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FLASH GENE
Symbol CRX contributors: mct/npt - updated : 06-04-2016
HGNC name cone-rod homeobox
HGNC id 2383
Corresponding disease
CORD2 retinal cone-rod dystrophy 2
LCA7 Leber congenital amaurosis, type 7
Location 19q13.32      Physical location : 48.325.098 - 48.346.584
Synonym name
  • photoreceptor (cone,rod) specific paired-like homeo domain protein
  • orthodenticle homeobox 3
  • Synonym symbol(s) RHDP3, OTX, CRD,, OTX3
    DNA
    TYPE functioning gene
    STRUCTURE 21.49 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    text structure OTX/CRX and SP1/AP2 binding sites
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 4482 - 299 - Sohocki (1998)
    - polyA site 2439 - - - Hodges
    also called CRX-A2
    - splicing 2583 - - - Hodges
    also called CRX-A3
    - splicing 2676 - - - Hodges
    also called CRX-A4
    - splicing 2366 - - - Hodges
    also called CRX-A5
    - splicing 3590 - - - Hodges
    also called CRX-B1
    - splicing 3454 - - - Hodges
    also called CRX-B2
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    Visualeyeretina   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningretinal pigment epithelium (RPE)  
    Epithelialsensoryvisualinner nuclear layer 
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervouspinealocyte
    Visualcone photoreceptor
    Visualrod photoreceptor
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text eye, choroid, lens, retina, anterior segment
    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