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Edn3 Gene Detail
Summary
  • Symbol
    Edn3
  • Name
    endothelin 3
  • Synonyms
    114CH19, 114-CH19, tmgc48
  • Feature Type
    protein coding gene
  • IDs
    MGI:95285
    NCBI Gene: 13616
  • Gene Overview
    MyGene.info: EDN3
Location & Maps
more
  • Sequence Map
    Chr2:174760619-174784042 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      23424 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 98.10 cM
  • Mapping Data
    14 experiments
Homology
more
  • Human Ortholog
    EDN3, endothelin 3
  • Vertebrate Orthologs
    7
  • Human Ortholog
    EDN3, endothelin 3
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ET3, ET-3, HSCR4, PPET3, WS4B
  • Links
    NCBI Gene ID: 1908
    neXtProt AC: NX_P14138

  • Chr Location
    20q13.2-q13.3; chr20:59300424-59325992 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Edn3 mouse models; 3 with human EDN3 associations

Human Disease Mouse Models
       Hirschsprung Disease, Susceptibility to, 4; HSCR4   OMIM: 613712 View 2 models
Waardenburg Syndrome, Type 4b; WS4B   OMIM: 613265 View 3 models
       Central Hypoventilation Syndrome, Congenital; CCHS   OMIM: 209880
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    17 phenotypes from 4 alleles in 5 genetic backgrounds
    3 phenotypes from multigenic genotypes
    1 images
    32 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    7
  • Chemically induced (ENU)
    1
  • Spontaneous
    1
  • Targeted
    3
  • Transgenic
    2
  • Incidental Mutations
Homozygotes for mutations at this locus exhibit aganglionic megacolon with white spotting of the hair coat due to impaired expansion and differentiation of epidermal melanoblasts. Mutants die around weaning with impacted colons.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016515 VEGA Gene Model | MGI Sequence Detail 23424 C57BL/6J ±  kb
transcript OTTMUST00000039907 VEGA | MGI Sequence Detail 3117 Not Applicable  
polypeptide OTTMUSP00000017796 VEGA | MGI Sequence Detail 214 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    158 from dbSNP Build 142
  • PCR
Protein
Information
less
Molecular
Reagents
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  • All nucleic 16
    Genomic 1
    cDNA 12
    Primer pair 3

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-11888, MGD-MRK-9300, MGI:3589218
References
more
  • Summaries
    All 91
    Developmental Gene Expression 14
    Diseases 4
    Gene Ontology 11
    Phenotypes 32
  • Earliest
    J:13391 Lyon MF, brachypody, bp. Mouse News Lett. 1958;19:22
  • Latest
    J:216864 Frykman PK, et al., Enterocolitis causes profound lymphoid depletion in endothelin receptor B- and endothelin 3-null mouse models of Hirschsprung-associated enterocolitis. Eur J Immunol. 2014 Dec 8;

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory