Aliases for CDKN2B-AS1 Gene
Subcategory (RNA class) for CDKN2B-AS1 Gene
non-coding RNA
Quality Score for this RNA gene is
13
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 non-coding RNA class. Diseases associated with CDKN2B-AS1 include Intracranial Aneurysm and Periodontitis.
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 , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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
Regulatory Element Products
Genomic Locations for CDKN2B-AS1 Gene
Genomic Locations for CDKN2B-AS1 Gene
- chr9:21,994,778-22,121,097
- (GRCh38/hg38)
- Size:
- 126,320 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 Entrez Gene
- 9p21.3 by HGNC
- 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
- Search GeneTex for Antibodies for CDKN2B-AS1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CDKN2B-AS1
- Origene Custom Protein Services for CDKN2B-AS1
- Search GeneTex for Proteins 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
Graphical View of Domain Structure for InterPro Entry
No data available for Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for CDKN2B-AS1 Gene
Function for CDKN2B-AS1 Gene
Phenotypes From GWAS Catalog for CDKN2B-AS1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CDKN2B-AS1
-
CRISPR Products
- Browse CRISPR knockouts for CDKN2B-AS1
- Applied Biological Materials CRISPR for CDKN2B-AS1
-
Vectors and viruses for KO, Activation, Repression, and more
miRNA Products
Inhibitory RNA Products
Clone Products
- GenScript: Custom all cDNA clones Services for CDKN2B-AS1
- Applied Biological Materials Clones for CDKN2B-AS1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CDKN2B-AS1 Gene
Localization for CDKN2B-AS1 Gene
| Compartment | Confidence |
|---|---|
| nucleus | 2 |
| extracellular | 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
Drugs & Compounds for CDKN2B-AS1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Antiinflammatory agents, non-steroids | Pharma | 0 |
Drug Products
Transcripts for CDKN2B-AS1 Gene
mRNA/cDNA for CDKN2B-AS1 Gene
- (18) Additional mRNA sequences :
- (21) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000468603 631 bps (uc064skl.1)
- ENST00000584351 2660 bps (uc010miw.1)
- ENST00000583719 856 bps (uc022bef.1)
- ENST00000580467 1260 bps (uc022bed.1)
- ENST00000585267 1337 bps (uc022bel.2)
- (28) RNA Central transcripts :
Unigene Clusters for CDKN2B-AS1 Gene
CRISPR Products
- Browse CRISPR knockouts for CDKN2B-AS1
- Applied Biological Materials CRISPR for CDKN2B-AS1
-
Vectors and viruses for KO, Activation, Repression, and more
miRNA Products
Inhibitory RNA Products
Clone Products
- GenScript: Custom all cDNA clones Services for CDKN2B-AS1
- Applied Biological Materials Clones for CDKN2B-AS1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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 |
|
|
| aortic aneurysm |
|
|
| 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 58
- 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 58
- 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 58
- 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 58
- Knockdown of LncRNA ANRIL suppresses cell proliferation, metastasis, and invasion via regulating miR-122-5p expression in hepatocellular carcinoma. (PMID: 29127494) Ma J … Yuan H (Journal of cancer research and clinical oncology 2018) 3 58
Products for CDKN2B-AS1 Gene
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Sources for CDKN2B-AS1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
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- (14) ProtoNet
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- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
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- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
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- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
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- (104) GeneTex
- (105) Taconic Biosciences
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- (150) Human Protein Atlas
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- (153) DataMed
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- (163) RNACentral
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- (166) miR2Disease
- (167) DiseaseEnhancer
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- (169) Biorbyt