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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 num... See more...
Aliases for CDKN2B-AS1 Gene
Subcategory (RNA class) for CDKN2B-AS1 Gene
lncRNA
Quality Score for this RNA gene is
17
Aliases for CDKN2B-AS1 Gene
External Ids for CDKN2B-AS1 Gene
- HGNC: 34341
- Entrez Gene: 100048912
- Ensembl: ENSG00000240498
- OMIM: 613149
Previous HGNC Symbols for CDKN2B-AS1 Gene
- CDKN2BAS
Summaries for CDKN2B-AS1 Gene
-
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]
GeneCards Summary for CDKN2B-AS1 Gene
CDKN2B-AS1 (CDKN2B Antisense RNA 1) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with CDKN2B-AS1 include Intracranial Aneurysm and Periodontitis.
Rfam classification for CDKN2B-AS1 Gene
Additional gene information for CDKN2B-AS1 Gene
- Monarch Initiative
- Search for CDKN2B-AS1 at DataMed
- Search for CDKN2B-AS1 at HumanCyc
No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary and piRNA Summary for CDKN2B-AS1 Gene
Genomics for CDKN2B-AS1 Gene
GeneHancer (GH) Regulatory Elements for CDKN2B-AS1 Gene
Promoters and enhancers for CDKN2B-AS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CDKN2B-AS1 on UCSC Golden Path with GeneCards custom track
Genomic Locations for CDKN2B-AS1 Gene
Genomic Locations for CDKN2B-AS1 Gene
- chr9:21,994,139-22,239,122
- (GRCh38/hg38)
- Size:
- 244,984 bases
- Orientation:
- Plus strand
- chr9:21,994,777-22,121,096
- (GRCh37/hg19)
- Size:
- 126,320 bases
- Orientation:
- Plus strand
Genomic View for CDKN2B-AS1 Gene
Genes around CDKN2B-AS1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 9p21.3 by HGNC
- 9p21.3 by Entrez Gene
- 9p21.3 by Ensembl
CDKN2B-AS1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CDKN2B-AS1 Gene
Proteins for CDKN2B-AS1 Gene
Post-translational modifications for CDKN2B-AS1 Gene
No Post-translational modifications
Antibody Products
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CDKN2B-AS1
- Origene Custom Protein Services for CDKN2B-AS1
No data available for DME Specific Peptides for CDKN2B-AS1 Gene
Domains & Families for CDKN2B-AS1 Gene
Gene Families for CDKN2B-AS1 Gene
No data available for Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CDKN2B-AS1 Gene
Function for CDKN2B-AS1 Gene
Phenotypes From GWAS Catalog for CDKN2B-AS1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IEA | -- |
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Browse CRISPR knockouts for CDKN2B-AS1
- Applied Biological Materials (abm): CRISPR Clones for CDKN2B-AS1 - Select products 50% OFF >
- * CDKN2B-AS1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * CDKN2B-AS1 CRISPR applications: KO, Activation, Repression, and more - Browse All
miRNA Products
Inhibitory RNA Products
Clone Products
- Applied Biological Materials (abm): Clones for CDKN2B-AS1 - Select products 50% OFF >
- * CDKN2B-AS1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * CDKN2B-AS1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CDKN2B-AS1 Gene
Localization for CDKN2B-AS1 Gene
| Compartment | Confidence |
|---|---|
| extracellular | 1 |
| nucleus | 1 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for CDKN2B-AS1 Gene
Pathways & Interactions for CDKN2B-AS1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006342 | chromatin silencing | IEA | -- |
| GO:0010628 | positive regulation of gene expression | IMP | 28344092 |
| GO:0010629 | negative regulation of gene expression | IMP | 28344092 |
| GO:0030335 | positive regulation of cell migration | IMP | 28344092 |
No data available for Pathways by source and SIGNOR curated interactions for CDKN2B-AS1 Gene
Drugs & Compounds for CDKN2B-AS1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Antiinflammatory agents, non-steroids | Pharma | 0 |
Transcripts for CDKN2B-AS1 Gene
mRNA/cDNA for CDKN2B-AS1 Gene
- (14) REFSEQ mRNAs :
- (19) Additional mRNA sequences :
- (28) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000468603 2359 bps (ENST00000468603.6)
- ENST00000651588 3573 bps
- ENST00000652420 7173 bps
- ENST00000584351 2660 bps (ENST00000584351.5)
- ENST00000583719 856 bps (ENST00000583719.5)
- (104) RNACentral transcripts :
- (73) LNCipedia transcripts :
- (28) LncBook transcripts :
- (22) NONCODE transcripts :
- (12) ENA transcripts :
CRISPR Products
- Browse CRISPR knockouts for CDKN2B-AS1
- Applied Biological Materials (abm): CRISPR Clones for CDKN2B-AS1 - Select products 50% OFF >
- * CDKN2B-AS1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * CDKN2B-AS1 CRISPR applications: KO, Activation, Repression, and more - Browse All
miRNA Products
Inhibitory RNA Products
Clone Products
- Applied Biological Materials (abm): Clones for CDKN2B-AS1 - Select products 50% OFF >
- * CDKN2B-AS1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * CDKN2B-AS1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Relevant External Links for CDKN2B-AS1 Gene
- GeneLoc Exon Structure for
- CDKN2B-AS1
- ECgene alternative splicing isoforms for
- CDKN2B-AS1
Expression for CDKN2B-AS1 Gene
mRNA differential expression in normal tissues according to GTEx for CDKN2B-AS1 Gene
This gene is overexpressed in Colon - Transverse (x23.6), Small Intestine - Terminal Ileum (x9.8), and Pituitary (x4.0).
SOURCE GeneReport for Unigene cluster for CDKN2B-AS1 Gene:
Hs.493614Primer Products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CDKN2B-AS1 Gene
Orthologs for CDKN2B-AS1 Gene
No data available for Orthologs for CDKN2B-AS1 Gene
Paralogs for CDKN2B-AS1 Gene
No data available for Paralogs for CDKN2B-AS1 Gene
Variants for CDKN2B-AS1 Gene
| SNP ID | Clin | Chr 09 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1014358179 | likely-benign, uncertain-significance, Hereditary cutaneous melanoma, Hereditary cancer-predisposing syndrome | 21,994,180(+) | C/G | upstream_transcript_variant | |
| rs1057517575 | uncertain-significance, Melanoma-pancreatic cancer syndrome | 21,994,253(+) | T/G | upstream_transcript_variant | |
| rs1057517601 | uncertain-significance, Melanoma-pancreatic cancer syndrome, Hereditary cutaneous melanoma | 21,994,270(+) | C/T | upstream_transcript_variant | |
| rs1057517639 | uncertain-significance, Melanoma-pancreatic cancer syndrome | 21,994,364(+) | C/T | upstream_transcript_variant | |
| rs1060501262 | pathogenic, Hereditary cutaneous melanoma, not provided | 21,994,138(+) | C/T | upstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1254e201 | CNV | deletion | 23290073 |
| dgv3966n106 | CNV | deletion | 24896259 |
| esv1002544 | CNV | insertion | 20482838 |
| esv1998859 | CNV | deletion | 18987734 |
| esv2589724 | CNV | deletion | 19546169 |
| esv2738282 | CNV | deletion | 23290073 |
| esv2764150 | CNV | gain+loss | 21179565 |
| esv3619975 | CNV | loss | 21293372 |
| nsv1018514 | CNV | gain | 25217958 |
| nsv1029889 | CNV | loss | 25217958 |
| nsv1135729 | CNV | deletion | 24896259 |
| nsv1143377 | CNV | deletion | 24896259 |
| nsv1146629 | CNV | deletion | 26484159 |
| nsv1150074 | CNV | deletion | 26484159 |
| nsv416308 | CNV | deletion | 16902084 |
| nsv613760 | CNV | loss | 21841781 |
| nsv824877 | CNV | loss | 20364138 |
| nsv8426 | CNV | loss | 18304495 |
| nsv956142 | CNV | deletion | 24416366 |
Additional Variant Information for CDKN2B-AS1 Gene
- Human Gene Mutation Database (HGMD)
- CDKN2B-AS1
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- CDKN2B-AS1
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for CDKN2B-AS1 Gene
Disorders for CDKN2B-AS1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| intracranial aneurysm |
|
|
| periodontitis |
|
|
| endometriosis |
|
|
| plexiform neurofibroma |
|
|
| atherosclerosis susceptibility |
|
Search CDKN2B-AS1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for CDKN2B-AS1
No data available for UniProtKB/Swiss-Prot and Genatlas for CDKN2B-AS1 Gene
Publications for CDKN2B-AS1 Gene
- Long non-coding RNA ANRIL (CDKN2B-AS) is induced by the ATM-E2F1 signaling pathway. (PMID: 23416462) Wan G … Lu X (Cellular signalling 2013) 2 3 56
- Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1. (PMID: 21532571) Burdon KP … Craig JE (Nature genetics 2011) 2 3 56
- Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked SNPs in the ANRIL locus on chromosome 9p. (PMID: 18048406) Broadbent HM … PROCARDIS consortium (Human molecular genetics 2008) 2 3 56
- 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. (PMID: 17440112) Pasmant E … Bièche I (Cancer research 2007) 2 3 56
- LncRNA ANRIL promotes NLRP3 inflammasome activation in uric acid nephropathy through miR-122-5p/BRCC3 axis. (PMID: 30347231) Hu J … Dong J (Biochimie 2019) 3 56
Products for CDKN2B-AS1 Gene
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Sources for CDKN2B-AS1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51) IMGT
- (52) Leiden
- (53) miRBase
- (54) DME
- (55) OriGene
- (56) PubMed
- (57) R&D Systems
- (58) TGDB
- (59) Tocris
- (60) Abcam
- (61) Novus Biologicals
- (62) ProSpec
- (63) Sino Biological
- (64) GenScript
- (65) Qiagen
- (66) OCA
- (67) Proteopedia
- (68) MOPED
- (69) neXtProt
- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
- (79) BitterDB
- (80) ESI-BIO
- (81) RefSeq
- (82) BioSystems
- (83) MaxQB
- (84) IUPHAR
- (85) BioGPS
- (86) Illumina
- (87) COMPARTMENTS
- (88) HOMER
- (89) PaxDb
- (90) ApexBio
- (91) Addgene
- (92) antibodies-online
- (93) CYP
- (94) NONCODE
- (95) TreeFam
- (96) PathCards
- (97) GeneReviews
- (98) GeneTex
- (99) Taconic Biosciences
- (100) GTEx
- (101) ProteomicsDB
- (102) SCBT
- (103) DGIdb
- (104) ClinicalTrials
- (105) RVIS
- (106) SIGNOR
- (107) diseasecard
- (108) NIH Rare Diseases
- (109) Orphanet
- (110) UMLS
- (111) GTR
- (112) Disease Ontology
- (113) Genetics Home Reference
- (114) MeSH
- (115) MedlinePlus
- (116) CDC
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- (118) NCBI Bookshelf
- (119) ClinVar
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- (135) dbSUPER
- (136) TISSUES
- (137) Gene ORGANizer
- (138) abm
- (139) Human Protein Atlas
- (140) GWAS Catalog
- (141) Monarch Initiative
- (142) DataMed
- (143) HumanCyc
- (144) genomics-online
- (145) UCNEbase
- (146) EPDnew
- (147) Applied Biosystems
- (148) GlyConnect
- (149) Aminode
- (150) GeneCopoeia
- (151) GPS-Prot
- (152) RNACentral
- (153) LncRNADisease
- (154) LOVD
- (155) miR2Disease
- (156) DiseaseEnhancer
- (157) Boster Bio
- (158) Biorbyt
- (159) Biocompare
- (160) Mastermind
- (161) CTD^2 Dashboard
- (162) CraniofacialAtlas
- (163) GeneImprint
- (164) Synthego
- (165) Bio Basic
- (166) ENA
- (167) GtRNAdb
- (168) LncBase
- (169) LncBook
- (170) LNCipedia
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- (177) SRPDB
- (178) GENCODE
- (179) TarBase
- (180) MyBioSource