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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
 Explore 11 diseases affiliated with
RAX via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for RAX    

Aliases
for RAX gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Retina And Anterior Neural Fold Homeobox1 2
RX1 2 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


Summaries
for RAX gene

(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:
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)

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




Genomic Views
for RAX 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.1  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 plasmid: RAX 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

Proteins
for RAX gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y2V3

    • RAX Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_038463.2  
    ENSEMBL proteins: 
     ENSP00000256852   ENSP00000334813   ENSP00000450583  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: RAX
    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 ProSpec Recombinant Proteins
    Uscn 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
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    Novus Biologicals RAX Antibodies
    Search for Antibodies for RAX at Abcam  
    Uscn Antibodies for RAX
    ThermoFisher Antibodies for RAX

    Assay Products for RAX: 
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    Uscn ELISAs and CLIAs for RAX

    Protein Domains /
    Families
    for RAX gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    RAX for domains           About GeneDecksing

    4 InterPro domains/families:
     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 family: 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


    Function
    for RAX gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
    Products:            		Browse 3'-UTR reporter clones for miRNA target validation
    Browse MicroRNA Expression Plasmids
    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 plasmid: RAX 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RAX (see all 7)
    OriGene shRNA RFP: RAX
    OriGene siRNA: RAX
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RAX

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for RAX

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RAX (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, 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 

    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

    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


    Animal Models:
         Mouse knock-outs for RAX: Raxtm1Mjam Raxtm1.2Lwd
         8 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Rax):
     behavior/neurological  craniofacial  digestive/alimentary  embryogenesis  mortality/aging 
     nervous system  normal  vision/eye 

    RAX for phenotypes           About GeneDecksing


    Pathways & Interactions
    for RAX gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Selected targets of HNF1
    		Selected targets of HNF11.00

    Pathway sources
    See GeneCards unified pathways
    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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0007389pattern specification process IEA--
    GO:0007420brain development ----
    GO:0007601visual perception TAS10625658
    GO:0021854hypothalamus development IEA--


    RAX for ontologies           About GeneDecksing



    Drugs & Compounds
    for RAX gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    Search CenterWatch for drugs/clinical trials and news about RAX / RX 

    Transcripts
    for RAX gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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:             		Browse 3'-UTR reporter clones for miRNA target validation
    Browse OriGene MicroRNA Expression Plasmids
    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 plasmid: RAX 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RAX (see all 7)
    OriGene shRNA RFP: RAX
    OriGene siRNA: RAX
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RAX
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RAX (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, 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 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RAX
    Browse OriGene validated miRNA SYBR primer pairs
    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 cDNA sequence: 

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

    3 DOTS entries:

    DT.91751344  DT.97833968  DT.97796456 

    24 AceView cDNA sequences:

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

    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

    Expression
    for RAX gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTTGTTTTGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    RAX expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    8 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeInner Nuclear LayerMuller Glia Precursor CellsMuller Glia, Retina
    EyeNeuroblastic LayerEarly Retinal Progenitor CellsRetina
    EyeNeuroblastic LayerLate Retinal Progenitor CellsRetina
    EyeOuter Nuclear LayerMature Rod CellsPhotoreceptors, Retina
    BrainHypothalamusBrain
    EyeRetinaEye
    Neural TubeDiencephalic Ventricular ZoneNeural Tube
    Neural TubeDiencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/14 LifeMap Cells (see all 14) 
    NameCategory
    Optic cup structures (Generation of strati...)
    Neural retina aggregates (Generation of strati...)
    Embryoid bodies-like aggregates (Generation of retina...)
    Optic cup (Generation of retina...)
    Retinal progenitor-like cells (Generation of retina...)
    Pigmented epithelium cell clusters (Direct differentiati...)
    Neural rosettes (Generation of photor...)
    Retinal progenitor cells (Generation of retina...)
    Rx-GFP+ cells (Generation of retina...)
    Floating retinal precursors (Generation of retina...)

    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
    for RAX gene

    (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 6/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 57(a)
    		 possible ortholog
    		 GL343335.1(1042443-1058395)
    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
    unc-46
    		 Homeobox protein unc-4
    		 19(a)
    17(a)
    		 1 ↔ many
    possible ortholog
    		 I(8245716-8250890)
    II(9897701-9900198)


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

    Paralogs
    for RAX gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RAX gene
    ALX12  PHOX2B2  VSX12  DRGX2  PITX22  PRRX22  PITX12  ARX2  
    PRRX12  PHOX2A2  ISX2  ALX42  VSX22  RAX22  PITX32  ALX32  
    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



    Genomic Variants
    for RAX gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/136 NCBI SNPs in RAX are shown (see all 136)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 18 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048946631,2
    		Cpathogenic56939697(-) CGTACC/TAGCTG 2 Q * stg10--------
    rs752845191,2
    		C,F,--56933811(+) GGATTG/ATGGTG 1 -- ds50011Minor allele frequency- A:0.03WA 118
    rs1462899731,2
    		--56934006(+) AGGGGA/GAGTAG 1 -- ds50010--------
    rs761767331,2
    		--56934091(+) GGGAAA/GTGAAG 1 -- ds50010--------
    rs1810348201,2
    		--56934143(+) GACTGC/TGGTAA 1 -- ds50010--------
    rs455852321,2
    		C,--56934249(+) ATGATA/GGGCCA 1 -- ds50012Minor allele frequency- G:0.10WA 120
    rs99471041,2
    		C,F,A,H,--56934358(+) TGAGGA/GAAAGT 1 -- ut3124Minor allele frequency- G:0.21NS EA NA WA CSA 2762
    rs1177926701,2
    		--56934430(+) GCCTAC/TTGTGT 1 -- ut311Minor allele frequency- T:0.01EA 120
    rs756323601,2
    		C,--56934490(+) AGCCTC/TTTAGA 1 -- ut312Minor allele frequency- T:0.08CSA WA 120
    rs1487534721,2
    		--56934568(+) TTTCCC/GAAGTC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for RAX (56934267 - 56941318 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RAX: --
    Human Gene Mutation Database (HGMD): RAX

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RAX
    DNA2.0 Custom Variant and Variant Library Synthesis for RAX

    Disorders / Diseases
    for RAX gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    RAX for disorders           About GeneDecksing

    OMIM gene information: 601881   
    OMIM disorders: 611038  
    UniProtKB/Swiss-Prot: RX_HUMAN, Q9Y2V3
  • Defects in RAX are the cause of microphthalmia isolated type 3 (MCOP3) [MIM:611038]. Microphthalmia is a
    • clinically heterogeneous 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, cataractand other abnormalities like cataract may also be present

    11 diseases for RAX:    About MalaCards
    anophthalmia    microphthalmia    retinitis    coloboma
    anophthalmia/microphthalmia    microphthalmia, isolated 3    adenoid cystic carcinoma    kartagener syndrome
    adenoiditis    choroiditis    carcinoma

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

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

    Export disorders for RAX gene to outside databases

    Publications
    for RAX gene

    (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 19):
    (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. Regulation of eye formation by the Rx and pax6 homeobox genes. (PubMed id 10766016)1, 3 Mathers P.H. and Jamrich M. (2000)
    4. 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)
    5. RAX and anophthalmia in humans: evidence of brain anom alies. (PubMed id 22736936)1 Abouzeid H....Schorderet D.F. (2012)
    6. 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)
    7. 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 Gonzalez-Rodriguez J....Zenteno J.C. (2010)
    8. Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma. (PubMed id 20057906)1 Zhang X....Zhang Q. (2009)
    9. 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)
    10. Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma. (PubMed id 19158959)1 London N.J....Traboulsi E.I. (2009)

    External Searches for RAX gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Genome Databases showing RAX gene

    (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

    Other Databases showing RAX gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing RAX gene

    (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

    Intellectual Property
    for RAX gene

    (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:
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