• Gene id: 1908

Gene Summary

• Gene Symbol: EDN3   Gene   UCSC   Ensembl
• Aliases: ET-3, ET3, HSCR4, PPET3, WS4B
• Gene name: endothelin 3
• Alternate names: endothelin-3, preproendothelin-3,
• Gene location: 20q13.32 (59300414: 59325991)     Exons: 6     NC_000020.11
• Gene summary(Entrez): The protein encoded by this gene is a member of the endothelin family. Endothelins are endothelium-derived vasoactive peptides involved in a variety of biological functions. The active form of this protein is a 21 amino acid peptide processed from the pre
• OMIM: 615421

Protein Summary

• Protein general information: P14138  
  • Name: Endothelin 3 (ET 3) (Preproendothelin 3) (PPET3)
  • Length: 238  
  • Mass: 25454
  • Tissue specificity: Expressed in trophoblasts and placental stem villi vessels, but not in cultured placental smooth muscle cells. {ECO
• Sequence:

  MEPGLWLLFGLTVTSAAGFVPCSQSGDAGRRGVSQAPTAARSEGDCEETVAGPGEETVAGPGEGTVAPTALQGPS
  PGSPGQEQAAEGAPEHHRSRRCTCFTYKDKECVYYCHLDIIWINTPEQTVPYGLSNYRGSFRGKRSAGPLPGNLQ
  LSHRPHLRCACVGRYDKACLHFCTQTLDVSSNSRTAEKTDKEEEGKVEVKDQQSKQALDLHHPKLMPGSGLALAP
  STCPRCLFQEGAP

• Structural information:
  • Interpro: IPR020475  IPR019764  IPR001928  
  • Prosite: PS00270
  • PDB: 6IGK
  • PDBsum: 6IGK
  • STRING: ENSP00000337128
• Other Databases: GeneCards:  EDN3  Malacards:  EDN3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IEA	cellular component
GO:0019229	regulation of vasoconstriction	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0042310	vasoconstriction	IEA	biological process
GO:0005102	signaling receptor binding	TAS	molecular function
GO:0007275	multicellular organism development	TAS	biological process
GO:0008015	blood circulation	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0007267	cell-cell signaling	TAS	biological process
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:0045597	positive regulation of cell differentiation	IGI	biological process
GO:0010468	regulation of gene expression	IGI	biological process
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:1901381	positive regulation of potassium ion transmembrane transport	IEA	biological process
GO:0048070	regulation of developmental pigmentation	IEA	biological process
GO:0030334	regulation of cell migration	IEA	biological process
GO:0010961	cellular magnesium ion homeostasis	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0006874	cellular calcium ion homeostasis	IEA	biological process
GO:0030318	melanocyte differentiation	IEA	biological process
GO:0030182	neuron differentiation	IEA	biological process
GO:0001755	neural crest cell migration	IEA	biological process
GO:0031708	endothelin B receptor binding	IPI	molecular function
GO:0005179	hormone activity	IDA	molecular function
GO:0005179	hormone activity	IDA	molecular function
GO:0002690	positive regulation of leukocyte chemotaxis	IDA	biological process
GO:0003100	regulation of systemic arterial blood pressure by endothelin	IDA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0010460	positive regulation of heart rate	IDA	biological process
GO:0014824	artery smooth muscle contraction	IDA	NOT|biological process
GO:0030593	neutrophil chemotaxis	IDA	biological process
GO:0043406	positive regulation of MAP kinase activity	IDA	biological process
GO:0046887	positive regulation of hormone secretion	IDA	biological process
GO:0007166	cell surface receptor signaling pathway	IDA	biological process
GO:0014826	vein smooth muscle contraction	IDA	biological process
GO:0030072	peptide hormone secretion	IDA	biological process
GO:0042310	vasoconstriction	IDA	biological process
GO:0042310	vasoconstriction	IDA	biological process
GO:0045840	positive regulation of mitotic nuclear division	IDA	biological process
GO:0048016	inositol phosphate-mediated signaling	IDA	biological process
GO:0005576	extracellular region	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04024	cAMP signaling pathway
hsa04270	Vascular smooth muscle contraction
hsa04924	Renin secretion

Diseases

Associated diseases	References
Congenital central hypoventilation syndrome	KEGG:H00916
Waardenburg syndrome	KEGG:H00759
Hirschsprung disease	KEGG:H00910
Congenital central hypoventilation syndrome	KEGG:H00916
Waardenburg syndrome	KEGG:H00759
Hirschsprung disease	KEGG:H00910
Hirschsprung's disease	PMID:9359047
Waardenburg's syndrome	PMID:8630502
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq