U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    Edn3 endothelin 3 [ Mus musculus (house mouse) ]

    Gene ID: 13616, updated on 22-May-2022

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Edn3 in Genome Data Viewer
    Location:
    2 H4; 2 98.1 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109 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)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 2 NC_000068.6 (174586274..174609543)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene vomeronasal 1 receptor, pseudogene 1 Neighboring gene zinc finger protein 831 Neighboring gene predicted gene, 46781 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
    • 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)
    • Spontaneous (1) 
    • Chemically induced (ENU) (1) 
    • Targeted (1)  1 citation

    Pathways from PubChem

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables endothelin B receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables endothelin B receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables hormone activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular calcium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within cellular calcium ion homeostasis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within cellular magnesium ion homeostasis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of establishment of localization in cell IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in inositol phosphate-mediated signaling ISO
    Inferred from Sequence Orthology
    more info
     
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in peptide hormone secretion ISO
    Inferred from Sequence Orthology
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of hormone secretion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of leukocyte chemotaxis ISO
    Inferred from Sequence Orthology
    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 prostaglandin-endoperoxide synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    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
    PubMed 
    involved_in vein smooth muscle contraction ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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)

    NEW Try the new Transcript table

    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
      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: Mus musculus Annotation Release 109 details...Open this link in a new tab

    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)