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FLASH GENE
Symbol RORB contributors: mct - updated : 09-05-2013
HGNC name RAR-related orphan receptor B
HGNC id 10259
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal conserved domain
  • a central bipartite zinc finger with differential DNA binding activities
  • a C terminal ligand binding domain, containing a bound stearate ligand and complexed with a coactivator peptide
    • HOMOLOGY
    intraspecies homolog to RAR orphan receptor B
    Homologene
    FAMILY steroid/thyroid retinoic receptor superfamily
    CATEGORY transcription factor , receptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • retinoid-regulated nuclear receptor, binding all-trans retinoic acid and several other retinoids
  • involved in the processing of sensory information and in the components of circadian timing system (the suprachiasmatic nuclei, retina and pineal gland)
  • may regulate clock responses to photic stimuli at certain time domains
  • directs rod development and does so at least in part by inducing the NRL-mediated pathway of rod differentiation
  • with other trans-acting regulators, helps to initiate the rod differentiation program and might later maintain NRL expression in mature retina
  • FOXN4, RORB and their downstream effector PTF1A, have been shown to be indispensable intrinsic regulators for the differentiation of amacrine and horizontal cells
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS circadian
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA DNA binding
    RNA
    small molecule metal binding,
    Zn2+
    protein
  • interacting with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation
  • OPN1SW is a target gene for RORbeta and suggest a key role for RORbeta in regulating opsin expression in the color visual system
  • NRL is a direct transcriptional target of RORB, suggesting that combinatorial action of multiple regulatory factors modulates the expression of NRL in developing and mature retina
  • CRX, OTX2, and RORB directly regulate NRL transcription by binding to critical sites within the NRL promoter
  • RORB and FOXN4 synergistically induce PTF1A expression, suggesting a central role for RORB in a transcriptional hierarchy that directs this interneuron differentiation pathway
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL9Q21
    Susceptibility to pediatric bipolar disorder
    Variant & Polymorphism SNP
  • four intronic RORB SNPs showed positive associations with the pediatric bipolar disorder
    • Candidate gene RORB is a strong candidate for a neurological phenotype in del 9q21 patients
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Rorb(-/-) mice lacking retinoid-related orphan nuclear receptor beta lose rods but overproduce primitive S cones that lack outer segments
  • Rorbeta-deficient mice fail to induce S opsin appropriately during postnatal cone development
  • Rorb-deficient mice lose expression of pancreas-specific transcription factor 1a (Ptf1a) but retain forkhead box n4 factor (Foxn4), two early-acting factors necessary for amacrine and horizontal cell generation 1