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ARX aristaless related homeobox [ Homo sapiens (human) ]

Gene ID: 170302, updated on 17-Mar-2015
Official Symbol
ARXprovided by HGNC
Official Full Name
aristaless related homeoboxprovided by HGNC
Primary source
HGNC:HGNC:18060
See related
Ensembl:ENSG00000004848; HPRD:02307; 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. Mutations in this gene cause X-linked mental retardation and epilepsy. [provided by RefSeq, Jul 2008]
Orthologs
See ARX in MapViewer
Location:
Xp21.3
Exon count:
5
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 polymerase (DNA directed), 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 (30kDa) pseudogene Neighboring gene methyltransferase like 1 pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

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

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 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
homeobox protein ARX
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 proteins identical to NP_620689.1

    Status: REVIEWED

    Source sequence(s)
    AA484051, AY038071, BF196892, BQ100952, CA775911
    Consensus CDS
    CCDS14215.1
    UniProtKB/Swiss-Prot
    Q96QS3
    Related
    ENSP00000368332, OTTHUMP00000023088, ENST00000379044, OTTHUMT00000056109
    Conserved Domains (2) summary
    cd00086
    Location:329387
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    pfam03826
    Location:526544
    OAR; OAR domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

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