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

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

rs1287464120 in CDKN2B-AS1;CDKN2A gene and Hereditary Melanoma PMID 11571653 2001 A melanoma-associated germline mutation in exon 1beta inactivates p14ARF.

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 15856016 2005 A mutation hotspot at the p14ARF splice site.

rs61271866 in CDKN2B-AS1;CDKN2A gene and Squamous cell carcinoma of esophagus PMID 25129146 2014 Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.