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CDKN2B-AS1 Gene

RNA gene   GIFtS: 26
GCID: GC09P021994

CDKN2B Antisense RNA 1

(Previous name: CDKN2B antisense RNA 1 (non-protein coding))
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Subcategory (RNA class): antisense

Quality score for this RNA gene is 3

Aliases
CDKN2B Antisense RNA 11 2     P15 Antisense RNA1
ANRIL2 5     Prostate Cancer Associated Transcript 121
CDKN2BAS2 5     CDKN2B-AS2
Antisense RNA In The INK4 Locus1     NCRNA000892
CDKN2B Antisense RNA (Non-Protein Coding)1     PCAT122
CDKN2B Antisense RNA 1 (Non-Protein Coding)1     p15AS2
Non-Protein Coding RNA 891     

External Ids:    HGNC: 343411   Entrez Gene: 1000489122   Ensembl: ENSG000002404987   OMIM: 6131495   
ORGUL members:         

Export aliases for CDKN2B-AS1 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CDKN2B-AS1 Gene:
This gene is located within the CDKN2B-CDKN2A gene cluster at chromosome 9p21 locus, which is the strongest
genetic susceptibility locus for cardiovascular diseases, and also linked to several cancers, intracranial
aneurysm, type-2 diabetes, periodontitis, Alzheimer's disease, endometriosis, frailty in the elderly, and
glaucoma. Many disease-associated single-nucleotide polymorphisms in this locus affect the structure and
expression of this gene, suggesting that modulation of this gene expression mediates disease susceptibility. This
gene interacts with both polycomb repressive complex-1 (PRC1) and -2 (PRC2), and may function as a regulator for
epigenetic transcriptional repression. Multiple alternatively spliced transcript variants have been generated
from this gene, and all of them are long non-coding RNAs. It has been found that some of splice variants are
tissue specific, and different splice variants may have distinct roles in cell physiology. (provided by RefSeq,
Jun 2012)

GeneCards Summary for CDKN2B-AS1 Gene:
CDKN2B-AS1 (CDKN2B antisense RNA 1) is an RNA gene, and is affiliated with the antisense RNA class. Diseases associated with CDKN2B-AS1 include intracranial aneurysm, and endometriosis.

Gene Wiki entry for CDKN2B-AS1 (CDKN2BAS) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000009.12  NC_018920.2  NT_008413.19  
Regulatory elements:
   Search for regulatory transcription factor binding sites for CDKN2B-AS1
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CDKN2B-AS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9p21.3   Ensembl cytogenetic band:  9p21.3   HGNC cytogenetic band: 9p21.3

CDKN2B-AS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CDKN2B-AS1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P021994:  view genomic region     (about GC identifiers)

Start:
21,994,777 bp from pter      End:
22,121,096 bp from pter
Size:
126,320 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for CDKN2B-AS1

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB: --


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
LNCRNA: Long non-coding RNAs

  --

(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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Interactions:

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Tocris compounds for CDKN2B-AS1



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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Unigene Cluster for CDKN2B-AS1:

CDKN2B antisense RNA 1
Hs.493614  [show with all ESTs]
Unigene Representative Sequence: NR_003529
17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000468603(antisense) ENST00000584351(antisense) ENST00000583719(antisense) ENST00000580467(antisense) ENST00000585267(antisense)
ENST00000580576(antisense) ENST00000428597(antisense) ENST00000582301(antisense) ENST00000584816(antisense) ENST00000584020(antisense)
ENST00000577551(antisense) ENST00000584637(antisense) ENST00000581051(antisense) ENST00000582072(antisense) ENST00000455933(antisense)
ENST00000421632(antisense) ENST00000422420(antisense)

miRNA
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Additional mRNA sequence: 

AB548314.1 BC038540.1 DQ485453.1 DQ485454.1 EU741058.1 NR_003529.3 NR_047532.1 NR_047533.1 
NR_047534.1 NR_047535.1 NR_047536.1 NR_047537.1 NR_047538.1 NR_047539.1 NR_047540.1 NR_047541.1 
NR_047542.1 NR_047543.1 

4 DOTS entries:

DT.70102474  DT.100008880  DT.444664  DT.75175573 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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Expression evidence for CDKN2B-AS1:none

CDKN2B-AS1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TAATCCTCAT
CDKN2B-AS1 Expression
About this image

CDKN2B-AS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

SOURCE GeneReport for Unigene cluster: Hs.493614
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In Situ
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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  --

ENSEMBL Gene Tree for CDKN2B-AS1 (if available)
TreeFam Gene Tree for CDKN2B-AS1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for CDKN2B-AS1 (see all 2816)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 9 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs2009593861,2
--21959894(+) CCTTT-/TATGGGT 13 -- int10--------
rs1820545601,2
--21996534(+) TTTCTG/TTATAG 13 -- int10--------
rs351588951,2
C,F--21996624(+) GATCCTT/-TTATG 13 -- int13Minor allele frequency- -:0.41NA EA 22
rs1136468861,2
C,F--21996646(+) TGCACCT/-ATGCC 13 -- int12Minor allele frequency- -:0.30CSA EA 20
rs1905648961,2
C--21996647(+) GCACCC/TATGCC 13 -- int10--------
rs760374471,2
C,F--21996712(+) GGGGGG/ACATTA 13 -- int11Minor allele frequency- A:0.04EA 120
rs736528161,2
C,F--21996780(+) AAAACG/AATGTC 13 -- int13Minor allele frequency- A:0.15WA CSA 121
rs736528171,2
C,F--21996835(+) GGGAGC/AGGTGA 13 -- int13Minor allele frequency- A:0.14WA CSA 121
rs736528181,2
C--21996863(+) ACAATG/ATAACT 13 -- int13Minor allele frequency- A:0.15WA CSA 121
rs1173079631,2
C,F--21996930(+) TTGAAG/ATCGCT 13 -- int11Minor allele frequency- A:0.01NA 120

HapMap Linkage Disequilibrium report for CDKN2B-AS1 (21994777 - 22121096 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for CDKN2B-AS1 (see all 12):    About this table    
Variant IDTypeSubtypePubMed ID
esv1998859CNV Deletion18987734
esv2738282CNV Deletion23290073
esv2589724CNV Deletion19546169
dgv1306e201CNV Deletion23290073
esv1002544CNV Insertion20482838
nsv416308CNV Loss16902084
nsv892746CNV Loss21882294
nsv8426CNV Loss18304495
nsv824877CNV Loss20364138
nsv892748CNV Loss21882294

Human Gene Mutation Database (HGMD): CDKN2B-AS1
Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing CDKN2B-AS1
DNA2.0 Custom Variant and Variant Library Synthesis for CDKN2B-AS1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 613149    OMIM disorders: --

Selected diseases for CDKN2B-AS1 (see all 29):    
About MalaCards
intracranial aneurysm    endometriosis    periodontitis    glaucoma
plexiform neurofibroma    neurofibroma    abdominal aortic aneurysm    gigantism
aortic aneurysm    prostate cancer    neurofibromatosis    primary open angle glaucoma
open-angle glaucoma    alzheimer's disease    cutaneous malignant melanoma    coronary artery disease
prostatitis    hypercholesterolemia    coronary heart disease    intrahepatic cholangiocarcinoma


CDKN2B-AS1 for disorders           About GeneDecksing


Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

Export disorders for CDKN2B-AS1 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for CDKN2B-AS1 gene, integrated from 10 sources (see all 79):
(articles sorted by number of sources associating them with CDKN2B-AS1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Long non-coding RNA ANRIL (CDKN2B-AS) is induced by the ATM-E2F1 signaling pathway. (PubMed id 23416462)1, 3 Wan G....Lu X. (Cell. Signal. 2013)
  2. Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1. (PubMed id 21532571)1, 3 Burdon K.P....Craig J.E. (Nat. Genet. 2011)
  3. Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked SNPs in the ANRIL locus on chromosome 9p. (PubMed id 18048406)1, 3 Broadbent H.M....Watkins H. (Hum. Mol. Genet. 2008)
  4. Characterization of a germ-line deletion, including the entire INK4/ARF locus, in a melanoma-neural system tumor family: identification of ANRIL, an antisense noncoding RNA whose expression coclusters with ARF. (PubMed id 17440112)1, 3 Pasmant E....BiA"che I. (Cancer Res. 2007)
  5. Regulation of CARD8 Expression by ANRIL and Association of CARD8 Single Nucleotide Polymorphism rs2043211 (p.C10X) With Ischemic Stroke. (PubMed id 24385277)1 Bai Y....Wang Q.K. ( a journal of cerebral circulation 2014)
  6. Genome-wide meta-analysis identifies new susceptibility loci for migraine. (PubMed id 23793025)1 Anttila V.... . (Nat. Genet. 2013)
  7. The large non-coding RNA ANRIL, which is associated with atherosclerosis, periodontitis and several forms of cancer, regulates ADIPOR1, VAMP3 and C11ORF10. (PubMed id 23813974)1 Bochenek G....Schaefer A.S. (Hum. Mol. Genet. 2013)
  8. Next-generation-sequencing-based risk stratification and identification of new genes involved in structural and sequence variations in near haploid lymphoblastic leukemia. (PubMed id 23508829)1 Chen C....Borkhardt A. (amp 2013)
  9. A genome-wide association study of a coronary artery disease risk variant. (PubMed id 23364394)1 Lee J.Y....Lee J.Y. (J. Hum. Genet. 2013)
  10. Genome-wide association study of coronary and aortic calcification implicates risk loci for coronary artery disease and myocardial infarction. (PubMed id 23561647)1 van Setten J....de Bakker P.I. (Atherosclerosis 2013)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 100048912 HGNC: 34341 Ensembl:ENSG00000240498 euGenes: HUgn100048912 ECgene: CDKN2B-AS1
H-InvDB: CDKN2B-AS1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for CDKN2B-AS1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for CDKN2B-AS1 gene:
Search GeneIP for patents involving CDKN2B-AS1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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