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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ARX Gene

protein-coding   GIFtS: 54
GCID: GC0XM025021

Aristaless Related Homeobox

(Previous names: mental retardation, X-linked 54, mental retardation, X-linked...)
(Previous symbols: MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33,...)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Aristaless Related Homeobox1 2     Mental Retardation, X-Linked 291
MRX291 2 5     Mental Retardation, X-Linked 321
MRX321 2 5     Mental Retardation, X-Linked 331
MRX361 2 5     Mental Retardation, X-Linked 361
MRX431 2 5     Mental Retardation, X-Linked 381
MRX541 2 5     Mental Retardation, X-Linked 431
MRX871 2 5     Mental Retardation, X-Linked 541
MRXS11 2 5     Mental Retardation, X-Linked 761
PRTS1 2 5     Mental Retardation, X-Linked 871
MRX331 2     CT1212
MRX381 2     EIEE12
MRX761 2     Aristaless-Related Homeobox, X-Linked2
Cancer/Testis Antigen 1211 2     Homeobox Protein ARX2
ISSX2 5     Aristaless-Related Homeobox3

External Ids:    HGNC: 180601   Entrez Gene: 1703022   Ensembl: ENSG000000048487   OMIM: 3003825   UniProtKB: Q96QS33   

Export aliases for ARX gene to outside databases

Previous GC identifers: GC0XU990381 GC0XM023681 GC0XM024224 GC0XM024383 GC0XM024781 GC0XM024931 GC0XM022763


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 ohtahara syndrome, and mental retardation epilepsy. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is ALX1.

UniProtKB/Swiss-Prot: ARX_HUMAN, Q96QS3
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 Wiki entry for ARX (Aristaless related homeobox) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_167197.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ARX gene promoter:
         STAT5B   MyoD   STAT5A   Arnt   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidARX promoter sequence
   Search SABiosciences Chromatin IP Primers for ARX

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARX


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp21.3   Ensembl cytogenetic band:  Xp21.3   HGNC cytogenetic band: Xp21.3

ARX Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARX gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM025021:  view genomic region     (about GC identifiers)

Start:
25,021,811 bp from pter      End:
25,034,065 bp from pter
Size:
12,255 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ARX_HUMAN, Q96QS3 (See protein sequence)
Recommended Name: Homeobox protein ARX  
Size: 562 amino acids; 58160 Da
Subcellular location: Nucleus (By similarity)

Explore the universe of human proteins at neXtProt for ARX: NX_Q96QS3

Explore proteomics data for ARX at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96QS3

  • ARX Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ARX Protein Expression
    REFSEQ proteins: NP_620689.1  
    ENSEMBL proteins: 
     ENSP00000368332  

    Human Recombinant Protein Products for ARX: 
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    Novus Biologicals ARX Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ARX 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    ARX for ontologies           About GeneDecksing



    ARX Antibody Products: 
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    ThermoFisher Antibodies for ARX
    LSBio Antibodies in human, mouse, rat for ARX 

    Assay Products for ARX: 
    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ARX 
    Cloud-Clone Corp. CLIAs for ARX


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PRD: Homeoboxes / PRD class

    4 InterPro protein domains:
     IPR003654 OAR_dom
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q96QS3

    ProtoNet protein and cluster: Q96QS3

    2 Blocks protein domains:
    IPB000047 Lambda and other repressor helix-turn-helix signature
    IPB003654 Paired-like homeodomain protein


    UniProtKB/Swiss-Prot: ARX_HUMAN, Q96QS3
    Similarity: Belongs to the paired homeobox family. Bicoid subfamily
    Similarity: Contains 1 homeobox DNA-binding domain


    ARX for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ARX_HUMAN, Q96QS3
    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): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0043565sequence-specific DNA binding IEA--
         
    ARX for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ARX:
     Decreased viability with pacli  Increased cell number in G2M,  

         11 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Arx):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size  homeostasis/metabolism 
     integument  mortality/aging  muscle  nervous system  normal 
     reproductive system 

    ARX for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ARX 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ARX

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ARX 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ARX 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ARX
    8/89 QIAGEN miScript miRNA Assays for microRNAs that regulate ARX (see all 89):
    hsa-miR-323-3p hsa-miR-607 hsa-miR-520e hsa-miR-300 hsa-miR-128 hsa-miR-519a hsa-miR-3909 hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmidARX 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of ARX

    Clone
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    GenScript: all cDNA clones in your preferred vector: ARX (NM_003658)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARX
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                         Customized lentivirus expression plasmids for stable overexpression of ARX 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARX


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ARX

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for ARX (ENSP000003683324) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SAE1ENSP000002702254STRING: ENSP00000270225
    UBE2IENSP000003248974STRING: ENSP00000324897
    BRIX1ENSP000003388624STRING: ENSP00000338862
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001764neuron migration IEA--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0007411axon guidance IEA--
    GO:0021759globus pallidus development IEA--

    ARX for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ARX for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ARX

    2 Novoseek inferred chemical compound relationships for ARX gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alanine 60.5 27 17331656 (3), 17668384 (3), 15199382 (2), 19507262 (2) (see all 12)
    gaba 3.36 2 15376319 (1)

    Search CenterWatch for drugs/clinical trials and news about ARX

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ARX gene: 
    NM_139058.2  

    Unigene Cluster for ARX:

    Aristaless related homeobox
    Hs.300304  [show with all ESTs]
    Unigene Representative Sequence: NM_139058
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000379044(uc004dbp.4)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ARX
    8/89 QIAGEN miScript miRNA Assays for microRNAs that regulate ARX (see all 89):
    hsa-miR-323-3p hsa-miR-607 hsa-miR-520e hsa-miR-300 hsa-miR-128 hsa-miR-519a hsa-miR-3909 hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmidARX 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ARX
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ARX
    Clone
    Products:
         
    OriGene clones in human, mouse for ARX (see all 7)
    OriGene ORF clones in mouse, rat for ARX
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ARX (NM_003658)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARX
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ARX
    Sirion Biotech Customized lentivirus for stable overexpression of ARX 
                         Customized lentivirus expression plasmids for stable overexpression of ARX 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for ARX
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ARX
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ARX
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ARX

    Additional mRNA sequence: 

    AY038071.1 BC148320.1 

    4 DOTS entries:

    DT.406505  DT.100041802  DT.86846546  DT.91999297 

    24/25 AceView cDNA sequences (see all 25):

    AW594527 AI656304 BQ100675 AY038071 BQ004351 NM_139058 AA484051 BQ100952 
    BF435105 AW453059 AA496211 BX282547 BM353865 BM055239 BF514139 CK825771 
    BU675227 AW028575 D80455 C14187 BF507697 D80456 C14188 AV718075 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ARX expression in normal human tissues (normalized intensities)      ARX embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAGCCCTCG
    ARX Expression
    About this image


    ARX expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/15 selected tissues (see all 15) fully expand
     
     Brain (Nervous System)    fully expand to see all 24 entries
             Thalamus
             Septum   
     
     Pancreas (Endocrine System)    fully expand to see all 17 entries
             Alpha Progenitor Cells Ventral Pancreatic Bud
             Pancreatic endoderm/endocrine precursor-like cells ( A scalable, suspension protocol...
             visceral organ/gut/foregut-midgut junction   
     
     Neural Tube (Nervous System)    fully expand to see all 8 entries
             Late Floor Plate Cells Mesencephalic Floor Plate
             Mesencephalic Floor Plate
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Testicular Interstitial Cells Testis Interstitium

    See ARX Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ARX

    SOURCE GeneReport for Unigene cluster: Hs.300304

    UniProtKB/Swiss-Prot: ARX_HUMAN, Q96QS3
    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

        SABiosciences Expression via Pathway-Focused PCR Array including ARX: 
              Homeobox (HOX) Genes in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARX

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ARX gene from 6/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arx1 , 5 aristaless related homeobox1, 5 90.36(n)1
    96.43(a)1
      X (41.05 cM)5
    118781  NM_007492.31  NP_031518.21 
     932865075 
    chicken
    (Gallus gallus)
    Aves ARX6
    aristaless related homeobox
    51(a)
    1 ↔ 1
    4(16726453-16733655)
    lizard
    (Anolis carolinensis)
    Reptilia ARX6
    Uncharacterized protein
    84(a)
    1 ↔ 1
    3(126342054-126358198)
    African clawed frog
    (Xenopus laevis)
    Amphibia AY130460.12   -- 79.05(n)    AY130460.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AB006104.12   -- 76.25(n)   30657  AB006104.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta al6
    CG343406
    --
    27(a)
    16(a)
    1 ↔ many
    1 ↔ many
    2L(378112-387439)
    2L(3662745-3691737)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ARX gene
    ALX12  PHOX2B2  RAX2  DRGX2  PRRX12  SHOX22  PHOX2A2  ALX42  
    ISX2  RAX22  ALX32  SHOX2  OTP2  PRRX22  
    7 SIMAP similar genes for ARX using alignment to 1 protein entry:     ARX_HUMAN:
    RAX2    DLX6    PRRX1    PRRX2    DRGX    PHOX2A
    PITX3

    ARX for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/149 SNPs in ARX are shown (see all 149)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0332624
    Lissencephaly, X-linked 2 (LISX2)4--see VAR_0332622 P R mis40--------
    VAR_0332614
    Agenesis of the corpus callosum, with abnormal genitalia (ACCAG)4--see VAR_0332612 T N mis40--------
    VAR_0151784
    Lissencephaly, X-linked 2 (LISX2)4--see VAR_0151782 R H mis40--------
    VAR_0151804
    Epileptic encephalopathy, early infantile, 1 (EIEE1)4--see VAR_0151802 P L mis40--------
    VAR_0332604
    Lissencephaly, X-linked 2 (LISX2)4--see VAR_0332602 R P mis40--------
    VAR_0151794
    Lissencephaly, X-linked 2 (LISX2)4--see VAR_0151792 L Q mis40--------
    VAR_0332634
    Lissencephaly, X-linked 2 (LISX2)4--see VAR_0332632 A T mis40--------
    rs289354791,2,4
    CMental retardation, X-linked, ARX-related (MRXARX)4 pathogenic125031256(-) CAGAGA/GGCGGG 2 S G mis1 ese30--------
    rs289360771,2,4
    CMental retardation, X-linked, ARX-related (MRXARX)4 pathogenic125033757(-) CATCCC/TGGGCC 2 P L mis1 ese30--------
    rs1048947401,2
    Cpathogenic125028379(-) GAGTCC/TAGGTG 2 Q * stg10--------

    HapMap Linkage Disequilibrium report for ARX (25021811 - 25034065 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ARX: --

    Human Gene Mutation Database (HGMD): ARX
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ARX
    DNA2.0 Custom Variant and Variant Library Synthesis for ARX

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300382   
    OMIM disorders: 308350  300215  300419  300004  309510  
    UniProtKB/Swiss-Prot: ARX_HUMAN, Q96QS3
  • 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. 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. 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. 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 adaptative 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. 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 20/35 diseases for ARX (see all 35):    About MalaCards
    ohtahara syndrome    mental retardation epilepsy    x-linked lissencephaly with ambiguous genitalia    partington syndrome
    arx-related disorders    lissencephaly, x-linked 2    spasticity - intellectual deficit - x-linked epilepsy    proud levine carpenter syndrome
    corpus callosum agenesis    hydranencephaly with abnormal genitalia    epileptic encephalopathy, early infantile, 1    mental retardation, x-linked, arx-related
    mental retardation    west syndrome    neuronal migration disorders    non-specific x-linked mental retardation
    lissencephaly x-linked    hydranencephaly    mental disorders    mental retardation, x-linked

    4 diseases from the University of Copenhagen DISEASES database for ARX:
    Partington syndrome     Lissencephaly     Intellectual disability     Autistic disorder

    ARX for disorders           About GeneDecksing

    10/12 Novoseek inferred disease relationships for ARX gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lissencephaly, x-linked 95.9 11 19605412 (2), 18412232 (1), 18808783 (1), 17515135 (1) (see all 9)
    infantile spasms 91.7 25 16806828 (3), 17664401 (2), 17641262 (2), 12376946 (2) (see all 15)
    mental retardation 83.4 63 19605412 (4), 17641262 (4), 16845484 (4), 16523516 (3) (see all 23)
    cryptogenic west syndrome 82.4 2 16806828 (1), 15021241 (1)
    epilepsies myoclonic 80.3 5 19734009 (1), 17641262 (1), 14631200 (1), 18975239 (1) (see all 5)
    corpus callosum agenesis 78.7 3 18808783 (1), 15921228 (1), 16724181 (1)
    severe mental retardation 72.2 1 12376946 (1)
    epilepsy 70 15 14631200 (3), 12689693 (2), 11889467 (2), 16806828 (1) (see all 9)
    myoclonic seizure 57.9 1 11889467 (1)
    neurological disorders 34.4 2 16845484 (1), 19085879 (1)

    Genetic Association Database (GAD): ARX
    Human Genome Epidemiology (HuGE) Navigator: ARX (4 documents)

    Export disorders for ARX gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ARX gene, integrated from 9 sources (see all 96):
    (articles sorted by number of sources associating them with ARX)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the human ortholog of aristaless cause X-linked mental retardation and epilepsy. (PubMed id 11889467)1, 2, 3, 9 Stroemme P.... Gecz J. (2002)
    2. Screening of the ARX gene in 682 retarded males. (PubMed id 15199382)1, 4, 9 Gronskov K....Brondum-Nielsen K. (2004)
    3. ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. (PubMed id 11971879)1, 2, 9 Bienvenu T.... Chelly J. (2002)
    4. XLMR in MRX families 29, 32, 33 and 38 results from t he dup24 mutation in the ARX (Aristaless related homeobox) gene. (PubMed id 15850492)1, 3, 9 Stepp M.L....Schwartz C.E. (2005)
    5. Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. (PubMed id 12376946)1, 2, 9 Turner G.... Gecz J. (2002)
    6. Human ARX gene: genomic characterization and expression. (PubMed id 12359145)1, 2, 9 Ohira R.H.... McCabe E. (2002)
    7. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. (PubMed id 12379852)1, 2, 9 Kitamura K.... Morohashi K. (2002)
    8. Mutation screening of the ARX gene in patients with autism. (PubMed id 17044103)1, 4 Chaste P....Betancur C. (2007)
    9. MRX87 family with Aristaless X dup24bp mutation and i mplication for polyAlanine expansions. (PubMed id 17480217)1, 3 Laperuta C....Miano M.G. (2007)
    10. Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. (PubMed id 14722918)1, 2 Kato M....Dobyns W.B. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 170302 HGNC: 18060 AceView: ARX Ensembl:ENSG00000004848 euGenes: HUgn170302
    ECgene: ARX H-InvDB: ARX

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ARX Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ARX Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ARX

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ARX gene:
    Search GeneIP for patents involving ARX

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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