P19; P16-INK4A; CDK2NA; P16INK4;

NCIt definition : Human CDKN2A wild-type allele is located in the vicinity of 9p21 and is approximately 27 kb in length. This allele, which encodes both cyclin-dependent kinase inhibitor 2A protein and and tumor suppressor ARF protein, is involved in cell cycle regulation at the G1 phase. The allele is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene.;

NCIt note : CDKN2A disruptions such as chromosomal inversions, translocations, and deletions are associated with malignancies and in a variety of malignant cell lines from glioma, non-small cell lung cancer, leukemia, melanoma and tumors of the breast, bone, skin, bladder, kidney, and ovary. Three alternatively spliced variants that encode distinct proteins have been reported in the literature, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants.;

GenBank Accession Number : L27211; NM_000077;

Details

Origin ID

C49511;

UMLS CUI

C1705280;

Automatic exact mappings (from CISMeF team)
- Acute kidney failure [ICD-11 Category]
- Acute respiratory failure [ICD-11 Subcategory]
- Acute rheumatic fever [Bloc CIM-11]
- Cyclin-Dependent kinase inhibitor p16 [MeSH Descriptor]
- Cyclin-dependent kinase inhibitor 2a [OMIM gene]
- Interleukin 23-alpha [OMIM gene]
- Late endosomal/lysosomal adaptor, mapk and mtor activator 2 [OMIM gene]
- Melanoma, cutaneous malignant, susceptibility to, 1 [OMIM Phenotype]
- Melanoma, cutaneous malignant, susceptibility to, 2 [OMIM Phenotype]
- Splicing factor 3b, subunit 6 [OMIM gene]
- Suppressor of anchorage independence 1 [OMIM gene]
- cyclin dependent kinase inhibitor 2A [ORDO Gene]
- cyclin dependent kinase inhibitor 2B [ORDO Gene]
- cyclin dependent kinase inhibitor 2D [ORDO Gene]
- genes, p16 [MeSH Descriptor]
- genes, p16 [MeSH concept]
- interleukin-23 complex [GO term]
- late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 [ORDO Gene]
- myristoylmethionine [MeSH Supplementary Concept]
- p16INK4a [LOINC component]
- tumor suppressor protein p14ARF [MeSH concept]
- tumor suppressor protein p14arf [MeSH Descriptor]
OMIM relation
- Cyclin-dependent kinase inhibitor 2a [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_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 9: 21984490-21957752 [NCIt concept]
gene_in_chromosomal_location
- 9p21 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Beckwith-Wiedemann Syndrome [NCIt concept]
- Hereditary Atypical Mole Melanoma Syndrome [NCIt concept]
- Hereditary Melanoma with CDKN2A Mutation [NCIt concept]
- Malignant Mesothelioma [NCIt concept]
- Melanoma-Astrocytoma Syndrome [NCIt concept]
- Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Pancreatic Intraepithelial Neoplasia-2 [NCIt concept]
- Skull Base Chordoma [NCIt concept]
gene_is_biomarker_type
- Tumor Marker [NCIt concept]
gene_is_element_in_pathway
- CTCF Pathway [NCIt concept]
- Cyclin Regulation of Cell Cycle Pathway [NCIt concept]
- G1/S Checkpoint Pathway [NCIt concept]
- Ribosomal Biogenesis Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Process [NCIt concept]
- Cell Cycle Progression [NCIt concept]
- Cell Cycle Regulation Process [NCIt concept]
- Cell Differentiation Process [NCIt concept]
- Cell Growth Regulation [NCIt concept]
- Negative Regulation of G1 Phase [NCIt concept]
- Tumor Suppression [NCIt concept]

Keyword's position in hierarchy(ies) :

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