Gene: CDKN2A
Alternate names for this Gene: ARF|CDK4I|CDKN2|CMM2|INK4|INK4A|MLM|MTS-1|MTS1|P14|P14ARF|P16|P16-INK4A|P16INK4|P16INK4A|P19|P19ARF|TP16
Gene Summary: This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, 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. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, the E3 ubiquitin-protein ligase MDM2, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene.
Gene is located in Chromosome: 9
Location in Chromosome : 9p21.3
Description of this Gene: cyclin dependent kinase inhibitor 2A
Type of Gene: protein-coding
Gene: CDKN2B-AS1
Alternate names for this Gene: ANRIL|CDKN2B-AS|CDKN2BAS|NCRNA00089|PCAT12|p15AS
Gene Summary: This gene is located within the CDKN2B-CDKN2A gene cluster at chromosome 9p21. The gene product is a functional RNA molecule that interacts with polycomb repressive complex-1 (PRC1) and -2 (PRC2), leading to epigenetic silencing of other genes in this cluster. This region is a significant genetic susceptibility locus for cardiovascular disease, and has also been linked to a number of other pathologies, including several cancers, intracranial aneurysm, type-2 diabetes, periodontitis, Alzheimer's disease, endometriosis, frailty in the elderly, and glaucoma. Multiple alternatively processed transcript variants have been detected, some of which may take the form of circular RNA molecules (PMID:21151960).
Gene is located in Chromosome: 9
Location in Chromosome : 9p21.3
Description of this Gene: CDKN2B antisense RNA 1
Type of Gene: ncRNA
rs1563902931 in
CDKN2A;CDKN2B-AS1 gene and
Hereditary Melanoma
PMID 11571653 2001 A melanoma-associated germline mutation in exon 1beta inactivates p14ARF.
PMID 15856016 2005 A mutation hotspot at the p14ARF splice site.
PMID 17440112 2007 Characterization of a germ-line deletion, including the entire INK4/ARF locus, in a melanoma-neural system tumor family: identification of ANRIL, an antisense noncoding RNA whose expression coclusters with ARF.
PMID 25803691 2015 Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.
PMID 25294512 2014 [CDKN2A-mutation in a family with hereditary malignant melanoma].