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FLASH GENE
Symbol EDN3 contributors: mct - updated : 26-05-2015
HGNC name endothelin 3
HGNC id 3178
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a preproendothelin giving proendothelin from the N terminus
  • a C terminal region containing an endothelin-like peptide
  • the preendothelin gives EDN3 (21AA with two SH bounds) after cleavage by endothelin conversion enzyme (ECE1) and/or KELL group protein (KEL)
  • prepro Vic cleaved to Big VIC including a VIC-like peptide, then releasing mature VIC (EDN3)
    • HOMOLOGY
    interspecies ortholog to murine Edn3
    ortholog to rattus Edn3
    Homologene
    FAMILY
  • endothelin/sarafotoxin family
    • CATEGORY regulatory , signaling
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    text soluble fraction
    basic FUNCTION
  • endothelin 3, vaso-constrictor/pressor peptide
  • inducing several cellular responses, including the production of second messengers, diacylglycerol and inositol-triphosphate
  • playing an essential in development of neural crest-derived cell lineages, such as melanocytes and enteric neurons
  • essential paracrine factor for the proliferation, migration, and survival of embryonic melanocytes during fetal development
  • is involved in regulating colonic epithelial cell proliferation and survival, particularly for goblet cells, and may be an important component of colonic homeostasis
  • induces cortical neurite elongation through the endothelin A receptor (Uesugi 2009)
  • at low concentrations may attenuate inflammatory responses via EDNRB activation and NO production
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction , sensory transduction/hearing
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • endothelin receptor type B (EDNRB)
  • interactions between SOX10, EDN3 and EDNRB during enteric nervous system and melanocyte development
  • BMP4 induces MITF expression in pluripotent stem cells and EDN3 subsequently promotes differentiation of these MITF expressing cells along the melanocyte lineage
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CCHS2 , HSCR4 , WS4B
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    reduction may be important in the transition from normal to cancerous cervical epithelium (Sun 2007)
    tumoral     --low  
    in cervical cancer compared with normal cervical epithelial cells (Sun 2007)
    tumoral       loss of function
    occurs frequently in colon cancers
    constitutional     --low  
    not only affects development and function of the enteric nervous system, but also specific classes of spinal rectal mechanoreceptors, which are required for visceral nociception from the colorectum
    Susceptibility to sporadic Hirschsprung disease
    Variant & Polymorphism other
  • common susceptibility gene for sporadic Hirschsprung disease in a low-penetrance fashion
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice with deletions of the endothelin-3 gene (lethal spotted mice, ls/ls) develop congenital aganglionosis