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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
  • Homeobox Protein ARX 3
  • 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. Expansion of a polyalanine tract and other mutations in this gene cause X-linked cognitive disability and epilepsy. [provided by RefSeq, Jul 2016]

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 Corpus Callosum, Agenesis Of, With Abnormal Genitalia. Among its related pathways are Ectoderm Differentiation. Gene Ontology (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 ALX4.

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

Additional gene information for ARX Gene

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

Genomics for ARX Gene

GeneHancer (GH) Regulatory Elements for ARX Gene

Promoters and enhancers for ARX Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI025015 Promoter/Enhancer 1.4 EPDnew ENCODE dbSUPER 550.8 +0.4 388 1.2 MXI1 USF1 SAP130 SUZ12 ARID4B MAX POLR2A EGR1 EZH2 L3MBTL2 ARX GC0XP024999
GH0XI025017 Enhancer 0.5 dbSUPER 550.8 -1.3 -1338 0.4 ZNF335 SP1 MAZ SUZ12 CTBP2 EZH2 EGR2 ARX LOC139957
GH0XI025018 Enhancer 0.5 ENCODE dbSUPER 550.8 -0.8 -759 0.2 EZH2 ARX LOC139957
GH0XI025011 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 7.7 +3.8 3806 2.7 SIN3A GLI4 ZNF2 ZNF335 GLIS2 ZNF366 ZNF202 ZNF263 ZNF680 ELF1 POLA1 ZFX EIF2S3 LOC389842 ARX PCYT1B GC0XP024999
GH0XI025000 Enhancer 0.8 VISTA dbSUPER 0.4 +14.8 14835 1.7 CTCF EZH2 GC0XP024999 ARX
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ARX on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ARX gene promoter:

Genomic Locations for ARX Gene

Genomic Locations for ARX Gene
chrX:25,003,694-25,016,420
(GRCh38/hg38)
Size:
12,727 bases
Orientation:
Minus strand
chrX:25,021,811-25,034,065
(GRCh37/hg19)

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:
    Q96QS3-ARX_HUMAN
    Recommended name:
    Homeobox protein ARX
    Protein Accession:
    Q96QS3

    Protein attributes for ARX Gene

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

neXtProt entry for ARX Gene

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

  • Abcam antibodies for ARX
  • Santa Cruz Biotechnology (SCBT) Antibodies for ARX

No data available for DME Specific Peptides for ARX Gene

Domains & Families for ARX Gene

Gene Families for ARX Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

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 :
  • Belongs to the paired homeobox family. Bicoid subfamily.
Family:
  • 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.

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:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IDA 16301625
GO:0001206 transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding IEA --
GO:0003677 DNA binding IEA --
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

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

CRISPR Products

miRNA for ARX Gene

miRTarBase miRNAs that target ARX

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for ARX Gene

Localization for ARX Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARX Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ARX gene
Compartment Confidence
nucleus 5

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ARX Gene

Pathways & Interactions for ARX Gene

SuperPathway Contained pathways
1 Ectoderm Differentiation
genes like me logo Genes that share pathways with ARX: view

Pathways by source for ARX Gene

1 BioSystems pathway 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 by RNA polymerase II IEA --
GO:0001764 neuron migration IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with ARX: view

No data available for 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

Unigene Clusters for ARX Gene

Aristaless related homeobox:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for ARX Gene

NURSA nuclear receptor signaling pathways regulating expression of ARX Gene:

ARX

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.

Evidence on tissue expression from TISSUES for ARX Gene

  • Nervous system(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ARX Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • pharynx
  • salivary gland
  • scalp
  • skull
  • tooth
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • lung
  • rib
  • rib cage
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • penis
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • vagina
  • vulva
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • nail
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with ARX: view

Primer 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
rat
(Rattus norvegicus)
Mammalia Arx 33
  • 89.15 (n)
mouse
(Mus musculus)
Mammalia Arx 33 16 34
  • 88.99 (n)
dog
(Canis familiaris)
Mammalia ARX 33 34
  • 87.19 (n)
oppossum
(Monodelphis domestica)
Mammalia ARX 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARX 34
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARX 34
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARX 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.9717 33
zebrafish
(Danio rerio)
Actinopterygii arxa 34
  • 69 (a)
OneToMany
ARX (3 of 3) 34
  • 50 (a)
OneToMany
pax6l 34
  • 30 (a)
OneToMany
-- 33
fruit fly
(Drosophila melanogaster)
Insecta Pph13 34
  • 25 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 27 (a)
OneToOne
Species where no ortholog for ARX was found in the sources mined by GeneCards:
  • 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

(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 Variation AA Info Type
rs104894740 pathogenic, Lissencephaly 2, X-linked 25,010,262(-) G/A coding_sequence_variant, stop_gained
rs104894741 pathogenic, Lissencephaly 2, X-linked, Lissencephaly, X-linked 2 (LISX2) [MIM:300215] 25,012,967(-) A/T coding_sequence_variant, missense_variant
rs104894743 pathogenic, Epileptic encephalopathy, early infantile, 1, Epileptic encephalopathy, early infantile, 1 (EIEE1) [MIM:308350] 25,012,937(-) G/A coding_sequence_variant, missense_variant
rs104894745 pathogenic, epileptic encephalopathy, early infanitle, 1, Proud Levine Carpenter syndrome, not provided, Agenesis of the corpus callosum, with abnormal genitalia (ACCAG) [MIM:300004] 25,012,997(-) G/C/T coding_sequence_variant, missense_variant
rs104894746 pathogenic, likely-pathogenic, Hydranencephaly with abnormal genitalia, not provided 25,010,274(-) C/A/T coding_sequence_variant, missense_variant, stop_gained

Variation tolerance for ARX Gene

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

Additional Variant Information for ARX Gene

Human Gene Mutation Database (HGMD)
ARX
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARX

SNP Genotyping and Copy Number Assay Products

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

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

UniProtKB/Swiss-Prot

ARX_HUMAN
  • 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.
  • 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, ECO:0000269 PubMed:27864847}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.
  • 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.
  • 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.

Additional Disease Information for ARX

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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) Strømme P … Gécz J (Nature genetics 2002) 2 3 4 22 58
  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 ML … Schwartz CE (BMC medical genetics 2005) 2 3 22 58
  3. Screening of the ARX gene in 682 retarded males. (PMID: 15199382) Grønskov K … Brøndum-Nielsen K (European journal of human genetics : EJHG 2004) 3 22 44 58
  4. 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 (Human molecular genetics 2002) 3 4 22 58
  5. Human ARX gene: genomic characterization and expression. (PMID: 12359145) Ohira R … McCabe ER (Molecular genetics and metabolism 2002) 3 4 22 58

Products for ARX Gene

Sources for ARX Gene

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