{ "uniprot_canonical_ac": "P48302-1", "uniprot_ac": "P48302", "uniprot_id": "EDNRB_MOUSE", "mass": { "chemical_mass": 49561.0, "monoisotopic_mass": 49561.0 }, "refseq": { "ac": "NP_001129533", "name": "endothelin receptor type B isoform 1 precursor", "summary": "This gene encodes a member of the G-protein coupled receptor family. It encodes a receptor for endothelins, peptides that are involved in vasocontriction. The encoded protein activates a phosphatidylinositol-calcium second messenger system and is required for the development of enteric neurons and melanocytes. Gene disruption causes pigmentation anomalies, deafness, and abnormal dilation of the colon due to defects of neural crest-derived cells. Mutations in this gene are found in the piebald mouse, and mouse models of Hirschsprung's disease and Waardenburg syndrome type 4. Renal collecting duct-specific gene deletion causes sodium retention and hypertension. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129533" }, "gene_names": [ { "name": "Ednrb", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P48302", "id": "P48302" }, { "name": "ET-B; ET-BR; ETb; ETR-b; Sox10m1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129533", "id": "NP_001129533" }, { "name": "Ednrb", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129533", "id": "NP_001129533" } ], "protein_names": [ { "name": "Endothelin receptor type B", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P48302" }, { "name": "ET-BR", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P48302" }, { "name": "ET-B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P48302" }, { "name": "Endothelin receptor non-selective type", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P48302" }, { "name": "endothelin receptor type B isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129533", "id": "NP_001129533" }, { "name": "piebald; endothelin B receptor; endothelin receptor non-selective type", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129533", "id": "NP_001129533" } ], "function": [ { "annotation": "Endothelin B Receptor Immunodynamics in Pulmonary Arterial Hypertension. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001129533", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129533" }, { "database": "PubMed", "id": "35757687", "url": "https://glygen.org/publication/PubMed/35757687" } ] }, { "annotation": "Endothelin receptor B enhances liver injury and pro-inflammatory responses by increasing G-protein-coupled receptor kinase-2 expression in primary biliary cholangitis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001129533", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129533" }, { "database": "PubMed", "id": "36396948", "url": "https://glygen.org/publication/PubMed/36396948" } ] }, { "annotation": "Non-specific receptor for endothelin 1, 2, and 3. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. Essential component in the normal development of two neuronal crest-derived cell lineages.", "evidence": [ { "database": "UniProtKB", "id": "P48302", "url": "https://www.uniprot.org/uniprot/P48302#function" } ] }, { "annotation": "This gene encodes a member of the G-protein coupled receptor family. It encodes a receptor for endothelins, peptides that are involved in vasocontriction. The encoded protein activates a phosphatidylinositol-calcium second messenger system and is required for the development of enteric neurons and melanocytes. Gene disruption causes pigmentation anomalies, deafness, and abnormal dilation of the colon due to defects of neural crest-derived cells. Mutations in this gene are found in the piebald mouse, and mouse models of Hirschsprung's disease and Waardenburg syndrome type 4. Renal collecting duct-specific gene deletion causes sodium retention and hypertension. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001129533", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129533" } ] } ], "disease": [ { "disease_id": "DOID:0050600", "recommended_name": { "id": "DOID:0050600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050600", "name": "ABCD syndrome", "description": "A syndrome that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB)." }, "synonyms": [ { "id": "DOID:0050600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050600", "name": "ABCDS", "description": "" }, { "id": "DOID:0050600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050600", "name": "albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness", "description": "" }, { "id": "MONDO:0010895", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010895", "name": "ABCD syndrome", "description": "An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB)." }, { "id": "MONDO:0010895", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010895", "name": "ABCD syndrome", "description": "" }, { "id": "MONDO:0010895", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010895", "name": "albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness", "description": "" }, { "id": "MONDO:0010895", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010895", "name": "ABCDS", "description": "" }, { "id": "MONDO:0010895", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010895", "name": "albinism, black lock, cell migration disorder of the Neurocytes of the gut, and deafness", "description": "" }, { "id": "MIM:600501", "resource": "MIM", "url": "https://www.omim.org/entry/600501", "name": "ABCD syndrome", "description": "ABCD syndrome" } ], "evidence": [ { "id": "0050600", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050600" } ] }, { "disease_id": "DOID:0110953", "recommended_name": { "id": "DOID:0110953", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110953", "name": "Waardenburg syndrome type 4A", "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 heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22." }, "synonyms": [ { "id": "DOID:0110953", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110953", "name": "WS4A", "description": "" }, { "id": "DOID:0110953", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110953", "name": "Waardenburg syndrome type IVA", "description": "" }, { "id": "DOID:0110953", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110953", "name": "Waardenburg syndrome with Hirschsprung disease type 4A", "description": "" }, { "id": "MONDO:0010192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010192", "name": "Waardenburg syndrome type 4A", "description": "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB." }, { "id": "MONDO:0010192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010192", "name": "EDNRB Waardenburg syndrome", "description": "" }, { "id": "MONDO:0010192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010192", "name": "WS4A", "description": "" }, { "id": "MONDO:0010192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010192", "name": "Waardenburg syndrome caused by mutation in EDNRB", "description": "" }, { "id": "MONDO:0010192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010192", "name": "Waardenburg syndrome type 4A", "description": "" }, { "id": "MONDO:0010192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010192", "name": "Waardenburg syndrome type IVA", "description": "" }, { "id": "MONDO:0010192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010192", "name": "Waardenburg syndrome with Hirschsprung disease type 4A", "description": "" }, { "id": "MONDO:0010192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010192", "name": "Shah-Waardenburg syndrome", "description": "" }, { "id": "MONDO:0010192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010192", "name": "Waardenburg syndrome with Hirschsprung disease, type 4A", "description": "" }, { "id": "MONDO:0010192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010192", "name": "Waardenburg syndrome, type 4A", "description": "" }, { "id": "MONDO:0010192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010192", "name": "Waardenburg-Shah syndrome", "description": "" }, { "id": "MONDO:0010192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010192", "name": "Ws4", "description": "" }, { "id": "MIM:277580", "resource": "MIM", "url": "https://www.omim.org/entry/277580", "name": "Waardenburg syndrome 4A", "description": "Waardenburg syndrome 4A" } ], "evidence": [ { "id": "0110953", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110953" } ] }, { "disease_id": "DOID:10003", "recommended_name": { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "sensorineural hearing loss", "description": "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem." }, "synonyms": [ { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "High Frequency Hearing Loss", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "High frequency deafness", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "Perceptive deafness", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "Perceptive hearing loss", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "Perceptive hearing loss or deafness", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "Sensorineural Deafness", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "Sensory hearing loss", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "central hearing loss", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "high-frequency hearing loss", "description": "" } ], "evidence": [ { "id": "10003", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10003" } ] }, { "disease_id": "DOID:10487", "recommended_name": { "id": "DOID:10487", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10487", "name": "Hirschsprung's disease", "description": "A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel." }, "synonyms": [ { "id": "DOID:10487", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10487", "name": "Hirschsprung disease", "description": "" }, { "id": "DOID:10487", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10487", "name": "aganglionic megacolon", "description": "" }, { "id": "DOID:10487", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10487", "name": "congenital megacolon", "description": "" }, { "id": "DOID:10487", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10487", "name": "macrocolon", "description": "" }, { "id": "DOID:10487", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10487", "name": "pelvirectal achalasia", "description": "" }, { "id": "DOID:10487", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10487", "name": "total intestinal aganglionosis", "description": "" }, { "id": "MONDO:0010834", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010834", "name": "Hirschsprung disease, susceptibility to, 5", "description": "" }, { "id": "MONDO:0010834", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010834", "name": "HSCR5", "description": "" }, { "id": "MONDO:0010834", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010834", "name": "Hirschsprung disease, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012042", "name": "Hirschsprung disease, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012042", "name": "HSCR8", "description": "" }, { "id": "MONDO:0012042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012042", "name": "Hirschsprung disease, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012710", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012710", "name": "Hirschsprung disease, susceptibility to, 9", "description": "" }, { "id": "MONDO:0012710", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012710", "name": "HSCR9", "description": "" }, { "id": "MONDO:0012710", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012710", "name": "Hirschsprung disease, susceptibility to, 9", "description": "" }, { "id": "MONDO:0011742", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011742", "name": "Hirschsprung disease, susceptibility to, 7", "description": "" }, { "id": "MONDO:0011742", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011742", "name": "HSCR7", "description": "" }, { "id": "MONDO:0011742", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011742", "name": "Hirschsprung disease, susceptibility to, 7", "description": "" }, { "id": "MONDO:0011741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011741", "name": "Hirschsprung disease, susceptibility to, 6", "description": "" }, { "id": "MONDO:0011741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011741", "name": "HSCR6", "description": "" }, { "id": "MONDO:0011741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011741", "name": "Hirschsprung disease, susceptibility to, 6", "description": "" } ], "evidence": [ { "id": "10487", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10487" } ] }, { "disease_id": "DOID:10762", "recommended_name": { "id": "DOID:10762", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10762", "name": "portal hypertension", "description": "" }, "synonyms": [], "evidence": [ { "id": "10762", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ] }, { "disease_id": "DOID:10763", "recommended_name": { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries." }, "synonyms": [ { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "HTN", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "hyperpiesia", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "vascular hypertensive disorder", "description": "" } ], "evidence": [ { "id": "10763", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ] }, { "disease_id": "DOID:11372", "recommended_name": { "id": "DOID:11372", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11372", "name": "megacolon", "description": "A colonic disease that is characterized by an abnormal dilation of the colon." }, "synonyms": [ { "id": "DOID:11372", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11372", "name": "Dilatation of colon", "description": "" } ], "evidence": [ { "id": "11372", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11372" } ] }, { "disease_id": "DOID:2841", "recommended_name": { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing." }, "synonyms": [ { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "Exercise induced asthma", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "bronchial hyperreactivity", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma with acute exacerbation", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma with status asthmaticus", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "exercise-induced asthma", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "inherited susceptibility to asthma", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, nocturnal, susceptibility to", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, bronchial", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, diminished response to Antileukotriene treatment 1N", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, protection against", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, susceptibility to", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma-related traits, susceptibility to", "description": "" }, { "id": "MIM:600807", "resource": "MIM", "url": "https://www.omim.org/entry/600807", "name": "Asthma", "description": "Asthma" } ], "evidence": [ { "id": "2841", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ] }, { "disease_id": "DOID:5844", "recommended_name": { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia." }, "synonyms": [ { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "Myocardial infarct", "description": "" }, { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "heart attack", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "Mci2", "description": "" } ], "evidence": [ { "id": "5844", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ] }, { "disease_id": "DOID:614", "recommended_name": { "id": "DOID:614", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:614", "name": "lymphopenia", "description": "A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood." }, "synonyms": [ { "id": "DOID:614", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:614", "name": "Lymphocytopenia", "description": "" } ], "evidence": [ { "id": "614", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:614" } ] }, { "disease_id": "DOID:6432", "recommended_name": { "id": "DOID:6432", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries." }, "synonyms": [], "evidence": [ { "id": "6432", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ] }, { "disease_id": "DOID:900", "recommended_name": { "id": "DOID:900", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:900", "name": "hepatopulmonary syndrome", "description": "" }, "synonyms": [], "evidence": [ { "id": "900", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:900" } ] }, { "disease_id": "DOID:9258", "recommended_name": { "id": "DOID:9258", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9258", "name": "Waardenburg syndrome", "description": "A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes." }, "synonyms": [ { "id": "DOID:9258", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9258", "name": "Waardenburg Shah syndrome", "description": "" }, { "id": "DOID:9258", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9258", "name": "van der Hoeve Halbertsona Waardenburg syndrome", "description": "" }, { "id": "DOID:9258", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9258", "name": "Waardenburg's syndrome", "description": "" }, { "id": "MONDO:0008670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008670", "name": "Waardenburg syndrome type 1", "description": "Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." }, { "id": "MONDO:0008670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008670", "name": "WS1", "description": "" }, { "id": "MONDO:0008670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008670", "name": "Waardenburg syndrome type 1", "description": "" }, { "id": "MONDO:0008670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008670", "name": "Waardenburg syndrome type I", "description": "" }, { "id": "MONDO:0008670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008670", "name": "Waardenburg syndrome with dystopia canthorum", "description": "" }, { "id": "MONDO:0008670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008670", "name": "Waardenburg syndrome, type 1", "description": "" }, { "id": "MONDO:0008670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008670", "name": "Waardenburg's syndrome type 1", "description": "" }, { "id": "MIM:193500", "resource": "MIM", "url": "https://www.omim.org/entry/193500", "name": "Waardenburg syndrome 1", "description": "Waardenburg syndrome 1" } ], "evidence": [ { "id": "9258", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9258" } ] }, { "disease_id": "DOID:9352", "recommended_name": { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin." }, "synonyms": [ { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "NIDDM", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "non-insulin-dependent diabetes mellitus", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type 2 diabetes", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type II diabetes mellitus", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "insulin resistance", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, type 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "Niddm4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "noninsulin-dependent diabetes mellitus 4", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus", "description": "A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "NIDDM", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "T2DM - type 2 diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "adult onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "adult-onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitis type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitis type II", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, association with", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, late onset", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type II", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes, type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "insulin resistance, severe, digenic", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin dependent diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin-dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "noninsulin dependent diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "noninsulin-dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus non-insulin dependent", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type II diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type II diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, non-insulin-dependent, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2, protection against", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type II, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "hypertension, insulin resistance-related, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "insulin resistance, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "maturity-onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus, susceptibility to", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, type 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "NIDDM1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": 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"resource": "MIM", "url": "https://www.omim.org/entry/601283", "name": "Type 2 diabetes mellitus 1", "description": "Type 2 diabetes mellitus 1" } ], "evidence": [ { "id": "9352", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P48302", "url": "https://www.uniprot.org/uniprot/P48302" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Ednrb", "url": "https://www.uniprot.org/uniprot/P48302", "locus": { "chromosome": "14", "start_pos": 104052061, "end_pos": 104081838, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000022122", "url": "https://www.ensembl.org/id/ENSMUSG00000022122" } ] } } ], "crossref": [ { "id": "ENSMUSG00000022122", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000022122", "database": 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], "sequence": { "sequence": "MQSPASRCGRALVALLLACGFLGVWGEKRGFPPAQATLSLLGTKEVMTPPTKTSWTRGSNSSLMRSSAPAEVTKGGRGAGVPPRSFPPPCQRNIEISKTFKYINTIVSCLVFVLGIIGNSTLLRIIYKNKCMRNGPNILIASLALGDLLHIIIDIPINTYKLLAEDWPFGAEMCKLVPFIQKASVGITVLSLCALSIDRYRAVASWSRIKGIGVPKWTAVEIVLIWVVSVVLAVPEAIGFDMITSDYKGKPLRVCMLNPFQKTAFMQFYKTAKDWWLFSFYFCLPLAITAVFYTLMTCEMLRKKSGMQIALNDHLKQRREVAKTVFCLVLVFALCWLPLHLSRILKLTLYDQSNPHRCELLSFLLVLDYIGINMASLNSCINPIALYLVSKRFKNCFKSCLCCWCQTFEEKQSLEEKQSCLKFKANDHGYDNFRSSNKYSSS", "length": 442, "header": "sp|P48302-1|EDNRB_MOUSE Isoform 1 of Endothelin receptor type B OS=Mus musculus OX=10090 GN=Ednrb PE=2 SV=1 CANONICAL=P48302-1" }, "isoforms": [ { "isoform_ac": "P48302-1", "url": "", "sequence": { "sequence": 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reports", "date": "2022-11-17", "authors": "Xu Guoxin, Gong Yanping, Lu Fenying, Wang Bin, Yang Zaixing, Chen Long, Min Jingyu, Cheng Cuie, Jiang Tingwang", "evidence": [ { "database": "RefSeq", "id": "NP_001129533", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129533" } ], "reference": [ { "type": "PubMed", "id": "36396948", "url": "https://glygen.org/publication/PubMed/36396948" } ] }, { "title": "Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice.", "journal": "Cell", "date": "1994", "authors": "Richardson J.A., Yanagisawa M., Hosoda K., Hammer R.E., Baynash A.G., Cheung J.C., Giaid A.", "evidence": [ { "database": "UniProtKB", "id": "P48302", "url": "https://www.uniprot.org/uniprot/P48302" } ], "reference": [ { "type": "PubMed", "id": "8001159", "url": "https://glygen.org/publication/PubMed/8001159" } ] } ], "pathway": [ { "id": "mmu:13618", "name": "", "url": 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"UniProtKB", "id": "P48302", "url": "https://www.uniprot.org/uniprot/P48302" } ], "pmid": "" }, { "name": "establishment of endothelial barrier", "id": "GO:0061028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061028", "evidence": [ { "database": "UniProtKB", "id": "P48302", "url": "https://www.uniprot.org/uniprot/P48302" } ], "pmid": "" }, { "name": "response to endothelin", "id": "GO:1990839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990839", "evidence": [ { "database": "UniProtKB", "id": "P48302", "url": "https://www.uniprot.org/uniprot/P48302" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "P48302", "url": "https://www.uniprot.org/uniprot/P48302" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007422", "evidence": [ { "database": "UniProtKB", "id": "P48302", "url": "https://www.uniprot.org/uniprot/P48302" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "P48302", "url": "https://www.uniprot.org/uniprot/P48302" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "P48302", "url": "https://www.uniprot.org/uniprot/P48302" } ], "pmid": "" }, { "name": "I-kappaB kinase/NF-kappaB signaling", "id": "GO:0007249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007249", "evidence": [ { "database": "UniProtKB", "id": "P48302", "url": "https://www.uniprot.org/uniprot/P48302" } ], "pmid": "" }, { "name": "regulation of heart rate", "id": "GO:0002027", "url": 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