{ "uniprot_canonical_ac": "P08514-1", "uniprot_ac": "P08514", "uniprot_id": "ITA2B_HUMAN", "mass": { "chemical_mass": 113377.0, "monoisotopic_mass": 113377.0 }, "refseq": { "ac": "NP_000410", "name": "integrin alpha-IIb preproprotein", "summary": "This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000410" }, "gene_names": [ { "name": "ITGA2B", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P08514", "id": "P08514" }, { "name": "BDPLT16; BDPLT2; CD41; CD41B; GP2B; GPIIb; GT; GT1; GTA; HPA3; PPP1R93", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000410", "id": "NP_000410" }, { "name": "GP2B", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08514", "id": "P08514" }, { "name": "ITGA2B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000410", "id": "NP_000410" }, { "name": "ITGAB", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08514", "id": "P08514" } ], "protein_names": [ { "name": "Integrin alpha-IIb", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P08514" }, { "name": "GPIIb", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08514" }, { "name": "GPalpha IIb", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08514" }, { "name": "Platelet membrane glycoprotein IIb", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08514" }, { "name": "integrin alpha-IIb preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000410", "id": "NP_000410" }, { "name": "platelet fibrinogen receptor, alpha subunit; platelet-specific antigen BAK; GPalpha IIb; platelet membrane glycoprotein IIb; protein phosphatase 1, regulatory subunit 93; alphaIIb protein; integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000410", "id": "NP_000410" } ], "function": [ { "annotation": "An alternate covalent form of platelet alphaIIbbeta3 integrin that resides in focal adhesions and has altered function.", "evidence": [ { "database": "RefSeq", "id": "NP_000410", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000410" }, { "database": "PubMed", "id": "34375384", "url": "https://glygen.org/publication/PubMed/34375384" } ] }, { "annotation": "Complement C3b contributes to Escherichia coli-induced platelet aggregation in human whole blood. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000410", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000410" }, { "database": "PubMed", "id": "36591264", "url": "https://glygen.org/publication/PubMed/36591264" } ] }, { "annotation": "Ectopic Expression of FVIII in HPCs and MSCs Derived from hiPSCs with Site-Specific Integration of ITGA2B Promoter-Driven BDDF8 Gene in Hemophilia A. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000410", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000410" }, { "database": "PubMed", "id": "35054807", "url": "https://glygen.org/publication/PubMed/35054807" } ] }, { "annotation": "Integrin alpha-IIb/beta-3 is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. It recognizes the sequence R-G-D in a wide array of ligands. It recognizes the sequence H-H-L-G-G-G-A-K-Q-A-G-D-V in fibrinogen gamma chain. Following activation integrin alpha-IIb/beta-3 brings about platelet/platelet interaction through binding of soluble fibrinogen. This step leads to rapid platelet aggregation which physically plugs ruptured endothelial cell surface.", "evidence": [ { "database": "UniProtKB", "id": "P08514", "url": "https://www.uniprot.org/uniprot/P08514#function" } ] }, { "annotation": "Molecular dynamics simulations corroborate recombinant expression studies carried out on three alphaIIb beta-propeller mutations reported in Indian Glanzmann thrombasthenia patients.", "evidence": [ { "database": "RefSeq", "id": "NP_000410", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000410" }, { "database": "PubMed", "id": "37210732", "url": "https://glygen.org/publication/PubMed/37210732" } ] }, { "annotation": "Studies indicate that Glanzmann thrombasthenia (GT) is caused by quantitative or qualitative deficiencies of alphaIIbbeta3, an integrin coded by the ITGA2B and ITGB3 genes. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000410", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000410" }, { "database": "PubMed", "id": "23929305", "url": "https://glygen.org/publication/PubMed/23929305" } ] }, { "annotation": "This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_000410", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000410" } ] } ], "disease": [ { "disease_id": "DOID:0060691", "recommended_name": { "id": "DOID:0060691", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060691", "name": "platelet-type bleeding disorder 16", "description": "A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32." }, "synonyms": [ { "id": "DOID:0060691", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060691", "name": "autosomal dominant thrombasthenia of Glanzmann and Naegeli", "description": "" }, { "id": "DOID:0060691", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060691", "name": "autosomal dominant Glanzmann thrombasthenia", "description": "" }, { "id": "MONDO:0008552", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008552", "name": "platelet-type bleeding disorder 16", "description": "An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32." }, { "id": "MONDO:0008552", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008552", "name": "autosomal dominant Glanzmann thrombasthenia", "description": "" }, { "id": "MONDO:0008552", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008552", "name": "autosomal dominant thrombasthenia of Glanzmann and Naegeli", "description": "" }, { "id": "MONDO:0008552", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008552", "name": "bleeding disorder, platelet-type, 16, autosomal dominant", "description": "" }, { "id": "MONDO:0008552", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008552", "name": "platelet-type bleeding disorder 16", "description": "" }, { "id": "MONDO:0008552", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008552", "name": "BDPLT16", "description": "" }, { "id": "MONDO:0008552", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008552", "name": "Glanzmann thrombasthenia, autosomal dominant", "description": "" }, { "id": "MONDO:0008552", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008552", "name": "bleeding disorder, platelet-type, 16", "description": "" }, { "id": "MONDO:0008552", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008552", "name": "thrombasthenia of Glanzmann and Naegeli, autosomal dominant", "description": "" }, { "id": "MIM:187800", "resource": "MIM", "url": "https://www.omim.org/entry/187800", "name": "Bleeding disorder, platelet-type, 16", "description": "Bleeding disorder, platelet-type, 16" } ], "evidence": [ { "id": "187800", "database": "MIM", "url": "https://www.omim.org/entry/187800" } ] }, { "disease_id": "DOID:2219", "recommended_name": { "id": "DOID:2219", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2219", "name": "Glanzmann's thrombasthenia", "description": "A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has_material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32." }, "synonyms": [ { "id": "DOID:2219", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2219", "name": "BDPLT2", "description": "" }, { "id": "DOID:2219", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2219", "name": "Glanzmann thrombasthenia", "description": "" }, { "id": "DOID:2219", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2219", "name": "Glycoprotein IIb/IIIa defect", "description": "" }, { "id": "DOID:2219", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2219", "name": "Thrombocytasthenia", "description": "" }, { "id": "DOID:2219", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2219", "name": "deficiency of GP IIb-IIIa complex", "description": "" }, { "id": "DOID:2219", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2219", "name": "deficiency of glycoprotein complex IIb-IIIa", "description": "" }, { "id": "DOID:2219", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2219", "name": "deficiency of platelet fibrinogen receptor", "description": "" }, { "id": "DOID:2219", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2219", "name": "platelet glycoprotein IIb-IIIa deficiency", "description": "" }, { "id": "DOID:2219", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2219", "name": "platelet-type bleeding disorder 2", "description": "" }, { "id": "DOID:2219", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2219", "name": "thrombasthenia of Glanzmann and Naegeli", "description": "" }, { "id": "MONDO:0031332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0031332", "name": "Glanzmann thrombasthenia 1", "description": "A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia" }, { "id": "MONDO:0031332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0031332", "name": "Glanzmann thrombasthenia", "description": "" }, { "id": "MONDO:0031332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0031332", "name": "Glanzmann's thrombasthenia", "description": "" }, { "id": "MONDO:0031332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0031332", "name": "BDPLT2", "description": "" }, { "id": "MONDO:0031332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0031332", "name": "Glanzmann thrombasthenia 1", "description": "" }, { "id": "MONDO:0031332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0031332", "name": "Thrombocytasthenia", "description": "" }, { "id": "MONDO:0031332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0031332", "name": "deficiency of GP IIb-IIIa complex", "description": "" }, { "id": "MONDO:0031332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0031332", "name": "deficiency of glycoprotein complex IIb-IIIa", "description": "" }, { "id": "MONDO:0031332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0031332", "name": "deficiency of platelet fibrinogen receptor", "description": "" }, { "id": "MONDO:0031332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0031332", "name": "glycoprotein IIb/IIIa defect", "description": "" }, { "id": "MONDO:0031332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0031332", "name": "platelet glycoprotein IIb-IIIa deficiency", "description": "" }, { "id": "MONDO:0031332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0031332", "name": "platelet-type bleeding disorder 2", "description": "" }, { "id": "MONDO:0031332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0031332", "name": "thrombasthenia", "description": "" }, { "id": "MONDO:0031332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0031332", "name": "thrombasthenia of Glanzmann and Naegeli", "description": "" }, { "id": "MONDO:0031332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0031332", "name": "Diacyclothrombopathia 2B 3A", "description": "" }, { "id": "MONDO:0031332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0031332", "name": "GP IIb-IIIa Complex, deficiency of", "description": "" }, { "id": "MONDO:0031332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0031332", "name": "GT", "description": "" }, { "id": "MONDO:0031332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0031332", "name": "Glanzmann thrombasthenia type A", "description": "" }, { "id": "MONDO:0031332", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0031332", "name": "Platelet fibrinogen receptor, deficiency of", 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"MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", 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}, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P08514", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08514" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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"DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P08514", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08514" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"R-HSA-9656223", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9656223", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000410", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000410", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P08514", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A0A3B3IU79", "url": "https://www.uniprot.org/uniprot/A0A3B3IU79", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3IU79-1", "url": "https://www.uniprot.org/uniprot/A0A3B3IU79-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EP83", "url": "https://www.uniprot.org/uniprot/K7EP83", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EP83-1", "url": "https://www.uniprot.org/uniprot/K7EP83-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08514", "url": "https://www.uniprot.org/uniprot/P08514", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08514-1", "url": "https://www.uniprot.org/uniprot/P08514-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08514-2", "url": "https://www.uniprot.org/uniprot/P08514-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08514-3", "url": "https://www.uniprot.org/uniprot/P08514-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MARALCPLQALWLLEWVLLLLGPCAAPPAWALNLDPVQLTFYAGPNGSQFGFSLDFHKDSHGRVAIVVGAPRTLGPSQEETGGVFLCPWRAEGGQCPSLLFDLRDETRNVGSQTLQTFKARQGLGASVVSWSDVIVACAPWQHWNVLEKTEEAEKTPVGSCFLAQPESGRRAEYSPCRGNTLSRIYVENDFSWDKRYCEAGFSSVVTQAGELVLGAPGGYYFLGLLAQAPVADIFSSYRPGILLWHVSSQSLSFDSSNPEYFDGYWGYSVAVGEFDGDLNTTEYVVGAPTWSWTLGAVEILDSYYQRLHRLRGEQMASYFGHSVAVTDVNGDGRHDLLVGAPLYMESRADRKLAEVGRVYLFLQPRGPHALGAPSLLLTGTQLYGRFGSAIAPLGDLDRDGYNDIAVAAPYGGPSGRGQVLVFLGQSEGLRSRPSQVLDSPFPTGSAFGFSLRGAVDIDDNGYPDLIVGAYGANQVAVYRAQPVVKASVQLLVQDSLNPAVKSCVLPQTKTPVSCFNIQMCVGATGHNIPQKLSLNAELQLDRQKPRQGRRVLLLGSQQAGTTLNLDLGGKHSPICHTTMAFLRDEADFRDKLSPIVLSLNVSLPPTEAGMAPAVVLHGDTHVQEQTRIVLDCGEDDVCVPQLQLTASVTGSPLLVGADNVLELQMDAANEGEGAYEAELAVHLPQGAHYMRALSNVEGFERLICNQKKENETRVVLCELGNPMKKNAQIGIAMLVSVGNLEEAGESVSFQLQIRSKNSQNPNSKIVLLDVPVRAEAQVELRGNSFPASLVVAAEEGEREQNSLDSWGPKVEHTYELHNNGPGTVNGLHLSIHLPGQSQPSDLLYILDIQPQGGLQCFPQPPVNPLKVDWGLPIPSPSPIHPAHHKRDRRQIFLPEPEQPSRLQDPVLVSCDSAPCTVVQCDLQEMARGQRAMVTVLAFLWLPSLYQRPLDQFVLQSHAWFNVSSLPYAVPPLSLPRGEAQVWTQLLRALEERAIPIWWVLVGVLGGLLLLTILVLAMWKVGFFKRNRPPLEEDDEEGE", "length": 1039, "header": "sp|P08514-1|ITA2B_HUMAN Isoform 1 of Integrin alpha-IIb OS=Homo sapiens OX=9606 GN=ITGA2B PE=1 SV=3 CANONICAL=P08514-1" }, "isoforms": [ { "isoform_ac": "A0A3B3IU79-1", "url": "", "sequence": { "sequence": "XAGWDKRYCEAGFSSVVTQAGELVLGAPGGYYFLGLLAQAPVADIFSSYRPGILLWHVSSQSLSFDSSNPEYFDGYWGYSVAVGEFDGDLNTTEYVVGAPTWSWTLGAVEILDSYYQRLHRLRGEQMASYFGHSVAVTDVNGDGRHDLLVGAPLYMESRADRKLAEVGRVYLFLQPRGPHALGAPSLLLTGTQLYGRFGSAIAPLGDLDRDGYNDIAVAAPYGGPSGRGQVLVFLGQSEGLRSRPSQVLDSPFPTGSAFGFSLRGAVDIDDNGYPDLIVGAYGANQVAVYRAQPVVKASVQLLVQDSLNPAVKSCVLPQTKTPVSCFNIQMCVGATGHNIPQKLSLNAELQLDRQKPRQGRRVLLLGSQQAGTTLNLDLGGKHSPICHTTMAFLRDEADFRDKLSPIVLSLNVSLPPTEAGMAPAVVLHGDTHVQEQTRIVLDCGEDDVCVPQLQLTASVTGSPLLVGADNVLELQMDAANEGEGAYEAELAVHLPQGAHYMRALSNVEGFERLICNQKKENETRVVLCELGNPMKKNAQIGIAMLVSVGNLEEAGESVSFQLQIRSKNSQNPNSKIVLLDVPVRAEAQVELRGNSFPASLVVAAEEGEREQNSLDSWGPKVEHTYELHNNGPGTVNGLHLSIHLPGQSQPSDLLYILDIQPQGGLQCFPQPPVNPLKVDWGLPIPSPSPIHPAHHKRDRRQIFLPEPEQPSRLQDPVLVSCDSAPCTVVQCDLQEMARGQRAMVTVLAFLWLPSLYQRPLDQFVLQSHAWFNVSSLPYAVPPLSLPRGEAQVGFFKRNRPPLEEDDEEGE", "length": 811, "header": "tr|A0A3B3IU79-1|A0A3B3IU79_HUMAN Computationally mapped isoform of Integrin subunit alpha 2b OS=Homo sapiens OX=9606 GN=ITGA2B PE=1 SV=1 CANONICAL=P08514-1" }, "locus": { "chromosome": "17", "start_pos": 44385340, "end_pos": 44372365, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000648408.1", "url": "https://www.ensembl.org/id/ENST00000648408.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498119.1", "url": "https://www.ensembl.org/id/ENSP00000498119.1" } ] } }, { "isoform_ac": "K7EP83-1", "url": "", "sequence": { "sequence": "XNSFPASLVVAAEEGEREQNSLDSWGPKVEHTYELHNNGPGTVNGLHLSIHLPGQSQPSDLLYILDIQPQGGLQCFPQPPVNPLKVGFFKRNRPPLEEDDEEGE", "length": 104, "header": "tr|K7EP83-1|ITA2B_HUMAN Computationally mapped isoform of Integrin alpha-IIb OS=Homo sapiens OX=9606 GN=ITGA2B PE=1 SV=1 CANONICAL=P08514-1" }, "locus": { "chromosome": "17", "start_pos": 44376184, "end_pos": 44372365, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000587295.5", "url": "https://www.ensembl.org/id/ENST00000587295.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000467269.1", "url": "https://www.ensembl.org/id/ENSP00000467269.1" } ] } }, { "isoform_ac": "P08514-1", "url": "", "sequence": { "sequence": "MARALCPLQALWLLEWVLLLLGPCAAPPAWALNLDPVQLTFYAGPNGSQFGFSLDFHKDSHGRVAIVVGAPRTLGPSQEETGGVFLCPWRAEGGQCPSLLFDLRDETRNVGSQTLQTFKARQGLGASVVSWSDVIVACAPWQHWNVLEKTEEAEKTPVGSCFLAQPESGRRAEYSPCRGNTLSRIYVENDFSWDKRYCEAGFSSVVTQAGELVLGAPGGYYFLGLLAQAPVADIFSSYRPGILLWHVSSQSLSFDSSNPEYFDGYWGYSVAVGEFDGDLNTTEYVVGAPTWSWTLGAVEILDSYYQRLHRLRGEQMASYFGHSVAVTDVNGDGRHDLLVGAPLYMESRADRKLAEVGRVYLFLQPRGPHALGAPSLLLTGTQLYGRFGSAIAPLGDLDRDGYNDIAVAAPYGGPSGRGQVLVFLGQSEGLRSRPSQVLDSPFPTGSAFGFSLRGAVDIDDNGYPDLIVGAYGANQVAVYRAQPVVKASVQLLVQDSLNPAVKSCVLPQTKTPVSCFNIQMCVGATGHNIPQKLSLNAELQLDRQKPRQGRRVLLLGSQQAGTTLNLDLGGKHSPICHTTMAFLRDEADFRDKLSPIVLSLNVSLPPTEAGMAPAVVLHGDTHVQEQTRIVLDCGEDDVCVPQLQLTASVTGSPLLVGADNVLELQMDAANEGEGAYEAELAVHLPQGAHYMRALSNVEGFERLICNQKKENETRVVLCELGNPMKKNAQIGIAMLVSVGNLEEAGESVSFQLQIRSKNSQNPNSKIVLLDVPVRAEAQVELRGNSFPASLVVAAEEGEREQNSLDSWGPKVEHTYELHNNGPGTVNGLHLSIHLPGQSQPSDLLYILDIQPQGGLQCFPQPPVNPLKVDWGLPIPSPSPIHPAHHKRDRRQIFLPEPEQPSRLQDPVLVSCDSAPCTVVQCDLQEMARGQRAMVTVLAFLWLPSLYQRPLDQFVLQSHAWFNVSSLPYAVPPLSLPRGEAQVWTQLLRALEERAIPIWWVLVGVLGGLLLLTILVLAMWKVGFFKRNRPPLEEDDEEGE", "length": 1039, "header": "sp|P08514-1|ITA2B_HUMAN Isoform 1 of Integrin alpha-IIb OS=Homo sapiens OX=9606 GN=ITGA2B PE=1 SV=3 CANONICAL=P08514-1" }, "locus": { "chromosome": "17", "start_pos": 44389473, "end_pos": 44372367, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000262407.6", "url": "https://www.ensembl.org/id/ENST00000262407.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000262407.5", "url": "https://www.ensembl.org/id/ENSP00000262407.5" } ] } }, { "isoform_ac": "P08514-2", "url": "", "sequence": { "sequence": "MARALCPLQALWLLEWVLLLLGPCAAPPAWALNLDPVQLTFYAGPNGSQFGFSLDFHKDSHGRVAIVVGAPRTLGPSQEETGGVFLCPWRAEGGQCPSLLFDLRDETRNVGSQTLQTFKARQGLGASVVSWSDVIVACAPWQHWNVLEKTEEAEKTPVGSCFLAQPESGRRAEYSPCRGNTLSRIYVENDFSWDKRYCEAGFSSVVTQAGELVLGAPGGYYFLGLLAQAPVADIFSSYRPGILLWHVSSQSLSFDSSNPEYFDGYWGYSVAVGEFDGDLNTTEYVVGAPTWSWTLGAVEILDSYYQRLHRLRGEQMASYFGHSVAVTDVNGDGRHDLLVGAPLYMESRADRKLAEVGRVYLFLQPRGPHALGAPSLLLTGTQLYGRFGSAIAPLGDLDRDGYNDIAVAAPYGGPSGRGQVLVFLGQSEGLRSRPSQVLDSPFPTGSAFGFSLRGAVDIDDNGYPDLIVGAYGANQVAVYRAQPVVKASVQLLVQDSLNPAVKSCVLPQTKTPVSCFNIQMCVGATGHNIPQKLSLNAELQLDRQKPRQGRRVLLLGSQQAGTTLNLDLGGKHSPICHTTMAFLRDEADFRDKLSPIVLSLNVSLPPTEAGMAPAVVLHGDTHVQEQTRIVLDCGEDDVCVPQLQLTASVTGSPLLVGADNVLELQMDAANEGEGAYEAELAVHLPQGAHYMRALSNVEGFERLICNQKKENETRVVLCELGNPMKKNAQIGIAMLVSVGNLEEAGESVSFQLQIRSKNSQNPNSKIVLLDVPVRAEAQVELRGNSFPASLVVAAEEGEREQNSLDSWGPKVEHTYELHNNGPGTVNGLHLSIHLPGQSQPSDLLYILDIQPQGGLQCFPQPPVNPLKVDWGLPIPSPSPIHPAHHKRDRRQIFLPEPEQPSRLQDPVLVSCDSAPCTVVQCDLQEMARGQRAMVTVLAFLWLPSLYQVWTQLLRALEERAIPIWWVLVGVLGGLLLLTILVLAMWKVGFFKRNRPPLEEDDEEGE", "length": 1005, "header": "sp|P08514-2|ITA2B_HUMAN Isoform 2 of Integrin alpha-IIb OS=Homo sapiens OX=9606 GN=ITGA2B PE=1 SV=3 CANONICAL=P08514-1" }, "locus": {} }, { "isoform_ac": "P08514-3", "url": "", "sequence": { "sequence": "MARALCPLQALWLLEWVLLLLGPCAAPPAWALNLDPVQLTFYAGPNGSQFGFSLDFHKDSHGRVAIVVGAPRTLGPSQEETGGVFLCPWRAEGGQCPSLLFDLRDETRNVGSQTLQTFKARQGLGASVVSWSDVIVACAPWQHWNVLEKTEEAEKTPVGSCFLAQPESGRRAEYSPCRGNTLSRIYVENDFSWDKRYCEAGFSSVVTQAGELVLGAPGGYYFLGLLAQAPVADIFSSYRPGILLWHVSSQSLSFDSSNPEYFDGYWGYSVAVGEFDGDLNTTEYVVGAPTWSWTLGAVEILDSYYQRLHRLRGEQMASYFGHSVAVTDVNGDGRHDLLVGAPLYMESRADRKLAEVGRVYLFLQPRGPHALGAPSLLLTGTQLYGRFGSAIAPLGDLDRDGYNDIAVAAPYGGPSGRGQVLVFLGQSEGLRSRPSQVLDSPFPTGSAFGFSLRGAVDIDDNGYPDLIVGAYGANQVAVYRAQPVVKASVQLLVQDSLNPAVKSCVLPQTKTPVSCFNIQMCVGATGHNIPQKLSLNAELQLDRQKPRQGRRVLLLGSQQAGTTLNLDLGGKHSPICHTTMAFLRDEADFRDKLSPIVLSLNVSLPPTEAGMAPAVVLHGDTHVQEQTRIVLDCGEDDVCVPQLQLTASVTGSPLLVGADNVLELQMDAANEGEGAYEAELAVHLPQGAHYMRALSNVEGFERLICNQKKENETRVVLCELGNPMKKNAQIGIAMLVSVGNLEEAGESVSFQLQIRSKNSQNPNSKIVLLDVPVRAEAQVELRGNSFPASLVVAAEEGEREQNSLDSWGPKVEHTYELHNNGPGTVNGLHLSIHLPGQSQPSDLLYILDIQPQGGLQCFPQPPVNPLKVDWGLPIPSPSPIHPAHHKRDRRQIFLPEPEQPSRLQDPVLVVSRLSGLWPGLPGTHGAEGMGGGRGVRVCCGPLWATLGPWEHFK", "length": 953, "header": "sp|P08514-3|ITA2B_HUMAN Isoform 3 of Integrin alpha-IIb OS=Homo sapiens OX=9606 GN=ITGA2B PE=1 SV=3 CANONICAL=P08514-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 280, "start_aa": "Asn", "end_pos": 280, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn280", "evidence": [ { "id": "P08514", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08514#ptm_processing" }, { "id": "2775232", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/2775232" }, { "id": "3FCS", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3FCS" }, { "id": "19111664", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19111664" }, { "id": "2VC2", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/2VC2" }, { "id": "2VDK", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/2VDK" }, { "id": "2VDL", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/2VDL" }, { "id": "2VDM", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/2VDM" }, { "id": "2VDN", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/2VDN" }, { "id": "2VDP", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/2VDP" }, { "id": "2VDQ", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/2VDQ" }, { "id": "2VDR", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/2VDR" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 46, "start_aa": "Asn", "end_pos": 46, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn46", "evidence": [ { "id": "P08514", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08514#ptm_processing" }, { "id": "2775232", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/2775232" }, { "id": "3FCU", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3FCU" }, { "id": "15378069", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/15378069" }, { "id": "1TYE", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/1TYE" }, { "id": "3FCS", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3FCS" }, { "id": "19111664", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19111664" }, { "id": "2VC2", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/2VC2" }, { "id": "2VDK", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/2VDK" }, { "id": "2VDL", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/2VDL" }, { "id": "2VDM", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/2VDM" }, { "id": "2VDN", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/2VDN" }, { "id": "2VDP", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/2VDP" }, { "id": "2VDQ", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/2VDQ" }, { "id": "2VDR", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/2VDR" }, { "id": "3ZE2", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3ZE2" }, { "id": "4CAK", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/4CAK" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 601, "start_aa": "Asn", "end_pos": 601, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn601", "evidence": [ { "id": "P08514", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08514#ptm_processing" }, { "id": "16335952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16335952" }, { "id": "2775232", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/2775232" }, { "id": "3FCS", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3FCS" }, { "id": "19111664", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19111664" }, { "id": "4CAK", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/4CAK" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "site_category": "reported", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 603, "start_aa": "Ser", "end_pos": 603, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser603", "evidence": [ { "id": "4CAK", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/4CAK" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 711, "start_aa": "Asn", "end_pos": 711, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn711", "evidence": [ { "id": "P08514", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08514#ptm_processing" }, { "id": "2775232", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/2775232" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G53434XO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 876, "start_aa": "Ser", "end_pos": 876, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser876", "evidence": [ { "id": "P08514", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G58001LT", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 876, "start_aa": "Ser", "end_pos": 876, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser876", "evidence": [ { "id": "P08514", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G29068FM", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 878, "start_aa": "Ser", "end_pos": 878, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser878", "evidence": [ { "id": "P08514", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 878, "start_aa": "Ser", "end_pos": 878, "end_aa": "Ser", "residue": "Ser", "site_lbl": 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"P08514", "url": "https://www.uniprot.org/uniprot/P08514" } ], "reference": [ { "type": "PubMed", "id": "9473221", "url": "https://glygen.org/publication/PubMed/9473221" } ] }, { "title": "Identification of the ligand binding site for the integrin alpha9 beta1 in the third fibronectin type III repeat of tenascin-C.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Yokosaki Y, Matsuura N, Higashiyama S, Murakami I, Obara M, Yamakido M, Shigeto N, Chen J, Sheppard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "9565552", "url": "https://glygen.org/publication/PubMed/9565552" } ] }, { "title": "Multiple Grb2-mediated integrin-stimulated signaling pathways to ERK2/mitogen-activated protein kinase: summation of both c-Src- and focal adhesion kinase-initiated tyrosine phosphorylation events.", "journal": "Molecular and cellular biology", "date": "1998", "authors": "Schlaepfer DD, Jones KC, Hunter T", "evidence": [ { "database": "Reactome", "id": "R-HSA-354194", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-354194" } ], "reference": [ { "type": "PubMed", "id": "9566877", "url": "https://glygen.org/publication/PubMed/9566877" } ] }, { "title": "Cartilage oligomeric matrix protein shows high affinity zinc-dependent interaction with triple helical collagen.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Rosenberg K, Olsson H, Morgelin M, Heinegard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "9685393", "url": "https://glygen.org/publication/PubMed/9685393" } ] }, { "title": "Novel point mutations in the alphaIIb subunit (Phe289-->Ser, Glu324-->Lys and Gln747-->Pro) causing thrombasthenic phenotypes in four Japanese patients.", "journal": "British journal of haematology", "date": "1998", "authors": "Ambo H, Kamata T, Handa M, Kawai Y, Oda A, Murata M, Takada Y, Ikeda Y", "evidence": [ { "database": "UniProtKB", "id": "P08514", "url": "https://www.uniprot.org/uniprot/P08514" } ], "reference": [ { "type": "PubMed", "id": "9722314", "url": "https://glygen.org/publication/PubMed/9722314" } ] }, { "title": "MP1: a MEK binding partner that enhances enzymatic activation of the MAP kinase cascade.", "journal": "Science (New York, N.Y.)", "date": "1998", "authors": "Schaeffer HJ, Catling AD, Eblen ST, Collier LS, Krauss A, Weber MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5674135", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5674135" } ], "reference": [ { "type": "PubMed", "id": "9733512", "url": "https://glygen.org/publication/PubMed/9733512" } ] }, { "title": "Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia.", "journal": "British journal of haematology", "date": "1998", "authors": "Ruan J, Peyruchaud O, Alberio L, Valles G, Clemetson K, Bourre F, Nurden AT", "evidence": [ { "database": "UniProtKB", "id": "P08514", "url": "https://www.uniprot.org/uniprot/P08514" } ], "reference": [ { "type": "PubMed", "id": "9734640", "url": "https://glygen.org/publication/PubMed/9734640" } ] }, { "title": "A Gln747-->Pro substitution in the IIb subunit is responsible for a moderate IIbbeta3 deficiency in Glanzmann thrombasthenia.", "journal": "Blood", "date": "1998", "authors": "Tadokoro S, Tomiyama Y, Honda S, Arai M, Yamamoto N, Shiraga M, Kosugi S, Kanakura Y, Kurata Y, Matsuzawa Y", "evidence": [ { "database": "UniProtKB", "id": "P08514", "url": "https://www.uniprot.org/uniprot/P08514" } ], "reference": [ { "type": "PubMed", "id": "9763559", "url": "https://glygen.org/publication/PubMed/9763559" } ] }, { "title": "Identification of a novel truncated alphaIIb integrin.", "journal": "Cancer Res.", "date": "1998", "authors": "Trikha M, Cai Y, Grignon D, Honn K V", "evidence": [ { "database": "UniProtKB", "id": "P08514", "url": "https://www.uniprot.org/uniprot/P08514" } ], "reference": [ { "type": "PubMed", "id": "9809974", "url": "https://glygen.org/publication/PubMed/9809974" } ] }, { "title": "R to Q amino acid substitution in the GFFKR sequence of the cytoplasmic domain of the integrin IIb subunit in a patient with a Glanzmann's thrombasthenia-like syndrome.", "journal": "Blood", "date": "1998", "authors": "Peyruchaud O, Nurden AT, Milet S, Macchi L, Pannochia A, Bray PF, Kieffer N, Bourre F", "evidence": [ { "database": "UniProtKB", "id": "P08514", "url": "https://www.uniprot.org/uniprot/P08514" } ], "reference": [ { "type": "PubMed", "id": "9834222", "url": "https://glygen.org/publication/PubMed/9834222" } ] }, { "title": "Effect of the interaction between fibronectin and VLA-4 on the proliferation of human B cells, especially a novel human B-cell line, OPM-3.", "journal": "British journal of haematology", "date": "1998", "authors": "Yoshida H, Nishiura T, Karasuno T, Matsumura I, Ishikawa J, Yoshimura M, Yokota T, Okajima Y, Ogawa M, Kanakura Y, Tomiyama Y, Matsuzawa Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "9858236", "url": "https://glygen.org/publication/PubMed/9858236" } ] }, { "title": "Identification of constitutive and ras-inducible phosphorylation sites of KSR: implications for 14-3-3 binding, mitogen-activated protein kinase binding, and KSR overexpression.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Cacace AM, Michaud NR, Therrien M, Mathes K, Copeland T, Rubin GM, Morrison DK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5674135", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5674135" } ], "reference": [ { "type": "PubMed", "id": "9858547", "url": "https://glygen.org/publication/PubMed/9858547" } ] }, { "title": "Molecular genetic analysis of a compound heterozygote for the glycoprotein (GP) IIb gene associated with Glanzmann's thrombasthenia: disruption of the 674-687 disulfide bridge in GPIIb prevents surface exposure of GPIIb-IIIa complexes.", "journal": "Blood", "date": "1999", "authors": "Gonzalez-Manchon C, Fernandez-Pinel M, Arias-Salgado EG, Ferrer M, Alvarez MV, Garcia-Munoz S, Ayuso MS, Parrilla R", "evidence": [ { "database": "UniProtKB", "id": "P08514", "url": "https://www.uniprot.org/uniprot/P08514" } ], "reference": [ { "type": "PubMed", "id": "9920835", "url": "https://glygen.org/publication/PubMed/9920835" } ] }, { "title": "Tenascin-C inhibits beta1 integrin-dependent cell adhesion and neurite outgrowth on fibronectin by a disialoganglioside-mediated signaling mechanism.", "journal": "Glycobiology", "date": "1999", "authors": "Probstmeier R, Pesheva P", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "9949188", "url": "https://glygen.org/publication/PubMed/9949188" } ] } ], "pathway": [ { "id": "hsa:3674", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3674", "resource": "KEGG Pathway" }, { "id": "R-HSA-114608", "name": "Platelet degranulation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608", "resource": "Reactome", "description": "Platelet degranulation" }, { "id": "R-HSA-216083", "name": "Integrin cell surface interactions", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083", "resource": "Reactome", "description": "Integrin cell surface interactions" }, { "id": "R-HSA-3000178", "name": "ECM proteoglycans", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178", "resource": "Reactome", "description": "ECM proteoglycans" }, { "id": "R-HSA-354192", "name": "Integrin signaling", "url": 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"https://www.uniprot.org/uniprot/P08514" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P08514", "url": "https://www.uniprot.org/uniprot/P08514" } ], "pmid": "" }, { "name": "blood microparticle", "id": "GO:0072562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072562", "evidence": [ { "database": "UniProtKB", "id": "P08514", "url": "https://www.uniprot.org/uniprot/P08514" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P08514", "url": "https://www.uniprot.org/uniprot/P08514" } ], "pmid": "" }, { "name": "platelet alpha granule membrane", "id": "GO:0031092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031092", "evidence": [ { "database": "UniProtKB", "id": "P08514", "url": "https://www.uniprot.org/uniprot/P08514" } ], "pmid": "" }, { "name": "integrin complex", "id": "GO:0008305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008305", "evidence": [ { "database": "UniProtKB", "id": "P08514", "url": "https://www.uniprot.org/uniprot/P08514" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 7, "go_terms": [ { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "P08514", "url": "https://www.uniprot.org/uniprot/P08514" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P08514", "url": "https://www.uniprot.org/uniprot/P08514" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "P08514", "url": "https://www.uniprot.org/uniprot/P08514" } ], "pmid": "" }, { "name": "cell adhesion mediated by integrin", "id": "GO:0033627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033627", "evidence": [ { "database": "UniProtKB", "id": "P08514", "url": "https://www.uniprot.org/uniprot/P08514" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "P08514", "url": "https://www.uniprot.org/uniprot/P08514" } ], "pmid": "" }, { "name": "positive regulation of leukocyte migration", "id": "GO:0002687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002687", "evidence": [ { "database": "UniProtKB", "id": "P08514", "url": "https://www.uniprot.org/uniprot/P08514" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P08514", "url": "https://www.uniprot.org/uniprot/P08514" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P08514", "url": "https://www.uniprot.org/uniprot/P08514" } ], "pmid": "" }, { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "P08514", "url": "https://www.uniprot.org/uniprot/P08514" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P08514", "url": "https://www.uniprot.org/uniprot/P08514" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P08514", "url": "https://www.uniprot.org/uniprot/P08514" } ], "pmid": "" }, { "name": "extracellular matrix binding", "id": "GO:0050840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050840", "evidence": [ { "database": "UniProtKB", "id": "P08514", "url": "https://www.uniprot.org/uniprot/P08514" } ], "pmid": "" }, { "name": "fibrinogen binding", "id": "GO:0070051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070051", "evidence": [ { "database": "UniProtKB", "id": "P08514", "url": "https://www.uniprot.org/uniprot/P08514" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "integrin alpha-IIb O-glycosylated 1 (human)", "definition": "An integrin alpha-IIb (human) that has been O-glycosylated at the residue equivalent to Ser-876 of the amino acid sequence represented by UniProtKB:P08514-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P08514-1, Ser-876, MOD:00002~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054447", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054447" } ] }, { "name": "integrin alpha-IIb O-glycosylated 2 (human)", "definition": "An integrin alpha-IIb (human) that has been O-glycosylated at the residue equivalent to Ser-876 of the amino acid sequence represented by UniProtKB:P08514-1, in which the glycan composition is represented by GlyTouCan:G58001LT. Example: UniProtKB:P08514-1, Ser-876, MOD:00002~GNO:G58001LT. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054448", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054448" } ] }, { "name": "integrin alpha-IIb O-glycosylated 3 (human)", "definition": "An integrin alpha-IIb (human) that has been O-glycosylated at the residue equivalent to Ser-878 of the amino acid sequence represented by UniProtKB:P08514-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P08514-1, Ser-878, MOD:00002~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054449", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054449" } ] }, { "name": "integrin alpha-IIb O-glycosylated 4 (human)", "definition": "An integrin alpha-IIb (human) that has been O-glycosylated at the residue equivalent to Ser-878 of the amino acid sequence represented by UniProtKB:P08514-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P08514-1, Ser-878, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054450", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054450" } ] } ], "site_annotation": [ { "start_pos": 280, "end_pos": 282, "annotation": "n_glycosylation_sequon" }, { "start_pos": 46, "end_pos": 48, "annotation": "n_glycosylation_sequon" }, { "start_pos": 601, "end_pos": 603, "annotation": "n_glycosylation_sequon" }, { "start_pos": 711, "end_pos": 713, "annotation": "n_glycosylation_sequon" }, { "start_pos": 962, "end_pos": 964, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 46, 280, 601, 711, 962 ], "o_linked_sites": [ 603, 876, 878 ], "snv_sites": [ 46, 48, 130, 282, 292, 405, 472, 486, 571, 577, 592, 603, 711, 713, 821, 876, 878, 962 ], "glycation_sites": [], "phosphorylation_sites": [ 107 ], "sequon_annotation_sites": [ { "start_pos": 280, "end_pos": 282 }, { "start_pos": 46, "end_pos": 48 }, { "start_pos": 601, "end_pos": 603 }, { "start_pos": 711, "end_pos": 713 }, { "start_pos": 962, "end_pos": 964 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 11 }, { "field": "total_sites", "count": 8 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "field": "o_linked_glycans", "count": 4 }, { "field": "o_linked_glycan_sites", "count": 4 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 4 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 21 }, { "field": "total_sites", "count": 18 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 15 }, { "field": "total_sites", "count": 13 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 327 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }