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FLASH GENE
Symbol RORB contributors: mct - updated : 09-05-2013
HGNC name RAR-related orphan receptor B
HGNC id 10259
Corresponding disease
DEL9Q21 chromosome 9q21 microdeletions
Location 9q21.13      Physical location : 77.112.251 - 77.302.115
Synonym name
  • nuclear receptor RZR-beta
  • nuclear receptor ROR-beta
  • Synonym symbol(s) RZRB, NR1F2, ROR-BETA, bA133M9.1
    DNA
    TYPE functioning gene
    STRUCTURE 189.87 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC392348 9 similar to CDC91 cell division cycle 91-like 1; GPI transamidase component C9orf63 9q21.2 chromosome 9 open reading frame 63 TMEM2 9q13-q21 transmembrane protein 2 CGI-67 MGC61599 LOC392349 9 similar to Heat shock 27 kDa protein (HSP 27) (Stress-responsive protein 27) (SRP27) (Estrogen-regulated 24 kDa protein) (28 kDa heat shock protein) C9orf57 9q21.2 chromosome 9 open reading frame 57 LOC392350 9 similar to Transcription factor BTF3 (RNA polymerase B transcription factor 3) GDA 9q21.11-21.33 guanine deaminase ZNF216 9q21.11 zinc finger protein 216 TMC1 9q13-q21 transmembrane, cochlear expressed, 1 ALDH1A1 9q21.1 aldehyde dehydrogenase 1 family, member A1 ANXA1 9q13-q21.2 annexin A1 LOC392351 9 similar to tMDC I LOC138971 9q21.31 similar to dipeptidylpeptidase III isoform 1; dipeptidylpeptidase III LOC138972 9q21.31 similar to Centaurin gamma 2 RORB 9q22 RAR-related orphan receptor B TRPM6 9q21.13 transient receptor potential cation channel, subfamily M, member 6 C9orf40 9q21.31 chromosome 9 open reading frame 40 C9orf41 9q21.31 chromosome 9 open reading frame 41 FLJ20559 9q21.31 hypothetical protein FLJ20559 OSTF1 12q24.1-q24.2 osteoclast stimulating factor 1 LOC138932 9q21.31 similar to Hkr1p PCSK5 9q21.3 proprotein convertase subtilisin/kexin type 5 FLJ11149 9q21.31 riboflavin kinase LOC158473 9q21.31 similar to protein 40kD GCNT1 9q13-q21 glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase) LOC392352 9 similar to peptidyl-Pro cis trans isomerase KIAA0367 9q13-q22.1 similar to peptidyl-Pro cis trans isomerase C9orf65 9q21.32 chromosome 9 open reading frame 65 CHAC 9q21 chorea acanthocytosis GNA14 9q21.2 guanine nucleotide binding protein (G protein), alpha 14 GNAQ 9q21 guanine nucleotide binding protein (G protein), q polypeptide LOC138916 9q21.32 synaptogyrin 2 pseudogene LOC158452 9q21.32 similar to argininosuccinate synthetase LOC392353 9 similar to CDC28 protein kinase 2; CKS1(S. cerevisiae Cdc28/Cdc2 kinase subunit) homolog-2 FLJ12643
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 3604 - 459 - 2001 11689423
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainforebraincerebral cortex   Homo sapiens
     braindiencephalonepithalamuspineal glandspecific Homo sapiens
     braindiencephalonhypothalamussuprachiasmatic nucleispecific Homo sapiens
    Visualeyeretina  specific Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Nervouscentral   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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