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

    Gene ID: 100048912, updated on 19-Mar-2017
    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
    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]
    See CDKN2B-AS1 in Genome Data Viewer Map Viewer
    Location:
    9p21.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (21994791..22121097)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (21994790..22121096)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene tubulin beta 8 class VIII pseudogene 1 Neighboring gene methylthioadenosine phosphorylase Neighboring gene CDKN2A antisense RNA 1 (head to head) Neighboring gene cyclin dependent kinase inhibitor 2A Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 6 Neighboring gene cyclin dependent kinase inhibitor 2B Neighboring gene DMRT like family A1 Neighboring gene uncharacterized LOC107987054 Neighboring gene long intergenic non-protein coding RNA 1239

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

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

    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

    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_003529.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript.
      Source sequence(s)
      AL354709, BC038540, CB109081, DQ485453
      Related
      ENST00000428597
    2. NR_047532.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks multiple internal exons and includes an alternate internal exon, resulting in a shorter transcript, compared to variant 1.
      Source sequence(s)
      AB548314, BC038540, DQ485453, DQ485454, GQ495926
      Related
      ENST00000580576
    3. NR_047533.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13) lacks multiple exons and includes an alternate 3' terminal exon, resulting in a shorter transcript, compared to variant 1.
      Source sequence(s)
      DQ485453, GQ422823
      Related
      ENST00000583719
    4. NR_047534.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4, also known as 1-5-6-15-16-17-18-19-20) lacks multiple internal exons, resulting in a shorter transcript, compared to variant 1.
      Source sequence(s)
      BC038540, DQ485453, GQ495925
    5. NR_047535.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5, also known as 1-5-6-7-16-18-19-20) lacks multiple internal exons, resulting in a shorter transcript, compared to variant 1.
      Source sequence(s)
      AB548314, BC038540, DQ485453, GQ495922
    6. NR_047536.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6, also known as 1-5-6-16-18-19-20) lacks multiple internal exons, resulting in a shorter transcript, compared to variant 1.
      Source sequence(s)
      AB548314, BC038540, DQ485453, GQ495920
    7. NR_047537.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7, also known as 1-5-6-7-19-20) lacks multiple internal exons, resulting in a shorter transcript, compared to variant 1.
      Source sequence(s)
      AB548314, BC038540, DQ485453, GQ495921
    8. NR_047538.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8, also known as 1-5-6-19-20) lacks multiple internal exons, resulting in a shorter transcript, compared to variant 1.
      Source sequence(s)
      AB548314, BC038540, DQ485453, GQ495919
    9. NR_047539.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9, also known as small) lacks multiple exons and includes an alternate 3' terminal exon, resulting in a shorter transcript, compared to variant 1.
      Source sequence(s)
      BI860238, DQ485454, GQ495926
      Related
      ENST00000584351
    10. NR_047540.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10, also known as 1-5-6-7-9-10-12-13) lacks multiple exons and includes an alternate 3' terminal exon, resulting in a shorter transcript, compared to variant 1.
      Source sequence(s)
      DQ485453, GQ495926
      Related
      ENST00000580467
    11. NR_047541.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11, also known as 1-5-6-7-10-13) lacks multiple exons and includes an alternate 3' terminal exon, resulting in a shorter transcript, compared to variant 1.
      Source sequence(s)
      AB548314, GQ495924, GQ495926
      Related
      ENST00000582301
    12. NR_047542.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) lacks multiple exons and includes an alternate 3' terminal exon, resulting in a shorter transcript, compared to variant 1.
      Source sequence(s)
      AB548314, EU741058, GQ495924
    13. NR_047543.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, also known as 1-5-6-7-16-17-18-19-20) lacks multiple internal exons, resulting in a shorter transcript, compared to variant 1.
      Source sequence(s)
      AB548314, BC038540, DQ485453, GQ495923
    14. NR_120536.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14, also known as 1-5-6-20) lacks multiple internal exons, resulting in a shorter transcript, compared to variant 1.
      Source sequence(s)
      AB548314, BC038540, DQ485453, GQ495918

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

      Range
      21994791..22121097
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      21994619..22120920
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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