U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    ARX aristaless related homeobox [ Homo sapiens (human) ]

    Gene ID: 170302, updated on 29-Jan-2024

    Summary

    Official Symbol
    ARXprovided by HGNC
    Official Full Name
    aristaless related homeoboxprovided by HGNC
    Primary source
    HGNC:HGNC:18060
    See related
    Ensembl:ENSG00000004848 MIM:300382; AllianceGenome:HGNC:18060
    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]
    Expression
    Biased expression in ovary (RPKM 16.9), brain (RPKM 2.3) and 2 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ARX in Genome Data Viewer
    Location:
    Xp21.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (25003694..25015965, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (24587932..24600202, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (25021811..25034082, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene DNA polymerase alpha 1, catalytic subunit Neighboring gene eukaryotic translation elongation factor 1 beta 2 pseudogene 3 Neighboring gene VISTA enhancer hs118 Neighboring gene VISTA enhancer hs119 Neighboring gene uncharacterized LOC124905263 Neighboring gene VISTA enhancer hs121 Neighboring gene VISTA enhancer hs122 Neighboring gene VISTA enhancer hs145 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:25021017-25021551 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:25022180-25022754 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:25022755-25023328 Neighboring gene aristaless related homeobox polyalanine expansion region Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:25038709-25039287 Neighboring gene PAFAH1B2 pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:25068048-25068635 Neighboring gene RNA, 7SL, cytoplasmic 91, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Corpus callosum agenesis-abnormal genitalia syndrome
    MedGen: C0796124 OMIM: 300004 GeneReviews: Not available
    Compare labs
    Developmental and epileptic encephalopathy, 1
    MedGen: C3463992 OMIM: 308350 GeneReviews: Not available
    Compare labs
    Intellectual disability, X-linked, with or without seizures, arx-related
    MedGen: C0796244 OMIM: 300419 GeneReviews: Not available
    Compare labs
    Partington syndrome
    MedGen: C0796250 OMIM: 309510 GeneReviews: Not available
    Compare labs
    X-linked lissencephaly with abnormal genitalia
    MedGen: C1846171 OMIM: 300215 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2019-12-05)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2019-12-05)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell proliferation in forebrain IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cerebral cortex GABAergic interneuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cerebral cortex tangential migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic olfactory bulb interneuron precursor migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epithelial cell fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in globus pallidus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lipid digestion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in organ growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of organ growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    homeobox protein ARX
    Names
    aristaless-related homeobox, X-linked
    cancer/testis antigen 121

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4984..17255
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_139058.3NP_620689.1  homeobox protein ARX

      See identical proteins and their annotated locations for NP_620689.1

      Status: REVIEWED

      Source sequence(s)
      AA484051, AC002504, AY038071, BF196892, BQ100952, CA775911
      Consensus CDS
      CCDS14215.1
      UniProtKB/Swiss-Prot
      Q96QS3
      Related
      ENSP00000368332.4, ENST00000379044.5
      Conserved Domains (2) summary
      pfam00046
      Location:332385
      Homeobox; Homeobox domain
      pfam03826
      Location:526544
      OAR; OAR domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      25003694..25015965 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      24587932..24600202 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)