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FLASH GENE
Symbol NR2E3 contributors: mct/pgu/shn - updated : 26-09-2011
HGNC name nuclear receptor subfamily 2, group E, member 3
HGNC id 7974
Corresponding disease
ESCS enhanced S cone syndrome
RP37 retinitis pigmentosa 37
Location 15q23      Physical location : 72.102.893 - 72.110.595
Synonym name
  • photoreceptor-specific nuclear receptor
  • photoreceptor cell-specific nuclear receptor
  • retina-specific nuclear receptor
  • Synonym symbol(s) PNR, RNR, rd7, MGC49976
    DNA
    TYPE functioning gene
    STRUCTURE 7.71 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    Map cen - D15S131 - D15S1050 - NR2E3 - D15S204 - D15S197 - qter
    Text [BBS4 ]
    Physical map
    UACA 15q22-q24 uveal autoantigen with coiled-coil domains and ankyrin repeats LOC123397 15q22.32 similar to 60S ribosomal protein L29 (Cell surface heparin binding protein HIP) FLJ11196 15q22.32 acheron LOC390601 15 similar to keratin 8, type II cytoskeletal - human THAP10 15q22.32 THAP domain containing 10 FLJ20156 15q22.32 hypothetical protein FLJ20156 LOC283675 15q22.32 similar to ribosomal protein L5; 60S ribosomal protein L5 LOC196993 15q22.32 hypothetical protein LOC196993 LOC390602 15 similar to High mobility group protein 1 (HMG-1) (Amphoterin) (Heparin-binding protein p30) LOC196994 15q22.32 similar to hypothetical protein LOC388132 15 similar to 60S ribosomal protein L17 (L23) FLJ13710 15q22.33 hypothetical protein FLJ13710 NR2E3 15q24 nuclear receptor subfamily 2, group E, member 3 MYO9A 15q22-q23 myosin IXA PRSC2 15q22.32 protease, cysteine, 2 (NEDD8 specific) LOC196996 15q22.33 hypothetical protein LOC196996 PKM2 15q24-q25 pyruvate kinase, muscle LOC56965 15q22.33 hypothetical protein from EUROIMAGE 1977056 BRUNOL6 15q24 bruno-like 6, RNA binding protein (Drosophila) HEXA 15q23-q24 hexosaminidase A (alpha polypeptide) FLJ13315 15q22.33 hypothetical protein FLJ13315 LOC388133 15 hypothetical gene supported by AK026491; NM_000976 LOC338949 15q22.33 similar to RIKEN cDNA 4930425N13 LOC390603 15 similar to prohibitin ARIH1 15q24 ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila) GOLGA6 15q22.33 golgi autoantigen, golgin subfamily a, member 6 LOC123346 15q22.33 hypothetical protein LOC123346 BBS4 15q22.3-q23 Bardet-Biedl syndrome 4 DKFZP434B195 15q22.33 hypothetical protein DKFZp434B195 NEO1 15q22.3-q23 neogenin homolog 1 (chicken) LOC388134 15 LOC388134 HCN4 15q24-q25 hyperpolarization activated cyclic nucleotide-gated potassium channel 4
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 splicing 2102 39.5 367 - 1999 10220376
    7 exons
    8 splicing 1999 44.6 410 - 1999 10220376
  • 8 exons
  • differing in the 3' UTR and coding region compared to variant 1
  • EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Visualeyeretina  specific
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsensoryvisualouter nuclear layer 
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualrod photoreceptor
    cell lineage
    cell lines Y79 retinoblastoma
    fluid/secretion
    at STAGE
    physiological period fetal
    Text expressed in late retinal progenitors and differentiating photoreceptors of the developing retina
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal modulating domain
  • a bipartite central zinc finger DNA-binding domain including P box for target specificity
  • a C terminal ligand domain involved in dimerization (? T box), unique proximal P box
  • a ligand binding domain
  • mono polymer dimer
    HOMOLOGY
    interspecies ortholog to Nr2e3, Mus musculus
    ortholog to nr2e3, Danio rerio
    ortholog to NR2E3, Pan troglodytes
    intraspecies homolog to TLX receptor
    Homologene
    FAMILY
  • nuclear receptor superfamily 2, goup E
  • orphan receptor family
  • CATEGORY DNA associated , transcription factor , receptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    text
  • coexpressed with CRX by photoreceptors
  • localized to the cell bodies of mature rods and cones
  • basic FUNCTION
  • photoreceptor cell-specific nuclear receptor, involved in determining photoreceptor phenotype during retinogenesis
  • involved in regulating and maintaining the expression of rod photoreceptor-specific genes and may be in transcriptional regulatory network(s) during rod differentiation
  • dual-function transcriptional regulator acting in concert with CRX to promote and maintain the function of rod photoreceptors
  • functioning either directly or indirectly, as a repressor of cone-specific genes in rod photoreceptor cells
  • playing a critical role in establishing functional specificity of neural retina leucine zipper expressing photoreceptor precursors during retinal neurogenesis
  • acting as a negative regulator for cell proliferation of retina neurons
  • playing a key role in the regulation of photoreceptor-specific genes during rod development and maintenance
  • a pivotal role in the differentiation of photoreceptors
  • in postmitotic rods, influences rod cell differentiation, whereas, in late mitotic progenitors, its primary function is to suppress the cone-generation program
  • acting simultaneously in different cell types: in late mitotic progenitors, newly differentiating post mitotic cells, and mature rods and cones
  • photoreceptor-specific nuclear receptor believed to play a role in photoreceptor development, differentiation, and survival
  • dual role in specification of photoreceptor fate during development as well as photoreceptor maintenance in the adult
  • influence the competency of retinal progenitors while simultaneously directing the rod and cone differentiation
  • represses cone-specific genes and activates several rod-specific genes
  • a potential role for NR1D1, in conjunction with its cofactor NR2E3, in regulating transcriptional networks critical for photoreceptor development and function
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • essential component for development and specification of rod and cone photoreceptors
  • INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • cone-rod homeobox, CRX
  • PNR co-repressor Ret-CoR
  • nuclear receptor subfamily 1, group D, member 1, NR1D1 and neural retina leucine zipper, NRL
  • cell & other
    REGULATION
    repressed by a co-repressor, Ret-CoR, that is expressed in the developing retina and brain
    ASSOCIATED DISORDERS
    corresponding disease(s) ESCS , RP37
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • deletion in Nr2e3 leads to retinal dysplasia and degeneration in the rd7 mouse