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Aliases for ATXN8 Gene

Aliases for ATXN8 Gene

  • Ataxin 8 2 3
  • Protein 1C2 3 4
  • ATXN3 3

External Ids for ATXN8 Gene

Summaries for ATXN8 Gene

Entrez Gene Summary for ATXN8 Gene

  • Spinocerebellar ataxia-8 (SCA8; {608768}) is a neurodegenerative disorder caused by a CTG/CAG trinucleotide repeat expansion on chromosome 13q21 (see {603680.0001} and {613289.0001}). Two genes span the CTG/CAG repeat and are expressed in opposite directions: ATXN8, which encodes a nearly pure polyglutamine expansion protein in the CAG direction, and ATXN8OS ({603680}), which, when transcribed, produces a noncoding CUG expansion RNA ({2:Moseley et al., 2006}).[supplied by OMIM, Mar 2010]

GeneCards Summary for ATXN8 Gene

ATXN8 (Ataxin 8) is a Protein Coding gene. Diseases associated with ATXN8 include spinocerebellar ataxia 8 and mitochondrial dna depletion syndrome 7. Among its related pathways are Akt Signaling and Protein processing in endoplasmic reticulum.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATXN8 Gene

Genomics for ATXN8 Gene

Genomic Location for ATXN8 Gene

Chromosome:
13
Orientation:
Unknown strand

Genomic View for ATXN8 Gene

Cytogenetic band:
GeneLoc Logo Gene Density

No data available for Regulatory Elements and RefSeq DNA sequence for ATXN8 Gene

Proteins for ATXN8 Gene

  • Protein details for ATXN8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q156A1-ATX8_HUMAN
    Recommended name:
    Ataxin-8
    Protein Accession:
    Q156A1

    Protein attributes for ATXN8 Gene

    Size:
    80 amino acids
    Molecular mass:
    10272 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • It is unknown whether this protein exists in non-SCA8 individuals

neXtProt entry for ATXN8 Gene

Proteomics data for ATXN8 Gene at MOPED

Post-translational modifications for ATXN8 Gene

No Post-translational modifications

No data available for DME Specific Peptides for ATXN8 Gene

Domains & Families for ATXN8 Gene

Gene Families for ATXN8 Gene

Protein Domains for ATXN8 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for ATXN8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ATXN8: view

No data available for UniProtKB/Swiss-Prot for ATXN8 Gene

Function for ATXN8 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ATXN8 Gene

Localization for ATXN8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATXN8 Gene

Nucleus. Note=Present in SCA8-specific 1C2-positive intranuclear inclusions.

Gene Ontology (GO) - Cellular Components for ATXN8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with ATXN8: view

No data available for Subcellular locations from COMPARTMENTS for ATXN8 Gene

Pathways & Interactions for ATXN8 Gene

genes like me logo Genes that share pathways with ATXN8: view

Pathways by source for ATXN8 Gene

Interacting Proteins for ATXN8 Gene

Gene Ontology (GO) - Biological Process for ATXN8 Gene

None

No data available for SIGNOR curated interactions for ATXN8 Gene

Drugs & Compounds for ATXN8 Gene

No Compound Related Data Available

Transcripts for ATXN8 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for ATXN8 Gene

No ASD Table

Relevant External Links for ATXN8 Gene

ECgene alternative splicing isoforms for
ATXN8

No data available for mRNA/cDNA for ATXN8 Gene

Expression for ATXN8 Gene

mRNA expression in normal human tissues for ATXN8 Gene

mRNA expression in normal human tissues for ATXN8 Gene

SOURCE GeneReport for Unigene cluster for ATXN8 Gene Hs.645205

mRNA Expression by UniProt/SwissProt for ATXN8 Gene

Q156A1-ATX8_HUMAN
Tissue specificity: Specifically found in brains from SCA8 patients (at protein level).
genes like me logo Genes that share expression patterns with ATXN8: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for ATXN8 Gene

Orthologs for ATXN8 Gene

No data available for Orthologs and Evolution for ATXN8 Gene

Paralogs for ATXN8 Gene

No data available for Paralogs for ATXN8 Gene

Variants for ATXN8 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ATXN8 Gene

Q156A1-ATX8_HUMAN
The length of the poly-Gln expansion is variable and may contain one or more interruptions that introduce arginines into the polyglutamine repeat tract

Relevant External Links for ATXN8 Gene

Human Gene Mutation Database (HGMD)
ATXN8

No data available for Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for ATXN8 Gene

Disorders for ATXN8 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ATXN8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia 8
  • spinocerebellar ataxia type 8
mitochondrial dna depletion syndrome 7
  • infantile onset spinocerebellar ataxia
- elite association
Search ATXN8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ATX8_HUMAN
  • Spinocerebellar ataxia 8 (SCA8) [MIM:608768]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA8 is an autosomal dominant cerebellar ataxia (ADCA). It is caused by expansion of a CAG repeat in ATXN8, which is translated into a nearly pure polyglutamine protein which forms 1C2-positive inclusions in Purkinje cells and other neurons. {ECO:0000269 PubMed:16804541}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ATXN8

Genetic Association Database (GAD)
ATXN8
Human Genome Epidemiology (HuGE) Navigator
ATXN8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATXN8
genes like me logo Genes that share disorders with ATXN8: view

No data available for Genatlas for ATXN8 Gene

Publications for ATXN8 Gene

  1. Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. (PMID: 16804541) Moseley M.L. … Ranum L.P.W. (Nat. Genet. 2006) 2 67
  2. Clinical and genetic features of spinocerebellar ataxia type 8. (PMID: 21827909) Ikeda Y. … Day J.W. (Handb Clin Neurol 2012) 67
  3. ATXN8 -62 G/A promoter polymorphism and risk of Taiwanese Parkinson's disease. (PMID: 22577844) Chen I.C. … Chen C.M. (Eur. J. Neurol. 2012) 67
  4. Genetic screening of Greek patients with Huntingtona89s disease phenocopies identifies an SCA8 expansion. (PMID: 22297462) Koutsis G. … Panas M. (J. Neurol. 2012) 67
  5. Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay. (PMID: 22053702) Tanaka E. … Kawakami H. (Hiroshima J. Med. Sci. 2011) 67

Products for ATXN8 Gene

Sources for ATXN8 Gene

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