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

Gene ID: 100048912, updated on 28-Nov-2021

Summary

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]
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

See CDKN2B-AS1 in Genome Data Viewer
Location:
9p21.3
Exon count:
21
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (21994791..22121097)
105.20201022 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 divergent transcript Neighboring gene Sharpr-MPRA regulatory region 15403 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

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese.
GeneReviews: Not available
A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease.
GeneReviews: Not available
A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese.
GeneReviews: Not available
A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.
GeneReviews: Not available
A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma.
GeneReviews: Not available
A genome-wide association study of a coronary artery disease risk variant.
GeneReviews: Not available
A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.
GeneReviews: Not available
A genome-wide association study of optic disc parameters.
GeneReviews: Not available
A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.
GeneReviews: Not available
Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies.
GeneReviews: Not available
Chromosome 7p11.2 (EGFR) variation influences glioma risk.
GeneReviews: Not available
Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma.
GeneReviews: Not available
Common variants in CDKN2B-AS1 associated with optic-nerve vulnerability of glaucoma identified by genome-wide association studies in Japanese.
GeneReviews: Not available
Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.
GeneReviews: Not available
Common variants on chromosome 9p21 are associated with normal tension glaucoma.
GeneReviews: Not available
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
GeneReviews: Not available
Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA.
GeneReviews: Not available
Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm.
GeneReviews: Not available
Genome-wide association study identifies five new breast cancer susceptibility loci.
GeneReviews: Not available
Genome-wide association study identifies five susceptibility loci for glioma.
GeneReviews: Not available
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1.
GeneReviews: Not available
Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.
GeneReviews: Not available
Genome-wide association study of coronary and aortic calcification implicates risk loci for coronary artery disease and myocardial infarction.
GeneReviews: Not available
Genome-wide association study of coronary artery disease in the Japanese.
GeneReviews: Not available
Genome-wide association study of glioma and meta-analysis.
GeneReviews: Not available
Genome-Wide Association Study of Intracranial Aneurysm Identifies a New Association on Chromosome 7.
GeneReviews: Not available
Genome-wide association study of intracranial aneurysm identifies three new risk loci.
GeneReviews: Not available
Genome-wide association study of intracranial aneurysms confirms role of Anril and SOX17 in disease risk.
GeneReviews: Not available
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
GeneReviews: Not available
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
GeneReviews: Not available
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.
GeneReviews: Not available
Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.
GeneReviews: Not available
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
GeneReviews: Not available
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
GeneReviews: Not available
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
GeneReviews: Not available
Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.
GeneReviews: Not available
Susceptibility loci for intracranial aneurysm in European and Japanese populations.
GeneReviews: Not available
Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

Function Evidence Code Pubs
enables protein binding IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

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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
    ENST00000428597.6
  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
    ENST00000580576.6
  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
    ENST00000583719.5
  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
    ENST00000584351.5
  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
    ENST00000580467.5
  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
    ENST00000582301.5
  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
    Related
    ENST00000455933.7
  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 Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

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