{ "uniprot_canonical_ac": "A0A8I5ZRF2-1", "uniprot_ac": "A0A8I5ZRF2", "uniprot_id": "A0A8I5ZRF2_RAT", "mass": { "chemical_mass": 61090.0, "monoisotopic_mass": 61090.0 }, "refseq": { "ac": "NP_001012487", "name": "interleukin-21 receptor precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012487" }, "gene_names": [ { "name": "Il21r", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A8I5ZRF2", "id": "A0A8I5ZRF2" }, { "name": "Il21r", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012487", "id": "NP_001012487" }, { "name": "rCG_40331", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A8I5ZRF2", "id": "A0A8I5ZRF2" } ], "protein_names": [ { "name": "Interleukin 21 receptor", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A8I5ZRF2#names_and_taxonomy", "id": "A0A8I5ZRF2" }, { "name": "interleukin-21 receptor precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012487", "id": "NP_001012487" } ], "function": [], "disease": [ { "disease_id": "DOID:0050589", "recommended_name": { "id": "DOID:0050589", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract." }, "synonyms": [ { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "inflammatory bowel disease 1", "description": "Any inflammatory bowel disease in which the cause of the disease is a mutation in the NOD2 gene." }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "Crohn disease-associated Growth failure, susceptibility to", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "inflammatory bowel disease caused by mutation in NOD2", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "regional enteritis", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "NOD2 inflammatory bowel disease", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "pediatric ulcerative colitis", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "inflammatory bowel disease (Crohn disease) 1", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "inflammatory bowel disease type 1", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "inflammatory bowel disease 1", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "inflammatory bowel disease 1; IBD1", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "IBD1", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "inflammatory bowel disease (Crohn disease) 1; IBD1", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "ulcerative colitis, pediatric", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "Crohn disease", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "ulcerative colitis", "description": "" }, { "id": "MIM:266600", "resource": "MIM", "url": "https://www.omim.org/entry/266600", "name": "Inflammatory bowel disease 1", "description": "Inflammatory bowel disease 1" } ], "evidence": [ { "id": "0050589", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ] }, { "disease_id": "DOID:0050745", "recommended_name": { "id": "DOID:0050745", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050745", "name": "diffuse large B-cell lymphoma", "description": "A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body." }, "synonyms": [], "evidence": [ { "id": "0050745", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050745" } ] }, { "disease_id": "DOID:0111982", "recommended_name": { "id": "DOID:0111982", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111982", "name": "immunodeficiency 56", "description": "A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, and variable dysfunction of NK cells that has_material_basis_in homozygous or compound heterozygous mutation in IL21R on chromosome 16p12.1." }, "synonyms": [ { "id": "DOID:0111982", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111982", "name": "IL21R immunodeficiency", "description": "" }, { "id": "DOID:0111982", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111982", "name": "IMD56", "description": "" }, { "id": "DOID:0111982", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111982", "name": "combined immunodeficiency due to IL21R deficiency", "description": "" }, { "id": "MONDO:0014082", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014082", "name": "cryptosporidiosis-chronic cholangitis-liver disease syndrome", "description": "" }, { "id": "MONDO:0014082", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014082", "name": "immunodeficiency 56", "description": "" }, { "id": "MONDO:0014082", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014082", "name": "IL21R immunodeficiency", "description": "" }, { "id": "MONDO:0014082", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014082", "name": "immunodeficiency 56; IMD56", "description": "" }, { "id": "MONDO:0014082", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014082", "name": "IMD56", "description": "" }, { "id": "MIM:615207", "resource": "MIM", "url": "https://www.omim.org/entry/615207", "name": "Immunodeficiency 56", "description": "Immunodeficiency 56" } ], "evidence": [ { "id": "0111982", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111982" } ] }, { "disease_id": "DOID:12177", "recommended_name": { "id": "DOID:12177", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12177", "name": "common variable immunodeficiency", "description": "An agammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells." }, "synonyms": [ { "id": "DOID:12177", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12177", "name": "CVID", "description": "" }, { "id": "DOID:12177", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12177", "name": "acquired agammaglobulinemia", "description": "" }, { "id": "DOID:12177", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12177", "name": "acquired hypogammaglobulinemia", "description": "" }, { "id": "DOID:12177", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12177", "name": "common variable agammaglobulinemia", "description": "" }, { "id": "DOID:12177", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12177", "name": "sporadic hypogammaglobulinemia", "description": "" }, { "id": "MONDO:0014260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014260", "name": "immunodeficiency, common variable, 10", "description": "Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene." }, { "id": "MONDO:0014260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014260", "name": "NFKB2 common variable immunodeficiency", "description": "" }, { "id": "MONDO:0014260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014260", "name": "immunodeficiency, common variable, type 10", "description": "" }, { "id": "MONDO:0014260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014260", "name": "immunodeficiency, common variable, with central adrenal insufficiency", "description": "" }, { "id": "MONDO:0014260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014260", "name": "immunodeficiency, common variable, 10; CVID10", "description": "" }, { "id": "MONDO:0014260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014260", "name": "immunodeficiency, common variable, 10", "description": "" }, { "id": "MONDO:0014260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014260", "name": "Deficit in anterior pituitary function and variable immunodeficiency", "description": "" }, { "id": "MONDO:0014260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014260", "name": "CVID10", "description": "" }, { "id": "MONDO:0014260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014260", "name": "common variable immunodeficiency caused by mutation in NFKB2", "description": "" }, { "id": "MONDO:0014338", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014338", "name": "IL21-related infantile inflammatory bowel disease", "description": "" }, { "id": "MONDO:0014338", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014338", "name": "immunodeficiency, common variable, 11", "description": "" }, { "id": "MONDO:0014338", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014338", "name": "immunodeficiency, common variable, type 11", "description": "" }, { "id": "MONDO:0014338", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014338", "name": "IL21-related infantile IBD", "description": "" }, { "id": "MONDO:0014338", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014338", "name": "immunodeficiency, common variable, 11; CVID11", "description": "" }, { "id": "MONDO:0014338", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014338", "name": "CVID11", "description": "" }, { "id": "MONDO:0014338", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014338", "name": "IL21 deficiency", "description": "" }, { "id": "MONDO:0013284", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013284", "name": "immunodeficiency, common variable, 4", "description": "" }, { "id": "MONDO:0013284", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013284", "name": "immunodeficiency, common variable, 4; CVID4", "description": "" }, { "id": "MONDO:0013284", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013284", "name": "immunodeficiency, common variable, 4", "description": "" }, { "id": "MONDO:0013284", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013284", "name": "immunodeficiency, common variable, type 4", "description": "" }, { "id": "MONDO:0013284", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013284", "name": "CVID4", "description": "" }, { "id": "MONDO:0013284", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013284", "name": "antibody deficiency due to Baffr defect", "description": "" }, { "id": "MONDO:0009413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009413", "name": "immunodeficiency, common variable, 2", "description": "" }, { "id": "MONDO:0009413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009413", "name": "hypogammaglobulinemia due to TACI deficiency", "description": "" }, { "id": "MONDO:0009413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009413", "name": "antibody deficiency due to TACI defect", "description": "" }, { "id": "MONDO:0009413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009413", "name": "immunodeficiency, common variable, type 2", "description": "" }, { "id": "MONDO:0009413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009413", "name": "CVID2", "description": "" }, { "id": "MONDO:0009413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009413", "name": "immunodeficiency, common variable, 2; CVID2", "description": "" }, { "id": "MONDO:0009413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009413", "name": "immunodeficiency, common variable, 2", "description": "" }, { "id": "MONDO:0011864", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011864", "name": "immunodeficiency, common variable, 1", "description": "" }, { "id": "MONDO:0011864", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011864", "name": "immunodeficiency, common variable, 1; CVID1", "description": "" }, { "id": "MONDO:0011864", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011864", "name": "immunodeficiency, common variable", "description": "" }, { "id": "MONDO:0011864", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011864", "name": "immunodeficiency, common variable, 1", "description": "" }, { "id": "MONDO:0011864", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011864", "name": "antibody deficiency due to Icos defect", "description": "" }, { "id": "MONDO:0011864", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011864", "name": "immunodeficiency, common variable, type 1", "description": "" }, { "id": "MONDO:0011864", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011864", "name": "CVID1", "description": "" }, { "id": "MONDO:0013862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013862", "name": "immunodeficiency, common variable, 7", "description": "" }, { "id": "MONDO:0013862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013862", "name": "immunodeficiency, common variable, 7", "description": "" }, { "id": "MONDO:0013862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013862", "name": "immunodeficiency, common variable, 7; CVID7", "description": "" }, { "id": "MONDO:0013862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013862", "name": "CVID7", "description": "" }, { "id": "MONDO:0013862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013862", "name": "immunodeficiency, common variable, type 7", "description": "" }, { "id": "MONDO:0013863", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013863", "name": "combined immunodeficiency due to LRBA deficiency", "description": "" }, { "id": "MONDO:0013863", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013863", "name": "immunodeficiency, common variable, 8, with autoimmunity", "description": "" }, { "id": "MONDO:0013863", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013863", "name": "CVID8", "description": "" }, { "id": "MONDO:0013863", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013863", "name": "Cid due to LRBA deficiency", "description": "" }, { "id": "MONDO:0013863", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013863", "name": "immunodeficiency, common variable, 8, with autoimmunity; CVID8", "description": "" }, { "id": "MONDO:0013283", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013283", "name": "immunodeficiency, common variable, 3", "description": "" }, { "id": "MONDO:0013283", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013283", "name": "immunodeficiency, common variable, type 3", "description": "" }, { "id": "MONDO:0013283", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013283", "name": "CVID3", "description": "" }, { "id": "MONDO:0013283", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013283", "name": "antibody deficiency due to CD19 defect", "description": "" }, { "id": "MONDO:0013283", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013283", "name": "immunodeficiency, common variable, 3; CVID3", "description": "" }, { "id": "MONDO:0013283", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013283", "name": "immunodeficiency, common variable, 3", "description": "" }, { "id": "MONDO:0013286", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013286", "name": "immunodeficiency, common variable, 6", "description": "Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene." }, { "id": "MONDO:0013286", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013286", "name": "CD81 common variable immunodeficiency", "description": "" }, { "id": "MONDO:0013286", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013286", "name": "immunodeficiency, common variable, 6", "description": "" }, { "id": "MONDO:0013286", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013286", "name": "antibody deficiency due to CD81 defect", "description": "" }, { "id": "MONDO:0013286", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013286", "name": "immunodeficiency, common variable, 6; CVID6", "description": "" }, { "id": "MONDO:0013286", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013286", "name": "immunodeficiency, common variable, type 6", "description": "" }, { "id": "MONDO:0013286", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013286", "name": "CVID6", "description": "" }, { "id": "MONDO:0013286", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013286", "name": "common variable immunodeficiency caused by mutation in CD81", "description": "" }, { "id": "MONDO:0013285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013285", "name": "immunodeficiency, common variable, 5", "description": "Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene." }, { "id": "MONDO:0013285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013285", "name": "immunodeficiency, common variable, 5", "description": "" }, { "id": "MONDO:0013285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013285", "name": "immunodeficiency, common variable, 5; CVID5", "description": "" }, { "id": "MONDO:0013285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013285", "name": "MS4A1 common variable immunodeficiency", "description": "" }, { "id": "MONDO:0013285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013285", "name": "antibody deficiency due to CD20 defect", "description": "" }, { "id": "MONDO:0013285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013285", "name": "immunodeficiency, common variable, type 5", "description": "" }, { "id": "MONDO:0013285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013285", "name": "CVID5", "description": "" }, { "id": "MONDO:0013285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013285", "name": "common variable immunodeficiency caused by mutation in MS4A1", "description": "" }, { "id": "MIM:615577", "resource": "MIM", "url": "https://www.omim.org/entry/615577", "name": "Immunodeficiency, common variable, 10", "description": "Immunodeficiency, common variable, 10" }, { "id": "MIM:615767", "resource": "MIM", "url": "https://www.omim.org/entry/615767", "name": "Immunodeficiency, common variable, 11", "description": "Immunodeficiency, common variable, 11" }, { "id": "MIM:613494", "resource": "MIM", "url": "https://www.omim.org/entry/613494", "name": "Immunodeficiency, common variable, 4", "description": "Immunodeficiency, common variable, 4" }, { "id": "MIM:240500", "resource": "MIM", "url": "https://www.omim.org/entry/240500", "name": "Immunodeficiency, common variable, 2", "description": "Immunodeficiency, common variable, 2" }, { "id": "MIM:607594", "resource": "MIM", "url": "https://www.omim.org/entry/607594", "name": "Immunodeficiency, common variable, 1", "description": "Immunodeficiency, common variable, 1" }, { "id": "MIM:614699", "resource": "MIM", "url": "https://www.omim.org/entry/614699", "name": "Immunodeficiency, common variable, 7", "description": "Immunodeficiency, common variable, 7" }, { "id": "MIM:614700", "resource": "MIM", "url": "https://www.omim.org/entry/614700", "name": "Immunodeficiency, common variable, 8, with autoimmunity", "description": "Immunodeficiency, common variable, 8, with autoimmunity" }, { "id": "MIM:613493", "resource": "MIM", "url": "https://www.omim.org/entry/613493", "name": "Immunodeficiency, common variable, 3", "description": "Immunodeficiency, common variable, 3" }, { "id": "MIM:613496", "resource": "MIM", "url": "https://www.omim.org/entry/613496", "name": "Immunodeficiency, common variable, 6", "description": "Immunodeficiency, common variable, 6" }, { "id": "MIM:613495", "resource": "MIM", "url": "https://www.omim.org/entry/613495", "name": "Immunodeficiency, common variable, 5", "description": "Immunodeficiency, common variable, 5" } ], "evidence": [ { "id": "12177", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12177" } ] }, { "disease_id": "DOID:13241", "recommended_name": { "id": "DOID:13241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13241", "name": "Behcet's disease", "description": "A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis." }, "synonyms": [ { "id": "DOID:13241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13241", "name": "Adamantiades-Behcet disease", "description": "" }, { "id": "DOID:13241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13241", "name": "Behcet syndrome", "description": "" }, { "id": "DOID:13241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13241", "name": "Behet's syndrome", "description": "" }, { "id": "DOID:13241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13241", "name": "triple symptom complex", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behcet disease", "description": "Bechet disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations." }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behet-Adamantiades syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behet syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "BD", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behet disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behcet's syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Adamantiades-Behcet disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behcet disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Bechet syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "triple symptom complex", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behcet's disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behet's syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "silk road disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behcet syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behet's disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behets disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Morbus Behet's syndrome", "description": "" } ], "evidence": [ { "id": "13241", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ] }, { "disease_id": "DOID:13375", "recommended_name": { "id": "DOID:13375", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13375", "name": "temporal arteritis", "description": "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head." }, "synonyms": [ { "id": "DOID:13375", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13375", "name": "Giant cell Arteritis", "description": "" }, { "id": "DOID:13375", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13375", "name": "Giant cell arteritis", "description": "" }, { "id": "DOID:13375", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13375", "name": "Horton's disease", "description": "" }, { "id": "DOID:13375", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13375", "name": "Temporal arteritis", "description": "" }, { "id": "DOID:13375", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13375", "name": "giant cell arteritis", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "temporal arteritis", "description": "Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries." }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "Horton's temporal arteritis", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "polymyalgia rheumatica", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "Hortons syndrome", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "temporal arteritis", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "Horton's giant cell arteritis", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "Horton disease", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "Hortons disease", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "temporal artery inflammation", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "cranial arteritis", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "Horton's arteritis", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "arteritis cranialis", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "arteritis temporalis", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "Horton's disease", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "giant cell arteritis", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "GCA", "description": "" }, { "id": "MONDO:0008538", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008538", "name": "inflammation of temporal artery", "description": "" } ], "evidence": [ { "id": "13375", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13375" } ] }, { "disease_id": "DOID:2377", "recommended_name": { "id": "DOID:2377", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring." }, "synonyms": [ { "id": "DOID:2377", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2377", "name": "Generalized multiple sclerosis", "description": "" }, { "id": "DOID:2377", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2377", "name": "insular sclerosis", "description": "" }, { "id": "MONDO:0012957", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012957", "name": "multiple sclerosis, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012957", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012957", "name": "multiple sclerosis, susceptibility to, 3; MS3", "description": "" }, { "id": "MONDO:0012957", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012957", "name": "MS3", "description": "" }, { "id": "MONDO:0012957", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012957", "name": "multiple sclerosis, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012956", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012956", "name": "multiple sclerosis, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012956", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012956", "name": "MS2", "description": "" }, { "id": "MONDO:0012956", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012956", "name": "multiple sclerosis, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012956", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012956", "name": "multiple sclerosis, susceptibility to, 2; MS2", "description": "" }, { "id": "MONDO:0012958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012958", "name": "multiple sclerosis, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012958", "name": "multiple sclerosis, susceptibility to, 4; MS4", "description": "" }, { "id": "MONDO:0012958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012958", "name": "MS4", "description": "" }, { "id": "MONDO:0012958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012958", "name": "multiple sclerosis, susceptibility to, 4", "description": "" }, { "id": "MIM:612595", "resource": "MIM", "url": "https://www.omim.org/entry/612595", "name": "Multiple sclerosis 3", "description": "Multiple sclerosis 3" } ], "evidence": [ { "id": "2377", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ] }, { "disease_id": "DOID:3310", "recommended_name": { "id": "DOID:3310", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking." }, "synonyms": [ { "id": "DOID:3310", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3310", "name": "Atopic dermatitis", "description": "" }, { "id": "DOID:3310", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3310", "name": "Atopic neurodermatitis", "description": "" }, { "id": "DOID:3310", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3310", "name": "Besnier's prurigo", "description": "" }, { "id": "DOID:3310", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3310", "name": "allergic dermatitis", "description": "" }, { "id": "DOID:3310", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3310", "name": "atopic eczema", "description": "" }, { "id": "MONDO:0011292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011292", "name": "dermatitis, atopic", "description": "" }, { "id": "MONDO:0011292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011292", "name": "Atod", "description": "" }, { "id": "MONDO:0011292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011292", "name": "dermatitis, Atopic, 1", "description": "" }, { "id": "MONDO:0011292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011292", "name": "eczema, Atopic", "description": "" }, { "id": "MONDO:0011292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011292", "name": "dermatitis, atopic", "description": "" } ], "evidence": [ { "id": "3310", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ] }, { "disease_id": "DOID:526", "recommended_name": { "id": "DOID:526", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands." }, "synonyms": [ { "id": "DOID:526", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:526", "name": "HIV infection", "description": "" } ], "evidence": [ { "id": "526", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:526" } ] }, { "disease_id": "DOID:707", "recommended_name": { "id": "DOID:707", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:707", "name": "B-cell lymphoma", "description": "A non-Hodgkin lymphoma that has_material_basis_in B cells." }, "synonyms": [ { "id": "DOID:707", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:707", "name": "B-cell lymphocytic neoplasm", "description": "" } ], "evidence": [ { "id": "707", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:707" } ] }, { "disease_id": "DOID:8778", "recommended_name": { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine." }, "synonyms": [ { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Crohn disease", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Crohn's disease of colon", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Crohn's disease of large bowel", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Granulomatous Colitis", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Pediatric Crohn's disease", "description": "" } ], "evidence": [ { "id": "8778", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ] }, { "disease_id": "DOID:9074", "recommended_name": { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart." }, "synonyms": [ { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "Lupus Erythematosus, systemic", "description": "" }, { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "SLE - Lupus Erythematosus, systemic", "description": "" }, { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "disseminated lupus erythematosus", "description": "" }, { "id": "MONDO:0012361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012361", "name": "SLEB5", "description": "" }, { "id": "MONDO:0012361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012361", "name": "SLEB5", "description": "" }, { "id": "MONDO:0012361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012361", "name": "systemic lupus erythematosus, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012361", "name": "systemic lupus erythematosus, susceptibility to, 5; SLEB5", "description": "" }, { "id": "MONDO:0012404", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012404", "name": "SLEB8", "description": "" }, { "id": "MONDO:0012404", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012404", "name": "systemic lupus erythematosus, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012404", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012404", "name": "systemic lupus erythematosus, susceptibility to, 8; SLEB8", "description": "" }, { "id": "MONDO:0012404", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012404", "name": "SLEB8", "description": "" }, { "id": "MONDO:0012403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012403", "name": "SLEB7", "description": "" }, { "id": "MONDO:0012403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012403", "name": "systemic lupus erythematosus, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012403", "name": "systemic lupus erythematosus, susceptibility to, 7; SLEB7", "description": "" }, { "id": "MONDO:0012403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012403", "name": "SLEB7", "description": "" }, { "id": "MONDO:0012836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012836", "name": "SLEB12", "description": "" }, { "id": "MONDO:0012836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012836", "name": "SLEB12", "description": "" }, { "id": "MONDO:0012836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012836", "name": "systemic lupus erythematosus, susceptibility to, 12; SLEB12", "description": "" }, { "id": "MONDO:0012836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012836", "name": "systemic lupus erythematosus, susceptibility to, 12", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "autosomal systemic lupus erythematosus", "description": "An instance of systemic lupus erythematosus (disease) that is caused by an inherited modification of the individual's genome." }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "SLEB16", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "systemic lupus erythematosus 16", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "systemic lupus erythematosus type 16", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "familial systemic lupus erythematosus", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "familial SLE", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "autosomal SLE", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "hereditary systemic lupus erythematosus (disease)", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "systemic lupus erythematosus 16; SLEB16", "description": "" }, { "id": "MONDO:0010433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010433", "name": "SLEB15", "description": "" }, { "id": "MONDO:0010433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010433", "name": "SLEB15", "description": "" }, { "id": "MONDO:0010433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010433", "name": "systemic lupus erythematosus, susceptibility to, 15; SLEB15", "description": "" }, { "id": "MONDO:0010433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010433", "name": "systemic lupus erythematosus, susceptibility to, 15", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus (disease)", "description": "An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific." }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "lupus erythematosus, systemic", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus; SLE", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "SLE", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "SLE - lupus erythematosus, systemic", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "Excess LMW-DNA", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "disseminated lupus erythematosus", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "Excess lymphocyte Low molecular weight DNA", "description": "" }, { "id": "MONDO:0012036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012036", "name": "SLEB4", "description": "" }, { "id": "MONDO:0012036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012036", "name": "SLEB4", "description": "" }, { "id": "MONDO:0012036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012036", "name": "systemic lupus erythematosus, susceptibility to, 4; SLEB4", "description": "" }, { "id": "MONDO:0012036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012036", "name": "systemic lupus erythematosus, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012369", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012369", "name": "SLEB6", "description": "" }, { "id": "MONDO:0012369", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012369", "name": "SLEB6", "description": "" }, { "id": "MONDO:0012369", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012369", "name": "systemic lupus erythematosus, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012369", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012369", "name": "systemic lupus erythematosus, susceptibility to, 6; SLEB6", "description": "" }, { "id": "MONDO:0012884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012884", "name": "SLEB13", "description": "" }, { "id": "MONDO:0012884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012884", "name": "systemic lupus erythematosus, susceptibility to, 13; SLEB13", "description": "" }, { "id": "MONDO:0012884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012884", "name": "systemic lupus erythematosus, susceptibility to, 13", "description": "" }, { "id": "MONDO:0012884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012884", "name": "SLEB13", "description": "" }, { "id": "MONDO:0011560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011560", "name": "SLEB3", "description": "" }, { "id": "MONDO:0011560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011560", "name": "SLEB3", "description": "" }, { "id": "MONDO:0011560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011560", "name": "systemic lupus erythematosus, susceptibility to, 3; SLEB3", "description": "" }, { "id": "MONDO:0011560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011560", "name": "systemic lupus erythematosus, susceptibility to, 3", "description": "" }, { "id": "MONDO:0013152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "name": "SLEB14", "description": "" }, { "id": "MONDO:0013152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "name": "SLEB14", "description": "" }, { "id": "MONDO:0013152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "name": "systemic lupus erythematosus, susceptibility to, 14; SLEB14", "description": "" }, { "id": "MONDO:0013152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "name": "systemic lupus erythematosus, susceptibility to, 14", "description": "" }, { "id": "MIM:614420", "resource": "MIM", "url": "https://www.omim.org/entry/614420", "name": "Systemic lupus erythematosus 16", "description": "Systemic lupus erythematosus 16" }, { "id": "MIM:152700", "resource": "MIM", "url": "https://www.omim.org/entry/152700", "name": "Systemic lupus erythematosus", "description": "Systemic lupus erythematosus" }, { "id": "MIM:609939", "resource": "MIM", "url": "https://www.omim.org/entry/609939", "name": "Systemic lupus erythematosus 6", "description": "Systemic lupus erythematosus 6" } ], "evidence": [ { "id": "9074", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZRF2", "url": "https://www.uniprot.org/uniprot/A0A8I5ZRF2" } ], "common_name": "Rat" } ], "gene": [ { "name": "Il21r", "url": "https://www.uniprot.org/uniprot/A0A8I5ZRF2", "locus": { "chromosome": "1", "start_pos": 196996581, "end_pos": 197024166, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000015773", "url": "https://www.ensembl.org/id/ENSRNOG00000015773" } ] } } ], "crossref": [ { "id": "ENSRNOG00000015773", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000015773", "database": "Bgee" }, { "id": "cd00063", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00063", "database": "CDD" }, { "id": "308977", "url": "https://www.ncbi.nlm.nih.gov/gene/308977", "database": "GeneID" }, { "id": "IPR003531", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003531", "database": "InterPro" }, { "id": "IPR003961", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003961", "database": "InterPro" }, { "id": "IPR013783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "database": "InterPro" }, { "id": "IPR036116", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036116", "database": "InterPro" }, { "id": "rno:308977", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:308977", "database": "KEGG Pathway" }, { "id": "RFFQPLY", "url": "https://omabrowser.org/oma/group/RFFQPLY/", "database": "OMA" }, { "id": "774083at2759", "url": "http://www.orthodb.org/?query=774083at2759", "database": "OrthoDB" }, { "id": "R-RNO-9020958", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-9020958", "database": "Reactome" }, { "id": "NP_001012487", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012487", "database": "RefSeq" }, { "id": "1304950", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1304950", "database": "RGD" }, { "id": "A0A8I5ZRF2", "url": "https://www.uniprot.org/uniprot/A0A8I5ZRF2", "database": "UniProtKB" }, { "id": "A0A8I5ZRF2-1", "url": "https://www.uniprot.org/uniprot/A0A8I5ZRF2-1", "database": "UniProtKB" }, { "id": "A0A8I6AER5", "url": "https://www.uniprot.org/uniprot/A0A8I6AER5", "database": "UniProtKB" }, { "id": "A0A8I6AER5-1", "url": "https://www.uniprot.org/uniprot/A0A8I6AER5-1", "database": "UniProtKB" }, { "id": "A0A8I6ASZ0", "url": "https://www.uniprot.org/uniprot/A0A8I6ASZ0", "database": "UniProtKB" }, { "id": "A0A8I6ASZ0-1", "url": "https://www.uniprot.org/uniprot/A0A8I6ASZ0-1", "database": "UniProtKB" }, { "id": "Q5EBB1", "url": "https://www.uniprot.org/uniprot/Q5EBB1", "database": "UniProtKB" }, { "id": "Q5EBB1-1", "url": "https://www.uniprot.org/uniprot/Q5EBB1-1", "database": "UniProtKB" } ], "sequence": { "sequence": "MWQGQTLGWEATQYMASAGSPHIPHTFLAGLGHSMPRGLAAPLLLLILHGGWSCLDLTCYTDYLWTITCVLETWSPNPSILSLTWQDEYEELQDKETSCSLHASGHNTTHMWYTCHMRLSQFMSDDVFTVNMMDQSSNSSQECGSFVLAESIKPAPPLNVTVTFSGRYDISWDSIYEEPSNYVLRGKLQYELQYRNLRDPYAVRPVTKLISVDSRNISLLPQEFQKDSSYQLQVRAAPQPGTSFRGTWSEWSDPIIFQTQAEEPEAGWDPHVLLLLAVLILVLVFMGLKNHLPWRLCKKIWAPVPTPESFFQPLYREHSGNFKKWVNTPFTASSVELGPQSPTTSVLHLSLYPAKGKKFLGPLGLEEQLECDGMSGPGHKCQGVSAYSEERDRPYGLVSIDTVTVGDAEGLGAWPFSCEDDGYPALNLDAVRESGPNGEDLLLVTDPAFLSCGCVSGSGLRLGGSPGSLLDRLRLSFAKEGDWTAGPPWRTGSLEGGSESEAGSPPGLDMDTFDSGFAGSDCGSPVETDEGPPRSYLRQWVVRTPPPVDSGAQNS", "length": 555, "header": "tr|A0A8I5ZRF2-1|A0A8I5ZRF2_RAT Isoform 1 of Interleukin 21 receptor OS=Rattus norvegicus OX=10116 GN=Il21r PE=4 SV=1 CANONICAL=A0A8I5ZRF2-1" }, "isoforms": [ { "isoform_ac": "A0A8I5ZRF2-1", "url": "https://www.uniprot.org/uniprot/A0A8I5ZRF2#A0A8I5ZRF2-1", "sequence": { "sequence": "MWQGQTLGWEATQYMASAGSPHIPHTFLAGLGHSMPRGLAAPLLLLILHGGWSCLDLTCYTDYLWTITCVLETWSPNPSILSLTWQDEYEELQDKETSCSLHASGHNTTHMWYTCHMRLSQFMSDDVFTVNMMDQSSNSSQECGSFVLAESIKPAPPLNVTVTFSGRYDISWDSIYEEPSNYVLRGKLQYELQYRNLRDPYAVRPVTKLISVDSRNISLLPQEFQKDSSYQLQVRAAPQPGTSFRGTWSEWSDPIIFQTQAEEPEAGWDPHVLLLLAVLILVLVFMGLKNHLPWRLCKKIWAPVPTPESFFQPLYREHSGNFKKWVNTPFTASSVELGPQSPTTSVLHLSLYPAKGKKFLGPLGLEEQLECDGMSGPGHKCQGVSAYSEERDRPYGLVSIDTVTVGDAEGLGAWPFSCEDDGYPALNLDAVRESGPNGEDLLLVTDPAFLSCGCVSGSGLRLGGSPGSLLDRLRLSFAKEGDWTAGPPWRTGSLEGGSESEAGSPPGLDMDTFDSGFAGSDCGSPVETDEGPPRSYLRQWVVRTPPPVDSGAQNS", "length": 555, "header": "tr|A0A8I5ZRF2-1|A0A8I5ZRF2_RAT Isoform 1 of Interleukin 21 receptor OS=Rattus norvegicus OX=10116 GN=Il21r PE=4 SV=1 CANONICAL=A0A8I5ZRF2-1" }, "locus": { "chromosome": "1", "start_pos": 180195353, "end_pos": 180185139, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000096587.1", "url": "https://www.ensembl.org/id/ENSRNOT00000096587.1" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000079649.1", "url": "https://www.ensembl.org/id/ENSRNOP00000079649.1" } ] } }, { "isoform_ac": "A0A8I6AER5-1", "url": "https://www.uniprot.org/uniprot/A0A8I5ZRF2#A0A8I6AER5-1", "sequence": { "sequence": "MPRGLAAPLLLLILHGGWSCLDLTCYTDYLWTITCVLETWSPNPSILSLTWQDEYEELQDKETSCSLHASGHNTTHMWYTCHMRLSQFMSDDVFTVNMMDQSSNSSQECGSFVLAESIKPAPPLNVTVTFSGRYDISWDSIYEEPSNYVLRGKLQYELQYRNLRDPYAVRPVTKLISVDSRNISLLPQEFQKDSSYQLQVRAAPQPGTSFRGTWSEWSDPIIFQTQAEGYARRYGHRCPPPRVSSSPCTGSTAGTSRNGLIPLSRPPAW", "length": 269, "header": "tr|A0A8I6AER5-1|A0A8I5ZRF2_RAT Computationally mapped isoform of Interleukin 21 receptor OS=Rattus norvegicus OX=10116 GN=Il21r PE=4 SV=1 CANONICAL=A0A8I5ZRF2-1" }, "locus": { "chromosome": "1", "start_pos": 180194694, "end_pos": 180185241, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000098669.1", "url": "https://www.ensembl.org/id/ENSRNOT00000098669.1" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000092888.1", "url": "https://www.ensembl.org/id/ENSRNOP00000092888.1" } ] } }, { "isoform_ac": "A0A8I6ASZ0-1", "url": "https://www.uniprot.org/uniprot/A0A8I5ZRF2#A0A8I6ASZ0-1", "sequence": { "sequence": "MTAQARPQPQTTCQSWSCLDLTCYTDYLWTITCVLETWSPNPSILSLTWQDEYEELQDKETSCSLHASGHNTTHMWYTCHMRLSQFMSDDVFTVNMMDQSSNSSQECGSFVLAESIKPAPPLNVTVTFSGRYDISWDSIYEEPSNYVLRGKLQYELQYRNLRDPYAVRPVTKLISVDSRNISLLPQEFQKDSSYQLQVRAAPQPGTSFRGTWSEWSDPIIFQTQAEEPEAGWDPHVLLLLAVLILVLVFMGLKNHLPWRLCKKIWAPVPTPESFFQPLYREHSGNFKKWVNTPFTASSVELGPQSPTTSVLHLSLYPAKGKKFLGPLGLEEQLECDGMSGPGHKCQGVSAYSEERDRPYGLVSIDTVTVGDAEGLGAWPFSCEDDGYPALNLDAVRESGPNGEDLLLVTDPAFLSCGCVSGSGLRLGGSPGSLLDRLRLSFAKEGDWTAGPPWRTGSLEGGSESEAGSPPGLDMDTFDSGFAGSDCGSPVETDEGPPRSYLRQWVVRTPPPVDSGAQNS", "length": 519, "header": "tr|A0A8I6ASZ0-1|A0A8I6ASZ0_RAT Computationally mapped isoform of Interleukin 21 receptor OS=Rattus norvegicus OX=10116 GN=Il21r PE=4 SV=1 CANONICAL=A0A8I5ZRF2-1" }, "locus": { "chromosome": "1", "start_pos": 180195353, "end_pos": 180187703, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000113765.1", "url": "https://www.ensembl.org/id/ENSRNOT00000113765.1" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000097444.1", "url": "https://www.ensembl.org/id/ENSRNOP00000097444.1" } ] } }, { "isoform_ac": "Q5EBB1-1", "url": "https://www.uniprot.org/uniprot/A0A8I5ZRF2#Q5EBB1-1", "sequence": { "sequence": "MPRGLAAPLLLLILHGGWSCLDLTCYTDYLWTITCVLETWSPNPSILSLTWQDEYEELQDKETSCSLHASGHNTTHMWYTCHMRLSQFMSDDVFTVNMMDQSSNSSQECGSFVLAESIKPAPPLNVTVTFSGRYDISWDSIYEEPSNYVLRGKLQYELQYRNLRDPYAVRPVTKLISVDSRNISLLPQEFQKDSSYQLQVRAAPQPGTSFRGTWSEWSDPIIFQTQAEEPEAGWDPHVLLLLAVLILVLVFMGLKNHLPWRLCKKIWAPVPTPESFFQPLYREHSGNFKKWVNTPFTASSVELGPQSPTTSVLHLSLYPAKGKKFLGPLGLEEQLECDGMSGPGHKCQGVSAYSEERDRPYGLVSIDTVTVGDAEGLGAWPFSCEDDGYPALNLDAVRESGPNGEDLLLVTDPAFLSCGCVSGSGLRLGGSPGSLLDRLRLSFAKEGDWTAGPPWRTGSLEGGSESEAGSPPGLDMDTFDSGFAGSDCGSPVETDEGPPRSYLRQWVVRTPPPVDSGAQNS", "length": 521, "header": "tr|Q5EBB1-1|A0A8I5ZRF2_RAT Computationally mapped isoform of Interleukin 21 receptor OS=Rattus norvegicus OX=10116 GN=Il21r PE=4 SV=1 CANONICAL=A0A8I5ZRF2-1" }, "locus": { "chromosome": "1", "start_pos": 180195353, "end_pos": 180185241, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000021690.5", "url": "https://www.ensembl.org/id/ENSRNOT00000021690.5" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000021690.3", "url": "https://www.ensembl.org/id/ENSRNOP00000021690.3" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Cloning of a type I cytokine receptor most related to the IL-2 receptor beta chain.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Ozaki K, Kikly K, Michalovich D, Young PR, Leonard WJ", "evidence": [ { "database": "RefSeq", "id": "NP_001012487", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012487" } ], "reference": [ { "type": "PubMed", "id": "11016959", "url": "https://glygen.org/publication/PubMed/11016959" } ] }, { "title": "Interleukin 21 and its receptor are involved in NK cell expansion and regulation of lymphocyte function.", "journal": "Nature", "date": "2000", "authors": "Parrish-Novak J, Dillon SR, Nelson A, Hammond A, Sprecher C, Gross JA, Johnston J, Madden K, Xu W, West J, Schrader S, Burkhead S, Heipel M, Brandt C, Kuijper JL, Kramer J, Conklin D, Presnell SR, Berry J, Shiota F, Bort S, Hambly K, Mudri S, Clegg C, Moore M, Grant FJ, Lofton-Day C, Gilbert T, Rayond F, Ching A, Yao L, Smith D, Webster P, Whitmore T, Maurer M, Kaushansky K, Holly RD, Foster D", "evidence": [ { "database": "RefSeq", "id": "NP_001012487", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012487" } ], "reference": [ { "type": "PubMed", "id": "11081504", "url": "https://glygen.org/publication/PubMed/11081504" } ] }, { "title": "The gene for interleukin-21 receptor is the partner of BCL6 in t(3;16)(q27;p11), which is recurrently observed in diffuse large B-cell lymphoma.", "journal": "Oncogene", "date": "2002", "authors": "Ueda C, Akasaka T, Kurata M, Maesako Y, Nishikori M, Ichinohasama R, Imada K, Uchiyama T, Ohno H", "evidence": [ { "database": "RefSeq", "id": "NP_001012487", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012487" } ], "reference": [ { "type": "PubMed", "id": "11821949", "url": "https://glygen.org/publication/PubMed/11821949" } ] }, { "title": "Interleukin-21 modulates Th1 and Th17 responses in giant cell arteritis.", "journal": "Arthritis and rheumatism", "date": "2012", "authors": "Terrier B, Geri G, Chaara W, Allenbach Y, Rosenzwajg M, Costedoat-Chalumeau N, Fouret P, Musset L, Benveniste O, Six A, Klatzmann D, Saadoun D, Cacoub P", "evidence": [ { "database": "RefSeq", "id": "NP_001012487", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012487" } ], "reference": [ { "type": "PubMed", "id": "22147555", "url": "https://glygen.org/publication/PubMed/22147555" } ] }, { "title": "IL-21 promotes the pathologic immune response to pneumovirus infection.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2012", "authors": "Spolski R, Wang L, Wan CK, Bonville CA, Domachowske JB, Kim HP, Yu Z, Leonard WJ", "evidence": [ { "database": "RefSeq", "id": "NP_001012487", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012487" } ], "reference": [ { "type": "PubMed", "id": "22238461", "url": "https://glygen.org/publication/PubMed/22238461" } ] }, { "title": "Immune activation and increased IL-21R expression are associated with the loss of memory B cells during HIV-1 infection.", "journal": "Journal of internal medicine", "date": "2012", "authors": "Ruffin N, Lantto R, Pensieroso S, Sammicheli S, Hejdeman B, Rethi B, Chiodi F", "evidence": [ { "database": "RefSeq", "id": "NP_001012487", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012487" } ], "reference": [ { "type": "PubMed", "id": "22530560", "url": "https://glygen.org/publication/PubMed/22530560" } ] } ], "pathway": [ { "id": "rno:308977", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:308977", "resource": "KEGG Pathway" }, { "id": "R-RNO-9020958", "name": "Interleukin-21 signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-9020958", "resource": "Reactome", "description": "Interleukin-21 signaling" } ], "orthologs": [ { "uniprot_canonical_ac": "Q9HBE5-1", "protein_name": "Interleukin-21 receptor", "gene_name": "IL21R", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MPRGWAAPLLLLLLQGGWGCPDLVCYTDYLQTVICILEMWNLHPSTLTLTWQDQYEELKDEATSCSLHRSAHNATHATYTCHMDVFHFMADDIFSVNITDQSGNYSQECGSFLLAESIKPAPPFNVTVTFSGQYNISWRSDYEDPAFYMLKGKLQYELQYRNRGDPWAVSPRRKLISVDSRSVSLLPLEFRKDSSYELQVRAGPMPGSSYQGTWSEWSDPVIFQTQSEELKEGWNPHLLLLLLLVIVFIPAFWSLKTHPLWRLWKKIWAVPSPERFFMPLYKGCSGDFKKWVGAPFTGSSLELGPWSPEVPSTLEVYSCHPPRSPAKRLQLTELQEPAELVESDGVPKPSFWPTAQNSGGSAYSEERDRPYGLVSIDTVTVLDAEGPCTWPCSCEDDGYPALDLDAGLEPSPGLEDPLLDAGTTVLSCGCVSAGSPGLGGPLGSLLDRLKPPLADGEDWAGGLPWGGRSPGGVSESEAGSPLAGLDMDTFDSGFVGSDCSSPVECDFTSPGDEGPPRSYLRQWVVIPPPLSSPGPQAS", "length": 538 }, "evidence": [ { "id": "41491489", "url": "http://www.informatics.jax.org/homology/41491489", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "Q9JHX3-1", "protein_name": "Interleukin-21 receptor", "gene_name": "Il21r", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPRGPVAALLLLILHGAWSCLDLTCYTDYLWTITCVLETRSPNPSILSLTWQDEYEELQDQETFCSLHRSGHNTTHIWYTCHMRLSQFLSDEVFIVNVTDQSGNNSQECGSFVLAESIKPAPPLNVTVAFSGRYDISWDSAYDEPSNYVLRGKLQYELQYRNLRDPYAVRPVTKLISVDSRNVSLLPEEFHKDSSYQLQVRAAPQPGTSFRGTWSEWSDPVIFQTQAGEPEAGWDPHMLLLLAVLIIVLVFMGLKIHLPWRLWKKIWAPVPTPESFFQPLYREHSGNFKKWVNTPFTASSIELVPQSSTTTSALHLSLYPAKEKKFPGLPGLEEQLECDGMSEPGHWCIIPLAAGQAVSAYSEERDRPYGLVSIDTVTVGDAEGLCVWPCSCEDDGYPAMNLDAGRESGPNSEDLLLVTDPAFLSCGCVSGSGLRLGGSPGSLLDRLRLSFAKEGDWTADPTWRTGSPGGGSESEAGSPPGLDMDTFDSGFAGSDCGSPVETDEGPPRSYLRQWVVRTPPPVDSGAQSS", "length": 529 }, "evidence": [ { "id": "41491489", "url": "http://www.informatics.jax.org/homology/41491489", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZRF2", "url": "https://www.uniprot.org/uniprot/A0A8I5ZRF2" } ], "pmid": "" }, { "name": "cytokine receptor activity", "id": "GO:0004896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004896", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZRF2", "url": "https://www.uniprot.org/uniprot/A0A8I5ZRF2" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZRF2", "url": "https://www.uniprot.org/uniprot/A0A8I5ZRF2" } ], "pmid": "21873635" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZRF2", "url": "https://www.uniprot.org/uniprot/A0A8I5ZRF2" } ], "pmid": "21873635" }, { "name": "immunoglobulin mediated immune response", "id": "GO:0016064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016064", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZRF2", "url": "https://www.uniprot.org/uniprot/A0A8I5ZRF2" } ], "pmid": "21873635" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 107, "end_pos": 109, "annotation": "n_glycosylation_sequon" }, { "start_pos": 138, "end_pos": 140, "annotation": "n_glycosylation_sequon" }, { "start_pos": 159, "end_pos": 161, "annotation": "n_glycosylation_sequon" }, { "start_pos": 216, "end_pos": 218, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ] }