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Gene : ATXN3 Homo sapiens

Name  ? ataxin 3 Cytological Location  14q32.12
Brief Description  ataxin 3
Description  Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2016]
  • synonyms:
  • uc001yac.5,
  • JOS,
  • AT3,
  • MJD,
  • SCA3,
  • MJD1,
  • ATX3,
  • ATX3,
  • SCA3,
  • HGNC:7106,
  • U64820,
  • Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3),
  • ATXN3,
  • OTTHUMG00000162212,
  • JOS,
  • MJD,
  • NM_004993
  • identifiers:
  • 4287,
  • ENSG00000066427,
  • ATXN3

Genome feature

Region: gene ? Length: 48031  
Location: 14:92058552-92106582 reverse strand Cyto location: 14q32.12

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



3740 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results