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


Number of RNA Genes sources:

5 / 17

Aliases for ATXN8OS Gene

  • ATXN8 Opposite Strand LncRNA 2 3 5
  • ATXN8OS 2 5 165
  • ATXN8 Opposite Strand (Non-Protein Coding) 2 3
  • Non-Protein Coding RNA 3 2 3
  • Spinocerebellar Ataxia 8 2 4
  • Kelch-Like 1 Antisense 3 4
  • NCRNA00003 2 3
  • KLHL1AS 3 4
  • SCA8 3 4
  • Kelch-Like 1 Antisense (Drosophila) 2
  • Ataxin 8 Opposite Strand 3
  • Putative Protein ATXN8OS 4
  • ATXN8 Opposite Strand 4
  • NONHSAG013730.2 91
  • HSALNG0097806 164
  • 5MWI_A 167

External Ids for ATXN8OS Gene

Previous HGNC Symbols for ATXN8OS Gene

  • SCA8

Previous GeneCards Identifiers for ATXN8OS Gene

  • GC13P069579
  • GC13P070681
  • GC13P051383

Summaries for ATXN8OS Gene

Entrez Gene Summary 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. Among its related pathways are Spinocerebellar ataxia.

Gene Wiki entry for ATXN8OS Gene

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 Pubs

Promoters and enhancers for ATXN8OS Gene
GeneHancer (GH) Identifier GH Type GH
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 612.7 +1.4 1423 0.4 POLR2A EZH2 ATXN8OS KLHL1 ENSG00000288330
GH13J070248 Enhancer 0.9 Ensembl ENCODE 11.1 +142.1 142081 1.7 TFE3 GABPA SOX13 FOXA2 TEAD1 FOXP1 SAP130 GABPB1 FOXA1 FOSL2 HSALNG0097809 KLHL1 ATXN8OS RF00017-1443
GH13J070080 Enhancer 0.4 Ensembl 11.7 -27.1 -27077 0.2 FOXA1 GATA3 RCOR1 ATXN8OS KLHL1 LUC7L3P1 piR-38352-151
GH13J070088 Enhancer 0.2 Ensembl 6.9 -18.3 -18277 0.6 ATXN8OS LUC7L3P1 KLHL1 piR-38352-151
GH13J070125 Enhancer 0.3 Ensembl 0.4 +18.6 18623 0.4 CTCF ENSG00000288330 KLHL1 ATXN8OS
- 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 the GeneHancer Hub at the UCSC Golden Path

Top Transcription factor binding sites by QIAGEN in the ATXN8OS gene promoter:
  • Nkx2-5
  • TBP

Genomic Locations for ATXN8OS Gene

Genomic Locations for ATXN8OS Gene
41,915 bases
Plus strand
32,541 bases
Plus strand

Genomic View for ATXN8OS Gene

Genes around ATXN8OS on UCSC Golden Path with GeneCards custom track
ATXN8OS in the GeneCards ncRNA compendium hub on the UCSC Golden Path

Cytogenetic band:
ATXN8OS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATXN8OS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATXN8OS Gene

Proteins for ATXN8OS Gene

  • Protein details for ATXN8OS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Putative protein ATXN8OS
    Protein Accession:

    Protein attributes for ATXN8OS Gene

    200 amino acids
    Molecular mass:
    22759 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ATXN8OS Gene

Post-translational modifications for ATXN8OS Gene

No Post-translational modifications

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

genes like me logo Genes that share domains with ATXN8OS: view

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

genes like me logo Genes that share phenotypes with ATXN8OS: view

Human Phenotype Ontology for ATXN8OS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

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


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATXN8OS gene
Compartment Confidence
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
lysosome 1

No data available for Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for ATXN8OS Gene

Pathways & Interactions for ATXN8OS Gene

PathCards logo

SuperPathways for ATXN8OS Gene

SuperPathway Contained pathways
1 Spinocerebellar ataxia
genes like me logo Genes that share pathways with ATXN8OS: view

Pathways by source for ATXN8OS Gene

1 KEGG pathway for ATXN8OS Gene

Gene Ontology (GO) - Biological Process for ATXN8OS Gene


No data available for Interacting Proteins and SIGNOR curated interactions for ATXN8OS Gene

Drugs & Compounds for ATXN8OS Gene

No Compound Related Data Available

Transcripts for ATXN8OS Gene

Non-coding RNA (ncRNA) Transcripts from RNAcentral for ATXN8OS Gene

RNAcentral Transcript ID Subcategory Length (nts) # of Sources Source Identifiers and Annotations
URS000075CA79_9606 lncRNA 1472 4

HGNC: 10561,

RefSeq: NR_002717,

LncBook: HSALNT0203415,


URS00000CCBAD_9606 lncRNA 1148 2

Ensembl: ENST00000414504 (view in UCSC) ,

LncBook: HSALNT0203416,

URS0000EF4853_9606 lncRNA 2188 1

Ensembl: ENST00000660386 (view in UCSC) ,

URS0000EF72CC_9606 lncRNA 1916 1

Ensembl: ENST00000665905 (view in UCSC) ,

URS0000EEDBEF_9606 lncRNA 1752 1

Ensembl: ENST00000424524 (view in UCSC) ,

ATXN8OS in the GeneCards ncRNA compendium hub on the UCSC Golden Path

Additional transcripts not in RNAcentral for ATXN8OS Gene

1 NCBI additional mRNA sequence :

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATXN8OS Gene

No ASD Table

Relevant External Links for ATXN8OS Gene

GeneLoc Exon Structure for

Expression for ATXN8OS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATXN8OS

SOURCE GeneReport for Unigene cluster for ATXN8OS Gene:


mRNA Expression by UniProt/SwissProt for ATXN8OS Gene:

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
  • digestive
  • nervous
  • skeletal muscle
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
  • mouth
  • pharynx
  • esophagus
  • stomach
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with ATXN8OS: view

Primer 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

Evolution for ATXN8OS Gene

Gene Tree for ATXN8OS (if available)
Gene Tree for ATXN8OS (if available)

No data available for Orthologs for ATXN8OS Gene

Paralogs for ATXN8OS Gene

No data available for Paralogs for ATXN8OS Gene

Variants for ATXN8OS Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATXN8OS Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
790680 Benign: not provided 70,107,328(+) T/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ATXN8OS Gene

Structural Variations from Database of Genomic Variants (DGV) for ATXN8OS Gene

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

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for ATXN8OS Gene

Disorders for ATXN8OS Gene

MalaCards: The human disease database

(33) MalaCards diseases for ATXN8OS Gene - From: LncRNADisease, OMIM, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATXN8OS

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ATXN8OS: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATXN8OS Gene

Publications for ATXN8OS Gene

  1. 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 41
  2. 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 41
  3. 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 41
  4. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) (PMID: 10192387) Koob MD … Ranum LP (Nature genetics 1999) 2 3 4
  5. Internal ribosome entry segment activity of ATXN8 opposite strand RNA. (PMID: 24040107) Chen IC … Lee-Chen GJ (PloS one 2013) 3 4

Products for ATXN8OS Gene

Sources for ATXN8OS Gene