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Aliases for ARX Gene

Aliases for ARX Gene

  • Aristaless Related Homeobox 2 3 5
  • Cancer/Testis Antigen 121 2 3
  • Aristaless-Related Homeobox, X-Linked 3
  • Mental Retardation, X-Linked 54 2
  • Mental Retardation, X-Linked 43 2
  • Mental Retardation, X-Linked 36 2
  • Mental Retardation, X-Linked 29 2
  • Mental Retardation, X-Linked 32 2
  • Mental Retardation, X-Linked 33 2
  • Mental Retardation, X-Linked 38 2
  • Mental Retardation, X-Linked 87 2
  • Mental Retardation, X-Linked 76 2
  • Aristaless-Related Homeobox 4
  • CT121 3
  • EIEE1 3
  • MRX29 3
  • MRX32 3
  • MRX33 3
  • MRX36 3
  • MRX38 3
  • MRX43 3
  • MRX54 3
  • MRX76 3
  • MRX87 3
  • MRXS1 3
  • ISSX 3
  • PRTS 3

External Ids for ARX Gene

Previous HGNC Symbols for ARX Gene

  • MRXS1
  • PRTS
  • MRX76
  • MRX54
  • MRX43
  • MRX36
  • MRX29
  • MRX32
  • MRX33
  • MRX38
  • MRX87

Previous GeneCards Identifiers for ARX Gene

  • GC0XU990381
  • GC0XM023681
  • GC0XM024224
  • GC0XM024383
  • GC0XM024781
  • GC0XM024931
  • GC0XM022763

Summaries for ARX Gene

Entrez Gene Summary for ARX Gene

  • 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]

GeneCards Summary for ARX Gene

ARX (Aristaless Related Homeobox) is a Protein Coding gene. Diseases associated with ARX include partington syndrome and epileptic encephalopathy, early infantile, 1. GO annotations related to this gene include chromatin binding and transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding. An important paralog of this gene is PRRX2.

UniProtKB/Swiss-Prot for ARX Gene

  • Transcription factor required for normal brain development. May be important for maintenance of specific neuronal subtypes in the cerebral cortex and axonal guidance in the floor plate.

Gene Wiki entry for ARX Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARX Gene

Genomics for ARX Gene

Regulatory Elements for ARX Gene

Genomic Location for ARX Gene

25,003,694 bp from pter
25,015,948 bp from pter
12,255 bases
Minus strand

Genomic View for ARX Gene

Genes around ARX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARX Gene

Proteins for ARX Gene

  • Protein details for ARX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Homeobox protein ARX
    Protein Accession:

    Protein attributes for ARX Gene

    562 amino acids
    Molecular mass:
    58160 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ARX Gene

Proteomics data for ARX Gene at MOPED

Post-translational modifications for ARX Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ARX Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for ARX Gene

Domains & Families for ARX Gene

Suggested Antigen Peptide Sequences for ARX Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the paired homeobox family. Bicoid subfamily.
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the paired homeobox family. Bicoid subfamily.
genes like me logo Genes that share domains with ARX: view

Function for ARX Gene

Molecular function for ARX Gene

UniProtKB/Swiss-Prot Function:
Transcription factor required for normal brain development. May be important for maintenance of specific neuronal subtypes in the cerebral cortex and axonal guidance in the floor plate.
genes like me logo Genes that share phenotypes with ARX: view

Human Phenotype Ontology for ARX Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ARX Gene

MGI Knock Outs for ARX:

Animal Model Products

miRNA for ARX Gene

miRTarBase miRNAs that target ARX

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for ARX Gene

Localization for ARX Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARX Gene


Subcellular locations from

Jensen Localization Image for ARX Gene COMPARTMENTS Subcellular localization image for ARX gene
Compartment Confidence
nucleus 5
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for ARX Gene

Pathways & Interactions for ARX Gene

SuperPathways for ARX Gene

No Data Available

Interacting Proteins for ARX Gene

Gene Ontology (GO) - Biological Process for ARX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001764 neuron migration IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007411 axon guidance IEA --
GO:0010628 positive regulation of gene expression IEA --
genes like me logo Genes that share ontologies with ARX: view

No data available for Pathways by source and SIGNOR curated interactions for ARX Gene

Drugs & Compounds for ARX Gene

(1) Drugs for ARX Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for ARX Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ARX: view

Transcripts for ARX Gene

mRNA/cDNA for ARX Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(25) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ARX Gene

Aristaless related homeobox:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ARX Gene

No ASD Table

Relevant External Links for ARX Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ARX Gene

mRNA expression in normal human tissues for ARX Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ARX Gene

This gene is overexpressed in Ovary (x24.7).

Protein differential expression in normal tissues from HIPED for ARX Gene

This gene is overexpressed in Fetal ovary (29.3), Platelet (15.1), Fetal testis (14.4), and Ovary (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ARX Gene

SOURCE GeneReport for Unigene cluster for ARX Gene Hs.300304

mRNA Expression by UniProt/SwissProt for ARX Gene

Tissue specificity: Expressed predominantly in fetal and adult brain and skeletal muscle. Expression is specific to the telencephalon and ventral thalamus. There is an absence of expression in the cerebellum throughout development and also in adult.
genes like me logo Genes that share expression patterns with ARX: view

Protein tissue co-expression partners for ARX Gene

Primer Products

In Situ Assay Products

Orthologs for ARX Gene

This gene was present in the common ancestor of animals.

Orthologs for ARX Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia ARX 35
  • 87.19 (n)
  • 88.43 (a)
ARX 36
  • 84 (a)
(Mus musculus)
Mammalia Arx 16
Arx 36
  • 96 (a)
Arx 35
  • 88.99 (n)
  • 94.11 (a)
(Monodelphis domestica)
Mammalia ARX 36
  • 85 (a)
(Ornithorhynchus anatinus)
Mammalia ARX 36
  • 44 (a)
(Rattus norvegicus)
Mammalia Arx 35
  • 89.15 (n)
  • 95.17 (a)
(Gallus gallus)
Aves ARX 36
  • 61 (a)
(Anolis carolinensis)
Reptilia ARX 36
  • 84 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.9717 35
(Danio rerio)
Actinopterygii ARX (3 of 3) 36
  • 50 (a)
arxa 36
  • 69 (a)
pax6l 36
  • 30 (a)
-- 35
fruit fly
(Drosophila melanogaster)
Insecta Pph13 36
  • 25 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 27 (a)
Species with no ortholog for ARX:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ARX Gene

Gene Tree for ARX (if available)
Gene Tree for ARX (if available)

Paralogs for ARX Gene

Paralogs for ARX Gene

(7) SIMAP similar genes for ARX Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ARX: view

Variants for ARX Gene

Sequence variations from dbSNP and Humsavar for ARX Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_015178 Lissencephaly, X-linked 2 (LISX2)
VAR_015179 Lissencephaly, X-linked 2 (LISX2)
VAR_015180 Epileptic encephalopathy, early infantile, 1 (EIEE1)
rs28936077 Mental retardation, X-linked, ARX-related (MRXARX) 25,015,640(-) CATCC(C/T)GGGCC reference, missense
rs28935479 Mental retardation, X-linked, ARX-related (MRXARX) 25,013,139(-) CAGAG(A/G)GCGGG reference, missense

Variation tolerance for ARX Gene

Gene Damage Index Score: 0.23; 5.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ARX Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ARX Gene

Disorders for ARX Gene

MalaCards: The human disease database

(34) MalaCards diseases for ARX Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
partington syndrome
  • x-linked russell-silver syndrome
epileptic encephalopathy, early infantile, 1
  • eiee1
lissencephaly, x-linked 2
  • hydranencephaly with abnormal genitalia
mental retardation, x-linked 29 and others
  • mental retardation, x-linked-29
proud syndrome
  • acc with abnormal genitalia
- elite association - COSMIC cancer census association via MalaCards
Search ARX in MalaCards View complete list of genes associated with diseases


  • Lissencephaly, X-linked 2 (LISX2) [MIM:300215]: A classic type lissencephaly associated with abnormal genitalia. Patients have severe congenital or postnatal microcephaly, lissencephaly, agenesis of the corpus callosum, neonatal-onset intractable epilepsy, poor temperature regulation, chronic diarrhea, and ambiguous or underdeveloped genitalia. {ECO:0000269 PubMed:12379852, ECO:0000269 PubMed:14722918}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epileptic encephalopathy, early infantile, 1 (EIEE1) [MIM:308350]: A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. {ECO:0000269 PubMed:11889467, ECO:0000269 PubMed:12376946}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Partington syndrome (PRTS) [MIM:309510]: Characterized by mental retardation, episodic dystonic hand movements, and dysarthria. {ECO:0000269 PubMed:11889467}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mental retardation, X-linked, ARX-related (MRXARX) [MIM:300419]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269 PubMed:11971879}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Agenesis of the corpus callosum, with abnormal genitalia (ACCAG) [MIM:300004]: A X-linked syndrome with variable expression in females. It is characterized by agenesis of corpus callosum, mental retardation and seizures. Manifestations in surviving males include severe acquired micrencephaly, mental retardation, limb contractures, scoliosis, tapered fingers with hyperconvex nails, a characteristic face with large eyes, prominent supraorbital ridges, synophrys, optic atrophy, broad alveolar ridges, and seizures. Urologic anomalies include renal dysplasia, cryptorchidism, and hypospadias. {ECO:0000269 PubMed:14722918}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ARX

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ARX: view

No data available for Genatlas for ARX Gene

Publications for ARX Gene

  1. Mutations in the human ortholog of aristaless cause X-linked mental retardation and epilepsy. (PMID: 11889467) Stroemme P. … Gecz J. (Nat. Genet. 2002) 2 3 4 23 67
  2. XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene. (PMID: 15850492) Stepp M.L. … Schwartz C.E. (BMC Med. Genet. 2005) 2 3 23
  3. A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment. (PMID: 19587282) Price M.G. … Noebels J.L. (J. Neurosci. 2009) 3 23
  4. Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice. (PMID: 19605412) Kitamura K. … Goto Y. (Hum. Mol. Genet. 2009) 3 23
  5. CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy. (PMID: 19734009) Nabbout R. … Bahi-Buisson N. (Epilepsy Res. 2009) 3 23

Products for ARX Gene

Sources for ARX Gene

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