CDKN2BAS

CDKN2B antisense RNA 1 intronic convserved region
CDKN2B antisense RNA 1 intronic convserved region
	Predicted secondary structure and sequence conservation of CDKN2B-AS
Identifiers
Symbol	CDKN2B-AS
Alt. Symbols	ANRIL
Rfam	RF01909
Other data
RNA type	Gene;
Domain	Eukaryota;
GO	GO:0006342 GO:0005515
SO	SO:0001463
PDB structures	PDBe

CDKN2B-AS1
Identifiers
Aliases	CDKN2B-AS1, ANRIL, CDKN2B-AS, CDKN2BAS, NCRNA00089, PCAT12, p15AS, CDKN2B antisense RNA 1
External IDs	OMIM: 613149; GeneCards: CDKN2B-AS1
Gene location (Human)
Chr.	Chromosome 9 (human)
End	22,128,103 bp
RNA expression pattern
	Top expressed in
	mucosa of transverse colon; ; rectum; ; epithelium of colon; ; testicle; ; gonad; ; right uterine tube; ; anterior pituitary; ; pancreatic ductal cell; ; tibialis anterior muscle; ; sural nerve;
	n/a
	More reference expression data
	n/a
Orthologs
Databases	NCBI: entry; OMA: entry
	100048912
	n/a
	ENSG00000240498
	n/a
	n; a
	n/a
	n/a
	n/a
	n/a
	n/a
	Wikidata
View/Edit Human

CDKN2B-AS, also known as ANRIL (antisense non-coding RNA in the INK4 locus) is a long non-coding RNA consisting of 19 exons, spanning 126.3kb in the genome, and its spliced product is a 3834bp RNA. It is located within the p15/CDKN2B-p16/CDKN2A-p14/ARF gene cluster, in the antisense direction. Single nucleotide polymorphisms (SNPs) which alter the expression of CDKN2B-AS are associated with human healthy life expectancy, as well as with multiple diseases, including coronary artery disease, diabetes and many cancers. It binds to chromobox 7 (CBX7) within the polycomb repressive complex 1 and to SUZ12, a component of polycomb repression complex 2 and through these interactions is involved in transcriptional repression.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000240498 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Cunnington MS, Santibanez Koref M, Mayosi BM, Burn J, Keavney B (April 2010). Gibson G (ed.). "Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression". PLOS Genetics. 6 (4) e1000899. doi:10.1371/journal.pgen.1000899. PMC 2851566. PMID 20386740.
↑ Yap KL, Li S, Muñoz-Cabello AM, Raguz S, Zeng L, Mujtaba S, et al. (June 2010). "Molecular interplay of the noncoding RNA ANRIL and methylated histone H3 lysine 27 by polycomb CBX7 in transcriptional silencing of INK4a". Molecular Cell. 38 (5): 662–674. doi:10.1016/j.molcel.2010.03.021. PMC 2886305. PMID 20541999.
↑ Kotake Y, Nakagawa T, Kitagawa K, Suzuki S, Liu N, Kitagawa M, Xiong Y (April 2011). "Long non-coding RNA ANRIL is required for the PRC2 recruitment to and silencing of p15(INK4B) tumor suppressor gene". Oncogene. 30 (16): 1956–1962. doi:10.1038/onc.2010.568. PMC 3230933. PMID 21151178.

Mußotter T, Kluwe L, Högel J, Nguyen R, Cooper DN, Mautner VF, Kehrer-Sawatzki H (October 2012). "Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions". BMC Medical Genetics. 13 98. doi:10.1186/1471-2350-13-98. PMC 3500256. PMID 23101500.
McPherson R, Pertsemlidis A, Kavaslar N, Stewart A, Roberts R, Cox DR, et al. (June 2007). "A common allele on chromosome 9 associated with coronary heart disease". Science. 316 (5830): 1488–1491. Bibcode:2007Sci...316.1488M. doi:10.1126/science.1142447. PMC 2711874. PMID 17478681.
Folkersen L, Kyriakou T, Goel A, Peden J, Mälarstig A, Paulsson-Berne G, et al. (November 2009). Reitsma PH (ed.). "Relationship between CAD risk genotype in the chromosome 9p21 locus and gene expression. Identification of eight new ANRIL splice variants". PLOS ONE. 4 (11) e7677. Bibcode:2009PLoSO...4.7677F. doi:10.1371/journal.pone.0007677. PMC 2765615. PMID 19888323.
Uno S, Zembutsu H, Hirasawa A, Takahashi A, Kubo M, Akahane T, et al. (August 2010). "A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese". Nature Genetics. 42 (8): 707–710. doi:10.1038/ng.612. PMID 20601957. S2CID 205356736.
Wrensch M, Jenkins RB, Chang JS, Yeh RF, Xiao Y, Decker PA, et al. (August 2009). "Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility". Nature Genetics. 41 (8): 905–908. doi:10.1038/ng.408. PMC 2923561. PMID 19578366.
Bilguvar K, Yasuno K, Niemelä M, Ruigrok YM, von Und Zu Fraunberg M, van Duijn CM, et al. (December 2008). "Susceptibility loci for intracranial aneurysm in European and Japanese populations". Nature Genetics. 40 (12): 1472–1477. doi:10.1038/ng.240. PMC 2682433. PMID 18997786.
Sato K, Nakagawa H, Tajima A, Yoshida K, Inoue I (September 2010). "ANRIL is implicated in the regulation of nucleus and potential transcriptional target of E2F1". Oncology Reports. 24 (3): 701–707. doi:10.3892/or_00000910. PMID 20664976.
Yasuno K, Bilguvar K, Bijlenga P, Low SK, Krischek B, Auburger G, et al. (May 2010). "Genome-wide association study of intracranial aneurysm identifies three new risk loci". Nature Genetics. 42 (5): 420–425. doi:10.1038/ng.563. PMC 2861730. PMID 20364137.
Broadbent HM, Peden JF, Lorkowski S, Goel A, Ongen H, Green F, et al. (March 2008). "Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked SNPs in the ANRIL locus on chromosome 9p". Human Molecular Genetics. 17 (6): 806–814. doi:10.1093/hmg/ddm352. PMID 18048406.
Hashikata H, Liu W, Inoue K, Mineharu Y, Yamada S, Nanayakkara S, et al. (June 2010). "Confirmation of an association of single-nucleotide polymorphism rs1333040 on 9p21 with familial and sporadic intracranial aneurysms in Japanese patients". Stroke. 41 (6): 1138–1144. doi:10.1161/STROKEAHA.109.576694. hdl:2433/142049. PMID 20395613.
Helgadottir A, Thorleifsson G, Manolescu A, Gretarsdottir S, Blondal T, Jonasdottir A, et al. (June 2007). "A common variant on chromosome 9p21 affects the risk of myocardial infarction". Science. 316 (5830): 1491–1493. Bibcode:2007Sci...316.1491H. doi:10.1126/science.1142842. PMID 17478679. S2CID 71851374.
Yang XR, Liang X, Pfeiffer RM, Wheeler W, Maeder D, Burdette L, et al. (December 2010). "Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations". Familial Cancer. 9 (4): 625–633. doi:10.1007/s10689-010-9356-3. PMC 3233727. PMID 20574843.
Shete S, Hosking FJ, Robertson LB, Dobbins SE, Sanson M, Malmer B, et al. (August 2009). "Genome-wide association study identifies five susceptibility loci for glioma". Nature Genetics. 41 (8): 899–904. doi:10.1038/ng.407. PMC 4501476. PMID 19578367.
Bei JX, Li Y, Jia WH, Feng BJ, Zhou G, Chen LZ, et al. (July 2010). "A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci". Nature Genetics. 42 (7): 599–603. doi:10.1038/ng.601. PMID 20512145. S2CID 205356689.
Turnbull C, Ahmed S, Morrison J, Pernet D, Renwick A, Maranian M, et al. (June 2010). "Genome-wide association study identifies five new breast cancer susceptibility loci". Nature Genetics. 42 (6): 504–507. doi:10.1038/ng.586. PMC 3632836. PMID 20453838.
Schaefer AS, Richter GM, Groessner-Schreiber B, Noack B, Nothnagel M, El Mokhtari NE, et al. (February 2009). Marchini J (ed.). "Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis". PLOS Genetics. 5 (2) e1000378. doi:10.1371/journal.pgen.1000378. PMC 2632758. PMID 19214202.
Chen L, Qu H, Guo M, Zhang Y, Cui Y, Yang Q, et al. (April 2020). "ANRIL and atherosclerosis". Journal of Clinical Pharmacy and Therapeutics. 45 (2): 240–248. doi:10.1111/jcpt.13060. PMID 31703157. S2CID 207956113.

External links

Page for CDKN2B antisense RNA 1 intronic conserved region at Rfam
Human CDKN2B-AS genome location and CDKN2B-AS gene details page in the UCSC Genome Browser.
Human CDKN2B-AS1 genome location and CDKN2B-AS1 gene details page in the UCSC Genome Browser.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000240498 – Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid20386740-3] Cunnington MS, Santibanez Koref M, Mayosi BM, Burn J, Keavney B (April 2010). Gibson G (ed.). "Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression". PLOS Genetics. 6 (4) e1000899. doi:10.1371/journal.pgen.1000899. PMC 2851566. PMID 20386740.

[pmid20541999-4] Yap KL, Li S, Muñoz-Cabello AM, Raguz S, Zeng L, Mujtaba S, et al. (June 2010). "Molecular interplay of the noncoding RNA ANRIL and methylated histone H3 lysine 27 by polycomb CBX7 in transcriptional silencing of INK4a". Molecular Cell. 38 (5): 662–674. doi:10.1016/j.molcel.2010.03.021. PMC 2886305. PMID 20541999.

[pmid21151178-5] Kotake Y, Nakagawa T, Kitagawa K, Suzuki S, Liu N, Kitagawa M, Xiong Y (April 2011). "Long non-coding RNA ANRIL is required for the PRC2 recruitment to and silencing of p15(INK4B) tumor suppressor gene". Oncogene. 30 (16): 1956–1962. doi:10.1038/onc.2010.568. PMC 3230933. PMID 21151178.

CDKN2BAS

See also

References

Further reading

External links