CDKN2B-AS1 Chromosome 9
CDKN2B and CDKN2A antisense cis and trans regulatory RNA 1
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What This Gene Does
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). [provided by RefSeq, May 2014]
Gene Info
Gene Group
Antisense RNAs
Locus Type
RNA, long non-coding
Location
9p21.3
Ensembl
ENSG00000240498
Associated Conditions (1)
Three Vessel Coronary Disease
Key Variants
RS10757274
risk factor
Three Vessel Coronary Disease, Three Vessel Coronary Disease
Health Risk
RS1333049
risk factor
Three Vessel Coronary Disease, Three Vessel Coronary Disease
Health Risk
RS4977574
risk factor
Three Vessel Coronary Disease, Three Vessel Coronary Disease
Health Risk
RS1333042
protective
Three Vessel Coronary Disease, Three Vessel Coronary Disease
Protective
RS9632884
protective
Three Vessel Coronary Disease, Three Vessel Coronary Disease
Protective
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS10757274 | Health Risk | risk factor | Three Vessel Coronary Disease, Three Vessel Coronary Disease |
| RS1333049 | Health Risk | risk factor | Three Vessel Coronary Disease, Three Vessel Coronary Disease |
| RS4977574 | Health Risk | risk factor | Three Vessel Coronary Disease, Three Vessel Coronary Disease |
| RS1333042 | Protective | protective | Three Vessel Coronary Disease, Three Vessel Coronary Disease |
| RS9632884 | Protective | protective | Three Vessel Coronary Disease, Three Vessel Coronary Disease |