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

Gene ID: 100048912, updated on 2-May-2024

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; 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

See CDKN2B-AS1 in Genome Data Viewer
Location:
9p21.3
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (21994791..22128142)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (22009164..22142437)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (21994790..22121096)

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

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

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

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

Process Evidence Code Pubs
involved_in heterochromatin formation 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_003529.4 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL354709, AL449423
    Related
    ENST00000428597.6
  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
    ENST00000585267.5
  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
  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_2023_10

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)