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Symbol EDN3 contributors: mct - updated : 26-05-2015
HGNC name endothelin 3
HGNC id 3178
Corresponding disease
CCHS2 congenital central hypoventilation syndrome 2
HSCR4 Hirschsprung disease 4
WS4B Waardenburg syndrome, type 4B
Location 20q13.32      Physical location : 57.875.498 - 57.901.046
Synonym name
  • truncated endothelin 3
  • preproendothelin-3
  • Synonym symbol(s) ET3, MGC15067, MGC61498, ET-3, PPET3, HSCR4, WS4B
    TYPE functioning gene
    STRUCTURE 25.55 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    RNPC1 20q13.31 RNA-binding region (RNP1, RRM) containing 1 LOC149767 20q13.31 similar to dJ579F20.1 (high-mobility group (nonhistone chromosomal) protein 1-like 1) CTCFL 20q13.31 CCCTC-binding factor (zinc finger protein)-like PCK1 20q13.3 phosphoenolpyruvate carboxykinase 1 (soluble) ZBP1 17q21.3 Z-DNA binding protein 1 TMEPAI 20q13.31-q13.33 transmembrane, prostate androgen induced RNA C20orf85 20q13.32 chromosome 20 open reading frame 85 C20orf86 20q13.32 chromosome 20 open reading frame 86 PPP4R1L 20q13.32 protein phosphatase 4, regulatory subunit 1-like RAB22A 20q13 RAB22A, member RAS oncogene family VAPB 20q13 VAMP (vesicle-associated membrane protein)-associated protein B and C FLJ90166 20q13.32 hypothetical protein FLJ90166 MGC4294 20q13.32 hypothetical protein MGC4294 LOC388801 20 LOC388801 STX16 20q13.32 syntaxin 16 NPEPL1 20q13.32 aminopeptidase-like 1 LOC388802 20 hypothetical gene supported by AK124059 LOC391258 20 similar to Hypothetical protein KIAA0233 GNAS 20q13.2-q13.3 GNAS complex locus TH1L 20q13 TH1-like (Drosophila) CTSZ 20q13 cathepsin Z TUBB1 20q13.32 tubulin, beta 1 ATP5E 20q13.2-q13.3 ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit C20orf45 20q13.32 chromosome 20 open reading frame 45 MRPS16P 20q13.32 chromosome 20 open reading frame 45 LOC343629 20q13.32 similar to bA379F14.2 (novel protein) C20orf174 20q13.32 chromosome 20 open reading frame 174 EDN3 20q13.2-q13.3 endothelin 3 LOC391259 20 similar to bA164D18.1 (novel protein similar to KIAA0233) SCAPIN1 20q13.32-q13.33 scapinin SYCP2 20q13.33 synaptonemal complex protein 2 PPP1R3D 20q13.3 protein phosphatase 1, regulatory subunit 3D C20orf177 20q13.2-q13.33 chromosome 20 open reading frame 177 CDH26 20q13.2-q13.33 cadherin-like 26 FLJ33860 20q13.33 hypothetical protein FLJ33860 LOC388803 20 LOC388803 LOC388804 20 LOC388804 MTCO2L 20 cytochrome c oxidase II-like
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 splicing 2438 25 238 - 1997 9284755
  • variant 1
  • encoding the same isoform than variant 4
  • 5 splicing 2694 23 219 - 1997 9284755
  • variant 2
  • using an alternative splice site in the coding region
  • lacking a segment in the 3' UTR compared to variant 1
  • 4 splicing 2617 23 224 - 1997 9284755
  • variant 3
  • lacking an exon
  • using an alternative splice site in the coding region compared to variant 1
  • the translation frame remains the same
  • 5 splicing 2659 25 238 - 1997 9284755
  • variant 4
  • containing an additional fragment within the 3' UTR compared to variant 1
  • encoding the same isoform than variant 1
    Type widely
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
     mouthtongue  moderately
     pancreas exocrine   highly
    Reproductivefemale systemovary  moderately
    Respiratoryrespiratory tractlarynx  highly
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    cell lineage
    cell lines
    at STAGE
  • 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)
    interspecies ortholog to murine Edn3
    ortholog to rattus Edn3
  • endothelin/sarafotoxin family
  • CATEGORY regulatory , signaling
    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
    signaling signal transduction , sensory transduction/hearing
    a component
    small molecule
  • 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
    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
    Therapy target
  • mice with deletions of the endothelin-3 gene (lethal spotted mice, ls/ls) develop congenital aganglionosis