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Edn3 endothelin 3 [ Mus musculus (house mouse) ]

Gene ID: 13616, updated on 2-Nov-2024

Summary

Official Symbol
Edn3provided by MGI
Official Full Name
endothelin 3provided by MGI
Primary source
MGI:MGI:95285
See related
Ensembl:ENSMUSG00000027524 AllianceGenome:MGI:95285
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
ls; ET-3; PPET3; tmgc48
Summary
This gene is a member of the endothelin family whose members encode proteins that act on G protein-coupled receptors. Endothelins are produced as large prepropolypeptide precursors that undergo a first cleavage by a subtilisin serine protease to form an inactive intermediate, which in turn is cleaved again by endothelin-converting enzyme 1 (ECE-1) to yield the active 21 amino acid peptide. This gene encodes a protein which is expressed in neural crest cells (NCC), binds to endothelin receptor b (Ednrb) and plays an essential role in the development of NCC-derived cell lineages including melanocytes and enteric neurons. Mutations in this gene are associated with terminal aganglionosis and white spotted coat in mice and Hirschsprung's disease and Waardenburg syndrome in humans. [provided by RefSeq, Apr 2013]
Expression
Broad expression in large intestine adult (RPKM 6.3), small intestine adult (RPKM 5.0) and 18 other tissues See more
Orthologs
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Genomic context

See Edn3 in Genome Data Viewer
Location:
2 H4; 2 98.1 cM
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (174602412..174625835)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (174760619..174784042)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:174427868-174428120 Neighboring gene vomeronasal 1 receptor, pseudogene 1 Neighboring gene STARR-positive B cell enhancer ABC_E6032 Neighboring gene zinc finger protein 831 Neighboring gene predicted gene, 46781 Neighboring gene STARR-seq mESC enhancer starr_06645 Neighboring gene STARR-positive B cell enhancer ABC_E6033 Neighboring gene predicted gene 14617 Neighboring gene VISTA enhancer mm38 Neighboring gene predicted gene 14616

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Chemically induced (ENU) (1) 
  • Endonuclease-mediated (4)  1 citation
  • Spontaneous (1) 
  • Targeted (1)  1 citation

Pathways from PubChem

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables endothelin B receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables endothelin B receptor binding IEA
Inferred from Electronic Annotation
more info
 
enables endothelin B receptor binding ISO
Inferred from Sequence Orthology
more info
 
enables hormone activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables hormone activity IEA
Inferred from Electronic Annotation
more info
 
enables hormone activity ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in axon extension IDA
Inferred from Direct Assay
more info
PubMed 
involved_in axon guidance IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cell surface receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in cell surface receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of establishment of localization in cell IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in intracellular calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within intracellular calcium ion homeostasis IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within intracellular magnesium ion homeostasis IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within melanocyte differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of hormone secretion ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within neural crest cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within neuron differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neuron projection development IDA
Inferred from Direct Assay
more info
PubMed 
involved_in neutrophil chemotaxis IEA
Inferred from Electronic Annotation
more info
 
involved_in neutrophil chemotaxis ISO
Inferred from Sequence Orthology
more info
 
involved_in peptide hormone secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in peptide hormone secretion ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of MAP kinase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of MAP kinase activity ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within positive regulation of cell differentiation ISO
Inferred from Sequence Orthology
more info
PubMed 
acts_upstream_of_or_within positive regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within positive regulation of cell population proliferation ISO
Inferred from Sequence Orthology
more info
PubMed 
involved_in positive regulation of heart rate IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of heart rate ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of hormone secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of hormone secretion ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of leukocyte chemotaxis IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of leukocyte chemotaxis ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of mitotic nuclear division IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of mitotic nuclear division ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within positive regulation of potassium ion transmembrane transport IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of smooth muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of potassium ion transmembrane transport IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of developmental pigmentation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of gene expression ISO
Inferred from Sequence Orthology
more info
PubMed 
involved_in regulation of neurotransmitter secretion ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of systemic arterial blood pressure by endothelin IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in regulation of systemic arterial blood pressure by endothelin IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of systemic arterial blood pressure by endothelin ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of vasoconstriction IEA
Inferred from Electronic Annotation
more info
 
involved_in vasoconstriction ISO
Inferred from Sequence Orthology
more info
 
involved_in vein smooth muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in vein smooth muscle contraction IEA
Inferred from Electronic Annotation
more info
 
involved_in vein smooth muscle contraction ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in extracellular space IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular space ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
endothelin-3
Names
preproendothelin-3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_007903.5NP_031929.1  endothelin-3 preproprotein

    See identical proteins and their annotated locations for NP_031929.1

    Status: REVIEWED

    Source sequence(s)
    AK049775, AK079150, AL844489
    Consensus CDS
    CCDS17156.1
    UniProtKB/Swiss-Prot
    P48299, Q543L0
    UniProtKB/TrEMBL
    A2APU5
    Related
    ENSMUSP00000029030.3, ENSMUST00000029030.9
    Conserved Domains (2) summary
    smart00272
    Location:158179
    END; Endothelin
    pfam00322
    Location:93121
    Endothelin; Endothelin family

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    174602412..174625835
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)