Basic Information
Transcripts
| ID | Sequence | Length | GC content |
|---|---|---|---|
| CDKN2B-AS1:77 | ACAGGGGGCUGACUCAGCUUGAGCAAACUCUUGCUAUCCCCUGCUGAGG… | 1601 nt | 0.4341 |
| CDKN2B-AS1:78 | GUACUUAGGCAAUCGGGAUCUUGCUUUAAGAAAAGGUAGGCAUUGGAGU… | 1653 nt | 0.3708 |
| CDKN2B-AS1:8 | AGCUACAUCCGUCACCUGACACGGCCCUACCAGGAACAGCCGCGCUCCC… | 1916 nt | 0.4165 |
| CDKN2B-AS1:9 | AGCUACAUCCGUCACCUGACACGGCCCUACCAGGAACAGCCGCGCUCCC… | 1067 nt | 0.4658 |
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). [provided by RefSeq, May 2014]
Forensic Context
A study in humans demonstrated that the CDKN2B-AS1 (ANRIL) was significantly upregulated in the plasma of coronary artery disease patients and showed significant diagnostic predictive value with an AUC of 0.82 in ROC analysis [Abdallah et al. DOI:10.1007/s40291-022-00622-1]. A review of studies in humans, mice, and rats indicates that the CDKN2B-AS1 is involved in atherosclerosis formation in coronary artery disease [Tian et al. DOI:10.3390/molecules26041155].