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FLASH GENE
Symbol NFE2 contributors: mct - updated : 03-10-2016
HGNC name nuclear factor (erythroid-derived 2), 45kDa
HGNC id 7780
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 1697 - 373 liver, bone marrow 1995 7724591
anfe2
3 - 1698 - 373 fetal liver 1995 7724591
  • fnfe2
  • 4 - 1828 - 373 - 1995 7724591
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon  
     liver    
    Reproductivefemale systemplacenta    Homo sapiens
     male systemtestis   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerythroid Homo sapiens
    Blood/Hematopoieticmegakaryocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a basic region-leucine zipper (bZip) domains, mediating DNA binding and heterodimerization, and is the only functional domain established for MAFG
  • at least one PY motif which has the consensus PPXY
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies ortholog to murine Nfe2
    Homologene
    FAMILY Cap'n'collar (CNC) family of transcription factors
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • required for activity at the locus control region (LCR) upstream of the globin gene complexes
  • USF1 and NFE2 together regulate the association of Pol II with the adult beta-globin gene promoter
  • NFE2 represses protein acetylation and expression of GCM1 in trophoblast cells, preventing excess syncytiotrophoblast formation and permitting normal placental vascularization and embryonic growth
  • may play a role in all aspects of hemoglobin production: globin synthesis, heme synthesis, and the procurement of iron
  • role of increased NFE2 activity in the pathophysiology of myeloproliferative neoplasms (MPNs)
  • by activating genes in megakaryocytes that mediate platelet production and function, NFE2 determines the quantity and quality of platelets
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • dimerizing with TFCP2 to form the stage selector protein complex, binding to LCR of globin loci
  • heterodimer of p45 NFE2 and p18 NFE2
  • forms heterodimers with small MAF proteins, and the resulting complex binds to regulatory elements in a large number of target genes
  • is part of a complex regulatory network, including transcription factors such as GATA1 and RUNX1, controlling megakaryocytic and/or erythroid cell function
  • INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • mediating with GATA1 the erythroid expression of alpha spectrin gene
  • MAFK/NFE2 recruitment was involved in the physical proximity of locus control region (LCR) and active beta-globin genes upon beta-globin gene transcriptional activation
  • USF1 interacts with NFE2 in erythroid cells
  • MAFG is required only for NFE2 binding to Maf recognition element (MARE) and to facilitate NFE2-mediated transcriptional activation
  • NFE2 modulates JUND binding to the GCM1 promoter via acetylation
  • cell & other
    REGULATION
    repressed by transcriptionaly repressed by ITCH
    Other NFE2 function is controlled by a series of posttranslational modifications
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    with RUNX1 in granulocytes of patients with polycythemia vera and other myeloproliferative neoplasms
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • quantitative NFE2 immunohistochemistry represents a diagnostic tool that can reliably support a differential diagnosis between essential thrombocythemia (ET) and primary myelofibrosis (PMF)
  • Therapy target
    ANIMAL & CELL MODELS
  • Nfe2 deficient mice had a significant increase in cortical bone area and cortical thickness, which is consistent with the increase in bone mineral density (BMD) seen only in the Nfe2 deficient femurs
  • mice deficient in Nfe2, transcription factors required for normal megakaryocyte (MK) development, have increased numbers of MKs, reduced numbers of platelets