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FLASH GENE
Symbol RAX contributors: mct/npt - updated : 03-04-2018
HGNC name retina and anterior neural fold homeobox
HGNC id 18662
Corresponding disease
MCOP3 microphthalmia congenital 3
Location 18q21.31      Physical location : 56.934.268 - 56.940.625
Synonym name retinal homeobox protein
Synonym symbol(s) RX, MCOP3
DNA
TYPE functioning gene
STRUCTURE 6.36 kb     3 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 3197 36.8 346 - 1997 9177348
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   lowly
Visualeyeretina   
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousoptic nerve
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text eyes, lens, anterior segment, optic nerve, retina foveal and macular, RPE and choroid
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a highly conserved paired-like homeodomain
  • an octopeptide typical of this homeo box gene subfamily
  • one OAR domain
  • HOMOLOGY
    interspecies homolog to rattus Rax
    ortholog to murine Rax
    Homologene
    FAMILY
  • paired homeobox family
  • bicoid subfamily
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • playing a critical role in eye formation by regulating the initial specification of retinal cells and/or their subsequent proliferation
  • essential for vertebrate eye development
  • its function is required for the specification and maintenance of retinal progenitor cells
  • is also necessary during retinal regeneration
  • potentially contributes to phenotype maintenance in the mature retina and pineal gland
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text eye development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with embryonic enhancer locus for photoreceptor OTX2 transcription to transactivate OTX2, mainly in the final cell cycle of retinal progenitors
  • LHX2 is a key intrinsic regulator of tanycyte differentiation, sustaining RAX-dependent activation of tanycyte-specific genes while also inhibiting expression of ependymal cell-specific genes
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MCOP3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS