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Aliases for RAX Gene

Aliases for RAX Gene

  • Retina And Anterior Neural Fold Homeobox 2 3 5
  • Retina And Anterior Neural Fold Homeobox Protein 3 4
  • RX 3 4
  • MCOP3 3

External Ids for RAX Gene

Previous GeneCards Identifiers for RAX Gene

  • GC18M056767
  • GC18M056909
  • GC18M056720
  • GC18M055083
  • GC18M055084
  • GC18M055085
  • GC18M053643

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 dystonia 16. GO annotations related to this gene include RNA polymerase II core promoter proximal region sequence-specific DNA binding and transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding. An important paralog of this gene is PRRX2.

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

Regulatory Elements for RAX Gene

Genomic Location for RAX Gene

Chromosome:
18
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

Genes around RAX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAX Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RAX Gene

Domains & Families for RAX Gene

Gene Families for RAX Gene

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

Human Phenotype Ontology for RAX Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RAX Gene

MGI Knock Outs for RAX:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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

No data available for Gene Ontology (GO) - Cellular Components for RAX Gene

Pathways & Interactions 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:0007420 brain development IEA --
GO:0007601 visual perception IEA,TAS --
GO:0043010 camera-type eye development IEA --
genes like me logo Genes that share ontologies with RAX: view

No data available for Pathways by source and SIGNOR curated interactions for RAX Gene

Drugs & Compounds for RAX Gene

No Compound Related Data Available

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

This gene is overexpressed in Pituitary (x31.9) and Skin - Not Sun Exposed (Suprapubic) (x4.2).

Protein differential expression in normal tissues from HIPED for RAX Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with RAX: view

Protein tissue co-expression partners for RAX Gene

Primer Products

In Situ Assay Products

Orthologs for RAX Gene

This gene was present in the common ancestor of animals.

Orthologs for RAX Gene

Organism Taxonomy Gene Similarity Type Details
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
chimpanzee
(Pan troglodytes)
Mammalia RAX 35
  • 99.23 (n)
  • 99.71 (a)
RAX 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rax 35
  • 84.16 (n)
  • 86.51 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 69 (a)
ManyToMany
-- 36
  • 16 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 58 (a)
ManyToMany
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 rx3 35
  • 59.25 (n)
  • 57.88 (a)
rx2 36
  • 49 (a)
ManyToMany
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

(3) 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
rs2271733 - 59,273,075(-) AAGGA(A/C)GACGG reference, missense
VAR_034905 Microphthalmia, isolated, 3 (MCOP3)
VAR_075630 -
VAR_075631 -
VAR_075632 -

Variation tolerance for RAX Gene

Gene Damage Index Score: 8.12; 84.58% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(7) MalaCards diseases for RAX Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microphthalmia, isolated 3
  • isolated clinical anophthalmia
dystonia 16
  • dyt16
rax-related anophthalmia/microphthalmia
isolated microphthalmia
  • microphthalmia, isolated 6
microphthalmia
  • microphthalmos
- elite association - COSMIC cancer census association via MalaCards
Search RAX in MalaCards View complete list of genes associated with diseases

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, ECO:0000269 PubMed:24033328}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RAX

Genetic Association Database (GAD)
RAX
Human Genome Epidemiology (HuGE) Navigator
RAX
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAX
genes like me logo Genes that share disorders with RAX: view

No data available for Genatlas for RAX Gene

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 67
  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
  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. Derivation of human differential photoreceptor-like cells from the iris by defined combinations of CRX, RX and NEUROD. (PMID: 22558175) Seko Y. … Umezawa A. (PLoS ONE 2012) 3
  5. RAX and anophthalmia in humans: evidence of brain anomalies. (PMID: 22736936) Abouzeid H. … Schorderet D.F. (Mol. Vis. 2012) 3

Products for RAX Gene

Sources for RAX Gene

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