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FLASH GENE
Symbol EGR2 contributors: mct/npt/pgu - updated : 09-04-2013
HGNC name early growth response 2
HGNC id 3239
Corresponding disease
CMT1D Charcot-Marie-Tooth disease, demyelinating, type 1D
CMT4E hypomyelinating neuropathy, congenital
Location 10q21.2      Physical location : 64.571.759 - 64.578.927
Synonym name
  • immediate early growth response, gene 2 (pAT591)
  • early growth response 2 (Krox-20 homolog, Drosophila)
  • Krox-20 homolog, Drosophila
  • Synonym symbol(s) KROX20, AT591, DKFZp686J1957, FLJ14547, EGR-2
    DNA
    TYPE functioning gene
    STRUCTURE 7.17 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence
    text structure methylated intron 1 having somehow conferred enhancer-like activity
    MAPPING cloned Y linked Y status confirmed
    Physical map
    BICC1 10q21.3 bicaudal C homolog 1 (Drosophila) LOC389971 10 hypothetical gene supported by U78798; NM_004620 KIAA1796 10q11 KIAA1796 protein FAM13C1 10q21 family with sequence similarity 13, member C1 MRPL50P4 10q23.1 family with sequence similarity 13, member C1 C10orf36 D10S170 ANK3 10q21 ankyrin 3, node of Ranvier (ankyrin G) LOC387684 10 similar to ADP-ribosylation factor-like protein 4 CDC2 10q21.1 cell division cycle 2, G1 to S and G2 to M RHOBTB1 10q22.1 Rho-related BTB domain containing 1 MGC35010 10q21.3 hypothetical protein MGC35010 MGC44593 10q21.3 hypothetical protein MGC44593 MRF2 10q21.3 hypothetical protein MGC44593 RTKN2 10q21.3 rhotekin 2 ZNF365 10q21.2 zinc finger protein 365 LOC387685 10 LOC387685 ATQL4 10q21 antiquitin-like 4 C10orf22 10q21.3 chromosome 10 open reading frame 22 EGR2 10q21.1 early growth response 2 (Krox-20 homolog, Drosophila) NRBF-2 TRIP8 10q22.1 thyroid hormone receptor interactor 8 LOC389972 10 similar to Px19-like protein MGC14425 10q22.1 hypothetical protein MGC14425 LOC221035 10q22.1 similar to DNA segment, Chr 10, University of California at Los Angeles 1 MRPL35P2 10q21.3 similar to DNA segment, Chr 10, University of California at Los Angeles 1 RPL7AP1 10q21.2 similar to DNA segment, Chr 10, University of California at Los Angeles 1 LOC143173 10q22.1 similar to activator of S phase kinase ANXA2P3 10q21-q22 annexin A2 pseudogene 3 VR22 10q22.2 alpha-catenin-like protein
    RNA
    TRANSCRIPTS type messenger
    text Variants 1, 2, and 3 encode the same protein
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 2992 50.2 476 - 1988 3140236
    3 - 2809 50.2 476 - 1988 3140236
    4 - 2864 50.2 476 - 1988 3140236
    3 - 2892 45 426 - 1988 3140236
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   highly
    Endocrinethyroid   predominantly
    Reproductivemale systemtestis  highly
    Respiratorylung   highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose   
    Connectivebone  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three tandem zinc finger C2H2 type
  • DNA binding domain
  • one class 2 flanked by two class 1
  • one inhibitory domain
  • HOMOLOGY
    interspecies homolog to Drosophila Krox-20
    intraspecies homolog to Krüppel 20
    Homologene
    FAMILY
  • EGR C2H2-type zinc-finger protein family
  • CATEGORY transcription factor , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • involved in early myelination of the peripheral nervous system
  • mediator of the PTEN growth suppressive signaling pathway
  • stimutaling adipogenesis via C/EBP beta-dependent and -independent mechanisms
  • playing a role in the transactivation of C/EBP beta in a hormonal inducers dependent manner
  • its expression in Schwann cells was mediated by AKT1
  • EGR1, EGR2, EGR3, are essential for conversion of the mitogenic signal of epidermal growth factor into a proliferative response
  • specifically required for Schwann cells to initiate and maintain myelination
  • EGR1, EGR2 are novel DNA-binding proteins involved in vertebrate tendon differentiation by regulating type I collagen production
  • EGR2 expressed in restricted stages of lymphocyte development plays a dynamic, but similar role for the development of T, NKT and B cells
  • functions as a SUMO ligase for its coregulators--the Nab proteins--and NAB2 sumoylation negatively modulates EGR2 transcriptional activity
  • important modulator of TNFSF11-induced osteoclast differentiation, providing the link between TNFSF11, EGR2 and ID proteins in osteoclast-lineage cells
  • EGR2 and EGR3 regulate B and T cell function in adaptive immune responses and homeostasis by promoting antigen receptor signaling and controlling inflammation
  • is an essential transcriptional regulator of the T cell anergy program
  • EGR2-neurons are a critical component of the respiratory chemoreflex into adulthood
  • appears to regulate the expression of immunomodulatory molecules
  • EGR2 and EGR3 are the unique regulators for systemic autoimmunity
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS behavioral , development
    text
  • brain development
  • peripheral nervous system development, mechanosensory behavior
  • PATHWAY
    metabolism
    signaling
    calcineurin signaling pathway
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • binding to the MECP2 promoter and MECP2 binding to the enhancer region in EGR2 intron 1
  • interaction with ADAM19 (functions as a modulator of juxtacrine signaling from axons that activate the AKT pathway and the EGR2 expression)
  • colocalization of EGR2 binding with SOX10, a transcription factor required for Schwann cell specification and other stages of Schwann cell development
  • YY1 emerges as an important activator of peripheral myelination that links neuregulin signaling with EGR2 expression
  • UBE2I is an interaction partner of the transcription factor EGR2, a key regulator of hindbrain development
  • negatively regulates TNFSF11-induced osteoclast differentiation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMT1D , CMT4E
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in ovarian tumor by hypermethylation in intron 1
    constitutional     --over  
    of EGR1 and EGR2 controls natural killer T lineage differentiation in response to TCR signaling (Pubmed 22306690)
    Susceptibility to Ewing sarcoma
    Variant & Polymorphism SNP
  • rs224278 associated with susceptibility to Ewing sarcoma
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Egr2-null mice die perinatally of respiratory insufficiency characterized by subnormal respiratory rate and severe apneas