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Edn3
Gene Detail
 Symbol
Name
ID
Edn3
endothelin 3
MGI:95285
Synonyms 114CH19, 114-CH19, tmgc48
Feature Type protein coding gene
Genetic Map
Chromosome 2
98.10 cM
Detailed Genetic Map ± 1 cM


Mapping data(14)
Sequence Map
Chr2:174760619-174784042 bp, + strand
From VEGA annotation of GRCm38

  23424 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:88  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken

Protein SuperFamily: endothelin
Gene Tree: Edn3

Human
homologs
Human Homolog EDN3, endothelin 3
NCBI Gene ID 1908
neXtProt AC  NX_P14138
Human Synonyms  ET3, ET-3, HSCR4, PPET3, WS4B
Human Chr (Location)  20q13.2-q13.3; chr20:59300444-59325992 (+)  GRCh38
Disease Associations  (3) Diseases Associated with Human EDN3
Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Chemically induced (ENU)(1) Spontaneous(1) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Edn3 (2)    Alleles Annotated to Human Diseases(3)    Phenotype Images(1)
Interactions
Edn3 interacts with 253 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (28 annotations)
Process cell surface receptor signaling pathway, inositol phosphate-mediated signaling, ...
Component cell, extracellular region, ...
Function hormone activity
External Resources: FuncBase
Expression
Literature Summary: (14 records)
Data Summary: Results (23)    Tissues (18)   
Theiler Stages: 18, 23, 25, 26, 27, 28
Assay TypeResults
Northern blot 7
RT-PCR 16
cDNA source data(12)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(16) Genomic(1) cDNA(12) Primer pair(3)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000016515 (Evidence)
Ensembl Gene ModelENSMUSG00000027524 (Evidence)
Entrez Gene13616 (Evidence)
DFCITC1582518, TC1618006
DoTSDT.101724843, DT.110679948, DT.40162305
NIA Mouse Gene IndexU002932
Consensus CDS ProjectCCDS17156.1
International Mouse Knockout Project StatusEdn3
Sequences
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 sequences
All sequences(37) RefSeq(2) UniProt(3)
Polymorphisms PCR(1) : SNPs within 2kb(158 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR020475 Bibrotoxin/Sarafotoxin-D
InterPro IPR001928 Endothelin-like toxin
InterPro IPR019764 Endothelin-like toxin, conserved site
Protein Ontology PR:000006899 endothelin-3
References (Earliest) J:13391 Lyon MF, brachypody, bp. Mouse News Lett. 1958;19:22
(Latest) J:201436 Chang I, et al., Endothelin-2 deficiency causes growth retardation, hypothermia, and emphysema in mice. J Clin Invest. 2013 Jun 3;123(6):2643-53
All references(92)
Disease annotation references (3)
Other
accession IDs
MGD-MRK-11888, MGD-MRK-9300, MGI:3589218

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
08/26/2014
MGI 5.19
The Jackson Laboratory