Gene: CDKN2B

Alternate names for this Gene: CDK4I|INK4B|MTS2|P15|TP15|p15INK4b

Gene Summary: This gene lies adjacent to the tumor suppressor gene CDKN2A in a region that is frequently mutated and deleted in a wide variety of tumors. This gene encodes a cyclin-dependent kinase inhibitor, which forms a complex with CDK4 or CDK6, and prevents the activation of the CDK kinases, thus the encoded protein functions as a cell growth regulator that controls cell cycle G1 progression. The expression of this gene was found to be dramatically induced by TGF beta, which suggested its role in the TGF beta induced growth inhibition. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported.

Gene is located in Chromosome: 9

Location in Chromosome : 9p21.3

Description of this Gene: cyclin dependent kinase inhibitor 2B

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

rs1063192 in CDKN2B;CDKN2B-AS1 gene and Calcification of coronary artery PMID 22144573 2011 Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction.

PMID 23394302 2013 Risk loci for coronary artery calcification replicated at 9p21 and 6q24 in the Heinz Nixdorf Recall Study.

rs3217978 in CDKN2B;CDKN2B-AS1 gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs1063192 in CDKN2B;CDKN2B-AS1 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 30054458 2018 Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.

rs1063192 in CDKN2B;CDKN2B-AS1 gene and Glaucoma PMID 21532571 2011 Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1.

rs1063192 in CDKN2B;CDKN2B-AS1 gene and Glaucoma, Open-Angle PMID 22419738 2012 A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma.

PMID 22570617 2012 Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma.

rs1063192 in CDKN2B;CDKN2B-AS1 gene and Glioma PMID 21531791 2011 Chromosome 7p11.2 (EGFR) variation influences glioma risk.

PMID 19578367 2009 Genome-wide association study identifies five susceptibility loci for glioma.

rs1063192 in CDKN2B;CDKN2B-AS1 gene and Nasopharyngeal Neoplasms PMID 26545403 2016 A GWAS Meta-analysis and Replication Study Identifies a Novel Locus within CLPTM1L/TERT Associated with Nasopharyngeal Carcinoma in Individuals of Chinese Ancestry.

rs2069426 in CDKN2B;CDKN2B-AS1 gene and Precursor Cell Lymphoblastic Leukemia Lymphoma PMID 29348612 2018 GWAS in childhood acute lymphoblastic leukemia reveals novel genetic associations at chromosomes 17q12 and 8q24.21.