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ARX aristaless related homeobox [ Homo sapiens (human) ]

Gene ID: 170302, updated on 4-Jan-2025

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
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Genomic context

See ARX in Genome Data Viewer
Location:
Xp21.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (25003694..25015965, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (24587932..24600202, complement)
RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

General gene information

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in axon guidance  
involved_in cell proliferation in forebrain  
involved_in cerebral cortex GABAergic interneuron migration  
involved_in cerebral cortex tangential migration  
involved_in embryonic olfactory bulb interneuron precursor migration  
involved_in epithelial cell fate commitment  
involved_in globus pallidus development  
involved_in lipid digestion  
involved_in negative regulation of transcription by RNA polymerase II PubMed 
involved_in organ growth  
involved_in positive regulation of gene expression  
involved_in positive regulation of organ growth  
involved_in positive regulation of transcription by RNA polymerase II PubMed 
involved_in positive regulation of transcription by RNA polymerase II PubMed 
involved_in regulation of epithelial cell proliferation  
involved_in regulation of transcription by RNA polymerase II  
Component Evidence Code Pubs
located_in chromatin  
located_in nucleus PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_2024_08

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)
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