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Aliases for ARX Gene

Aliases for ARX Gene

  • Aristaless Related Homeobox 2 3
  • Cancer/Testis Antigen 121 2 3
  • MRX29 3 6
  • MRX32 3 6
  • MRX36 3 6
  • MRX43 3 6
  • MRX54 3 6
  • MRX87 3 6
  • MRXS1 3 6
  • ISSX 3 6
  • PRTS 3 6
  • 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
  • Homeobox Protein ARX 3
  • CT121 3
  • EIEE1 3
  • MRX33 3
  • MRX38 3
  • MRX76 3

External Ids for ARX Gene

Previous Symbols for ARX Gene

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

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 epileptic encephalopathy, early infantile, 1 and lissencephaly, x-linked 2. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and chromatin binding. An important paralog of this gene is PHOX2B.

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

Genomic Location for ARX Gene

Start:
25,003,694 bp from pter
End:
25,015,948 bp from pter
Size:
12,255 bases
Orientation:
Minus strand

Genomic View for ARX Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ARX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARX Gene

Regulatory Elements for ARX Gene

Proteins for ARX Gene

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

    Protein Symbol:
    Q96QS3-ARX_HUMAN
    Recommended name:
    Homeobox protein ARX
    Protein Accession:
    Q96QS3
    Secondary Accessions:

    Protein attributes for ARX Gene

    Size:
    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:

No data available for DME Specific Peptides for ARX Gene

Domains for ARX Gene

Gene Families for ARX Gene

HGNC:
  • PRD :Homeoboxes / PRD class

Suggested Antigen Peptide Sequences for ARX Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96QS3

UniProtKB/Swiss-Prot:

ARX_HUMAN
Domain:
  • Contains 1 homeobox DNA-binding domain.:
    • Q96QS3
Family:
  • Belongs to the paired homeobox family. Bicoid subfamily.:
    • Q96QS3
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

Gene Ontology (GO) - Molecular Function for ARX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IEA --
GO:0001206 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IEA --
GO:0003677 DNA binding --
GO:0003682 chromatin binding IEA --
genes like me logo Genes that share ontologies with ARX: view
genes like me logo Genes that share phenotypes with ARX: view

miRNA for ARX Gene

miRTarBase miRNAs that target ARX

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for ARX Gene

Localization for ARX Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARX Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ARX Gene COMPARTMENTS Subcellular localization image for ARX gene
Compartment Confidence
nucleus 3

Gene Ontology (GO) - Cellular Components for ARX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with ARX: view

Pathways 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 --
GO:0006351 transcription, DNA-templated IEA --
GO:0007411 axon guidance IEA --
GO:0021759 globus pallidus development IEA --
genes like me logo Genes that share ontologies with ARX: view

No data available for Pathways by source for ARX Gene

Compounds for ARX Gene

(2) Novoseek inferred chemical compound relationships for ARX Gene

Compound -log(P) Hits PubMed IDs
alanine 60.5 18
gaba 3.36 1
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
ARX
ECgene alternative splicing isoforms for
ARX

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 (24.7).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for ARX Gene

SOURCE GeneReport for Unigene cluster for ARX Gene Hs.300304

mRNA Expression by UniProt/SwissProt for ARX Gene

Q96QS3-ARX_HUMAN
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 expressions with ARX: view

Orthologs for ARX Gene

This gene was present in the common ancestor of animals.

Orthologs for ARX Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia ARX 35
  • 87.19 (n)
  • 88.43 (a)
ARX 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arx 35
  • 88.99 (n)
  • 94.11 (a)
Arx 16
Arx 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARX 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARX 36
  • 44 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arx 35
  • 89.15 (n)
  • 95.17 (a)
chicken
(Gallus gallus)
Aves ARX 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARX 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.9717 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
ARX (3 of 3) 36
  • 50 (a)
OneToMany
arxa 36
  • 69 (a)
OneToMany
pax6l 36
  • 30 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Pph13 36
  • 25 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 27 (a)
OneToOne
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

ENSEMBL:
Gene Tree for ARX (if available)
TreeFam:
Gene Tree for ARX (if available)

Paralogs for ARX Gene

Paralogs for ARX Gene

Selected 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 MAF
rs2074002 -- 25,010,180(-) GCGGG(A/G)GGGTG intron-variant
rs2239967 -- 25,006,312(-) TACAG(A/G)AAATT intron-variant
rs2239968 -- 25,005,946(-) CTGGA(A/T)ATCCG intron-variant
rs2285563 -- 25,008,876(-) TTGGC(A/C)GACTT intron-variant
rs2319813 -- 25,017,315(+) AACAT(C/G)TGCAT upstream-variant-2KB

Relevant External Links for ARX Gene

HapMap Linkage Disequilibrium report
ARX
Human Gene Mutation Database (HGMD)
ARX

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

(5) OMIM Diseases for ARX Gene (300382)

UniProtKB/Swiss-Prot

ARX_HUMAN
  • 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.

(4) University of Copenhagen DISEASES for ARX Gene

(12) Novoseek inferred disease relationships for ARX Gene

Disease -log(P) Hits PubMed IDs
lissencephaly, x-linked 95.9 10
infantile spasms 91.7 21
mental retardation 83.4 45
cryptogenic west syndrome 82.4 2
epilepsies myoclonic 80.3 5

Relevant External Links for ARX

Genetic Association Database (GAD)
ARX
Human Genome Epidemiology (HuGE) Navigator
ARX
genes like me logo Genes that share disorders with ARX: view

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
  2. ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. (PMID: 11971879) Bienvenu T. … Chelly J. (Hum. Mol. Genet. 2002) 3 4 23
  3. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. (PMID: 12379852) Kitamura K. … Morohashi K. (Nat. Genet. 2002) 3 4 23
  4. Human ARX gene: genomic characterization and expression. (PMID: 12359145) Ohira R.H. … McCabe E. (Mol. Genet. Metab. 2002) 3 4 23
  5. Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. (PMID: 12376946) Turner G. … Gecz J. (Am. J. Med. Genet. 2002) 3 4 23

Products for ARX Gene

Sources for ARX Gene

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