{ "uniprot_canonical_ac": "P16382-1", "uniprot_ac": "P16382", "uniprot_id": "IL4RA_MOUSE", "mass": { "chemical_mass": 87627.0, "monoisotopic_mass": 87627.0 }, "refseq": { "ac": "NP_001008700", "name": "interleukin-4 receptor subunit alpha isoform 1 precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008700" }, "gene_names": [ { "name": "Il4ra", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P16382", "id": "P16382" }, { "name": "Il4r", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P16382", "id": "P16382" }, { "name": "CD124; Il4r", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008700", "id": "NP_001008700" }, { "name": "Il4ra", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008700", "id": "NP_001008700" }, { "name": "Il4ra", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P16382", "id": "P16382" } ], "protein_names": [ { "name": "Interleukin-4 receptor subunit alpha", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P16382" }, { "name": "IL-4 receptor subunit alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P16382" }, { "name": "IL-4-binding protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P16382" }, { "name": "IL-4R subunit alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P16382" }, { "name": "IL-4R-alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P16382" }, { "name": "IL-4RA", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P16382" }, { "name": "IL4-BP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P16382" }, { "name": "interleukin-4 receptor subunit alpha isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008700", "id": "NP_001008700" }, { "name": "interleukin-4 receptor subunit alpha; IL-4R-alpha; IL-4R subunit alpha; IL-4 receptor subunit alpha; IL-4 receptor alpha chain", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008700", "id": "NP_001008700" } ], "function": [ { "annotation": "IL-4Ralpha signalling in B cells and T cells play differential roles in acute and chronic atopic dermatitis. Erratum:[Sci Rep. 2023 Jun 14;13(1):9651. PMID: 37316698] Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001008700", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008700" }, { "database": "PubMed", "id": "36599893", "url": "https://glygen.org/publication/PubMed/36599893" } ] }, { "annotation": "Receptor for both interleukin 4 and interleukin 13. Couples to the JAK1/2/3-STAT6 pathway. The IL4 response is involved in promoting Th2 differentiation. The IL4/IL13 responses are involved in regulating IgE production and, chemokine and mucus production at sites of allergic inflammation. In certain cell types, can signal through activation of insulin receptor substrates, IRS1/IRS2.", "evidence": [ { "database": "UniProtKB", "id": "P16382", "url": "https://www.uniprot.org/uniprot/P16382#function" } ] }, { "annotation": "The IL-4Ralpha Q576R polymorphism is associated with increased severity of atopic dermatitis and exaggerates allergic skin inflammation in mice.", "evidence": [ { "database": "RefSeq", "id": "NP_001008700", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008700" }, { "database": "PubMed", "id": "36690254", "url": "https://glygen.org/publication/PubMed/36690254" } ] } ], "disease": [ { "disease_id": "DOID:0050784", "recommended_name": { "id": "DOID:0050784", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050784", "name": "primary progressive multiple sclerosis", "description": "A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous." }, "synonyms": [ { "id": "DOID:0050784", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050784", "name": "PPMS", "description": "" }, { "id": "DOID:0050784", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050784", "name": "Primary-progressive MS", "description": "" } ], "evidence": [ { "id": "0050784", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050784" } ] }, { "disease_id": "DOID:11204", "recommended_name": { "id": "DOID:11204", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11204", "name": "allergic conjunctivitis", "description": "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant." }, "synonyms": [], "evidence": [ { "id": "11204", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11204" } ] }, { "disease_id": "DOID:11963", "recommended_name": { "id": "DOID:11963", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11963", "name": "esophagitis", "description": "" }, "synonyms": [ { "id": "DOID:11963", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11963", "name": "acute esophagitis", "description": "" } ], "evidence": [ { "id": "11963", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11963" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "evidence": [ { "id": "1793", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "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": "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: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": "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: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:2957", "recommended_name": { "id": "DOID:2957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis." }, "synonyms": [], "evidence": [ { "id": "2957", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ] }, { "disease_id": "DOID:3082", "recommended_name": { "id": "DOID:3082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough." }, "synonyms": [ { "id": "DOID:3082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3082", "name": "ILD", "description": "" } ], "evidence": [ { "id": "3082", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ] }, { "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 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", "description": "" }, { "id": "MONDO:0011292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011292", "name": "eczema, atopic", "description": "" } ], "evidence": [ { "id": "3310", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ] }, { "disease_id": "DOID:3587", "recommended_name": { "id": "DOID:3587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct." }, "synonyms": [ { "id": "DOID:3587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3587", "name": "malignant neoplasm of duct of Wirsung", "description": "" }, { "id": "DOID:3587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3587", "name": "pancreatic duct cancer", "description": "" } ], "evidence": [ { "id": "3587", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ] }, { "disease_id": "DOID:4450", "recommended_name": { "id": "DOID:4450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney." }, "synonyms": [ { "id": "DOID:4450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4450", "name": "RCC", "description": "" }, { "id": "DOID:4450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4450", "name": "adenocarcinoma of kidney", "description": "" }, { "id": "DOID:4450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4450", "name": "hypernephroma", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "renal cell carcinoma, Xp11-associated", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "renal cell carcinoma, Xp11-associated", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "renal cell carcinoma, papillary, 1", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "RCCX1", "description": "" } ], "evidence": [ { "id": "4450", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ] }, { "disease_id": "DOID:4483", "recommended_name": { "id": "DOID:4483", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip." }, "synonyms": [], "evidence": [ { "id": "4483", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ] }, { "disease_id": "DOID:4947", "recommended_name": { "id": "DOID:4947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells." }, "synonyms": [ { "id": "DOID:4947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4947", "name": "adult primary Cholangiocarcinoma", "description": "" }, { "id": "DOID:4947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4947", "name": "adult primary cholangiocellular carcinoma", "description": "" }, { "id": "DOID:4947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4947", "name": "cholangiosarcoma", "description": "" } ], "evidence": [ { "id": "4947", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ] }, { "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: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:6543", "recommended_name": { "id": "DOID:6543", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6543", "name": "acne", "description": "A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring." }, "synonyms": [ { "id": "DOID:6543", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6543", "name": "Acne varioliformis", "description": "" }, { "id": "DOID:6543", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6543", "name": "acne vulgaris", "description": "" }, { "id": "DOID:6543", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6543", "name": "frontalis acne", "description": "" }, { "id": "MONDO:0100486", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100486", "name": "adult acne", "description": "Acne that occurs in an adult." }, { "id": "MONDO:0100486", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100486", "name": "acne, adult", "description": "" } ], "evidence": [ { "id": "6543", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:6543" } ] }, { "disease_id": "DOID:7148", "recommended_name": { "id": "DOID:7148", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint." }, "synonyms": [ { "id": "DOID:7148", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7148", "name": "Arthritis or polyarthritis, rheumatic", "description": "" }, { "id": "DOID:7148", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7148", "name": "atrophic Arthritis", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "rheumatoid arthritis", "description": "A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor." }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "atrophic arthritis", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "RA", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "arthritis or polyarthritis, rheumatic", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "arthritis, rheumatoid", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "autoimmune arthritis", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "rheumatoid arthritis", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "rheumatoid arthritis, progression of", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "rheumatoid arthritis, susceptibility to", "description": "" }, { "id": "MIM:180300", "resource": "MIM", "url": "https://www.omim.org/entry/180300", "name": "Rheumatoid arthritis", "description": "Rheumatoid arthritis" } ], "evidence": [ { "id": "7148", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ] }, { "disease_id": "DOID:8398", "recommended_name": { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint." }, "synonyms": [ { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "Osteoarthrosis and allied disorder", "description": "" }, { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "degenerative arthritis", "description": "" }, { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "degenerative joint disease", "description": "" }, { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "hypertrophic arthritis", "description": "" }, { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "osteoarthrosis", "description": "" } ], "evidence": [ { "id": "8398", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ] }, { "disease_id": "DOID:9538", "recommended_name": { "id": "DOID:9538", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow." }, "synonyms": [ { "id": "DOID:9538", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9538", "name": "myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloma", "description": "A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Kahler disease", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Kahler's disease", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "medullary plasmacytoma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma, resistance to, Somatic mutation", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma, susceptibility to, Somatic mutation", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma/plasma cell myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloid neoplasm of plasma cell", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma, multiple", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma, plasma cell, malignant", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myelomatosis", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloid neoplasm", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Al amyloidosis", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "amyloidosis, systemic", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma - multiple", "description": "" }, { "id": "MIM:254500", "resource": "MIM", "url": "https://www.omim.org/entry/254500", "name": "Multiple myeloma", "description": "Multiple myeloma" } ], "evidence": [ { "id": "9538", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ] }, { "disease_id": "DOID:9733", "recommended_name": { "id": "DOID:9733", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9733", "name": "renal tuberculosis", "description": "An urogenital tuberculosis that results_in formation of granulomas located_in kidney." }, "synonyms": [ { "id": "DOID:9733", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9733", "name": "Tuberculosis of kidney", "description": "" } ], "evidence": [ { "id": "9733", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9733" } ] } ], "snv": [ { "evidence": [ { "id": "rs3388919550", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388919550" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 129, "end_pos": 129, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->ILT).", "chr_id": "7", "chr_pos": "125169135", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N129", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs227474143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs227474143" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 210, "end_pos": 210, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TGT->NGT).", "chr_id": "7", "chr_pos": "125170718", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T210", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs244442548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs244442548" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 74, "end_pos": 74, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->NLI).", "chr_id": "7", "chr_pos": "125168203", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T74", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P16382", "url": "https://www.uniprot.org/uniprot/P16382" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Il4r", "url": "https://www.uniprot.org/uniprot/P16382", "locus": {} } ], "crossref": [ { "id": "ENSMUSG00000030748", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000030748", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd00063", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00063", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "16190", "url": "https://www.ncbi.nlm.nih.gov/gene/16190", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR003531", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003531", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003961", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003961", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR015319", "url": "https://www.ebi.ac.uk/interpro/entry/IPR015319", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036116", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036116", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:16190", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:16190", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "105367", "url": "http://www.informatics.jax.org/marker/MGI:105367", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "AVCVCHM", "url": "https://omabrowser.org/oma/group/AVCVCHM/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5322153at2759", "url": "http://www.orthodb.org/?query=5322153at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR23037", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23037", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR23037:SF32", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23037:SF32", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF09238", "url": "http://pfam.xfam.org/family/PF09238", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P16382", "url": "http://purl.obolibrary.org/obo/PR_P16382", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-MMU-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-6785807", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001008700", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008700", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0U1RNW1", "url": "https://www.uniprot.org/uniprot/A0A0U1RNW1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0U1RNW1-1", "url": "https://www.uniprot.org/uniprot/A0A0U1RNW1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0U1RPZ6", "url": "https://www.uniprot.org/uniprot/A0A0U1RPZ6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0U1RPZ6-1", "url": "https://www.uniprot.org/uniprot/A0A0U1RPZ6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P16382", "url": "https://www.uniprot.org/uniprot/P16382", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P16382-1", "url": "https://www.uniprot.org/uniprot/P16382-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P16382-2", "url": "https://www.uniprot.org/uniprot/P16382-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P16382-3", "url": "https://www.uniprot.org/uniprot/P16382-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGRLCTKFLTSVGCLILLLVTGSGSIKVLGEPTCFSDYIRTSTCEWFLDSAVDCSSQLCLHYRLMFFEFSENLTCIPRNSASTVCVCHMEMNRPVQSDRYQMELWAEHRQLWQGSFSPSGNVKPLAPDNLTLHTNVSDEWLLTWNNLYPSNNLLYKDLISMVNISREDNPAEFIVYNVTYKEPRLSFPINILMSGVYYTARVRVRSQILTGTWSEWSPSITWYNHFQLPLIQRLPLGVTISCLCIPLFCLFCYFSITKIKKIWWDQIPTPARSPLVAIIIQDAQVPLWDKQTRSQESTKYPHWKTCLDKLLPCLLKHRVKKKTDFPKAAPTKSLQSPGKAGWCPMEVSRTVLWPENVSVSVVRCMELFEAPVQNVEEEEDEIVKEDLSMSPENSGGCGFQESQADIMARLTENLFSDLLEAENGGLGQSALAESCSPLPSGSGQASVSWACLPMGPSEEATCQVTEQPSHPGPLSGSPAQSAPTLACTQVPLVLADNPAYRSFSDCCSPAPNPGELAPEQQQADHLEEEEPPSPADPHSSGPPMQPVESWEQILHMSVLQHGAAAGSTPAPAGGYQEFVQAVKQGAAQDPGVPGVRPSGDPGYKAFSSLLSSNGIRGDTAAAGTDDGHGGYKPFQNPVPNQSPSSVPLFTFGLDTELSPSPLNSDPPKSPPECLGLELGLKGGDWVKAPPPADQVPKPFGDDLGFGIVYSSLTCHLCGHLKQHHSQEEGGQSPIVASPGCGCCYDDRSPSLGSLSGALESCPEGIPPEANLMSAPKTPSNLSGEGKGPGHSPVPSQTTEVPVGALGIAVS", "length": 810, "header": "sp|P16382-1|IL4RA_MOUSE Isoform 1 of Interleukin-4 receptor subunit alpha OS=Mus musculus OX=10090 GN=Il4r PE=1 SV=1 CANONICAL=P16382-1" }, "isoforms": [ { "isoform_ac": "A0A0U1RNW1-1", "url": "", "sequence": { "sequence": "MGRLCTKFLTSVGCLILLLVTGSGSIKVLGEPTCFSDYIRTSTCEWFLDSAVDCSSQLCLHYRLMFFEFSENLTCIPRNSASTVCVCHMEMNRPVQSDRYQMELWAEHRQLWQGSFSPSGNVKPLAPDNLTLHTNVSDEW", "length": 140, "header": "tr|A0A0U1RNW1-1|A0A0U1RNW1_MOUSE Computationally mapped isoform of Interleukin 4 receptor, alpha OS=Mus musculus OX=10090 GN=Il4ra PE=1 SV=1 CANONICAL=P16382-1" }, "locus": { "chromosome": "7", "start_pos": 125169169, "end_pos": 125164827, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000205985.2", "url": "https://www.ensembl.org/id/ENSMUST00000205985.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000145725.2", "url": "https://www.ensembl.org/id/ENSMUSP00000145725.2" } ] } }, { "isoform_ac": "A0A0U1RPZ6-1", "url": "", "sequence": { "sequence": "MGRLCTKFLTSVGCLILLLVTGSGSIKVLGEPTCFSDYIRTS", "length": 42, "header": "tr|A0A0U1RPZ6-1|A0A0U1RPZ6_MOUSE Computationally mapped isoform of Interleukin 4 receptor, alpha OS=Mus musculus OX=10090 GN=Il4ra PE=1 SV=1 CANONICAL=P16382-1" }, "locus": { "chromosome": "7", "start_pos": 125166383, "end_pos": 125164827, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000206217.2", "url": "https://www.ensembl.org/id/ENSMUST00000206217.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000146185.2", "url": "https://www.ensembl.org/id/ENSMUSP00000146185.2" } ] } }, { "isoform_ac": "P16382-1", "url": "", "sequence": { "sequence": "MGRLCTKFLTSVGCLILLLVTGSGSIKVLGEPTCFSDYIRTSTCEWFLDSAVDCSSQLCLHYRLMFFEFSENLTCIPRNSASTVCVCHMEMNRPVQSDRYQMELWAEHRQLWQGSFSPSGNVKPLAPDNLTLHTNVSDEWLLTWNNLYPSNNLLYKDLISMVNISREDNPAEFIVYNVTYKEPRLSFPINILMSGVYYTARVRVRSQILTGTWSEWSPSITWYNHFQLPLIQRLPLGVTISCLCIPLFCLFCYFSITKIKKIWWDQIPTPARSPLVAIIIQDAQVPLWDKQTRSQESTKYPHWKTCLDKLLPCLLKHRVKKKTDFPKAAPTKSLQSPGKAGWCPMEVSRTVLWPENVSVSVVRCMELFEAPVQNVEEEEDEIVKEDLSMSPENSGGCGFQESQADIMARLTENLFSDLLEAENGGLGQSALAESCSPLPSGSGQASVSWACLPMGPSEEATCQVTEQPSHPGPLSGSPAQSAPTLACTQVPLVLADNPAYRSFSDCCSPAPNPGELAPEQQQADHLEEEEPPSPADPHSSGPPMQPVESWEQILHMSVLQHGAAAGSTPAPAGGYQEFVQAVKQGAAQDPGVPGVRPSGDPGYKAFSSLLSSNGIRGDTAAAGTDDGHGGYKPFQNPVPNQSPSSVPLFTFGLDTELSPSPLNSDPPKSPPECLGLELGLKGGDWVKAPPPADQVPKPFGDDLGFGIVYSSLTCHLCGHLKQHHSQEEGGQSPIVASPGCGCCYDDRSPSLGSLSGALESCPEGIPPEANLMSAPKTPSNLSGEGKGPGHSPVPSQTTEVPVGALGIAVS", "length": 810, "header": "sp|P16382-1|IL4RA_MOUSE Isoform 1 of Interleukin-4 receptor subunit alpha OS=Mus musculus OX=10090 GN=Il4r PE=1 SV=1 CANONICAL=P16382-1" }, "locus": { "chromosome": "7", "start_pos": 125176223, "end_pos": 125164827, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000033004", "url": "https://www.ensembl.org/id/ENSMUST00000033004" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000033004", "url": "https://www.ensembl.org/id/ENSMUSP00000033004" } ] } }, { "isoform_ac": "P16382-2", "url": "", "sequence": { "sequence": "MGRLCTKFLTSVGCLILLLVTGSGSIKVLGEPTCFSDYIRTSTCEWFLDSAVDCSSQLCLHYRLMFFEFSENLTCIPRNSASTVCVCHMEMNRPVQSDRYQMELWAEHRQLWQGSFSPSGNVKPLAPDNLTLHTNVSDEWLLTWNNLYPSNNLLYKDLISMVNISREDNPAEFIVYNVTYKEPRLSFPINILMSGVYYTARVRVRSQILTGTWSEWSPSITWYNPSNENL", "length": 230, "header": "sp|P16382-2|IL4RA_MOUSE Isoform 2 of Interleukin-4 receptor subunit alpha OS=Mus musculus OX=10090 GN=Il4r PE=1 SV=1 CANONICAL=P16382-1" }, "locus": { "chromosome": "7", "start_pos": 125171122, "end_pos": 125164827, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000206846", "url": "https://www.ensembl.org/id/ENSMUST00000206846" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000145824", "url": "https://www.ensembl.org/id/ENSMUSP00000145824" } ] } }, { "isoform_ac": "P16382-3", "url": "", "sequence": { "sequence": "MGRLCTKFLTSVGCLILLLVTGSGSIKVLGEPTCFSDYIRTSTCEWFLDSAVDCSSQLCLHYRLMFFEFSENLTCIPRNSASTVCVCHMEMNRPVQSDRYQMELWAEHRQLWQGSFSPSGNVKPLAPDNLTLHTNVSDEWLLTWNNLYPSNNLLYKDLISMVNISREDNPAEFIVYNVTYKEPRLSFPINILMSGVYYTARVRVRSQILTGTWSEWSPSITWYNHFQLPLIQRLPLGVTISCLCIPLFCLFCYFSIT", "length": 257, "header": "sp|P16382-3|IL4RA_MOUSE Isoform 3 of Interleukin-4 receptor subunit alpha OS=Mus musculus OX=10090 GN=Il4r PE=1 SV=1 CANONICAL=P16382-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 129, "start_aa": "Asn", "end_pos": 129, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn129", "evidence": [ { "id": "P16382", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16382#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 135, "start_aa": "Asn", "end_pos": 135, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn135", "evidence": [ { "id": "P16382", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16382#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 163, "start_aa": "Asn", "end_pos": 163, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn163", "evidence": [ { "id": "P16382", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16382#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 72, "start_aa": "Asn", "end_pos": 72, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn72", "evidence": [ { "id": "P16382", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16382#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 165, "end_pos": 165, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P16382", "url": "https://www.uniprot.org/uniprot/P16382" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "phospho.ELM", "id": "P16382", "url": "http://phospho.elm.eu.org/byAccession/P16382.html" }, { "database": "iPTMnet", "id": "P16382", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P16382" } ], "site_lbl": "Ser165" }, { "start_pos": 500, "end_pos": 500, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P16382", "url": "https://www.uniprot.org/uniprot/P16382" }, { "database": "phospho.ELM", "id": "P16382", "url": "http://phospho.elm.eu.org/byAccession/P16382.html" }, { "database": "iPTMnet", "id": "P16382", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P16382" }, { "database": "PubMed", "id": "14557412", "url": "https://glygen.org/publication/PubMed/14557412" } ], "site_lbl": "Tyr500" }, { "start_pos": 575, "end_pos": 575, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P16382", "url": "https://www.uniprot.org/uniprot/P16382" } ], "site_lbl": "Tyr575" }, { "start_pos": 603, "end_pos": 603, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P16382", "url": "https://www.uniprot.org/uniprot/P16382" } ], "site_lbl": "Tyr603" }, { "start_pos": 631, "end_pos": 631, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P16382", "url": "https://www.uniprot.org/uniprot/P16382" } ], "site_lbl": "Tyr631" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Expression of the suppressor of cytokine signaling-5 (SOCS5) negatively regulates IL-4-dependent STAT6 activation and Th2 differentiation.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2002", "authors": "Seki Y, Hayashi K, Matsumoto A, Seki N, Tsukada J, Ransom J, Naka T, Kishimoto T, Yoshimura A, Kubo M", "evidence": [ { "database": "UniProtKB", "id": "P16382", "url": "https://www.uniprot.org/uniprot/P16382" } ], "reference": [ { "type": "PubMed", "id": "12242343", "url": "https://glygen.org/publication/PubMed/12242343" } ] }, { "title": "Targeted inactivation of the IL-4 receptor alpha chain I4R motif promotes allergic airway inflammation.", "journal": "The Journal of experimental medicine", "date": "2003", "authors": "Blaeser F, Bryce PJ, Ho N, Raman V, Dedeoglu F, Donaldson DD, Geha RS, Oettgen HC, Chatila TA", "evidence": [ { "database": "iPTMnet", "id": "P16382", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P16382" } ], "reference": [ { "type": "PubMed", "id": "14557412", "url": "https://glygen.org/publication/PubMed/14557412" } ] }, { "title": "The murine interleukin-4 receptor gene: genomic structure, expression and potential for alternative splicing.", "journal": "Growth Factors", "date": "1992", "authors": "Wrighton N, Campbell LA, Harada N, Miyajima A, Lee F", "evidence": [ { "database": "UniProtKB", "id": "P16382", "url": "https://www.uniprot.org/uniprot/P16382" } ], "reference": [ { "type": "PubMed", "id": "1534014", "url": "https://glygen.org/publication/PubMed/1534014" } ] }, { "title": "The phagosomal proteome in interferon-gamma-activated macrophages.", "journal": "Immunity", "date": "2009", "authors": "Trost M, English L, Lemieux S, Courcelles M, Desjardins M, Thibault P", "evidence": [ { "database": "UniProtKB", "id": "P16382", "url": "https://www.uniprot.org/uniprot/P16382" }, { "database": "iPTMnet", "id": "P16382", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P16382" } ], "reference": [ { "type": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" } ] }, { "title": "Expression cloning of a cDNA encoding the murine interleukin 4 receptor based on ligand binding.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1990", "authors": "Itoh N., Harada N., Miyajima A., Schreurs J., Gorman D.M., Howard M., Barrett R.L., Castle B.E.", "evidence": [ { "database": "UniProtKB", "id": "P16382", "url": "https://www.uniprot.org/uniprot/P16382" } ], "reference": [ { "type": "PubMed", "id": "2405398", "url": "https://glygen.org/publication/PubMed/2405398" } ] }, { "title": "CD300f associates with IL-4 receptor alpha and amplifies IL-4-induced immune cell responses.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2015", "authors": "Tian L., Coligan J.E., Sayos J., Ejarque-Ortiz A., Munitz A., Hershko A.Y., Itan M., Karo-Atar D., Morgenstern-Ben-Baruch N., Moshkovits I., Reichman H., Rozenberg P., Shik D.", "evidence": [ { "database": "UniProtKB", "id": "P16382", "url": "https://www.uniprot.org/uniprot/P16382" } ], "reference": [ { "type": "PubMed", "id": "26124135", "url": "https://glygen.org/publication/PubMed/26124135" } ] }, { "title": "The murine interleukin-4 receptor: molecular cloning and characterization of secreted and membrane bound forms.", "journal": "Cell", "date": "1989", "authors": "Jackson J., Smith C., March C.J., Sims J.E., Mosley B., Beckmann M.P., Cosman D., Anderson D., Park L.S., Alpert A., Friend D., Gimpel S.D., VandenBos T., Idzerda R.L., Widmer M.B., Wignall J.M., Urdal D., Gallis B.", "evidence": [ { "database": "UniProtKB", "id": "P16382", "url": "https://www.uniprot.org/uniprot/P16382" } ], "reference": [ { "type": "PubMed", "id": "2805066", "url": "https://glygen.org/publication/PubMed/2805066" } ] }, { "title": "IL-4R\u03b1 signalling in B cells and T cells play differential roles in acute and chronic atopic dermatitis.", "journal": "Scientific reports", "date": "2023-01-04", "authors": "Scibiorek Martyna, Mthembu Nontobeko, Mangali Sandisiwe, Ngomti Amkele, Ikwegbue Paul, Brombacher Frank, Hadebe Sabelo", "evidence": [ { "database": "RefSeq", "id": "NP_001008700", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008700" } ], "reference": [ { "type": "PubMed", "id": "36599893", "url": "https://glygen.org/publication/PubMed/36599893" } ] }, { "title": "The IL-4R\u03b1 Q576R polymorphism is associated with increased severity of atopic dermatitis and exaggerates allergic skin inflammation in mice.", "journal": "The Journal of allergy and clinical immunology", "date": "2023-01-21", "authors": "Yang Barbara, Wilkie Hazel, Das Mrinmoy, Timilshina Maheshwor, Bainter Wayne, Woods Brian, Daya Michelle, Boorgula Meher P, Mathias Rasika A, Lai Peggy, Petty Carter R, Weller Edie, Harb Hani, Chatila Talal A, Leung Donald Y M, Beck Lisa A, Simpson Eric L, Hata Tissa R, Barnes Kathleen C, Phipatanakul Wanda, Leyva-Castillo Juan-Manuel, Geha Raif S", "evidence": [ { "database": "RefSeq", "id": "NP_001008700", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008700" } ], "reference": [ { "type": "PubMed", "id": "36690254", "url": "https://glygen.org/publication/PubMed/36690254" } ] }, { "title": "Interleukin-4 (IL-4) induces protein tyrosine phosphorylation of the IL-4 receptor and association of phosphatidylinositol 3-kinase to the IL-4 receptor in a mouse T cell line, HT2.", "journal": "J. Biol. Chem.", "date": "1993", "authors": "Harada N., Izuhara K.", "evidence": [ { "database": "UniProtKB", "id": "P16382", "url": "https://www.uniprot.org/uniprot/P16382" } ], "reference": [ { "type": "PubMed", "id": "8390454", "url": "https://glygen.org/publication/PubMed/8390454" } ] }, { "title": "Two distinct stimulus-dependent pathways lead to production of soluble murine interleukin-4 receptor.", "journal": "J. Immunol.", "date": "1996", "authors": "Blum H, Wolf M, Enssle K, Rollinghoff M, Gessner A", "evidence": [ { "database": "UniProtKB", "id": "P16382", "url": "https://www.uniprot.org/uniprot/P16382" } ], "reference": [ { "type": "PubMed", "id": "8757301", "url": "https://glygen.org/publication/PubMed/8757301" } ] }, { "title": "Molecular characterization and functional analysis of murine interleukin 4 receptor allotypes.", "journal": "J. Exp. Med.", "date": "1997", "authors": "Schulte T, Kurrle R, Rollinghoff M, Gessner A", "evidence": [ { "database": "UniProtKB", "id": "P16382", "url": "https://www.uniprot.org/uniprot/P16382" } ], "reference": [ { "type": "PubMed", "id": "9348299", "url": "https://glygen.org/publication/PubMed/9348299" } ] } ], "pathway": [ { "id": "mmu:16190", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:16190", "resource": "KEGG Pathway" }, { "id": "R-MMU-6785807", "name": "Interleukin-4 and Interleukin-13 signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-6785807", "resource": "Reactome", "description": "Interleukin-4 and Interleukin-13 signaling" } ], "orthologs": [ { "uniprot_canonical_ac": "P24394-1", "protein_name": "Interleukin-4 receptor subunit alpha", "gene_name": "IL4R", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MGWLCSGLLFPVSCLVLLQVASSGNMKVLQEPTCVSDYMSISTCEWKMNGPTNCSTELRLLYQLVFLLSEAHTCIPENNGGAGCVCHLLMDDVVSADNYTLDLWAGQQLLWKGSFKPSEHVKPRAPGNLTVHTNVSDTLLLTWSNPYPPDNYLYNHLTYAVNIWSENDPADFRIYNVTYLEPSLRIAASTLKSGISYRARVRAWAQCYNTTWSEWSPSTKWHNSYREPFEQHLLLGVSVSCIVILAVCLLCYVSITKIKKEWWDQIPNPARSRLVAIIIQDAQGSQWEKRSRGQEPAKCPHWKNCLTKLLPCFLEHNMKRDEDPHKAAKEMPFQGSGKSAWCPVEISKTVLWPESISVVRCVELFEAPVECEEEEEVEEEKGSFCASPESSRDDFQEGREGIVARLTESLFLDLLGEENGGFCQQDMGESCLLPPSGSTSAHMPWDEFPSAGPKEAPPWGKEQPLHLEPSPPASPTQSPDNLTCTETPLVIAGNPAYRSFSNSLSQSPCPRELGPDPLLARHLEEVEPEMPCVPQLSEPTTVPQPEPETWEQILRRNVLQHGAAAAPVSAPTSGYQEFVHAVEQGGTQASAVVGLGPPGEAGYKAFSSLLASSAVSPEKCGFGASSGEEGYKPFQDLIPGCPGDPAPVPVPLFTFGLDREPPRSPQSSHLPSSSPEHLGLEPGEKVEDMPKPPLPQEQATDPLVDSLGSGIVYSALTCHLCGHLKQCHGQEDGGQTPVMASPCCGCCCGDRSSPPTTPLRAPDPSPGGVPLEASLCPASLAPSGISEKSKSSSSFHPAPGNAQSSSQTPKIVNFVSVGPTYMRVS", "length": 825 }, "evidence": [ { "id": "45229330", "url": "http://www.informatics.jax.org/homology/45229330", "database": "MGI" }, { "id": "P16382", "url": "https://omabrowser.org/oma/group/P16382/", "database": "OMA" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "Q63257-1", "protein_name": "Interleukin-4 receptor subunit alpha", "gene_name": "Il4r", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGWLCTKFLSSVSCLILLWVTGSGGIKVLGDPTCFSDYIRTSTCEWQLDSTVDCSSQLLLDYRLLFEFSENLTCTPKNSADTVCVCQMAIEEPIQADTYWLELWSERGQLWQGSFKPSDNVKPPAPDNLTLHTNVSNALLLMWSNPYPSNNFLHKGLICMVNISREDNPAEFKVYNVTYTEPKLSFPVNTLTSGVRYRARVRVLSQSFPGIWSEWSPSITWYNHFQLPLLQRLPLGVSISCICILLFCLTCYFSIIKIKKIWWDQIPTPARSPLAAIIIQDTKVSLWEKQTRSQESTKSRHWKTCLTKLLPCLLEHRVKKERESPKAAKTKPLQSPEKAGWYPAEVSRTVLWPENVHVSVVRCMELFEAPVQNVEEEEDEMVKGDLSMSPENSGGGFQESQADIMARLTENLFSDLLGAENGGVGQSSMAESSSLLPSESGQASTSWACFPTGPSETTCQVTGQQPPHPDPERATGTACTQVPLVISDNPAYRSFSDFSSPAPNPGELASEQKQAGHLEEGDLLSPVDPHSSGPPMQQAESWEQILHMSVLQHGTAGSTPAPTSGYQEFVQAVKQGASQDAGVPGVGPSGDTGYKAFSSLLSSSGVCTDTAAAGTDSGCGGYKPFQNPVPNQSPNSMPLFTFGLDMELPPSPLNSAPPNSTPECLGLELGLKGGTWLKAPPPSEQVPKPFGDDLGLGIVYSSLTCHLCGHLKQHHSQEEDGQIHVVASPGCGCCYDEKSPSLGNLSGTLESCPGEMSQEANLTLAPRTPSNLSGVGKGPGHSPVPSQTTEVPVGTLGVTVS", "length": 801 }, "evidence": [ { "id": "45229330", "url": "http://www.informatics.jax.org/homology/45229330", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { 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"GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "P16382", "url": "https://www.uniprot.org/uniprot/P16382" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P16382", "url": "https://www.uniprot.org/uniprot/P16382" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "P16382", "url": "https://www.uniprot.org/uniprot/P16382" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 16, "go_terms": [ { "name": "production of molecular mediator involved in inflammatory response", "id": "GO:0002532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002532", "evidence": [ { "database": "UniProtKB", "id": "P16382", "url": "https://www.uniprot.org/uniprot/P16382" } 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