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

RAX Gene

protein-coding   GIFtS: 56
GCID: GC18M056909

Retina And Anterior Neural Fold Homeobox

  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
Retina And Anterior Neural Fold Homeobox1 2
RX2 3 5
Retina And Anterior Neural Fold Homeobox Protein2 3
MCOP32 5
Retinal Homeobox Protein Rx2

External Ids:    HGNC: 186621   Entrez Gene: 300622   Ensembl: ENSG000001344387   OMIM: 6018815   UniProtKB: Q9Y2V33   

Export aliases for RAX gene to outside databases

Previous GC identifers: GC18M056767 GC18M056720 GC18M055083 GC18M055084 GC18M055085 GC18M053643


(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 RAX Gene:
This gene encodes a homeobox-containing transcription factor that functions in eye development. The gene is
expressed early in the eye primordia, and is required for retinal cell fate determination and also regulates stem
cell proliferation. Mutations in this gene have been reported in patients with defects in ocular development,
including microphthalmia, anophthalmia, and coloboma.(provided by RefSeq, Oct 2009)

GeneCards Summary for RAX Gene: 
RAX (retina and anterior neural fold homeobox) is a protein-coding gene. Diseases associated with RAX include rax-related anophthalmia/microphthalmia, and microphthalmia, isolated 3. 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: RX_HUMAN, Q9Y2V3
Function: Plays a critical role in eye formation by regulating the initial specification of retinal cells and/or
their subsequent proliferation. Binds to the photoreceptor conserved element-I (PCE-1/Ret 1) in the photoreceptor
cell-specific arrestin promoter




(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_000018.9  NC_018929.2  NT_025028.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RAX gene promoter:
         Spz1   STAT1   Pax-5   MyoD   STAT1beta   XBP-1   C/EBPalpha   GATA-1   STAT1alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRAX promoter sequence
   Search SABiosciences Chromatin IP Primers for RAX

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


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

Entrez Gene cytogenetic band: 18q21.32   Ensembl cytogenetic band:  18q21.32   HGNC cytogenetic band: 18q21.31

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

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M056909:  view genomic region     (about GC identifiers)

Start:
56,934,267 bp from pter      End:
56,941,318 bp from pter
Size:
7,052 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: RX_HUMAN, Q9Y2V3 (See protein sequence)
Recommended Name: Retinal homeobox protein Rx  
Size: 346 amino acids; 36676 Da
Subcellular location: Nucleus

Explore the universe of human proteins at neXtProt for RAX: NX_Q9Y2V3

Explore proteomics data for RAX at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y2V3

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

    RAX Protein Expression
    REFSEQ proteins: NP_038463.2  
    ENSEMBL proteins: 
     ENSP00000256852   ENSP00000334813   ENSP00000450583  

    Human Recombinant Protein Products for RAX: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for RAX
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for RAX
    GenScript Custom Purified and Recombinant Proteins Services for RAX
    Novus Biologicals RAX Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RAX 

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

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

    RAX for ontologies           About GeneDecksing



    RAX Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of RAX
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for RAX
    GenScript Superior Antibodies for RAX
    Novus Biologicals RAX Antibodies
    Abcam antibodies for RAX
    Cloud-Clone Corp. Antibodies for RAX 
    ThermoFisher Antibodies for RAX
    LSBio Antibodies in human, mouse, rat for RAX 

    Assay Products for RAX: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for RAX
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for RAX
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for RAX 
    Cloud-Clone Corp. CLIAs for RAX


    (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 Q9Y2V3

    ProtoNet protein and cluster: Q9Y2V3

    1 Blocks protein domain: IPB003654 Paired-like homeodomain protein

    UniProtKB/Swiss-Prot: RX_HUMAN, Q9Y2V3
    Similarity: Belongs to the paired homeobox family. Bicoid subfamily
    Similarity: Contains 1 homeobox DNA-binding domain


    RAX 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: RX_HUMAN, Q9Y2V3
    Function: Plays a critical role in eye formation by regulating the initial specification of retinal cells and/or
    their subsequent proliferation. Binds to the photoreceptor conserved element-I (PCE-1/Ret 1) in the photoreceptor
    cell-specific arrestin promoter

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

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


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Rax):
     behavior/neurological  craniofacial  digestive/alimentary  embryogenesis  growth/size 
     mortality/aging  nervous system  normal  vision/eye 

    RAX for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for RAX: Raxtm1Mjam Raxtm1.2Lwd

       inGenious Targeting Laboratory - Custom generated mouse model solutions for RAX 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RAX

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

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RAX
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate RAX:
    hsa-miR-873 hsa-miR-4279 hsa-miR-618
    SwitchGear 3'UTR luciferase reporter plasmidRAX 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for RAX
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RAX

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for RAX
    Sirion Biotech Customized adenovirus for overexpression of RAX

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for RAX (see all 6)
    OriGene ORF clones in mouse, rat for RAX
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript Custom all cDNA clones Services for RAX
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RAX
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAX
    Sirion Biotech Customized lentivirus for stable overexpression of RAX 
                         Customized lentivirus expression plasmids for stable overexpression of RAX 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for RAX
    Search LifeMap BioReagents cell lines for RAX
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAX


    (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

    SuperPaths for RAX About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Selected targets of HNF1
    Selected targets of HNF1

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for RAX
        Selected targets of HNF1




    RAX for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RAX

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/8 Interacting proteins for RAX (Q9Y2V33 ENSP000003348134) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PAX6P263673, ENSP000003684014I2D: score=3 STRING: ENSP00000368401
    ALX4Q9H1613I2D: score=1 
    SYNCRIPENSP000003586354STRING: ENSP00000358635
    PRPSAP1ENSP000004146244STRING: ENSP00000414624
    PRKRAENSP000003181764STRING: ENSP00000318176
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0007389pattern specification process IEA--
    GO:0007420brain development ----
    GO:0007601visual perception TAS10625658

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

    Browse Tocris compounds for RAX (RX)

    Search CenterWatch for drugs/clinical trials and news about RAX / RX

    (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 RAX gene: 
    NM_013435.2  

    Unigene Cluster for RAX:

    Retina and anterior neural fold homeobox
    Hs.278957  [show with all ESTs]
    Unigene Representative Sequence: NM_013435
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000256852 ENST00000334889(uc002lhx.3 uc010dpp.3) ENST00000591550
    ENST00000555288
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RAX
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate RAX:
    hsa-miR-873 hsa-miR-4279 hsa-miR-618
    SwitchGear 3'UTR luciferase reporter plasmidRAX 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for RAX
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RAX
    Clone
    Products:
         
    OriGene clones in human, mouse for RAX (see all 6)
    OriGene ORF clones in mouse, rat for RAX
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript Custom all cDNA clones Services for RAX
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RAX
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAX
    Sirion Biotech Customized lentivirus for stable overexpression of RAX 
                         Customized lentivirus expression plasmids for stable overexpression of RAX 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for RAX
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RAX
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RAX
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RAX

    Additional mRNA sequence: 

    AB593018.1 AF001911.1 AF115392.1 BC051901.1 

    3 DOTS entries:

    DT.91751344  DT.97833968  DT.97796456 

    24 AceView cDNA sequences:

    BM698477 BM677614 CA393092 BM698126 BM666522 BU741521 BC051901 BM695638 
    BM695697 BM667402 NM_013435 AF115392 BM667289 BM678194 BM727843 BM671128 
    BU726856 BM725179 BM723082 AI377059 W79230 BM690328 BM719303 BE782650 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for RAX    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b
    SP1:                              
    SP2:              -               


    ECgene alternative splicing isoforms for RAX

    (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

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


    RAX expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 11 entries
             Early Retinal Progenitor Cells Retinal Neuroblastic Layer
             Retina
             Pigmented epithelium cell clusters ( Direct differentiation of human embryonic stem...
             Human Retinal Pigment Epithelial Cells (HRPEpiC)   
             sensory organ/eye/cornea   
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Thalamus
             N2/LSB/S/F8-induced cells ( Generation of midbrain dopaminergic, forebrain and hypothalamic...
             brain/midbrain/lateral wall   
     
     Epithelium (Uncategorized)    fully expand to see all 3 entries
             Human Iris Pigment Epithelial Cells (HIPEpiC)   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Diencephalon
             brain/midbrain/lateral wall   
     
     Neuron (Nervous System)
             Motor neuron-like cells ( Generation of motor and gamma-aminobutyric acid (GABA)...

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

    SOURCE GeneReport for Unigene cluster: Hs.278957

    UniProtKB/Swiss-Prot: RX_HUMAN, Q9Y2V3
    Tissue specificity: Expressed in the developing eye and weakly expressed in the adult retina

        SABiosciences Custom PCR Arrays for RAX
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RAX
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAX

    (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 RAX gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rax1 , 5 retina and anterior neural fold homeobox1, 5 85.19(n)1
    87.43(a)1
      18 (39.03 cM)5
    194341  NM_013833.21  NP_038861.21 
     261386885 
    chicken
    (Gallus gallus)
    Aves RAX1 retina and anterior neural fold homeobox 77.78(n)
    74.29(a)
      100677794  NM_001243724.1  NP_001230653.1 
    lizard
    (Anolis carolinensis)
    Reptilia RAX6
    retina and anterior neural fold homeobox
    61(a)
    1 ↔ 1
    GL343335.1(1042112-1059344)
    African clawed frog
    (Xenopus laevis)
    Amphibia AF001049.12   -- 73.39(n)    AF001049.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rx32 retinal homeobox gene 3 75.94(n)   30474  AF001909.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rx3 brain development specific RNA
    polymerase II transcription factor less
    96(a)   57B4   --
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-86
    Homeobox protein ceh-8
    24(a)
    1 → many
    I(8245722-8250896)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RAX gene
    ALX12  PHOX2B2  ARX2  DRGX2  PRRX12  SHOX22  PHOX2A2  ALX42  
    ISX2  RAX22  ALX32  SHOX2  OTP2  PRRX22  
    3 SIMAP similar genes for RAX using alignment to 3 protein entries:     RX_HUMAN (see all proteins):
    PRRX1    PRRX2    POU6F1

    RAX 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

    10/179 SNPs in RAX are shown (see all 179)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0349054
    Microphthalmia, isolated, 3 (MCOP3)4--see VAR_0349052 R Q mis40--------
    rs1048946631,2
    Cpathogenic156793749(-) CGTACC/TAGCTG 2 Q * stg10--------
    rs752845191,2
    C,F--56787848(+) GGATTG/ATGGTG 1 -- ds50011Minor allele frequency- A:0.03WA 118
    rs1462899731,2
    --56788043(+) AGGGGA/GAGTAG 1 -- ds50010--------
    rs761767331,2
    F--56788128(+) GGGAAA/GTGAAG 1 -- ds50010--------
    rs1810348201,2
    --56788180(+) GACTGC/TGGTAA 1 -- ds50010--------
    rs455852321,2
    C,F--56788286(+) ATGATA/GGGCCA 1 -- ds50012Minor allele frequency- G:0.10WA 120
    rs99471041,2
    C,F,A,H--56788395(+) TGAGGA/GAAAGT 1 -- ut3124Minor allele frequency- G:0.21NS EA NA WA CSA 2762
    rs1177926701,2
    C,F--56788467(+) GCCTAC/TTGTGT 1 -- ut311Minor allele frequency- T:0.01EA 120
    rs756323601,2
    C--56788527(+) AGCCTC/TTTAGA 1 -- ut312Minor allele frequency- T:0.08CSA WA 120

    HapMap Linkage Disequilibrium report for RAX (56934267 - 56941318 bp)

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

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

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601881   
    OMIM disorders: 611038  
    UniProtKB/Swiss-Prot: RX_HUMAN, Q9Y2V3
  • Microphthalmia, isolated, 3 (MCOP3) [MIM:611038]: A disorder of eye formation, ranging from small size of
    a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea
    and lens, scaring of the retina and choroid, and other abnormalities may also be present. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 12 diseases for RAX:    About MalaCards
    rax-related anophthalmia/microphthalmia    microphthalmia, isolated 3    dystonia 16    coloboma
    adenoid cystic carcinoma    anophthalmia/microphthalmia    kartagener syndrome    microphthalmia
    adenoiditis    retinitis    choroiditis    cataract

    1 disease from the University of Copenhagen DISEASES database for RAX:
    Microphthalmia

    RAX for disorders           About GeneDecksing

    GeneTests: RAX
    GeneReviews: RAX
    Genetic Association Database (GAD): RAX
    Human Genome Epidemiology (HuGE) Navigator: RAX (220 documents)

    Export disorders for RAX 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 RAX gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with RAX)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. (PubMed id 14662654)1, 2, 3, 9 Voronina V.A.... Mathers P.H. (2004)
    2. Both PCE-1/RX and OTX/CRX interactions are necessary for photoreceptor-specific gene expression. (PubMed id 10625658)1, 2, 3 Kimura A....Shinohara T. (2000)
    3. Mutational screening of CHX10, GDF6, OTX2, RAX and SO X2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum ca ses. (PubMed id 20494911)1, 4 Gonzalez-Rodriguez J....Zenteno J.C. (2010)
    4. Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma. (PubMed id 20057906)1, 4 Zhang X....Zhang Q. (2009)
    5. Regulation of eye formation by the Rx and pax6 homeobox genes. (PubMed id 10766016)1, 3 Mathers P.H. and Jamrich M. (2000)
    6. Derivation of human differential photoreceptor-like ce lls from the iris by defined combinations of CRX, RX and NEUROD. (PubMed id 22558175)1 Seko Y....Umezawa A. (2012)
    7. RAX and anophthalmia in humans: evidence of brain anom alies. (PubMed id 22736936)1 Abouzeid H....Schorderet D.F. (2012)
    8. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PubMed id 21697133)1 Oshikawa M.... Kato S. (2011)
    9. Mutations in the LHX2 gene are not a frequent cause o f micro/anophthalmia. (PubMed id 21203406)4 Desmaison A....Chassaing N. (2010)
    10. Mutations in the newly identified RAX regulatory sequ ence are not a frequent cause of micro/anophthalmia. (PubMed id 19397404)1 Chassaing N....Calvas P. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 30062 HGNC: 18662 AceView: RAX Ensembl:ENSG00000134438 euGenes: HUgn30062
    ECgene: RAX H-InvDB: RAX

    (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 RAX Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RAX

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

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



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