{ "uniprot_canonical_ac": "O00459-1", "uniprot_ac": "O00459", "uniprot_id": "P85B_HUMAN", "mass": { "chemical_mass": 81545.0, "monoisotopic_mass": 81545.0 }, "refseq": { "ac": "NP_005018", "name": "phosphatidylinositol 3-kinase regulatory subunit beta", "summary": "Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subunit. The protein encoded by this gene is a regulatory component of PI3K. Three transcript variants, one protein coding and the other two non-protein coding, have been found for this gene. [provided by RefSeq, Apr 2019].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005018" }, "gene_names": [ { "name": "PIK3R2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00459", "id": "O00459" }, { "name": "MPPH; MPPH1; p85; p85-BETA; P85B; p85beta", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005018", "id": "NP_005018" }, { "name": "PIK3R2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005018", "id": "NP_005018" } ], "protein_names": [ { "name": "Phosphatidylinositol 3-kinase regulatory subunit beta", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00459" }, { "name": "PI3-kinase regulatory subunit beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00459" }, { "name": "PI3-kinase subunit p85-beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00459" }, { "name": "PI3K regulatory subunit beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00459" }, { "name": "Phosphatidylinositol 3-kinase 85 kDa regulatory subunit beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00459" }, { "name": "PtdIns-3-kinase regulatory subunit beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00459" }, { "name": "PtdIns-3-kinase regulatory subunit p85-beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00459" }, { "name": "phosphatidylinositol 3-kinase regulatory subunit beta", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005018", "id": "NP_005018" }, { "name": "phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 2 (p85 beta); PI3-kinase subunit p85-beta; PI3K regulatory subunit beta; ptdIns-3-kinase regulatory subunit p85-beta; phosphatidylinositol 3-kinase 85 kDa regulatory subunit beta; phosphoinositide-3-kinase regulatory subunit beta; phosphoinositide-3-kinase, regulatory subunit 2 (beta)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005018", "id": "NP_005018" } ], "function": [ { "annotation": "FAK-mediated phosphorylation at Y464 regulates p85beta nuclear translocation to promote tumorigenesis of ccRCC by repressing RB1 expression.", "evidence": [ { "database": "RefSeq", "id": "NP_005018", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005018" }, { "database": "PubMed", "id": "36857183", "url": "https://glygen.org/publication/PubMed/36857183" } ] }, { "annotation": "LncRNA HOTAIR regulates the PI3K/AKT pathway via the miR-126-3p/PIK3R2 axis to participate in synovial angiogenesis in rheumatoid arthritis.", "evidence": [ { "database": "RefSeq", "id": "NP_005018", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005018" }, { "database": "PubMed", "id": "37904709", "url": "https://glygen.org/publication/PubMed/37904709" } ] }, { "annotation": "LncRNA XLOC013218 promotes cell proliferation and TMZ resistance by targeting the PIK3R2-mediated PI3K/AKT pathway in glioma.", "evidence": [ { "database": "RefSeq", "id": "NP_005018", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005018" }, { "database": "PubMed", "id": "35637600", "url": "https://glygen.org/publication/PubMed/35637600" } ] }, { "annotation": "PIK3R2 predicts poor outcomes for patients with melanoma and contributes to the malignant progression via PI3K/AKT/NF-kappaB axis.", "evidence": [ { "database": "RefSeq", "id": "NP_005018", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005018" }, { "database": "PubMed", "id": "36528701", "url": "https://glygen.org/publication/PubMed/36528701" } ] }, { "annotation": "Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subunit. The protein encoded by this gene is a regulatory component of PI3K. Three transcript variants, one protein coding and the other two non-protein coding, have been found for this gene. [provided by RefSeq, Apr 2019].", "evidence": [ { "database": "RefSeq", "id": "NP_005018", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005018" } ] }, { "annotation": "Regulatory subunit of phosphoinositide-3-kinase (PI3K), a kinase that phosphorylates PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Binds to activated (phosphorylated) protein-tyrosine kinases, through its SH2 domain, and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane. Indirectly regulates autophagy (PubMed:23604317). Promotes nuclear translocation of XBP1 isoform 2 in a ER stress- and/or insulin-dependent manner during metabolic overloading in the liver and hence plays a role in glucose tolerance improvement (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O00459", "url": "https://www.uniprot.org/uniprot/O00459#function" }, { "database": "PubMed", "id": "23604317", "url": "https://glygen.org/publication/PubMed/23604317" }, { "database": "UniProtKB", "id": "O08908", "url": "https://www.uniprot.org/uniprot/O08908#function" } ] }, { "annotation": "SPTBN1 attenuates rheumatoid arthritis synovial cell proliferation, invasion, migration and inflammatory response by binding to PIK3R2.", "evidence": [ { "database": "RefSeq", "id": "NP_005018", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005018" }, { "database": "PubMed", "id": "36444616", "url": "https://glygen.org/publication/PubMed/36444616" } ] }, { "annotation": "This paper reports the first purification of a phosphoinositide 3-kinase and shows that the protein is a heterodimer of an 85 kd regulatory subunit that mediates binding to phosphorylated proteins and a 110 kd catalytic subunit.", "evidence": [ { "database": "RefSeq", "id": "NP_005018", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005018" }, { "database": "PubMed", "id": "2174051", "url": "https://glygen.org/publication/PubMed/2174051" } ] } ], "disease": [ { "disease_id": "MONDO:0011313", "recommended_name": { "id": "MONDO:0011313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011313", "name": "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1", "description": "Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the PIK3R2 gene." }, "synonyms": [ { "id": "MONDO:0011313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011313", "name": "PIK3R2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome", "description": "" }, { "id": "MONDO:0011313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011313", "name": "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1", "description": "" }, { "id": "MONDO:0011313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011313", "name": "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 1", "description": "" }, { "id": "MONDO:0011313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011313", "name": "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in PIK3R2", "description": "" }, { "id": "MONDO:0011313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011313", "name": "MPPH1", "description": "" }, { "id": "MONDO:0011313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011313", "name": "Meg-PMG-Megacc syndrome", "description": "" }, { "id": "MONDO:0011313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011313", "name": "megalencephaly, mega corpus callosum, and complete lack of motor development", "description": "" }, { "id": "MONDO:0011313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011313", "name": "megalencephaly, polymicrogyria, mega corpus callosum syndrome", "description": "" }, { "id": "MIM:603387", "resource": "MIM", "url": "https://www.omim.org/entry/603387", "name": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1", "description": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1" } ], "evidence": [ { "id": "603387", "database": "MIM", "url": "https://www.omim.org/entry/603387" } ] } ], "snv": [ { "evidence": [ { "id": "O00459", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00459" } ], "glycoeffect": [], "start_pos": 373, "end_pos": 373, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4). In dbSNP: rs587776934.", "chr_id": "19", "chr_pos": "18162974", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G373", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" 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"name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": 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"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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "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 familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "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": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00459", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00459" } ], "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O00459", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00459" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "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 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"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", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": 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isoform of Phosphoinositide-3-kinase regulatory subunit 2 OS=Homo sapiens OX=9606 GN=PIK3R2 PE=1 SV=1 CANONICAL=O00459-1" }, "locus": { "chromosome": "19", "start_pos": 18166037, "end_pos": 18163145, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000672815.1", "url": "https://www.ensembl.org/id/ENST00000672815.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000500792.1", "url": "https://www.ensembl.org/id/ENSP00000500792.1" } ] } }, { "isoform_ac": "A0A7I2U3A3-1", "url": "", "sequence": { "sequence": "MAGPEGFQYRALYPFRRERPEDLELLPGDVLVVSRAALQALGVAEGGERCPQSVGWMPGLNERTRQRGDFPGTYVEFLGPVALARPGPRPRGPRPLPARPRDGAPEPGLTLPDLPEQFSPPDVAPPLLVKLVEAIERTGLDSESHYRPELPAPRTDWSLSDVDQWDTAALADGIKSFLLALPAPLVTPEASAEARRALRGVSPALTSRRCWWRSCFRNTWKSRRLRPQRCRLNPPRQSRPPQSWPMEGAHPPCRMLSGTGGTFQGRR", "length": 267, "header": "tr|A0A7I2U3A3-1|A0A7I2U3A3_HUMAN Computationally mapped isoform of Phosphoinositide-3-kinase regulatory subunit 2 OS=Homo sapiens OX=9606 GN=PIK3R2 PE=1 SV=1 CANONICAL=O00459-1" }, "locus": { "chromosome": "19", "start_pos": 18162415, "end_pos": 18155880, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000617130.5", "url": "https://www.ensembl.org/id/ENST00000617130.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000477864.2", "url": "https://www.ensembl.org/id/ENSP00000477864.2" } ] } }, { "isoform_ac": "E9PFP1-1", "url": "", "sequence": { "sequence": "MAGPEGFQYRALYPFRRERPEDLELLPGDVLVVSRAALQALGVAEGGERCPQSVGWMPGLNERTRQRGDFPGTYVEFLGPVALARPGPRPRGPRPLPARPRDGAPEPGLTLPDLPEQFSPPDVAPPLLVKLVEAIERTGLDSESHYRPELPAPRTDWSLSDVDQWDTAALADGIKSFLLALPAPLVTPEASAEARRALREAAGPVGPALEPPTLPLHRALTLRFLLQHLGRVASRAPALGPAVRALGATFGPLLLRAPPPPSSPPPGGAPDGSEPSPDFPALLVEKLLQEHLEEQEVAPPALPPKPPKAKPASTVLANGGSPPSLQDAEWYWGDISREEVNEKLRDTPDGTFLVRDASSKIQGEYTLTLRKGGNNKLIKVFHRDGHYGFSEPLTFCSVVDLINHYRHESLAQYNAKLDTRLLYPVSKYQQDQIVKEDSVEAVGAQLKVYHQQYQDKSREYDQLYEEYTRTSQGLLGSPRRC", "length": 481, "header": "tr|E9PFP1-1|P85B_HUMAN Computationally mapped isoform of Phosphatidylinositol 3-kinase regulatory subunit beta OS=Homo sapiens OX=9606 GN=PIK3R2 PE=1 SV=1 CANONICAL=O00459-1" }, "locus": { "chromosome": "19", "start_pos": 18166137, "end_pos": 18155880, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000426902.5", "url": "https://www.ensembl.org/id/ENST00000426902.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000395636.1", "url": "https://www.ensembl.org/id/ENSP00000395636.1" } ] } }, { "isoform_ac": "O00459-1", "url": "", "sequence": { "sequence": "MAGPEGFQYRALYPFRRERPEDLELLPGDVLVVSRAALQALGVAEGGERCPQSVGWMPGLNERTRQRGDFPGTYVEFLGPVALARPGPRPRGPRPLPARPRDGAPEPGLTLPDLPEQFSPPDVAPPLLVKLVEAIERTGLDSESHYRPELPAPRTDWSLSDVDQWDTAALADGIKSFLLALPAPLVTPEASAEARRALREAAGPVGPALEPPTLPLHRALTLRFLLQHLGRVASRAPALGPAVRALGATFGPLLLRAPPPPSSPPPGGAPDGSEPSPDFPALLVEKLLQEHLEEQEVAPPALPPKPPKAKPASTVLANGGSPPSLQDAEWYWGDISREEVNEKLRDTPDGTFLVRDASSKIQGEYTLTLRKGGNNKLIKVFHRDGHYGFSEPLTFCSVVDLINHYRHESLAQYNAKLDTRLLYPVSKYQQDQIVKEDSVEAVGAQLKVYHQQYQDKSREYDQLYEEYTRTSQELQMKRTAIEAFNETIKIFEEQGQTQEKCSKEYLERFRREGNEKEMQRILLNSERLKSRIAEIHESRTKLEQQLRAQASDNREIDKRMNSLKPDLMQLRKIRDQYLVWLTQKGARQKKINEWLGIKNETEDQYALMEDEDDLPHHEERTWYVGKINRTQAEEMLSGKRDGTFLIRESSQRGCYACSVVVDGDTKHCVIYRTATGFGFAEPYNLYGSLKELVLHYQHASLVQHNDALTVTLAHPVRAPGPGPPPAAR", "length": 728, "header": "sp|O00459-1|P85B_HUMAN Isoform 1 of Phosphatidylinositol 3-kinase regulatory subunit beta OS=Homo sapiens OX=9606 GN=PIK3R2 PE=1 SV=2 CANONICAL=O00459-1" }, "locus": { "chromosome": "19", "start_pos": 18169291, "end_pos": 18155880, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000222254.13", "url": "https://www.ensembl.org/id/ENST00000222254.13" }, { "database": "Ensembl Peptide", "id": "ENSP00000222254.6", "url": "https://www.ensembl.org/id/ENSP00000222254.6" } ] } }, { "isoform_ac": "V9GYJ4-1", "url": "", "sequence": { "sequence": "XEGNEKEMQRILLNSERLKSRIAEIHESRTKLEQQLRAQASDNREIDKRMNSLKPDLMQLRKIRDQYLVWLTQKGARQKKINEWLGIKNETEDTHSWRTRTISRTTRNALGTWARSTARRQRRC", "length": 124, "header": "tr|V9GYJ4-1|V9GYJ4_HUMAN Computationally mapped isoform of Phosphoinositide-3-kinase regulatory subunit 2 OS=Homo sapiens OX=9606 GN=PIK3R2 PE=1 SV=1 CANONICAL=O00459-1" }, "locus": { "chromosome": "19", "start_pos": 18168825, "end_pos": 18166276, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000464016.3", "url": "https://www.ensembl.org/id/ENST00000464016.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000476825.1", "url": "https://www.ensembl.org/id/ENSP00000476825.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 262, "end_pos": 262, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00459", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00459" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "phospho.ELM", "id": "O00459", "url": "http://phospho.elm.eu.org/byAccession/O00459.html" } ], "site_lbl": "Ser262" }, { "start_pos": 263, "end_pos": 263, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00459", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00459" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O00459", "url": "http://phospho.elm.eu.org/byAccession/O00459.html" } ], "site_lbl": "Ser263" }, { "start_pos": 365, "end_pos": 365, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00459", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00459" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "phospho.ELM", "id": "O00459", "url": "http://phospho.elm.eu.org/byAccession/O00459.html" } ], "site_lbl": "Tyr365" }, { "start_pos": 460, "end_pos": 460, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00459", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00459" }, { "database": "PubMed", "id": "16497976", "url": "https://glygen.org/publication/PubMed/16497976" } ], "site_lbl": "Tyr460" }, { "start_pos": 464, "end_pos": 464, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "O00459", "url": "https://www.uniprot.org/uniprot/O00459" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O00459", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00459" }, { "database": "PubMed", "id": "15951569", "url": "https://glygen.org/publication/PubMed/15951569" }, { "database": "PubMed", "id": "16497976", "url": "https://glygen.org/publication/PubMed/16497976" }, { "database": "PubMed", "id": "17016520", "url": "https://glygen.org/publication/PubMed/17016520" }, { "database": "phospho.ELM", "id": "O00459", "url": "http://phospho.elm.eu.org/byAccession/O00459.html" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ], "site_lbl": "Tyr464" }, { "start_pos": 467, "end_pos": 467, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00459", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00459" }, { "database": "PubMed", "id": "16497976", "url": "https://glygen.org/publication/PubMed/16497976" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "phospho.ELM", "id": "O00459", "url": "http://phospho.elm.eu.org/byAccession/O00459.html" } ], "site_lbl": "Tyr467" }, { "start_pos": 468, "end_pos": 468, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00459", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00459" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr468" }, { "start_pos": 487, "end_pos": 487, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00459", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00459" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr487" }, { "start_pos": 605, "end_pos": 605, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "O00459", "url": "https://www.uniprot.org/uniprot/O00459" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O00459", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00459" }, { "database": "PubMed", "id": "17016520", "url": "https://glygen.org/publication/PubMed/17016520" }, { "database": "PubMed", "id": "17389395", "url": "https://glygen.org/publication/PubMed/17389395" } ], "site_lbl": "Tyr605" }, { "start_pos": 655, "end_pos": 655, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "O00459", "url": "https://www.uniprot.org/uniprot/O00459" }, { "database": "PubMed", "id": "23604317", "url": "https://glygen.org/publication/PubMed/23604317" }, { "database": "iPTMnet", "id": "O00459", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00459" } ], "site_lbl": "Tyr655" }, { "start_pos": 686, "end_pos": 686, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00459", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00459" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ], "site_lbl": "Tyr686" } ], "glycation": [], "keywords": [], "publication": [ { "title": "The hematopoietic-specific adaptor protein gads functions in T-cell signaling via interactions with the SLP-76 and LAT adaptors.", "journal": "Current biology : CB", "date": "1999", "authors": "Liu SK, Fang N, Koretzky GA, McGlade CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2424491", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2424491" } ], "reference": [ { "type": "PubMed", "id": "10021361", "url": "https://glygen.org/publication/PubMed/10021361" } ] }, { "title": "Tyrosine phosphorylation of SLP-76 is downstream of Syk following stimulation of the collagen receptor in platelets.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Gross BS, Lee JR, Clements JL, Turner M, Tybulewicz VL, Findell PR, Koretzky GA, Watson SP", "evidence": [ { "database": "Reactome", "id": "R-HSA-2424491", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2424491" } ], "reference": [ { "type": "PubMed", "id": "10026222", "url": "https://glygen.org/publication/PubMed/10026222" } ] }, { "title": "Interaction of the small G protein RhoA with the C terminus of human phospholipase D1.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Yamazaki M, Zhang Y, Watanabe H, Yokozeki T, Ohno S, Kaibuchi K, Shibata H, Mukai H, Ono Y, Frohman MA, Kanaho Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-8980692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8980692" } ], "reference": [ { "type": "PubMed", "id": "10037681", "url": "https://glygen.org/publication/PubMed/10037681" } ] }, { "title": "Vascular endothelial growth factor receptor KDR tyrosine kinase activity is increased by autophosphorylation of two activation loop tyrosine residues.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Kendall RL, Rutledge RZ, Mao X, Tebben AJ, Hungate RW, Thomas KA", "evidence": [ { "database": "Reactome", "id": "R-HSA-4420097", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4420097" } ], "reference": [ { "type": "PubMed", "id": "10037737", "url": "https://glygen.org/publication/PubMed/10037737" } ] }, { "title": "Angiopoietins 3 and 4: diverging gene counterparts in mice and humans.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Valenzuela DM, Griffiths JA, Rojas J, Aldrich TH, Jones PF, Zhou H, McClain J, Copeland NG, Gilbert DJ, Jenkins NA, Huang T, Papadopoulos N, Maisonpierre PC, Davis S, Yancopoulos GD", "evidence": [ { "database": "Reactome", "id": "R-HSA-210993", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210993" } ], "reference": [ { "type": "PubMed", "id": "10051567", "url": "https://glygen.org/publication/PubMed/10051567" } ] }, { "title": "Gab-family adapter proteins act downstream of cytokine and growth factor receptors and T- and B-cell antigen receptors.", "journal": "Blood", "date": "1999", "authors": "Nishida K, Yoshida Y, Itoh M, Fukada T, Ohtani T, Shirogane T, Atsumi T, Takahashi-Tezuka M, Ishihara K, Hibi M, Hirano T", "evidence": [ { "database": "Reactome", "id": "R-HSA-2730905", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2730905" } ], "reference": [ { "type": "PubMed", "id": "10068651", "url": "https://glygen.org/publication/PubMed/10068651" } ] }, { "title": "Cutting edge: a role for the adaptor protein LAT in human NK cell-mediated cytotoxicity.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1999", "authors": "Jevremovic D, Billadeau DD, Schoon RA, Dick CJ, Irvin BJ, Zhang W, Samelson LE, Abraham RT, Leibson PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2424491", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2424491" } ], "reference": [ { "type": "PubMed", "id": "10072481", "url": "https://glygen.org/publication/PubMed/10072481" } ] }, { "title": "Multisite autophosphorylation of p21-activated protein kinase gamma-PAK as a function of activation.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Gatti A, Huang Z, Tuazon PT, Traugh JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-4420097", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4420097" } ], "reference": [ { "type": "PubMed", "id": "10075701", "url": "https://glygen.org/publication/PubMed/10075701" } ] }, { "title": "Genomic organization of the human galpha14 and Galphaq genes and mutation analysis in chorea-acanthocytosis (CHAC).", "journal": "Genomics", "date": "1999", "authors": "Rubio JP, Levy ER, Dobson-Stone C, Monaco AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "10191087", "url": "https://glygen.org/publication/PubMed/10191087" } ] }, { "title": "Activation of serum- and glucocorticoid-regulated protein kinase by agonists that activate phosphatidylinositide 3-kinase is mediated by 3-phosphoinositide-dependent protein kinase-1 (PDK1) and PDK2.", "journal": "The Biochemical journal", "date": "1999", "authors": "Kobayashi T, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-1257604", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1257604" } ], "reference": [ { "type": "PubMed", "id": "10191262", "url": "https://glygen.org/publication/PubMed/10191262" } ] }, { "title": "A novel SH2-containing phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase (SHIP2) is constitutively tyrosine phosphorylated and associated with src homologous and collagen gene (SHC) in chronic myelogenous leukemia progenitor cells.", "journal": "Blood", "date": "1999", "authors": "Wisniewski D, Strife A, Swendeman S, Erdjument-Bromage H, Geromanos S, Kavanaugh WM, Tempst P, 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tyrosine kinases to the Ras pathway.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Feng GS, Ouyang YB, Hu DP, Shi ZQ, Gentz R, Ni J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1433557", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1433557" } ], "reference": [ { "type": "PubMed", "id": "8647802", "url": "https://glygen.org/publication/PubMed/8647802" } ] }, { "title": "Evidence for a physical association between the Shc-PTB domain and the beta c chain of the granulocyte-macrophage colony-stimulating factor receptor.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Pratt JC, Weiss M, Sieff CA, Shoelson SE, Burakoff SJ, Ravichandran KS", "evidence": [ { "database": "Reactome", "id": "R-HSA-512988", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-512988" } ], "reference": [ { "type": "PubMed", "id": "8647804", "url": "https://glygen.org/publication/PubMed/8647804" } ] }, { "title": "Modulation of 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domain-containing GTPase-activating protein for Rho and Cdc42 associates with focal adhesion kinase.", "journal": "Molecular and cellular biology", "date": "1996", "authors": "Hildebrand JD, Taylor JM, Parsons JT", "evidence": [ { "database": "Reactome", "id": "R-HSA-8980692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8980692" } ], "reference": [ { "type": "PubMed", "id": "8649427", "url": "https://glygen.org/publication/PubMed/8649427" } ] }, { "title": "The two major sites of cbl tyrosine phosphorylation in abl-transformed cells select the crkL SH2 domain.", "journal": "Oncogene", "date": "1996", "authors": "Andoniou CE, Thien CB, Langdon WY", "evidence": [ { "database": "Reactome", "id": "R-HSA-912631", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912631" } ], "reference": [ { "type": "PubMed", "id": "8649859", "url": "https://glygen.org/publication/PubMed/8649859" } ] }, { "title": "Phospholipase C-gamma1 interacts with conserved phosphotyrosyl residues in 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