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    ARX aristaless related homeobox [ Homo sapiens (human) ]

    Gene ID: 170302, updated on 16-Jul-2017
    Official Symbol
    ARXprovided by HGNC
    Official Full Name
    aristaless related homeoboxprovided by HGNC
    Primary source
    HGNC:HGNC:18060
    See related
    Ensembl:ENSG00000004848 MIM:300382; Vega:OTTHUMG00000021275
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ISSX; PRTS; CT121; EIEE1; MRX29; MRX32; MRX33; MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1
    Summary
    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]
    Orthologs
    Location:
    Xp21.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (25003694..25015948, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (25021811..25034065, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene DNA polymerase alpha 1, catalytic subunit Neighboring gene small Cajal body-specific RNA 23 Neighboring gene eukaryotic translation elongation factor 1 beta 2 pseudogene 3 Neighboring gene platelet activating factor acetylhydrolase 1b catalytic subunit 2 pseudogene Neighboring gene RNA, 7SL, cytoplasmic 91, pseudogene

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Epileptic encephalopathy, early infantile, 1
    MedGen: C3463992 OMIM: 308350 GeneReviews: Not available
    Compare labs
    Lissencephaly 2, X-linked
    MedGen: C1846171 OMIM: 300215 GeneReviews: Not available
    Compare labs
    Mental retardation, with or without seizures, ARX-related, X-linked
    MedGen: C0796244 OMIM: 300419 GeneReviews: Not available
    Compare labs
    Partington X-linked mental retardation syndrome
    MedGen: C0796250 OMIM: 309510 GeneReviews: Not available
    Compare labs
    Proud Levine Carpenter syndrome
    MedGen: C0796124 OMIM: 300004 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-09-06)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-09-06)

    ClinGen Genome Curation PagePubMed
    • Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
      Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    cell proliferation in forebrain IEA
    Inferred from Electronic Annotation
    more info
     
    cerebral cortex GABAergic interneuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    cerebral cortex tangential migration IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic olfactory bulb interneuron precursor migration IEA
    Inferred from Electronic Annotation
    more info
     
    epithelial cell fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    globus pallidus development IEA
    Inferred from Electronic Annotation
    more info
     
    lipid digestion IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of organ growth IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    homeobox protein ARX
    Names
    aristaless-related homeobox, X-linked
    cancer/testis antigen 121

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008281.1 RefSeqGene

      Range
      5001..17255
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_139058.2NP_620689.1  homeobox protein ARX

      See identical proteins and their annotated locations for NP_620689.1

      Status: REVIEWED

      Source sequence(s)
      AA484051, AY038071, BF196892, BQ100952, CA775911
      Consensus CDS
      CCDS14215.1
      UniProtKB/Swiss-Prot
      Q96QS3
      Related
      ENSP00000368332.4, OTTHUMP00000023088, ENST00000379044.4, OTTHUMT00000056109
      Conserved Domains (2) summary
      pfam00046
      Location:332384
      Homeobox; Homeobox domain
      pfam03826
      Location:526543
      OAR; OAR domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      25003694..25015948 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      25053346..25065599 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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