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This gene is an antisense transcript to the KLHL1 gene (homolog to the Drosophila KELCH gene); it does not itself appear to be protein coding. A TAC/TGC trinucleotide repeat expansion that is incorporated into this gene transcript, but not the KLHL1 transcript, causes spinocerebellar ataxia type 8. Presumably the expansion interferes with normal antisense function of this trans... See more...
Aliases for ATXN8OS Gene
Subcategory (RNA class) for ATXN8OS Gene
lncRNA
Quality Score for this RNA gene is
16
Aliases for ATXN8OS Gene
External Ids for ATXN8OS Gene
- HGNC: 10561
- Entrez Gene: 6315
- Ensembl: ENSG00000230223
- OMIM: 603680
- UniProtKB: P0DMR3
Previous HGNC Symbols for ATXN8OS Gene
- SCA8
- KLHL1AS
Previous GeneCards Identifiers for ATXN8OS Gene
- GC13P069579
- GC13P070681
- GC13P051383
Summaries for ATXN8OS Gene
-
This gene is an antisense transcript to the KLHL1 gene (homolog to the Drosophila KELCH gene); it does not itself appear to be protein coding. A TAC/TGC trinucleotide repeat expansion that is incorporated into this gene transcript, but not the KLHL1 transcript, causes spinocerebellar ataxia type 8. Presumably the expansion interferes with normal antisense function of this transcript. [provided by RefSeq, Oct 2008]
GeneCards Summary for ATXN8OS Gene
ATXN8OS (ATXN8 Opposite Strand LncRNA) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with ATXN8OS include Spinocerebellar Ataxia 8 and Parkinson Disease, Late-Onset.
Additional gene information for ATXN8OS Gene
- Monarch Initiative
- Search for ATXN8OS at DataMed
- Search for ATXN8OS at HumanCyc
No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATXN8OS Gene
Genomics for ATXN8OS Gene
GeneHancer (GH) Regulatory Elements for ATXN8OS Gene
Promoters and enhancers for ATXN8OS Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH13J070108 | Promoter | 0.8 | EPDnew Ensembl | 762.7 | +1.4 | 1423 | 0.4 | POLR2A | ATXN8OS AF252280 KLHL1 5MWI_A-045 | |
| GH13J070248 | Enhancer | 0.8 | Ensembl ENCODE | 11.1 | +142.1 | 142081 | 1.7 | NR2F6 ELF3 TFE3 ZNF644 SOX13 SAP130 FOXA2 TEAD1 FOXP1 FOXA1 | HSALNG0097809 ATXN8OS KLHL1 RF00017-1443 | |
| GH13J070080 | Enhancer | 0.3 | Ensembl | 11.7 | -27.1 | -27077 | 0.2 | RCOR1 GATA3 | ATXN8OS KLHL1 LUC7L3P1 piR-38352-151 | |
| GH13J070088 | Enhancer | 0.2 | Ensembl | 6.9 | -18.3 | -18277 | 0.6 | ATXN8OS LUC7L3P1 KLHL1 piR-38352-151 | ||
| GH13J070097 | Enhancer | 0.2 | FANTOM5 | 0.4 | -9.9 | -9897 | 0.3 | ATXN8OS LUC7L3P1 KLHL1 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ATXN8OS on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ATXN8OS gene promoter:
-
- Nkx2-5
- TBP
- TFIID
Genomic Locations for ATXN8OS Gene
Genomic Locations for ATXN8OS Gene
- chr13:70,107,178-70,149,092
- (GRCh38/hg38)
- Size:
- 41,915 bases
- Orientation:
- Plus strand
- chr13:70,681,345-70,713,885
- (GRCh37/hg19)
- Size:
- 32,541 bases
- Orientation:
- Plus strand
Genomic View for ATXN8OS Gene
Genes around ATXN8OS on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 13q21.33 by HGNC
- 13q21.33 by Entrez Gene
- 13q21.33 by Ensembl
ATXN8OS 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 ATXN8OS Gene
Proteins for ATXN8OS Gene
-
Protein details for ATXN8OS Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P0DMR3-AT8OS_HUMAN
- Recommended name:
- Putative protein ATXN8OS
- Protein Accession:
- P0DMR3
Protein attributes for ATXN8OS Gene
- Size:
- 200 amino acids
- Molecular mass:
- 22759 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for ATXN8OS Gene
No Post-translational modifications
Antibody Products
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ATXN8OS
- Origene Custom Protein Services for ATXN8OS
No data available for DME Specific Peptides for ATXN8OS Gene
Domains & Families for ATXN8OS Gene
Gene Families for ATXN8OS Gene
Protein Domains for ATXN8OS Gene
- ProtoNet:
No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ATXN8OS Gene
Function for ATXN8OS Gene
Phenotypes From GWAS Catalog for ATXN8OS Gene
Phenotypes for ATXN8OS Gene
- GenomeRNAi human phenotypes for ATXN8OS:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Browse CRISPR knockouts for ATXN8OS
- genomics-online: gRNA clones - Search results for available ATXN8OS gene related products
- Applied Biological Materials (abm): CRISPR Clones for ATXN8OS - Select products 50% OFF >
- * ATXN8OS CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * ATXN8OS CRISPR applications: KO, Activation, Repression, and more - Browse All
miRNA Products
Inhibitory RNA Products
- genomics-online: shRNA clones - Search results for available ATXN8OS gene related products
Clone Products
- genomics-online: cdna clones - Search results for available ATXN8OS gene related products
- orf clones - Search results for available ATXN8OS gene related products
- Applied Biological Materials (abm): Clones for ATXN8OS - Select products 50% OFF >
- * ATXN8OS as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * ATXN8OS tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ATXN8OS Gene
Localization for ATXN8OS Gene
Subcellular locations from UniProtKB/Swiss-Prot for ATXN8OS Gene
- Cytoplasm.
No data available for Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for ATXN8OS Gene
Transcripts for ATXN8OS Gene
mRNA/cDNA for ATXN8OS Gene
- (1) REFSEQ mRNAs :
- (1) Additional mRNA sequences :
- (4) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000414504 1148 bps (ENST00000414504.6)
- ENST00000424524 1752 bps (ENST00000424524.1)
- ENST00000665905 1916 bps
- ENST00000660386 2188 bps
- (8) RNACentral transcripts :
- (5) LncBook transcripts :
- (5) NONCODE transcripts :
- (1) ENA transcripts :
- (2) LNCipedia transcripts :
CRISPR Products
- Browse CRISPR knockouts for ATXN8OS
- genomics-online: gRNA clones - Search results for available ATXN8OS gene related products
- Applied Biological Materials (abm): CRISPR Clones for ATXN8OS - Select products 50% OFF >
- * ATXN8OS CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * ATXN8OS CRISPR applications: KO, Activation, Repression, and more - Browse All
miRNA Products
Inhibitory RNA Products
- genomics-online: shRNA clones - Search results for available ATXN8OS gene related products
Clone Products
- genomics-online: cdna clones - Search results for available ATXN8OS gene related products
- orf clones - Search results for available ATXN8OS gene related products
- Applied Biological Materials (abm): Clones for ATXN8OS - Select products 50% OFF >
- * ATXN8OS as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * ATXN8OS tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Expression for ATXN8OS Gene
mRNA differential expression in normal tissues according to GTEx for ATXN8OS Gene
This gene is overexpressed in Brain - Substantia nigra (x19.5) and Brain - Hypothalamus (x10.0).
NURSA nuclear receptor signaling pathways regulating expression of ATXN8OS Gene:
ATXN8OSSOURCE GeneReport for Unigene cluster for ATXN8OS Gene:
Hs.676453mRNA Expression by UniProt/SwissProt for ATXN8OS Gene:
P0DMR3-AT8OS_HUMAN
Tissue specificity:
Expressed in brain (PubMed:10192387). Expressed in muscle tissues (at protein level).
Phenotype-based relationships between genes and organs from Gene ORGANizer for ATXN8OS Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- nervous
- skeletal muscle
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- eye
- head
- mouth
- pharynx
Thorax:
- esophagus
Abdomen:
- stomach
General:
- peripheral nerve
- peripheral nervous system
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for ATXN8OS
- genomics-online: primer clones - Search results for available ATXN8OS gene related 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 and Evidence on tissue expression from TISSUES for ATXN8OS Gene
Orthologs for ATXN8OS Gene
No data available for Orthologs for ATXN8OS Gene
Paralogs for ATXN8OS Gene
No data available for Paralogs for ATXN8OS Gene
Variants for ATXN8OS Gene
| SNP ID | Clin | Chr 13 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000163239 | -- | 70,128,239(+) | A/G | intron_variant | |
| rs1000206654 | -- | 70,110,732(+) | A/C | intron_variant | |
| rs1000251497 | -- | 70,125,408(+) | C/T | intron_variant | |
| rs1000257546 | -- | 70,110,998(+) | A/T | intron_variant | |
| rs1000308972 | -- | 70,140,197(+) | A/T | downstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1051815 | CNV | gain | 25217958 |
| nsv1053979 | CNV | loss | 25217958 |
| nsv1122840 | CNV | deletion | 24896259 |
| nsv455967 | CNV | loss | 19166990 |
| nsv562220 | CNV | loss | 21841781 |
| nsv562221 | CNV | loss | 21841781 |
| nsv562222 | CNV | loss | 21841781 |
Additional Variant Information for ATXN8OS Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for ATXN8OS Gene
Disorders for ATXN8OS Gene
(6) MalaCards diseases for ATXN8OS Gene - From: HGMD, LncRNADisease, OMIM, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spinocerebellar ataxia 8 |
|
|
| parkinson disease, late-onset |
|
|
| autosomal dominant cerebellar ataxia |
|
|
| spinocerebellar ataxia 12 |
|
|
| friedreich ataxia 1 |
|
Search ATXN8OS in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ATXN8OS
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for ATXN8OS Gene
Publications for ATXN8OS Gene
- Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia. (PMID: 19235102) Rajkiewicz M … Zaremba J (Neurologia i neurochirurgia polska 2008) 3 23 43 56
- Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group. (PMID: 14960773) Sułek A … Zaremba J (Journal of applied genetics 2004) 3 23 43 56
- Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions. (PMID: 12140678) Brusco A … Orsi L (Journal of neurology 2002) 3 23 43 56
- An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) (PMID: 10192387) Koob MD … Ranum LP (Nature genetics 1999) 2 3 4 56
- Internal ribosome entry segment activity of ATXN8 opposite strand RNA. (PMID: 24040107) Chen IC … Lee-Chen GJ (PloS one 2013) 3 4 56
ExternalLinks
Products for ATXN8OS Gene
- Browse OriGene Antibodies
- Custom Antibody Services
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- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ATXN8OS
- Origene Custom Protein Services for ATXN8OS
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- OriGene qPCR primer pairs for ATXN8OS
- Browse CRISPR knockouts for ATXN8OS
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ATXN8OS
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Recombinant Proteins
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- Browse Sino Biological Assays
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- genomics-online: cdna clones - Search results for available ATXN8OS gene related products
- orf clones - Search results for available ATXN8OS gene related products
- genomics-online: gRNA clones - Search results for available ATXN8OS gene related products
- genomics-online: primer clones - Search results for available ATXN8OS gene related products
- genomics-online: shRNA clones - Search results for available ATXN8OS gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for knockout CRISPR/Cas9 clones, lentivirus, and/or AAV products for ATXN8OS
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- Search GeneCopoeia for miRNA 3'UTR Target clone products for ATXN8OS
- Search GeneCopoeia for shRNA, lentivirus, and/or AAV clone products for ATXN8OS
Sources for ATXN8OS 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
- (117) NINDS
- (118) NCBI Bookshelf
- (119) ClinVar
- (120) Gene Damage Index
- (121) HPO
- (122) UDN
- (123) VISTA
- (124) FANTOM5
- (125) ENCODE
- (126) ProSci
- (127) Horizon
- (128) NURSA
- (129) IID
- (130) VectorBuilder
- (131) SNPedia
- (132) BRCA Exchange
- (133) CIViC
- (134) ProteoGenix
- (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
- (171) LncRNAdb
- (172) Modomics
- (173) PDBe
- (174) Rfam
- (175) SILVA
- (176) snOPY
- (177) SRPDB
- (178) GENCODE
- (179) TarBase
- (180) MyBioSource