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Symbol NR2E1 contributors: mct/npt/shn - updated : 09-04-2013
HGNC name nuclear receptor subfamily 2, group E, member 1
HGNC id 7973
Location 6q21      Physical location : 108.487.214 - 108.510.011
Synonym name
  • tailless (Drosophilia) homolog
  • nuclear receptor TLX
  • tailes-related receptor
  • nuclear receptor subfamily 2 group E member 1
  • protein tailless homolog
  • tailes-related receptor; tailless homolog
  • Synonym symbol(s) TLX, TLL, XTLL, Tll
    TYPE functioning gene
    SPECIAL FEATURE head to head
    STRUCTURE 22.80 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    text structure a consensus site, AAGTCA (the TLX-binding site), in the promoter region (Iwahara 2009)
    MAPPING cloned Y linked N status provisional
    Map cen - D6S268 - D6S1635 - NR2E1 - D6S1594 - D6S2431 - qter
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 3271 42 385 - Yokoyama (2008)
    Type restricted
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   specific Drosophila melanogasterFetal
     brainforebrain    Mus musculusAdult
    Visualeyeretina  highly Mus musculusAdult
    SystemCellPubmedSpeciesStageRna symbol
    VisualMuller cell Mus musculusAdultNM_152229
    cell lineage
  • expressed by retinal progenitor cells in the neuroblastic layer during the period of retinal layer formation
  • specific expression in periventricular neural stem cells in embryonic brains
  • cell lines
    at STAGE
    physiological period fetal
    Text developing fore/midbrain neuroepithelium
  • N terminal modulating domain
  • a central zinc finger DNA binding domain containing the discrete P and D boxes critical for target specificity
  • a C terminal ligand domain, including the T and A boxes, putatively involved in dimerization and sequence recognition, respectively
  • mono polymer monomer
    interspecies homolog to Drosophila tailless and Dsf
    ortholog to Nr2e1, Mus musculus
    homolog to C.elegans Nhr-67 and C08f8.8
    ortholog to Nr2e1, Rattus norvegicus
    ortholog to NR2E1, Pan troglodytes
    ortholog to nr2e1, Danio rerio
  • nuclear receptor subfamily 2, group E
  • steroid nuclear receptor superfamily (see TSG6F)
  • nuclear hormone receptor family
  • CATEGORY transcription factor , receptor nuclear
    SUBCELLULAR LOCALIZATION     intracellular
    basic FUNCTION
  • controles of neural cytoarchitectural organization
  • a highly conserved transcription factor known to be a key stem cell fate determinant in both the developing mouse forebrain and retina
  • crucial for the acquisition and maintenance of mature phenotypes of Müller cells and astrocytes
  • critical for the control of generating appropriate numbers of retinal astrocytes and is required for the expression of R-cadherin, and is a critical component of vasculogenesis, in astrocytes
  • an essential component of the molecular network involved in the hypoxia-inducible proangiogenic switch in retinal astrocytes
  • plays an important role in neural development by regulating cell cycle progression
  • upstream regulator of the PAX2 signaling cascade
  • playing a role in maintaining the undifferentiated, proliferative state of adult neural stem cells
  • regulates the expression of target genes by functioning as a constitutive transrepressor
  • transcription factor that is essential for neural stem cell proliferation and self-renewal (recruits histone deacetylases to repress transcription and regulate neural stem cell proliferation)
  • inducer of SIRT1 and may contribute to neurogenesis both as a transactivator and as a repressor (Iwahara 2009)
  • represses gene expression by binding a consensus site, AAGTCA (the TLX-binding site), in the promoter region, and potentiates the retinoic acid-dependent transactivation of RARB2 (Iwahara 2009)
  • recruiting KDM1A to the promoters of NR2E1 target genes to repress their expression (sun 2010)
  • CELLULAR PROCESS nucleotide, transcription, regulation
    text neurogenesis
    a component
    DNA binding to hormone response elements (HRE) containing an extended core motif half-site sequence 5'-AAGGTCA-3'
    small molecule metal binding,
  • Zn2+
  • protein
  • Atrophin
  • HDAC3 and HDAC5
  • histone demethylase LSD1
  • BCL11A is a novel NR2E1 coregulator that might be involved in NR2E1-dependent gene regulation in the brain
  • cell & other
    corresponding disease(s)
    Variant & Polymorphism
    Candidate gene
    Therapy target
  • cerebrum and olfactory bulb hypoplasia, hallmarks of the Nr2e1-null phenotype, were not fully corrected in animals harboring one functional copy of human NR2E1 but retinal histology and electroretinograms are completely corrected
  • Mice lacking the Nr2e1 gene (Tlx&
  • 8722;/&
    8722;) are viable at birth but adults show a reduction in the size of rhinencephalic and limbic structures, including the olfactory, infrarhinal and entorhinal cortex, amygdala and dentate gyrus
  • Nr2e1-null mice have retinal and optic nerve dystrophy, leading to blindness
  • the extracellular assembly of fibronectin matrices by retinal astrocytes is severely impaired in mice null for Tlx, leading to defective scaffold formation and a complete failure of normal retinal vascular development
  • Significant thinning of neocortex was observed in embryonic d 14.5 TLX-null brains with reduced nestin labeling and decreased cell proliferation in the germinal zone