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Gene : ARX Homo sapiens

Name  ? aristaless related homeobox Cytological Location  Xp21.3
Brief Description  aristaless related homeobox
Description  This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Expansion of a polyalanine tract and other mutations in this gene cause X-linked cognitive disability and epilepsy. [provided by RefSeq, Jul 2016]
  • synonyms:
  • MRX29,
  • ARX,
  • mental retardation, X-linked 87,
  • MRX54,
  • MRX76,
  • MRX32,
  • OTTHUMG00000021275,
  • ISSX,
  • MRX38,
  • mental retardation, X-linked 36,
  • MRXS1,
  • MRXS1,
  • mental retardation, X-linked 76,
  • PRTS,
  • MRX87,
  • mental retardation, X-linked 54,
  • MRX43,
  • CT121,
  • mental retardation, X-linked 43,
  • cancer/testis antigen 121,
  • MRX76,
  • PRTS,
  • MRX38,
  • ISSX,
  • HGNC:18060,
  • MRX32,
  • MRX54,
  • uc004dbp.5,
  • MRX36,
  • AY038071,
  • MRX87,
  • NM_139058,
  • mental retardation, X-linked 33,
  • MRX43,
  • MRX29,
  • mental retardation, X-linked 29,
  • EIEE1,
  • MRX33,
  • MRX33,
  • CT121,
  • EIEE1,
  • mental retardation, X-linked 38,
  • MRX36,
  • mental retardation, X-linked 32
  • identifiers:
  • 170302,
  • ENSG00000004848,
  • ARX

Genome feature

Region: gene ? Length: 12272  
Location: X:25003694-25015965 reverse strand Cyto location: Xp21.3


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

6 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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Interactions

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Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

19 SN Ps

5 Cross References

16 Data Sets

28 Homologues

0 Located Features

97 Rna Seq Results