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ATXN8 Gene

protein-coding   GIFtS: 23
GCID: GC13U900338

Ataxin 8

  See ATXN8-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ataxin 81 2
Protein 1C22 3
ATXN32
ataxin-82

External Ids:    HGNC: 329251   Entrez Gene: 7240662   OMIM: 6132895   UniProtKB: Q156A13   

Export aliases for ATXN8 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 type 8, and infantile onset spinocerebellar ataxia.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for ATXN8
         Other transcription factors

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Epigenetics:
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Genomic Location:
Chromosome:13   

Entrez Gene cytogenetic band: 13q21   HGNC cytogenetic band: 13q21.33

GeneLoc information about chromosome 13        


(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
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UniProtKB/Swiss-Prot: ATX8_HUMAN, Q156A1 (See protein sequence)
Recommended Name: Ataxin-8  
Size: 80 amino acids; 10272 Da
Miscellaneous: It is unknown whether this protein exists in non-SCA8 individuals

Explore the universe of human proteins at neXtProt for ATXN8: NX_Q156A1


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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
ATXN: Ataxins

ProtoNet protein and cluster: Q156A1


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
ATX8_HUMAN, Q156A1: Nucleus. Note=Present in SCA8-specific 1C2-positive intranuclear inclusions

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus IEA--

Find genes that share ontologies with ATXN8           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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Interactions:

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Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008219cell death IEA--

Find genes that share ontologies with ATXN8           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Unigene Cluster for ATXN8:

Ataxin 8
Hs.645205
Unigene Representative Sequence: DQ641254
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Additional mRNA sequence: DQ641254.1 


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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ATXN8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GAACTGTGAG
ATXN8 Expression
About this image

ATXN8 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

SOURCE GeneReport for Unigene cluster: Hs.645205

UniProtKB/Swiss-Prot: ATX8_HUMAN, Q156A1
Tissue specificity: Specifically found in brains from SCA8 patients (at protein level)

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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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  --

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Polymorphic Variants from UniProtKB/Swiss-Prot
ATX8_HUMAN, Q156A1: The length of the poly-Gln expansion is variable and may contain one or more interruptions that
introduce arginines into the polyglutamine repeat tract

Human Gene Mutation Database (HGMD): ATXN8

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 613289   
OMIM disorders: 608768  
UniProtKB/Swiss-Prot: ATX8_HUMAN, Q156A1
  • 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. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 2 diseases for ATXN8:    
    About MalaCards
    spinocerebellar ataxia type 8    infantile onset spinocerebellar ataxia


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    Genetic Association Database (GAD): ATXN8
    Human Genome Epidemiology (HuGE) Navigator: ATXN8 (2 documents)

    Export disorders for ATXN8 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ATXN8 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with ATXN8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. (PubMed id 16804541)1, 2, 3 Moseley M.L.... Ranum L.P.W. (Nat. Genet. 2006)
    2. SCA8 repeat expansion: large CTA/CTG repeat alleles in neurological disorders and functional implications. (PubMed id 19229559)1, 4 Wu Y.R....Chen C.M. (Hum. Genet. 2009)
    3. The genetic aetiology of late-onset chronic progressive cerebellar ataxia. A population-based study. (PubMed id 19259763)1, 4 Wardle M....Robertson N.P. (J. Neurol. 2009)
    4. Clinical and genetic features of spinocerebellar ataxia type 8. (PubMed id 21827909)1 Ikeda Y....Day J.W. (Handb Clin Neurol 2012)
    5. ATXN8 -62 G/A promoter polymorphism and risk of Taiwanese Parkinson's disease. (PubMed id 22577844)1 Chen I.C....Chen C.M. (Eur. J. Neurol. 2012)
    6. Genetic screening of Greek patients with Huntingtona89s disease phenocopies identifies an SCA8 expansion. (PubMed id 22297462)1 Koutsis G....Panas M. (J. Neurol. 2012)
    7. Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay. (PubMed id 22053702)1 Tanaka E....Kawakami H. (Hiroshima J. Med. Sci. 2011)
    8. Spinocerebellar ataxia type 8 larger triplet expansion alters histone modification and induces RNA foci. (PubMed id 19203395)1 Chen I.C....Lee-Chen G.J. (BMC Mol. Biol. 2009)
    9. Increased transcript diversity: novel splicing variants of Machado- Joseph Disease gene (ATXN3). (PubMed id 19714377)1 Bettencourt C.... Lima M. (Neurogenetics 2009)
    10. Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes. (PubMed id 18418692)1 Ikeda Y....Ranum L.P. (Cerebellum 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 724066 HGNC: 32925 euGenes: HUgn724066 ECgene: ATXN8 H-InvDB: ATXN8

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ATXN8 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ATXN8[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
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    Patent Information for ATXN8 gene:
    Search GeneIP for patents involving ATXN8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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