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FLASH GENE
Symbol NR2F1 contributors: npt/mct/shn - updated : 12-03-2014
HGNC name nuclear receptor subfamily 2, group F, member 1
HGNC id 7975
Corresponding disease
OAID optic atrophy with intellectual disability.
Location 5q15      Physical location : 92.919.042 - 92.929.778
Synonym name
  • COUP transcription factor 1
  • COUP transcription factor I
  • COUP-TF I
  • COUP-TF1
  • V-erbA-related protein 3
  • chicken ovalbumin upstream promoter-transcription factor I
  • transcription factor COUP 1 (chicken ovalbumin upstream promoter 1, v-erb-a homolog-like 3)
  • Synonym symbol(s) COUP-TFI, EAR-3, EAR3, ERBAL3, NR2F2, SVP44, TCFCOUP1, TFCOUP1
    DNA
    TYPE functioning gene
    STRUCTURE 10.75 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D5S2499 - D5S2100 - NR2F1 - D5S652 - D5S644 - qter
    Physical map
    CETN3 5q14.3 centrin, EF-hand protein, 3 (CDC31 homolog, yeast) LOC153364 5q14.3 similar to metallo-beta-lactamase superfamily protein like (XL884) RPC32 5q14.3 polymerase (RNA) III (DNA directed) (32kD) LOC116068 5q14.3 hypothetical protein LOC116068 MASS1 5q14.1 monogenic, audiogenic seizure susceptibility 1 homolog (mouse) LOC133790 5q14.3 similar to ribosomal protein S18, cytosolic [validated] - rat KIAA1376 LOC133789 5q14.3 similar to Rab5c protein LOC391810 5 similar to T-complex protein 1, eta subunit (TCP-1-eta) (CCT-eta) (HIV-1 Nef interacting protein) LOC391811 5 similar to DNA polymerase delta subunit 2 NR2F1 5q14 nuclear receptor subfamily 2, group F, member 1 LOC389309 5 LOC389309 DKFZP564D172 5q15 hypothetical protein DKFZp564D172 FLJ25680 5q15 hypothetical protein FLJ25680 FLJ12078 5q15 hypothetical protein FLJ12078 KIAA0825 5q15 KIAA0825 protein MGC34713 5q15 hypothetical protein MGC34713 DKFZp761C121 5q15 hypothetical protein DKFZp761C121 FLJ22344 5q15 hypothetical protein FLJ22344 LOC389310 5 LOC389310 FLJ25333 5q15 hypothetical protein FLJ25333 KIAA0372 5q13-q15 hypothetical protein FLJ25333 DKFZp313G1735 5q15 hypothetical protein DKFZp313G1735 LOC285601 5q15 seven transmembrane helix receptor LOC285601 LOC317671 5q15 LOC317671 SPATA9 5q15 spermatogenesis associated 9 RHOBTB3 5q21.2 Rho-related BTB domain containing 3 GLRX 5q14 glutaredoxin (thioltransferase) FIS 5q15 FIS ELL2 1q21-q25 elongation factor, RNA polymerase II, 2 PCSK1 5q15-q21 proprotein convertase subtilisin/kexin type 1 LOC389311 5 LOC389311 CAST 5q15-q21 calpastatin ARTS-1 5q15 type 1 tumor necrosis factor receptor shedding aminopeptidase regulator
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 3210 46 423 - 2010 20007910
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineadrenal gland    
     adrenal glandmedulla   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal modulating domain
  • a central bipartite zinc finger
  • DNA binding domain
  • a C terminal ligand domain
  • HOMOLOGY
    interspecies ortholog to Nr2f1, Mus musculus
    ortholog to Nr2f1, Rattus norvegicus
    ortholog to NR2F1, Pan troglodytes
    Homologene
    FAMILY
  • steroid/thyroid hormone receptor superfamily
  • steroid receptor superfamily
  • CATEGORY regulatory , transcription factor , protooncogene , receptor nuclear
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • nuclear receptor involved in the organogenesis
  • required for the formation of commissural projections in the forebrain by regulating axonal growth (Armentano 2006)
  • orphan nuclear receptor promoting ventral cortical fate, cell cycle exit and neural differentiation, regulating the balance of early- and late-born neurons, and the balanced production of different types of layer V cortical projection neurons (Faedo 2008)
  • action regulation of the transcription of GNRH1
  • transcription factor binded to the ovalbumin promoter and, in conjunction with another protein stimulating initiation of transcription
  • central role in the induction of the TNFAIP8 promoter by TNFalpha (Zhang 2009)
  • with NR2F2 play roles in amacrine cell differentiation (Inoue 2010)
  • controls the timing of birth and specification of corticospinal motor neurons (CSMN) in somatosensory cortex via repression of a CSMN differentiation program (Tomassy 2010)
  • exerts critical areal and temporal control over the precise differentiation of corticospinal motor neurons during corticogenesis, thereby enabling the area-specific functional features of motor and sensory areas to arise (Tomassy 2010)
  • directly represses Rnd2 expression at the post-mitotic level along the rostrocaudal axis of the mouse neocortex
  • modulates late-born neuron migration and favours proper differentiation of late-born callosal projection neurons by finely regulating Rnd2 expression levels
  • suppresses synergistic activation of the MTTP promoter by HNF4A/HNF1A by binding to a direct repeat 1 (DR1) element
  • regulator of cortical development known to collaborate with retinoic acid (RA) signaling in other systems
  • role in the adult brain as a key regulator in the control of sensory-dependent plasticity in olfactory dopaminergic neurons
  • has an important role in the development of the visual system and that haploinsuffiency can lead to optic atrophy with intellectual impairment
  • CELLULAR PROCESS nucleotide, replication
    PHYSIOLOGICAL PROCESS
    text neurotransmitter receptor
    PATHWAY
    metabolism
    signaling
    a component novel NR2FI complex with TNFAIP8 that functions as a repressor of transcription and may play a role in the TNFalpha signaling pathways (Zhang 2009)
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • retinoid X receptor, RXR
  • S300-II/TFIIB
  • Sp1
  • estrogen receptor, ER
  • Alien
  • aryl hydrocarbon receptor, AHR
  • GRIP1 and SRC-1
  • human estrogen receptor alpha, hER alpha
  • Thyroid hormone receptor, TR
  • NR2F1 and ERN2 suppress MTTP expression and lipoprotein assembly in undifferentiated intestinal epithelial cell
  • may be an important factor to modulate expression of genes that are repressed by T(3)
  • expression of RND2, a modulator of radial migration, is complementary to both these gradients and strongly increases in the absence of NR2F1 function
  • involved in the regulatory modulation of the expression of at least two genes, CYP26A1 and HOXA1
  • cell & other
    REGULATION
    activated by transcriptionally activated by all-trans retinoic acid (RA)
    ASSOCIATED DISORDERS
    corresponding disease(s) OAID
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • COUP-TFI mutant mice late-born callosal projection neurons are delayed in reaching the cortical plate and have morphological defects during migration
  • axonal elongation and dendritic arborization are impaired in late-born callosal projection neurons of mouse COUP-TFI-deficient