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Wikipedia

CDKN2BAS

March 09, 2024

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.[3] 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.[4][5]

CDKN2B-AS1
Identifiers
AliasesCDKN2B-AS1, ANRIL, CDKN2B-AS, CDKN2BAS, NCRNA00089, PCAT12, p15AS, CDKN2B antisense RNA 1
External IDsOMIM: 613149 GeneCards: CDKN2B-AS1
Orthologs
SpeciesHumanMouse
Entrez

100048912

n/a

Ensembl

ENSG00000240498

n/a

UniProt

n
a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)Chr 9: 21.99 – 22.13 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human
CDKN2B antisense RNA 1 intronic convserved region
Predicted secondary structure and sequence conservation of CDKN2B-AS
Identifiers
SymbolCDKN2B-AS
Alt. SymbolsANRIL
RfamRF01909
Other data
RNA typeGene;
Domain(s)Eukaryota;
GOGO:0006342 GO:0005515
SOSO:0001463
PDB structuresPDBe

See also edit

References edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000240498 - Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  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.
  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.
  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.

Further reading edit

  • 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 edit

  • 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.

March 09, 2024
cdkn2bas, cdkn2b, also, known, anril, antisense, coding, ink4, locus, long, coding, consisting, exons, spanning, genome, spliced, product, 3834bp, located, within, cdkn2b, cdkn2a, gene, cluster, antisense, direction, single, nucleotide, polymorphisms, snps, wh. 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 3 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 4 5 CDKN2B AS1IdentifiersAliasesCDKN2B AS1 ANRIL CDKN2B AS CDKN2BAS NCRNA00089 PCAT12 p15AS CDKN2B antisense RNA 1External IDsOMIM 613149 GeneCards CDKN2B AS1Gene location Human Chr Chromosome 9 human 1 Band9p21 3Start21 994 139 bp 1 End22 128 103 bp 1 RNA expression patternBgeeHumanMouse ortholog Top expressed inrectumright uterine tubeanterior pituitarypancreatic ductal celltibialis anterior musclesural nervestromal cell of endometriumbone marrow cellsAchilles tendonmonocyten aMore reference expression dataBioGPSn aOrthologsSpeciesHumanMouseEntrez100048912n aEnsemblENSG00000240498n aUniProtnan aRefSeq mRNA n an aRefSeq protein n an aLocation UCSC Chr 9 21 99 22 13 Mbn aPubMed search 2 n aWikidataView Edit HumanCDKN2B antisense RNA 1 intronic convserved regionPredicted secondary structure and sequence conservation of CDKN2B ASIdentifiersSymbolCDKN2B ASAlt SymbolsANRILRfamRF01909Other dataRNA typeGene Domain s Eukaryota GOGO 0006342 GO 0005515SOSO 0001463PDB structuresPDBe Contents 1 See also 2 References 3 Further reading 4 External linksSee also editLong noncoding RNAReferences edit a b c 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 Munoz 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 Further reading editMussotter T Kluwe L Hogel 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 Malarstig 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 Niemela 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 editPage 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 Retrieved from https en wikipedia org w index php title CDKN2BAS amp oldid 1188049789, wikipedia, wiki, book, books, library,

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