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FLASH GENE
Symbol CRX contributors: mct/npt - updated : 06-04-2016
HGNC name cone-rod homeobox
HGNC id 2383
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • amino terminus helix-turn-helix homeodomain
  • a paired DNA binding domain, WSP motifs and OTX tail
  • two activation domains AD1 and AD2
    • HOMOLOGY
    interspecies homolog to Drosophila orthodenticle (Otx)
    homolog to murine crx
    Homologene
    FAMILY
  • paired homeobox family
    • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • photoreceptor (cone, rod), binding and transactivating rhodopsin
  • transcriptional regulation of the photoreceptor genes, in concert with NR2E3
  • maintenance of the retina
  • having a critical role for general photoreceptor maturation in both rods and cones (Langmann 2008)
  • controls retinal expression of the X-linked juvenile retinoschisis (RS1) gene (Langmann 2008)
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    text involved in the developemment of cntral nervous system and eye
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
    INTERACTION
    DNA binding to the locus control region of the cone pigment cluster LCR-RGCP@
    RNA
    small molecule
    protein
  • required with NRL for transcriptional activity of PDE6A
  • functional synergy with SP4, SP1, and SP3
  • interacting with NR2E3
  • transcription dysregulation associated with SCA7 cone-rod dystrophy retinal degeneration
  • crucial transcriptional regulator of RS1 expression in the retina which strongly induces the RS1 proximal promoter
    • (Langmann 2008)
  • CRX, OTX2, and RORB directly regulate NRL transcription by binding to critical sites within the NRL promoter
  • KCNV2 is controlled by cone-rod homeobox (CRX) and neural retina leucine zipper (NRL)
  • MEF2D achieves specificity by cooperating with a retina-specific factor CRX, which recruits MEF2D away from canonical MEF2 binding sites
    • cell & other
    REGULATION
    activated by TH (Liu 2007)
    ASSOCIATED DISORDERS
    corresponding disease(s) CORD2 , LCA7
    related resource Retinal Information Network
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS