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 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

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; chr20:57875499-57901047 (+)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human EDN3

Alleles and phenotypes

All alleles(5) : Targeted(3) Spontaneous(1) Chemically induced(1)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (26 annotations)

Process	cell surface receptor signaling pathway, inositol phosphate-mediated signaling, ...
Component	extracellular region, extracellular space
Function	hormone activity

External Resources: FuncBase

Expression

Literature Summary: (13 records)
Data Summary: Results (23)    Tissues (18)   
Theiler Stages: 18, 23, 25, 26, 28

Assay Type	Results
Northern blot	7
RT-PCR	16

cDNA source data(12)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(16) Genomic(1) cDNA(12) Primer pair(3)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000016515 (Evidence)
Ensembl Gene Model	ENSMUSG00000027524 (Evidence)
Entrez Gene	13616 (Evidence)
DFCI	TC1582518, TC1618006
DoTS	DT.101724843, DT.110679948, DT.40162305
NIA Mouse Gene Index	U002932
Consensus CDS Project	CCDS17156.1
International Mouse Knockout Project Status	Edn3

Sequences

Length	Strain/Species
genomic	OTTMUSG00000016515	VEGA Gene Model | MGI Sequence Detail	23424	C57BL/6J
transcript	OTTMUST00000039907	VEGA | MGI Sequence Detail	3117	Not Applicable
polypeptide	OTTMUSP00000017796	VEGA | MGI Sequence Detail	214	Not Applicable

All sequences(37) RefSeq(2) UniProt(3)

Polymorphisms

PCR(1) : SNPs(148 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:194534 Chang CY, et al., NFIB is a governor of epithelial-melanocyte stem cell behaviour in a shared niche. Nature. 2013 Mar 7;495(7439):98-102
All references(91)

Other accession IDs

MGD-MRK-11888, MGD-MRK-9300, MGI:3589218