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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
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:174602412-174625835 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 98.10 cM
  • Mapping Data
    14 experiments
Strain
Comparison
more
  • SNPs within 2kb
    158 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95285
 protein coding gene Chr2:174602412-174625835 (+)
129S1/SvImJ MGP_129S1SvImJ_G0026972
 protein coding gene Chr2:181144968-181168335 (+)
A/J MGP_AJ_G0026939
 protein coding gene Chr2:173504507-173527870 (+)
AKR/J MGP_AKRJ_G0026910
 protein coding gene Chr2:178728403-178751781 (+)
BALB/cJ MGP_BALBcJ_G0026948
 protein coding gene Chr2:173903472-173927191 (+)
C3H/HeJ MGP_C3HHeJ_G0026690
 protein coding gene Chr2:179106656-179130001 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027395
 protein coding gene Chr2:186337996-186361353 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024764
 protein coding gene Chr2:166738486-166762619 (+)
CAST/EiJ MGP_CASTEiJ_G0026149
 protein coding gene Chr2:179869783-179893266 (+)
CBA/J MGP_CBAJ_G0026667
 protein coding gene Chr2:193285161-193308524 (+)
DBA/2J MGP_DBA2J_G0026805
 protein coding gene Chr2:172602868-172626225 (+)
FVB/NJ MGP_FVBNJ_G0026771
 protein coding gene Chr2:171233724-171257106 (+)
LP/J MGP_LPJ_G0026906
 protein coding gene Chr2:181050936-181074305 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026790
 protein coding gene Chr2:196170909-196194272 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027452
 protein coding gene Chr2:178768803-178792160 (+)
PWK/PhJ MGP_PWKPhJ_G0025885
 protein coding gene Chr2:172422463-172446226 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025685
 protein coding gene Chr2:177807872-177831286 (+)
WSB/EiJ MGP_WSBEiJ_G0026221
 protein coding gene Chr2:179721781-179745173 (+)



Homology
more
  • Human Ortholog
    EDN3, endothelin 3
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EDN3, endothelin 3
  • Synonyms
    ET3, ET-3, HSCR4, PPET3, WS4B
  • Links
    NCBI Gene ID: 1908
    neXtProt AC: NX_P14138
    UniProt: P14138

  • Chr Location
    20q13.32; chr20:59300443-59325992 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Edn3 mouse models; 3 with human EDN3 associations

Human Disease Mouse Models
      
IDs
 View 2 models
IDs
 View 3 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypes from 3 alleles in 3 genetic backgrounds
    8 phenotypes from multigenic genotypes
    1 images
    38 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.
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
less
  • All GO Annotations
    51
  • GO References
    14
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    794
  • Tissues
    61
  • cDNA Data
    15
  • Literature Summary
    20
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13616 NCBI Gene Model | MGI Sequence Detail 23424 C57BL/6J ±  kb
    transcript NM_007903 RefSeq | MGI Sequence Detail 3117 ZRU/MplStud  
    polypeptide P48299 UniProt | EBI | MGI Sequence Detail 214 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 26
      Genomic 1
      cDNA 16
      Primer pair 8
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-11888, MGD-MRK-9300, MGI:3589218
    References
    more
    • Summaries
      All 108
      Developmental Gene Expression 20
      Diseases 3
      Gene Ontology 14
      Phenotypes 38
    • Earliest
      J:12724 Mayer TC, et al., An experimental investigation of pattern development in lethal spotting and belted mouse embryos. Dev Biol. 1964 Apr;9:269-86
    • Latest
      J:333327 Kurihara Y, et al., Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding. J Clin Invest. 2023 Feb 15;133(4)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory