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FLASH GENE
Symbol NRG3 contributors: mct - updated : 06-09-2016
HGNC name neuregulin 3
HGNC id 7999
PROTEIN
PHYSICAL PROPERTIES Hydrophobic
STRUCTURE
motifs/domains
  • a N terminal alanine/glycine- rich segment
  • an extracellular EGF-like domain (31 p100 identity with the NRG1 EGF-like domain)
  • two hydrophobic segments functioning as a transmembrane domain
  • a mucin-like S-Triche region wich abundant sites for O-linked glycosylation
  • conjugated GlycoP
    isoforms Precursor
    HOMOLOGY
    interspecies homolog to murine Nrg3
    intraspecies paralog to NRG1
    Homologene
    FAMILY
  • neuregulin family
  • CATEGORY regulatory , signaling growth factor
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    text type I membrane protein and soluble
    basic FUNCTION
  • may be involved in the regulation of trafficking and proteolytic processing
  • increases tyrosine phosphorylation of ERBB4 receptor
  • promotes cell death of prostate cancer cells
  • acting as an oligodendrocyte survival factor by activating the phosphoinositide 3-kinase signaling pathway
  • like NRG1, plays critical roles in the development of the embryonic cerebral cortex via regulation of cortical cell migration and patterning
  • plays pleiotropic roles in neurodevelopment and is a putative susceptibility locus for schizophrenia
  • regulates the distribution of epithelial progenitor cells within the presumptive mammary-forming region during early mammary morphogenesis
  • potential role for NRG3 in brain development and function, which appears to be distinct from its paralog NRG1
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ligand for the ERBB4 receptor tyrosine kinase that plays pleotropic roles in neurodevelopment
  • PTPN21 exerts pro-neuronal survival and neuritic elongation via ERBB4/NRG3 signaling
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL10Q23
    Susceptibility
  • to schizophrenia
  • to developmental delay, cognitive impairment, and autism
  • to Hirschsprung disease
  • Variant & Polymorphism SNP
  • polymorphisms in intron 1 of NRG3 (rs10883866, rs10748842, and rs6584400) increasing the risk of schizophrenia
  • recurrent microdeletions associated with a heterogeneous group of neurodevelopmental disorders, including developmental delay, cognitive impairment, and autism
  • nonsynonymous variant c.1329G>A (p.M443I) and synonymous variants c.828G>A (p.T276T) and c.1365T>A (p.P455P) increase risk of Hirschsprung disease
  • Candidate gene for congenital breast aplasia in del 10q23
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • in murine juvenile testes Ra and Fsh induced meiosis indirectly through Sertoli cells when Nrg1 and Nrg3 were upregulated, as Nrg1 amplified itself and Nrg3