Edn3 endothelin 3 [Mus musculus (house mouse)] - Gene

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: human all
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Genomic context

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_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The immunosuppressive role of Edn3 overexpression in the melanoma microenvironment.
Title: The immunosuppressive role of Edn3 overexpression in the melanoma microenvironment.
Investigation of the Molecular Mechanisms by Which Endothelin-3 Stimulates Preadipocyte Growth.
Title: Investigation of the Molecular Mechanisms by Which Endothelin-3 Stimulates Preadipocyte Growth.
study of the interplay between the EDN3 and beta1-integrin signalling pathways during ENS ontogenesis and the role of EDN3 in enteric neural crest cell adhesion
Title: Endothelin-3 stimulates cell adhesion and cooperates with β1-integrins during enteric nervous system ontogenesis.
Control of differentiation of mouse enteric nervous system progenitor cells by EDN3 requires regulation of Ednrb expression by SOX10 and ZEB2.
Title: Differentiation of Mouse Enteric Nervous System Progenitor Cells Is Controlled by Endothelin 3 and Requires Regulation of Ednrb by SOX10 and ZEB2.
Endothelin3 signaling has a critical role in development of UV-induced melanoma in a mouse model
Title: Novel UV-induced melanoma mouse model dependent on Endothelin3 signaling.
colonic migrating motor complexes occur in mice lacking the endothelin-3 gene
Title: Can colonic migrating motor complexes occur in mice lacking the endothelin-3 gene?
Enterocolitis causes profound lymphoid depletion in endothelin receptor B- and endothelin 3-null mouse models of Hirschsprung-associated enterocolitis.
Title: Enterocolitis causes profound lymphoid depletion in endothelin receptor B- and endothelin 3-null mouse models of Hirschsprung-associated enterocolitis.
changes in spinal afferent innervation and visceral pain transmission from the aganglionic rectum in ls/ls mice with deletions of the endothelin-3 gene
Title: Loss of visceral pain following colorectal distension in an endothelin-3 deficient mouse model of Hirschsprung's disease.
Endothelin 3 induces skin pigmentation in a keratin-driven inducible mouse model.
Title: Endothelin 3 induces skin pigmentation in a keratin-driven inducible mouse model.
a coordinate and balanced interaction between SOX10, endothelin-3 and endothelin B receptor is required for normal enteric nervous system and melanocyte development
Title: Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (1)
Chemically induced (ENU) (1)
Targeted (1) 1 citation
Endonuclease-mediated (2)

General gene information

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Markers

Edn3 (e-PCR), detects polymorphism
- UniSTS:142962

Edn3 (e-PCR), detects polymorphism
- UniSTS:142963

Edn3 (e-PCR), detects polymorphism
- UniSTS:142964

NoName (e-PCR)
- UniSTS:234623

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	ISO Inferred from Sequence Orthology more info
enables hormone activity	IBA Inferred from Biological aspect of Ancestor 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_or_within blood vessel diameter maintenance	IEA Inferred from Electronic Annotation more info
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
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	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
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	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	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
located_in extracellular space	ISO Inferred from Sequence Orthology more info

General protein information

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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.