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Aliases for RAX Gene

Aliases for RAX Gene

  • Retina And Anterior Neural Fold Homeobox 2 3
  • RX 3 4 6
  • Retina And Anterior Neural Fold Homeobox Protein 3 4
  • MCOP3 3 6
  • Retinal Homeobox Protein Rx 3

External Ids for RAX Gene

Summaries for RAX Gene

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 microphthalmia, isolated 3 and rax-related anophthalmia/microphthalmia. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is PHOX2B.

UniProtKB/Swiss-Prot for RAX Gene

  • 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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAX Gene

Genomics for RAX Gene

Genomic Location for RAX Gene

Start:
59,267,035 bp from pter
End:
59,274,086 bp from pter
Size:
7,052 bases
Orientation:
Minus strand

Genomic View for RAX Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RAX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAX Gene

Regulatory Elements for RAX Gene

Proteins for RAX Gene

  • Protein details for RAX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2V3-RX_HUMAN
    Recommended name:
    Retinal homeobox protein Rx
    Protein Accession:
    Q9Y2V3
    Secondary Accessions:
    • Q86V11

    Protein attributes for RAX Gene

    Size:
    346 amino acids
    Molecular mass:
    36676 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RAX Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAX Gene

Proteomics data for RAX Gene at MOPED

Post-translational modifications for RAX Gene

No Post-translational modifications

Other Protein References for RAX Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RAX Gene

Domains for RAX Gene

Gene Families for RAX Gene

HGNC:
  • PRD :Homeoboxes / PRD class

Protein Domains for RAX Gene

Suggested Antigen Peptide Sequences for RAX Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y2V3

UniProtKB/Swiss-Prot:

RX_HUMAN
Domain:
  • Contains 1 homeobox DNA-binding domain.:
    • Q9Y2V3
Family:
  • Belongs to the paired homeobox family. Bicoid subfamily.:
    • Q9Y2V3
genes like me logo Genes that share domains with RAX: view

Function for RAX Gene

Molecular function for RAX Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for RAX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 10625658
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA 10625658
GO:0003677 DNA binding --
genes like me logo Genes that share ontologies with RAX: view
genes like me logo Genes that share phenotypes with RAX: view

Animal Models for RAX Gene

MGI Knock Outs for RAX:

miRNA for RAX Gene

miRTarBase miRNAs that target RAX

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for RAX Gene

Localization for RAX Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAX Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RAX Gene COMPARTMENTS Subcellular localization image for RAX gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for RAX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with RAX: view

Pathways for RAX Gene

SuperPathways for RAX Gene

No Data Available

Interacting Proteins for RAX Gene

Gene Ontology (GO) - Biological Process for RAX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0007389 pattern specification process IEA --
GO:0007420 brain development --
GO:0007601 visual perception TAS 10625658
GO:0021854 hypothalamus development IEA --
genes like me logo Genes that share ontologies with RAX: view

No data available for Pathways by source for RAX Gene

Transcripts for RAX Gene

mRNA/cDNA for RAX Gene

Unigene Clusters for RAX Gene

Retina and anterior neural fold homeobox:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RAX Gene

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

Relevant External Links for RAX Gene

GeneLoc Exon Structure for
RAX
ECgene alternative splicing isoforms for
RAX

Expression for RAX Gene

mRNA expression in normal human tissues for RAX Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RAX Gene

This gene is overexpressed in Pituitary (31.9) and Skin - Not Sun Exposed (Suprapubic) (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for RAX Gene

SOURCE GeneReport for Unigene cluster for RAX Gene Hs.278957

mRNA Expression by UniProt/SwissProt for RAX Gene

Q9Y2V3-RX_HUMAN
Tissue specificity: Expressed in the developing eye and weakly expressed in the adult retina
genes like me logo Genes that share expressions with RAX: view

Orthologs for RAX Gene

This gene was present in the common ancestor of animals.

Orthologs for RAX Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAX 35
  • 99.23 (n)
  • 99.71 (a)
RAX 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RAX 35
  • 87.67 (n)
  • 88.73 (a)
RAX 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAX 35
  • 81.87 (n)
  • 78.95 (a)
RAX 36
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rax 35
  • 84.8 (n)
  • 87.13 (a)
Rax 16
Rax 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 69 (a)
ManyToMany
-- 36
  • 16 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 58 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Rax 35
  • 84.16 (n)
  • 86.51 (a)
chicken
(Gallus gallus)
Aves RAX 35
  • 75.87 (n)
  • 71.11 (a)
RX1 36
  • 61 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 62 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia rax 35
  • 61.11 (n)
  • 62.96 (a)
zebrafish
(Danio rerio)
Actinopterygii rx2 36
  • 49 (a)
ManyToMany
rx3 35
  • 59.25 (n)
  • 57.88 (a)
fruit fly
(Drosophila melanogaster)
Insecta Rx 37
  • 96 (a)
worm
(Caenorhabditis elegans)
Secernentea ceh-8 36
  • 30 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14217 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 23 (a)
OneToMany
Species with no ortholog for RAX:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RAX Gene

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

Paralogs for RAX Gene

Paralogs for RAX Gene

Selected SIMAP similar genes for RAX Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with RAX: view

Variants for RAX Gene

Sequence variations from dbSNP and Humsavar for RAX Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type MAF
rs478130 -- 59,271,245(+) AGTCT(A/G)CTTTG intron-variant
rs555415 -- 59,269,863(+) CTGTT(C/T)CCAAC intron-variant
rs1517033 -- 59,270,505(-) CTGGT(A/G)GTAAA intron-variant
rs1517034 -- 59,270,257(-) GCAGA(C/T)ATTAA intron-variant
rs2271732 -- 59,273,242(-) TCTCC(A/G)TCTCC utr-variant-5-prime

Relevant External Links for RAX Gene

HapMap Linkage Disequilibrium report
RAX
Human Gene Mutation Database (HGMD)
RAX

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for RAX Gene

Disorders for RAX Gene

(1) OMIM Diseases for RAX Gene (601881)

UniProtKB/Swiss-Prot

RX_HUMAN
  • 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. {ECO:0000269 PubMed:14662654}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for RAX Gene

Relevant External Links for RAX

GeneTests
RAX
GeneReviews
RAX
Genetic Association Database (GAD)
RAX
Human Genome Epidemiology (HuGE) Navigator
RAX
genes like me logo Genes that share disorders with RAX: view

Publications for RAX Gene

  1. Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. (PMID: 14662654) Voronina V.A. … Mathers P.H. (Hum. Mol. Genet. 2004) 2 3 4 23
  2. Both PCE-1/RX and OTX/CRX interactions are necessary for photoreceptor-specific gene expression. (PMID: 10625658) Kimura A. … Shinohara T. (J. Biol. Chem. 2000) 2 3 4
  3. Regulation of eye formation by the Rx and pax6 homeobox genes. (PMID: 10766016) Mathers P.H. … Jamrich M. (Cell. Mol. Life Sci. 2000) 2 3
  4. Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases. (PMID: 20494911) Gonzalez-Rodriguez J. … Zenteno J.C. (Br J Ophthalmol 2010) 3 48
  5. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PMID: 21697133) Oshikawa M. … Kato S. (Invest. Ophthalmol. Vis. Sci. 2011) 3 4

Products for RAX Gene

Sources for RAX Gene

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