Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ATXN8OS Gene

Subcategory (RNA class) for ATXN8OS Gene


Quality Score for this RNA gene is


Aliases for ATXN8OS Gene

  • ATXN8 Opposite Strand (Non-Protein Coding) 2 3 5
  • Non-Protein Coding RNA 3 2 3
  • Spinocerebellar Ataxia 8 2 4
  • Kelch-Like 1 Antisense 3 4
  • KLHL1AS 3 4
  • SCA8 3 4
  • Kelch-Like 1 Antisense (Drosophila) 2
  • Ataxin 8 Opposite Strand 3
  • ATXN8 Opposite Strand 4
  • NCRNA00003 3

External Ids for ATXN8OS Gene

ORGUL Members 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 (Non-Protein Coding)) is an RNA Gene, and is affiliated with the antisense RNA class. Diseases associated with ATXN8OS include Spinocerebellar Ataxia 8 and Mitochondrial Dna Depletion Syndrome 7.

Gene Wiki entry for ATXN8OS Gene

fRNAdb sequence ontologies for ATXN8OS Gene

  • nc_conserved_region: Non-coding region of sequence similarity by descent from a common ancestor.

View fRNAdb secondary structures for ATXN8OS

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary and piRNA Summary for ATXN8OS Gene

Genomics for ATXN8OS Gene

Regulatory Elements for ATXN8OS Gene

Enhancers for ATXN8OS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13F070248 0.6 ENCODE 11.1 +142.3 142286 1.2 SOX13 ELF3 ZNF792 SAP130 ZNF644 RARA NR2F6 FOS SOX5 TFE3 ATXN8OS KLHL1 GC13P070460
GH13F070097 0.6 FANTOM5 0.4 -9.9 -9932 0.3 ATXN8OS LUC7L3P1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ATXN8OS on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the ATXN8OS gene promoter:

Genomic Location for ATXN8OS Gene

70,107,213 bp from pter
70,139,753 bp from pter
32,541 bases
Plus strand

Genomic View for ATXN8OS Gene

Genes around ATXN8OS on UCSC Golden Path with GeneCards custom track

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

ORGUL Member Location for ATXN8OS Gene

ORGUL Member Location 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


Graphical View of Domain Structure for InterPro Entry

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

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for ATXN8OS Gene

Function for ATXN8OS Gene

Phenotypes for ATXN8OS Gene

GenomeRNAi human phenotypes for ATXN8OS:
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

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


No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for ATXN8OS Gene

Pathways & Interactions for ATXN8OS Gene

SuperPathways for ATXN8OS Gene

No Data Available

Interacting Proteins for ATXN8OS Gene

Gene Ontology (GO) - Biological Process for ATXN8OS Gene


No data available for Pathways by source and SIGNOR curated interactions for ATXN8OS Gene

Transcripts for ATXN8OS Gene

fRNAdb Secondary structures for ATXN8OS Gene

  • FR160065

mRNA/cDNA for ATXN8OS Gene

(1) Additional mRNA sequences :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ATXN8OS Gene

ATXN8 opposite strand (non-protein coding):
Representative Sequences:

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

No ASD Table

Relevant External Links for ATXN8OS Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms 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).

NURSA nuclear receptor signaling pathways regulating expression of ATXN8OS Gene:


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).
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 and Protein tissue co-expression partners 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 from dbSNP and Humsavar for ATXN8OS Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs1025822 -- 70,112,654(+) ATTTG(A/G)CCTTT intron-variant
rs1025823 -- 70,112,851(+) GAACA(C/T)TCATT intron-variant
rs1025840 -- 70,113,327(+) ATATA(C/T)ATTTA intron-variant
rs10507779 -- 70,122,385(+) TACGA(A/T)TTAAC intron-variant
rs10507780 -- 70,123,338(+) AAGTA(C/G)AGCAA intron-variant

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

Relevant External Links 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

(6) MalaCards diseases for ATXN8OS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia 8
  • spinocerebellar ataxia type 8
mitochondrial dna depletion syndrome 7
  • spinocerebellar ataxia 8
parkinson disease, late-onset
  • parkinson disease
spinocerebellar ataxia 12
  • spinocerebellar ataxia type 12
spinocerebellar ataxia 1
  • spinocerebellar ataxia type 1
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ATXN8OS

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Neurol. Neurochir. Pol. 2008) 3 22 46 64
  2. Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group. (PMID: 14960773) SuA8ek A. … Zaremba J. (J. Appl. Genet. 2004) 3 22 46 64
  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. (J. Neurol. 2002) 3 22 46 64
  4. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) (PMID: 10192387) Koob M.D. … Ranum L.P. (Nat. Genet. 1999) 2 3 4 64
  5. Internal ribosome entry segment activity of ATXN8 opposite strand RNA. (PMID: 24040107) Chen I.C. … Lee-Chen G.J. (PLoS ONE 2013) 3 4 64

Products for ATXN8OS Gene

Sources for ATXN8OS Gene

Loading form....