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ARX aristaless related homeobox [ Homo sapiens (human) ]

Gene ID: 170302, updated on 5-Dec-2018

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
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

Genomic context

See ARX in Genome Data Viewer
Location:
Xp21.3
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 VISTA enhancer hs122 Neighboring gene VISTA enhancer hs145 Neighboring gene aristaless related homeobox polyalanine expansion region Neighboring gene platelet activating factor acetylhydrolase 1b catalytic subunit 2 pseudogene 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
neuron development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_139058.3NP_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, ENST00000379044.4
    Conserved Domains (2) summary
    pfam00046
    Location:332384
    Homeobox; Homeobox domain
    pfam03826
    Location:526544
    OAR; OAR domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

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