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    CDKN2B-AS1 CDKN2B antisense RNA 1 [ Homo sapiens (human) ]

    Gene ID: 100048912, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CDKN2B-AS1provided by HGNC
    Official Full Name
    CDKN2B antisense RNA 1provided by HGNC
    Primary source
    HGNC:HGNC:34341
    See related
    Ensembl:ENSG00000240498 MIM:613149; AllianceGenome:HGNC:34341
    Gene type
    ncRNA
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ANRIL; p15AS; PCAT12; CDKN2BAS; CDKN2B-AS; NCRNA00089
    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]
    Expression
    Biased expression in small intestine (RPKM 5.1), colon (RPKM 4.7) and 1 other tissue See more
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    Genomic context

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    See CDKN2B-AS1 in Genome Data Viewer
    Location:
    9p21.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (21994791..22128142)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (22009164..22142437)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (21994790..22128141)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:21968891-21969804 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19811 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28244 Neighboring gene uncharacterized LOC124902130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:21989455-21990037 Neighboring gene CDKN2A antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19813 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19814 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19815 Neighboring gene Sharpr-MPRA regulatory region 15403 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:22026023-22027222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28245 Neighboring gene cyclin dependent kinase inhibitor 2A Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 9:22068931 Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 6 Neighboring gene cyclin dependent kinase inhibitor 2B Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:22102887-22104086 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:22117311-22118510 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28246 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:22363678-22364189 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:22446999-22447498 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:22483523-22484150 Neighboring gene DMRT like family A1 Neighboring gene LINE-1 retrotransposable element ORF2 protein-like Neighboring gene long intergenic non-protein coding RNA 1239

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Expression and function of lncRNA ANRIL in a mouse model of acute myocardial infarction combined with type 2 diabetes mellitus. Zhang L, et al. J Chin Med Assoc, 2019 Sep. PMID 31469688
    2. ANRIL Variants Are Associated with Risk of Neuropsychiatric Conditions. Namvar A, et al. J Mol Neurosci, 2020 Feb. PMID 31773399
    3. ANRIL polymorphisms (rs1333049 and rs3217992) in relation to plasma CRP levels among in-patients with CHD. Reichert S, et al. Cytokine, 2020 Mar. PMID 31770616
    4. CDKN2B-AS1 Exerts Oncogenic Role in Osteosarcoma by Promoting Cell Proliferation and Epithelial to Mesenchymal Transition. Luo Y, et al. Cancer Biother Radiopharm, 2020 Feb. PMID 31724892
    5. ANRIL and atherosclerosis. Chen L, et al. J Clin Pharm Ther, 2020 Apr. PMID 31703157

    See all (328) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic variants of ANRIL and coronary artery disease: Insights from a Turkish study population.
      Title: Genetic variants of ANRIL and coronary artery disease: Insights from a Turkish study population.
    2. lncRNA CDKN2B-AS1 regulates collagen expression.
      Title: lncRNA CDKN2B-AS1 regulates collagen expression.
    3. Alternative splicing-related long noncoding RNA ANRIL facilitates hepatocellular carcinoma by targeting the miR-199a-5p/SRSF1 axis and impacting Anillin.
      Title: Alternative splicing-related long noncoding RNA ANRIL facilitates hepatocellular carcinoma by targeting the miR-199a-5p/SRSF1 axis and impacting Anillin.
    4. lncRNA CDKN2B-AS1 is downregulated in patients with ventricular fibrillation in acute myocardial infarction.
      Title: lncRNA CDKN2B-AS1 is downregulated in patients with ventricular fibrillation in acute myocardial infarction.
    5. Long Non-Coding RNA ANRIL Regulates Inflammatory Factor Expression in Ulcerative Colitis Via the miR-191-5p/SATB1 Axis.
      Title: Long Non-Coding RNA ANRIL Regulates Inflammatory Factor Expression in Ulcerative Colitis Via the miR-191-5p/SATB1 Axis.
    6. LncRNA ANRIL Promotes Glucose Metabolism and Proliferation of Colon Cancer in a High-Glucose Environment and is Associated with Worse Outcome in Diabetic Colon Cancer Patients.
      Title: LncRNA ANRIL Promotes Glucose Metabolism and Proliferation of Colon Cancer in a High-Glucose Environment and is Associated with Worse Outcome in Diabetic Colon Cancer Patients.
    7. The effects of ANRIL polymorphisms on colorectal cancer, tumor stage, and tumor grade among Iranian population.
      Title: The effects of ANRIL polymorphisms on colorectal cancer, tumor stage, and tumor grade among Iranian population.
    8. Downregulation of lncRNA CDKN2B-AS1 attenuates inflammatory response in mice with allergic rhinitis by regulating miR-98-5p/SOCS1 axis.
      Title: Downregulation of lncRNA CDKN2B-AS1 attenuates inflammatory response in mice with allergic rhinitis by regulating miR-98-5p/SOCS1 axis.
    9. Genetic variations in IKZF3, LET7-a2, and CDKN2B-AS1: Exploring associations with metabolic syndrome susceptibility and clinical manifestations.
      Title: Genetic variations in IKZF3, LET7-a2, and CDKN2B-AS1: Exploring associations with metabolic syndrome susceptibility and clinical manifestations.
    10. Associations between low serum levels of ANRIL and some common gene SNPs in Iranian patients with premature coronary artery disease.
      Title: Associations between low serum levels of ANRIL and some common gene SNPs in Iranian patients with premature coronary artery disease.
    Submit: New GeneRIF Correction See all GeneRIFs (265)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese.
    EBI GWAS Catalog
    A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease.
    EBI GWAS Catalog
    A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese.
    EBI GWAS Catalog
    A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.
    EBI GWAS Catalog
    A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma.
    EBI GWAS Catalog
    A genome-wide association study of a coronary artery disease risk variant.
    EBI GWAS Catalog
    A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.
    EBI GWAS Catalog
    A genome-wide association study of optic disc parameters.
    EBI GWAS Catalog
    A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.
    EBI GWAS Catalog
    Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies.
    EBI GWAS Catalog
    Chromosome 7p11.2 (EGFR) variation influences glioma risk.
    EBI GWAS Catalog
    Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma.
    EBI GWAS Catalog
    Common variants in CDKN2B-AS1 associated with optic-nerve vulnerability of glaucoma identified by genome-wide association studies in Japanese.
    EBI GWAS Catalog
    Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.
    EBI GWAS Catalog
    Common variants on chromosome 9p21 are associated with normal tension glaucoma.
    EBI GWAS Catalog
    Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
    EBI GWAS Catalog
    Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA.
    EBI GWAS Catalog
    Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm.
    EBI GWAS Catalog
    Genome-wide association study identifies five new breast cancer susceptibility loci.
    EBI GWAS Catalog
    Genome-wide association study identifies five susceptibility loci for glioma.
    EBI GWAS Catalog
    Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1.
    EBI GWAS Catalog
    Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.
    EBI GWAS Catalog
    Genome-wide association study of coronary and aortic calcification implicates risk loci for coronary artery disease and myocardial infarction.
    EBI GWAS Catalog
    Genome-wide association study of coronary artery disease in the Japanese.
    EBI GWAS Catalog
    Genome-wide association study of glioma and meta-analysis.
    EBI GWAS Catalog
    Genome-Wide Association Study of Intracranial Aneurysm Identifies a New Association on Chromosome 7.
    EBI GWAS Catalog
    Genome-wide association study of intracranial aneurysm identifies three new risk loci.
    EBI GWAS Catalog
    Genome-wide association study of intracranial aneurysms confirms role of Anril and SOX17 in disease risk.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    EBI GWAS Catalog
    Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
    EBI GWAS Catalog
    Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies.
    EBI GWAS Catalog
    Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.
    EBI GWAS Catalog
    Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
    EBI GWAS Catalog
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
    EBI GWAS Catalog
    Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.
    EBI GWAS Catalog
    Susceptibility loci for intracranial aneurysm in European and Japanese populations.
    EBI GWAS Catalog
    Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: MTAP

    Other Names

    • CDKN2B antisense RNA 1 (non-protein coding)
    • antisense noncoding RNA in the INK4 locus
    • p15 antisense RNA
    • prostate cancer associated transcript 12

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in heterochromatin formation IEA
    Inferred from Electronic Annotation
    more info
    		  

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    RNA

    1. NR_003529.4 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL354709, AL449423
      Related
      ENST00000428597.7

    2. NR_047532.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL354709, AL449423
      Related
      ENST00000580576.6

    3. NR_047533.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL354709, AL449423

    4. NR_047534.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL354709, AL449423
      Related
      ENST00000585267.6

    5. NR_047535.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL354709, AL449423
      Related
      ENST00000581051.5

    6. NR_047536.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL354709, AL449423
      Related
      ENST00000577551.5

    7. NR_047537.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL354709, AL449423

    8. NR_047538.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL354709, AL449423

    9. NR_047539.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL354709, AL449423
      Related
      ENST00000584351.5

    10. NR_047540.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL354709, AL449423

    11. NR_047541.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL354709, AL449423

    12. NR_047542.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL354709, AL449423
      Related
      ENST00000455933.8

    13. NR_047543.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL354709, AL449423
      Related
      ENST00000582072.5

    14. NR_120536.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AB548314, BC038540, DQ485453, GQ495918

    15. NR_185850.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL354709, AL449423

    16. NR_185851.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL354709, AL449423

    17. NR_185852.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL354709, AL449423

    18. NR_185853.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL354709, AL449423

    19. NR_185854.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL354709, AL449423

    20. NR_185855.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL354709, AL449423

    21. NR_185856.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL354709, AL449423

    22. NR_185857.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL354709, AL449423

    23. NR_185858.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL354709, AL449423

    24. NR_185859.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL354709, AL449423

    25. NR_185860.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL354709, AL449423

    26. NR_185861.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL354709, AL449423

    27. NR_185862.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL354709, AL449423

    28. NR_185863.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL354709, AL449423

    29. NR_185864.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL354709, AL449423

    30. NR_185865.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL354709, AL449423

    31. NR_185866.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL354709, AL449423

    32. NR_185867.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL354709, AL449423

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      21994791..22128142
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      22009164..22142437
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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