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Gene : ATXN3L Homo sapiens

Name  ? ataxin 3 like Cytological Location  Xp22.2
Brief Description  ataxin 3 like
Description  This intronless gene may be a pseudogene (PMID:11450850). This gene is similar to the multi-exon gene which encodes ataxin 3 and contains a coding region which could encode a protein similar to ataxin 3. Mutations in the gene encoding ataxin 3 are associated with Machado-Joseph disease. [provided by RefSeq, Sep 2011]
  • synonyms:
  • uc010ned.4,
  • NM_001135995,
  • HGNC:24173,
  • ATXN3L,
  • MJDL,
  • MJDL,
  • ataxin 3-like,
  • OTTHUMG00000021146
  • identifiers:
  • 92552,
  • ENSG00000123594,
  • ATXN3L

Genome feature

Region: gene ? Length: 1753  
Location: X:13318647-13320399 reverse strand Cyto location: Xp22.2


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 SN Ps

5 Cross References

15 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results