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RAX Gene

protein-coding   GIFtS: 54
GCID: GC18M056909

Retina And Anterior Neural Fold Homeobox

  See RAX-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000018.9  NC_018929.2  NT_010966.15  
Regulatory elements:
   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 Chromatin IP Primers for RAX

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RX_HUMAN, Q9Y2V3 (See protein sequence)
Recommended Name: Retinal homeobox protein Rx  
Size: 346 amino acids; 36676 Da
Secondary accessions: Q86V11
Alternative splicing: 2 isoforms:  Q9Y2V3-1   Q9Y2V3-2   

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

Explore proteomics data for RAX at MOPED


See RAX Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

RAX Human Recombinant Protein Products:

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OriGene Protein Over-expression Lysate for RAX
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Novus Biologicals RAX Lysate
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Browse Sino Biological Cell Lysates
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Cloud-Clone Corp. Proteins for RAX

 
Search eBioscience for Proteins for RAX 

RAX Antibody Products:

EMD Millipore Mono- and Polyclonal Antibodies for the study of RAX
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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

RAX Assay Products:

Browse Kits and Assays available from EMD Millipore
OriGene Custom Assay Services for RAX
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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
Search eBioscience for ELISAs for RAX 


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

4 InterPro protein domains:
 IPR003654 OAR_dom
 IPR017970 Homeobox_CS
 IPR001356 Homeobox_dom
 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


Find genes that share domains with RAX           About GenesLikeMe


(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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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:    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--
     
Find genes that share ontologies with RAX           About GenesLikeMe


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

Find genes that share phenotypes with RAX           About GenesLikeMe

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

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RAX
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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:
    
miRTarBase miRNAs that target RAX:
hsa-mir-29b-3p (MIRT007011)

Block miRNA regulation of human, mouse, rat RAX using miScript Target Protectors
3 qRT-PCR 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:
    
OriGene RNAi products in human, mouse, rat for RAX
Predesigned siRNA for gene silencing in human, mouse, rat RAX

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

Clone
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OriGene ORF clones in mouse, rat for RAX
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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
Browse ESI BIO Cell Lines and PureStem Progenitors for RAX 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAX


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
RX_HUMAN, Q9Y2V3: Nucleus
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus5

Gene Ontology (GO): 1 cellular component term:    About this table

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

Find genes that share ontologies with RAX           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for RAX About    
See pathways by source

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



    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RAX
Interactions:

    GeneGlobe Interaction Network for RAX

STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

Selected Interacting proteins for RAX (Q9Y2V33 ENSP000003348134) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
InteractantInteraction Details
GeneCardExternal ID(s)
PAX6P263673, ENSP000003684014I2D: score=3 STRING: ENSP00000368401
ALX4Q9H1613I2D: score=1 
SYNCRIPENSP000003586354STRING: ENSP00000358635
PRPSAP1ENSP000004146244STRING: ENSP00000414624
GCH1ENSP000003788904STRING: ENSP00000378890
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Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

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

Find genes that share ontologies with RAX           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for 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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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:
     
Block miRNA regulation of human, mouse, rat RAX using miScript Target Protectors
3 qRT-PCR 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:
     
OriGene RNAi products in human, mouse, rat for RAX
Predesigned 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
Primer
Products:
    
OriGene qSTAR qPCR primer pairs in human, mouse for RAX
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RAX
  QuantiTect SYBR Green Assays in human, mouse, rat RAX
  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:

BM667402 BM695697 BM677614 BM695638 CA393092 BM666522 BM698126 BU741521 
BM698477 BC051901 BM725179 BU726856 BM671128 AF115392 NM_013435 BM678194 
BM667289 BM727843 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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RAX expression in normal human tissues (normalized intensities)
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
 selected tissues (see all 9) fully expand
 
 Eye (Sensory Organs)    fully expand to see all 20 entries
         Early Retinal Progenitor Cells Retinal Neuroblastic Layer
         Retina
         Floating retinal precursors
         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
         Midbrain   
 
 Neural Tube (Nervous System)    fully expand to see all 4 entries
         Diencephalon
         Neural rosettes
         brain/midbrain/lateral wall   
 
 NULL (Sensory Organs)    fully expand to see all 4 entries
         Retinal progenitor-like cells
         Human Retinal Pigment Epithelial Cells (HRPEpiC)   
 
 Epithelial Cells (Uncategorized)    fully expand to see all 3 entries
         Human Lens Epithelial Cells (HLEpiC)   
RAX Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

RAX Protein Expression

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

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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)
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This gene was present in the common ancestor of animals.

Orthologs for RAX gene from Selected species (see all 16)    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 84.8(n)1
87.13(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 75.87(n)
71.11(a)
  100677794  NM_001243724.1  NP_001230653.1 
lizard
(Anolis carolinensis)
Reptilia --
--
62(a)
1 → many
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 
worm
(Caenorhabditis elegans)
Secernentea ceh-86
Protein CEH-8 (ceh-8) mRNA, complete cds
30(a)
1 → many
I(8245722-8250896) WBGene00000433


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)
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Paralogs for RAX gene
ALX12  PHOX2B2  ARX2  DRGX2  SHOX22  PRRX12  PHOX2A2  ALX42  
ISX2  RAX22  ALX32  SHOX2  OTP2  PRRX22  
3 SIMAP similar genes for RAX using alignment to 2 protein entries:     RX_HUMAN (see all proteins):
PRRX1    PRRX2    POU6F1

Find genes that share paralogs with RAX           About GenesLikeMe



(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for RAX (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
Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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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

  • 10 diseases for RAX:    
    About MalaCards
    rax-related anophthalmia/microphthalmia    microphthalmia, isolated 3    anophthalmia/microphthalmia    microphthalmia, isolated 2
    dystonia 16    cardiofaciocutaneous syndrome 2    coloboma    microphthalmia
    cardiofaciocutaneous syndrome    adenoid cystic carcinoma

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

    Find genes that share disorders with RAX           About GenesLikeMe

    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)
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    PubMed articles for RAX gene, integrated from 10 sources (see all 21):
    (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. (Hum. Mol. Genet. 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. (J. Biol. Chem. 2000)
    3. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PubMed id 21697133)1, 2 Oshikawa M.... Kato S. (Invest. Ophthalmol. Vis. Sci. 2011)
    4. Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases. (PubMed id 20494911)1, 4 Gonzalez-Rodriguez J....Zenteno J.C. (Br J Ophthalmol 2010)
    5. Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma. (PubMed id 20057906)1, 4 Zhang X....Zhang Q. (Mol. Vis. 2009)
    6. Regulation of eye formation by the Rx and pax6 homeobox genes. (PubMed id 10766016)1, 3 Mathers P.H. and Jamrich M. (Cell. Mol. Life Sci. 2000)
    7. Derivation of human differential photoreceptor-like cells from the iris by defined combinations of CRX, RX and NEUROD. (PubMed id 22558175)1 Seko Y....Umezawa A. (PLoS ONE 2012)
    8. RAX and anophthalmia in humans: evidence of brain anomalies. (PubMed id 22736936)1 Abouzeid H....Schorderet D.F. (Mol. Vis. 2012)
    9. Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia. (PubMed id 21203406)4 Desmaison A....Chassaing N. (Mol. Vis. 2010)
    10. Mutations in the newly identified RAX regulatory sequence are not a frequent cause of micro/anophthalmia. (PubMed id 19397404)1 Chassaing N....Calvas P. (Genet Test Mol Biomarkers 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)
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    Entrez Gene: 30062 HGNC: 18662 AceView: RAX Ensembl:ENSG00000134438 euGenes: HUgn30062
    ECgene: RAX H-InvDB: RAX

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RAX Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=RAX[genesymbol]

    (Patent information from GeneIP,
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