CDKN2B Antisense RNA

Alternative Names

CDKN2BAS
CDKN2B-AS1
Antisense Noncoding RNA in the INK4 Locus
ANRIL

Length

126,307 bases

No. of Exons

Genomic Location

chr9:21,994,790-22,121,096

Gene Map Locus

9p21.3

Description

The CDKN2BAS gene is located near the CDKN2A-CDKN2B gene and codes for an antisense non-coding RNA. Although the exact function of this gene and the ncRNA it codes for is unknown, there is evidence pointing to the fact that it may regulate the expression of nearby protein coding genes, including CDKN2A, CDKN2B, and ARF. Functionally, this regulation may come about through its interaction with Polycomb Repressive Complex-1 (PRC1) and -2 (PRC2), resulting in epigenetic silencing of other genes in this cluster. The gene is expressed in a range of tissue types, including vascular endothelial cells and smooth coronary muscle cells.

This region, at chromosome 9p21, is a significant genetic susceptibility locus for cardiovascular disease, several cancers, intracranial aneurysm, type-2 diabetes, periodontitis, Alzheimer's disease, endometriosis, frailty in the elderly, and glaucoma.

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NR_003529.3:n.2449-316A>G	United Arab Emirates	NC_000009.12:g.22096056A>G	Risk factor	Likely Benign	Type 2 Diabetes Mellitus	NR_003529.3:n.2449-316A>G	10757274	812640
NR_003529.3:n.2698+1211A>G	Lebanon; United Arab E...	NC_000009.12:g.22098575A>G	Risk factor	Association, Likely Benign	Type 2 Diabetes Mellitus; Myocardial Infarction, Susceptibility to, 1	NR_003529.3:n.2698+1211A>G	4977574	812644
NR_003529.3:n.2908+1228A>G	United Arab Emirates	NC_000009.12:g.22115027A>G		Likely Benign	Type 2 Diabetes Mellitus	NR_003529.3:n.2908+1228A>G	2383206

Download Table

Other Reports

Saudi Arabia

Abdulazeez et al. (2016) performed a case-control study in order to investigate the association of 12 risk variants located at 9p21.3 with myocardial infarction (MI) in Saudi Arabian population. The study included 250 Saudi patients with CAD who had experienced an MI and 252 age matched healthy controls with no history of CAD. Results showed a significant difference in the genotypic distribution of four SNPs (rs564398, rs4977574, rs2891168, and rs1333042) in the CDKN2B-AS1 gene between cases and controls. The study identified three protective haplotypes (TAAG, AGTA and GGGCC) and a risk haplotype (TGGA) for the development of CAD. This study was in line with previous studies conducted worldwide indicating that the SNPs located in the intronic region of the CDKN2B-AS1 gene were associated with CAD.

External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=cdkn2bas

Contributors

Asha Deepthi: 21.03.2022
Pratibha Nair: 04.12.2016
Ameera Balobaid: 13.10.2016

Edit History

Pratibha Nair: 08.02.2023
Asha Deepthi: 21.03.2022
Sami Bizzari: 04.01.2017

Back to search Result