{ "uniprot_canonical_ac": "P14138-1", "uniprot_ac": "P14138", "uniprot_id": "EDN3_HUMAN", "mass": { "chemical_mass": 25454.0, "monoisotopic_mass": 25454.0 }, "refseq": { "ac": "NP_001289384", "name": "endothelin-3 isoform 4 preproprotein", "summary": "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 precursor protein. The active peptide is a ligand for endothelin receptor type B (EDNRB). The interaction of this endothelin with EDNRB is essential for development of neural crest-derived cell lineages, such as melanocytes and enteric neurons. Mutations in this gene and EDNRB have been associated with Hirschsprung disease (HSCR) and Waardenburg syndrome (WS), which are congenital disorders involving neural crest-derived cells. Altered expression of this gene is implicated in tumorigenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289384" }, "gene_names": [ { "name": "EDN3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P14138", "id": "P14138" }, { "name": "EDN3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289384", "id": "NP_001289384" }, { "name": "ET-3; ET3; HSCR4; PPET3; WS4B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289384", "id": "NP_001289384" } ], "protein_names": [ { "name": "Endothelin-3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P14138" }, { "name": "ET-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14138" }, { "name": "PPET3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14138" }, { "name": "Preproendothelin-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14138" }, { "name": "endothelin-3 isoform 4 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289384", "id": "NP_001289384" }, { "name": "preproendothelin-3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289384", "id": "NP_001289384" } ], "function": [ { "annotation": "Endothelin-3 is epigenetically silenced in endometrioid endometrial cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001289384", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289384" }, { "database": "PubMed", "id": "36542159", "url": "https://glygen.org/publication/PubMed/36542159" } ] }, { "annotation": "Endothelins are endothelium-derived vasoconstrictor peptides.", "evidence": [ { "database": "UniProtKB", "id": "P14138", "url": "https://www.uniprot.org/uniprot/P14138#function" }, { "database": "UniProtKB", "id": "Q4FAT2", "url": "https://www.uniprot.org/uniprot/Q4FAT2#function" }, { "database": "UniProtKB", "id": "ARBA00003023", "url": "https://www.uniprot.org/uniprot/ARBA00003023#function" }, { "database": "UniProtKB", "id": "A0A5F9ZHX0", "url": "https://www.uniprot.org/uniprot/A0A5F9ZHX0#function" }, { "database": "UniProtKB", "id": "A0A2R8Y214", "url": "https://www.uniprot.org/uniprot/A0A2R8Y214#function" } ] }, { "annotation": "Insights into Endothelin-3 and Multiple Sclerosis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001289384", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289384" }, { "database": "PubMed", "id": "32589590", "url": "https://glygen.org/publication/PubMed/32589590" } ] }, { "annotation": "MiR27a3p regulates the inhibitory influence of endothelin 3 on the tumorigenesis of papillary thyroid cancer cells. Erratum:[Mol Med Rep. 2021 Jun;23(6):. PMID: 33880586]", "evidence": [ { "database": "RefSeq", "id": "NP_001289384", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289384" }, { "database": "PubMed", "id": "33537832", "url": "https://glygen.org/publication/PubMed/33537832" } ] }, { "annotation": "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 precursor protein. The active peptide is a ligand for endothelin receptor type B (EDNRB). The interaction of this endothelin with EDNRB is essential for development of neural crest-derived cell lineages, such as melanocytes and enteric neurons. Mutations in this gene and EDNRB have been associated with Hirschsprung disease (HSCR) and Waardenburg syndrome (WS), which are congenital disorders involving neural crest-derived cells. Altered expression of this gene is implicated in tumorigenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001289384", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289384" } ] }, { "annotation": "The ratio of circulating endothelin-1 to endothelin-3 associated with TIMI risk and dynamic TIMI risk score in ST elevation acute myocardial infarction.", "evidence": [ { "database": "RefSeq", "id": "NP_001289384", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289384" }, { "database": "PubMed", "id": "32315546", "url": "https://glygen.org/publication/PubMed/32315546" } ] } ], "disease": [ { "disease_id": "DOID:0110954", "recommended_name": { "id": "DOID:0110954", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110954", "name": "Waardenburg syndrome type 4B", "description": "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13." }, "synonyms": [ { "id": "DOID:0110954", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110954", "name": "WS4B", "description": "" }, { "id": "DOID:0110954", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110954", "name": "Waardenburg syndrome type IVB", "description": "" }, { "id": "DOID:0110954", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110954", "name": "Waardenburg syndrome with Hirschsprung disease type 4B", "description": "" }, { "id": "MONDO:0013201", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013201", "name": "Waardenburg syndrome type 4B", "description": "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3." }, { "id": "MONDO:0013201", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013201", "name": "EDN3 Waardenburg 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"https://monarchinitiative.org/disease/MONDO:0013201", "name": "Waardenburg syndrome, type 4B", "description": "" }, { "id": "MONDO:0013201", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013201", "name": "Waardenburg syndrome, type 4B, with Hirschsprung disease", "description": "" }, { "id": "MIM:613265", "resource": "MIM", "url": "https://www.omim.org/entry/613265", "name": "Waardenburg syndrome 4B", "description": "Waardenburg syndrome 4B" } ], "evidence": [ { "id": "613265", "database": "MIM", "url": "https://www.omim.org/entry/613265" } ] }, { "disease_id": "MONDO:0013384", "recommended_name": { "id": "MONDO:0013384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013384", "name": "Hirschsprung disease, susceptibility to, 4", "description": "An inherited susceptibility or predisposition to developing Hirschsprung disease in which the cause of the disease is a mutation in the EDN3 gene." }, "synonyms": [ { "id": "MONDO:0013384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013384", "name": "EDN3 Hirschsprung disease", "description": "" }, { "id": "MONDO:0013384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013384", "name": "Hirschsprung disease caused by mutation in EDN3", "description": "" }, { "id": "MONDO:0013384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013384", "name": "Hirschsprung disease, susceptibility to, 4", "description": "" }, { "id": "MONDO:0013384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013384", "name": "Hirschsprung disease, susceptibility to, type 4", "description": "" }, { "id": "MONDO:0013384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013384", "name": "HSCR4", "description": "" }, { "id": "MONDO:0013384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013384", "name": "susceptibility to Hirschsprung disease 4", "description": "" }, { "id": "MIM:613712", "resource": "MIM", "url": "https://www.omim.org/entry/613712", "name": "Hirschsprung disease 4", "description": "Hirschsprung disease 4" } ], "evidence": [ { "id": "613712", "database": "MIM", "url": "https://www.omim.org/entry/613712" } ] } ], "snv": [ { "evidence": [ { "id": "P14138", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P14138" } ], "glycoeffect": [], "start_pos": 224, "end_pos": 224, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "20", "chr_pos": "59324412", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A224", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", 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Cluderay J, Leslie R, Wilson S, Sarau HM", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "10421367", "url": "https://glygen.org/publication/PubMed/10421367" } ] }, { "title": "Molecular characterization of the melanin-concentrating-hormone receptor.", "journal": "Nature", "date": "1999", "authors": "Saito Y, Nothacker HP, Wang Z, Lin SH, Leslie F, Civelli O", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "10421368", "url": "https://glygen.org/publication/PubMed/10421368" } ] }, { "title": "Proteolytic processing of big endothelin-3 by the kell blood group protein.", "journal": "Blood", "date": "1999", "authors": "Lee S, Lin M, Mele A, Cao Y, Farmar J, Russo D, Redman C", "evidence": [ { "database": "UniProtKB", "id": "P14138", "url": 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