{ "uniprot_canonical_ac": "P04196-1", "uniprot_ac": "P04196", "uniprot_id": "HRG_HUMAN", "mass": { "chemical_mass": 59578.0, "monoisotopic_mass": 59578.0 }, "refseq": { "ac": "NP_000403", "name": "histidine-rich glycoprotein precursor", "summary": "This histidine-rich glycoprotein contains two cystatin-like domains and is located in plasma and platelets. The physiological function has not been determined but it is known that the protein binds heme, dyes and divalent metal ions. The encoded protein also has a peptide that displays antimicrobial activity against C. albicans, E. coli, S. aureus, P. aeruginosa, and E. faecalis. It can inhibit rosette formation and interacts with heparin, thrombospondin and plasminogen. Two of the protein's effects, the inhibition of fibrinolysis and the reduction of inhibition of coagulation, indicate a potential prothrombotic effect. Mutations in this gene lead to thrombophilia due to abnormal histidine-rich glycoprotein levels. [provided by RefSeq, Nov 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000403" }, "gene_names": [ { "name": "HRG", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P04196", "id": "P04196" }, { "name": "HPRG; HRGP; THPH11", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000403", "id": "NP_000403" }, { "name": "HRG", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000403", "id": "NP_000403" } ], "protein_names": [ { "name": "Histidine-rich glycoprotein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P04196" }, { "name": "HPRG", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04196" }, { "name": "Histidine-proline-rich glycoprotein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04196" }, { "name": "histidine-proline-rich glycoprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000403", "id": "NP_000403" }, { "name": "histidine-rich glycoprotein precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000403", "id": "NP_000403" } ], "function": [ { "annotation": "Comparison of Histidine rich glycoprotein, a novel biomarker for sepsis, with traditional biomarkers in adult ICU patients.", "evidence": [ { "database": "RefSeq", "id": "NP_000403", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000403" }, { "database": "PubMed", "id": "35436053", "url": "https://glygen.org/publication/PubMed/35436053" } ] }, { "annotation": "Effects of HRG and TP73 gene variations on ovarian response.", "evidence": [ { "database": "RefSeq", "id": "NP_000403", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000403" }, { "database": "PubMed", "id": "34494506", "url": "https://glygen.org/publication/PubMed/34494506" } ] }, { "annotation": "Histidine-Rich Glycoprotein Suppresses the S100A8/A9-Mediated Organotropic Metastasis of Melanoma Cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000403", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000403" }, { "database": "PubMed", "id": "36142212", "url": "https://glygen.org/publication/PubMed/36142212" } ] }, { "annotation": "Plasma glycoprotein that binds a number of ligands such as heme, heparin, heparan sulfate, thrombospondin, plasminogen, and divalent metal ions. Binds heparin and heparin/glycosaminoglycans in a zinc-dependent manner. Binds heparan sulfate on the surface of liver, lung, kidney and heart endothelial cells. Binds to N-sulfated polysaccharide chains on the surface of liver endothelial cells. Inhibits rosette formation. Acts as an adapter protein and is implicated in regulating many processes such as immune complex and pathogen clearance, cell chemotaxis, cell adhesion, angiogenesis, coagulation and fibrinolysis. Mediates clearance of necrotic cells through enhancing the phagocytosis of necrotic cells in a heparan sulfate-dependent pathway. This process can be regulated by the presence of certain HRG ligands such as heparin and zinc ions. Binds to IgG subclasses of immunoglobins containing kappa and lambda light chains with different affinities regulating their clearance and inhibiting the formation of insoluble immune complexes. Tethers plasminogen to the cell surface. Binds T-cells and alters the cell morphology. Modulates angiogenesis by blocking the CD6-mediated antiangiongenic effect of thrombospondins, THBS1 and THBS2. Acts as a regulator of the vascular endothelial growth factor (VEGF) signaling pathway; inhibits endothelial cell motility by reducing VEGF-induced complex formation between PXN/paxillin and ILK/integrin-linked protein kinase and by promoting inhibition of VEGF-induced tyrosine phosphorylation of focal adhesion kinases and alpha-actinins in endothelial cells. Also plays a role in the regulation of tumor angiogenesis and tumor immune surveillance. Normalizes tumor vessels and promotes antitumor immunity by polarizing tumor-associated macrophages, leading to decreased tumor growth and metastasis.", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196#function" }, { "database": "PubMed", "id": "12235005", "url": "https://glygen.org/publication/PubMed/12235005" }, { "database": "PubMed", "id": "21304106", "url": "https://glygen.org/publication/PubMed/21304106" }, { "database": "PubMed", "id": "19285951", "url": "https://glygen.org/publication/PubMed/19285951" }, { "database": "PubMed", "id": "21215706", "url": "https://glygen.org/publication/PubMed/21215706" }, { "database": "PubMed", "id": "19535045", "url": "https://glygen.org/publication/PubMed/19535045" }, { "database": "PubMed", "id": "20573803", "url": "https://glygen.org/publication/PubMed/20573803" }, { "database": "PubMed", "id": "14744774", "url": "https://glygen.org/publication/PubMed/14744774" }, { "database": "PubMed", "id": "19712047", "url": "https://glygen.org/publication/PubMed/19712047" }, { "database": "PubMed", "id": "19903770", "url": "https://glygen.org/publication/PubMed/19903770" }, { "database": "PubMed", "id": "11134179", "url": "https://glygen.org/publication/PubMed/11134179" }, { "database": "PubMed", "id": "15220341", "url": "https://glygen.org/publication/PubMed/15220341" }, { "database": "PubMed", "id": "15313924", "url": "https://glygen.org/publication/PubMed/15313924" }, { "database": "PubMed", "id": "16489009", "url": "https://glygen.org/publication/PubMed/16489009" }, { "database": "PubMed", "id": "16436387", "url": "https://glygen.org/publication/PubMed/16436387" } ] }, { "annotation": "The histidine-rich and heparin-binding domain of HRGP mediates the antibacterial activity of the protein", "evidence": [ { "database": "RefSeq", "id": "NP_000403", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000403" }, { "database": "PubMed", "id": "17229145", "url": "https://glygen.org/publication/PubMed/17229145" } ] }, { "annotation": "The protein encoded by this gene has a peptide that displays antimicrobial activity against C. albicans, E. coli, S. aureus, P. aeruginosa, and E. faecalis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000403", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000403" }, { "database": "PubMed", "id": "18797515", "url": "https://glygen.org/publication/PubMed/18797515" } ] }, { "annotation": "This histidine-rich glycoprotein contains two cystatin-like domains and is located in plasma and platelets. The physiological function has not been determined but it is known that the protein binds heme, dyes and divalent metal ions. The encoded protein also has a peptide that displays antimicrobial activity against C. albicans, E. coli, S. aureus, P. aeruginosa, and E. faecalis. It can inhibit rosette formation and interacts with heparin, thrombospondin and plasminogen. Two of the protein's effects, the inhibition of fibrinolysis and the reduction of inhibition of coagulation, indicate a potential prothrombotic effect. Mutations in this gene lead to thrombophilia due to abnormal histidine-rich glycoprotein levels. [provided by RefSeq, Nov 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_000403", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000403" } ] }, { "annotation": "Zn[2+] Differentially Influences the Neutralisation of Heparins by HRG, Fibrinogen, and Fibronectin. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000403", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000403" }, { "database": "PubMed", "id": "38068988", "url": "https://glygen.org/publication/PubMed/38068988" } ] } ], "disease": [ { "disease_id": "DOID:0111903", "recommended_name": { "id": "DOID:0111903", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111903", "name": "thrombophilia due to HRG deficiency", "description": "A thrombophilia characterized by decreased histidine-rich glycoprotein (HRG) plasma levels and a tendency to develop thrombosis that has_material_basis_in heterozygous mutation in HRG on chromosome 3q27.3." }, "synonyms": [ { "id": "DOID:0111903", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111903", "name": "THPH11", "description": "" }, { "id": "DOID:0111903", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111903", "name": "hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency", "description": "" }, { "id": "DOID:0111903", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111903", "name": "hereditary thrombophilia due to congenital HRG deficiency", "description": "" }, { "id": "MONDO:0013143", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013143", "name": "hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency", "description": "" }, { "id": "MONDO:0013143", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013143", "name": "hereditary thrombophilia due to congenital HRG deficiency", "description": "" }, { "id": "MONDO:0013143", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013143", "name": "thrombophilia 11 due to HRG deficiency", "description": "" }, { "id": "MONDO:0013143", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013143", "name": "THPH11", "description": "" }, { "id": "MONDO:0013143", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013143", "name": "thrombophilia due to elevated histidine-rich glycoprotein", "description": "" }, { "id": "MONDO:0013143", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013143", "name": "thrombophilia due to histidine-rich glycoprotein deficiency", "description": "" }, { "id": "MIM:613116", "resource": "MIM", "url": "https://www.omim.org/entry/613116", "name": "Thrombophilia due to histidine-rich glycoprotein deficiency", "description": "Thrombophilia due to histidine-rich glycoprotein deficiency" } ], "evidence": [ { "id": "613116", "database": "MIM", "url": "https://www.omim.org/entry/613116" } ] } ], "snv": [ { "evidence": [ { "id": "rs1162504480", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1162504480" }, { "id": "rs1162504480", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1162504480#frequency_tab" }, { "id": "rs1162504480", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1162504480" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 161, "end_pos": 161, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKA->NKT).", "chr_id": "3", "chr_pos": "186671712", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A161", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P04196", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04196" }, { "id": "rs9898", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs9898" }, { "id": "rs9898", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs9898" }, { "id": "rs9898", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs9898" }, { "id": "rs9898", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs9898#frequency_tab" }, { "id": "rs9898", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs9898" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 204, "end_pos": 204, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NCP->NCS).", "chr_id": "3", "chr_pos": "186672838", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P204", "disease": [ { "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": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "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 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"url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs9898", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs9898" }, { "id": "rs9898", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs9898" }, { "id": "rs9898", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs9898" }, { "id": "rs9898", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs9898#frequency_tab" }, { "id": "rs9898", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs9898" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 204, "end_pos": 204, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NCP->NCT).", "chr_id": "3", "chr_pos": "186672838", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.4914", "site_lbl": "P204", "keywords": [ 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"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": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P04196", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04196" } ], "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": 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"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": "P04196", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04196" } ], "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 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", "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P04196", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04196" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P04196", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04196" } ], "disease": [ { "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": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P04196", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04196" } ], "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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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04196" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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peptide.", "journal": "Nature structural biology", "date": "1999", "authors": "Rety S, Sopkova J, Renouard M, Osterloh D, Gerke V, Tabaries S, Russo-Marie F, Lewit-Bentley A", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "9886297", "url": "https://glygen.org/publication/PubMed/9886297" } ] } ], "pathway": [ { "id": "hsa:3273", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3273", "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-75205", "name": "Dissolution of Fibrin Clot", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205", "resource": "Reactome", "description": "Dissolution of Fibrin Clot" } ], "orthologs": [ { "uniprot_canonical_ac": 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"" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "antimicrobial humoral immune response mediated by antimicrobial peptide", "id": "GO:0061844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061844", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "platelet activation", "id": "GO:0030168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030168", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "negative regulation of cell adhesion mediated by integrin", "id": "GO:0033629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033629", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "fibrinolysis", "id": "GO:0042730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042730", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050730", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "negative regulation of fibrinolysis", "id": "GO:0051918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051918", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "negative regulation of blood vessel endothelial cell migration", "id": "GO:0043537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043537", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "positive regulation of focal adhesion assembly", "id": "GO:0051894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051894", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "heme transport", "id": "GO:0015886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015886", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "negative regulation of vascular endothelial growth factor signaling pathway", "id": "GO:1900747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900747", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "regulation of protein-containing complex assembly", "id": "GO:0043254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043254", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "regulation of blood coagulation", "id": "GO:0030193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030193", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "cytolysis by host of symbiont cells", "id": "GO:0051838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051838", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "defense response to fungus", "id": "GO:0050832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050832", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "positive regulation of immune response to tumor cell", "id": "GO:0002839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002839", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "negative regulation of lamellipodium assembly", "id": "GO:0010593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010593", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell chemotaxis", "id": "GO:2001027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001027", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 9, "go_terms": [ { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "heparan sulfate proteoglycan binding", "id": "GO:0043395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043395", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase inhibitor activity", "id": "GO:0004869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004869", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "immunoglobulin binding", "id": "GO:0019865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019865", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 8, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "platelet alpha granule lumen", "id": "GO:0031093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031093", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "blood microparticle", "id": "GO:0072562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072562", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "collagen-containing extracellular matrix", "id": "GO:0062023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" }, { "name": "endolysosome", "id": "GO:0036019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036019", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "histidine-rich glycoprotein N-glycosylated 1 (human)", "definition": "A histidine-rich glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-125 of the amino acid sequence represented by UniProtKB:P04196-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P04196-1, Asn-125, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053317", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053317" } ] }, { "name": "histidine-rich glycoprotein N-glycosylated 2 (human)", "definition": "A histidine-rich glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-125 of the amino acid sequence represented by UniProtKB:P04196-1, in which the glycan composition is represented by GlyTouCan:G01650EU. Example: UniProtKB:P04196-1, Asn-125, MOD:00160~GNO:G01650EU. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053318", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053318" } ] }, { "name": "histidine-rich glycoprotein N-glycosylated 3 (human)", "definition": "A histidine-rich glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-125 of the amino acid sequence represented by UniProtKB:P04196-1, in which the glycan composition is represented by GlyTouCan:G08293MJ. Example: UniProtKB:P04196-1, Asn-125, MOD:00160~GNO:G08293MJ. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053319", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053319" } ] }, { "name": "histidine-rich glycoprotein N-glycosylated 4 (human)", "definition": "A histidine-rich glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-125 of the amino acid sequence represented by UniProtKB:P04196-1, in which the glycan composition is represented by GlyTouCan:G10486CT. Example: UniProtKB:P04196-1, Asn-125, MOD:00160~GNO:G10486CT. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053320", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053320" } ] }, { "name": "histidine-rich glycoprotein N-glycosylated 5 (human)", "definition": "A histidine-rich glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-125 of the amino acid sequence represented by UniProtKB:P04196-1, in which the glycan composition is represented by GlyTouCan:G37399XV. Example: UniProtKB:P04196-1, Asn-125, MOD:00160~GNO:G37399XV. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053321", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053321" } ] }, { "name": "histidine-rich glycoprotein N-glycosylated 6 (human)", "definition": "A histidine-rich glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-125 of the amino acid sequence represented by UniProtKB:P04196-1, in which the glycan structure is represented by GlyTouCan:G42358LZ. Example: UniProtKB:P04196-1, Asn-125, MOD:00160~GNO:G42358LZ. [PRO:DNx, PMID:24279413]", "evidence": [ { "id": "PR:000053322", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053322" } ] }, { "name": "histidine-rich glycoprotein N-glycosylated 7 (human)", "definition": "A histidine-rich glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-125 of the amino acid sequence represented by UniProtKB:P04196-1, in which the glycan composition is represented by GlyTouCan:G59626AS. Example: UniProtKB:P04196-1, Asn-125, MOD:00160~GNO:G59626AS. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053323", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053323" } ] }, { "name": "histidine-rich glycoprotein O-glycosylated 1 (human)", "definition": "A histidine-rich glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-271 of the amino acid sequence represented by UniProtKB:P04196-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P04196-1, Ser-271, MOD:00002~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053324", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053324" } ] }, { "name": "histidine-rich glycoprotein O-glycosylated 2 (human)", "definition": "A histidine-rich glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-271 of the amino acid sequence represented by UniProtKB:P04196-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P04196-1, Ser-271, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053325", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053325" } ] }, { "name": "histidine-rich glycoprotein O-glycosylated 3 (human)", "definition": "A histidine-rich glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-271 of the amino acid sequence represented by UniProtKB:P04196-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P04196-1, Ser-271, MOD:00002~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053326", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053326" } ] }, { "name": "histidine-rich glycoprotein O-glycosylated 4 (human)", "definition": "A histidine-rich glycoprotein (human) that has been O-glycosylated at the residue equivalent to Thr-273 of the amino acid sequence represented by UniProtKB:P04196-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P04196-1, Thr-273, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053327", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053327" } ] }, { "name": "histidine-rich glycoprotein O-glycosylated 5 (human)", "definition": "A histidine-rich glycoprotein (human) that has been O-glycosylated at the residue equivalent to Thr-274 of the amino acid sequence represented by UniProtKB:P04196-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P04196-1, Thr-274, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053328", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053328" } ] } ], "site_annotation": [ { "start_pos": 125, "end_pos": 127, "annotation": "n_glycosylation_sequon" }, { "start_pos": 344, "end_pos": 346, "annotation": "n_glycosylation_sequon" }, { "start_pos": 345, "end_pos": 347, "annotation": "n_glycosylation_sequon" }, { "start_pos": 63, "end_pos": 65, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "N-glycosylated.", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" }, { "database": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" }, { "database": "PubMed", "id": "19285951", "url": "https://glygen.org/publication/PubMed/19285951" }, { "database": "PubMed", "id": "16335952", "url": "https://glygen.org/publication/PubMed/16335952" } ] }, { "annotation": "Proteolytic cleavage produces several HRG fragments which are mostly disulfide-linked and, therefore, not released. Cleavage by plasmin is inhibited in the presence of heparin, zinc ions or in an acidic environment. Cleavage reduces binding of HRG to heparan sulfate, but enhances the ability of HRG to bind and tether plasminogen to the cell surface. On platelet activation, releases a 33 kDa antiangiogenic peptide which encompasses the HRR. Also cleaved in the C-terminal by plasmin.", "evidence": [ { "database": "UniProtKB", "id": "P04196", "url": "https://www.uniprot.org/uniprot/P04196" }, { "database": "PubMed", "id": "14744774", "url": "https://glygen.org/publication/PubMed/14744774" }, { "database": "PubMed", "id": "19712047", "url": "https://glygen.org/publication/PubMed/19712047" }, { "database": "PubMed", "id": "19903770", "url": "https://glygen.org/publication/PubMed/19903770" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 63, 125, 344, 345 ], "o_linked_sites": [ 271, 273, 274 ], "snv_sites": [ 65, 77, 161, 204, 253, 294, 305, 337, 346, 347, 374, 448 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 125, "end_pos": 127 }, { "start_pos": 344, "end_pos": 346 }, { "start_pos": 345, "end_pos": 347 }, { "start_pos": 63, "end_pos": 65 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 69 }, { "field": "total_sites", "count": 8 }, { "field": "n_linked_glycans", "count": 44 }, { "field": "n_linked_glycan_sites", "count": 8 }, { "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": 4 }, { "field": "total_sites", "count": 4 }, { "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": 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_reported_with_glycan", "table_stats": [ { "field": "total", "count": 65 }, { "field": "total_sites", "count": 8 }, { "field": "n_linked_glycans", "count": 44 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "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_predicted", "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": "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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 17 }, { "field": "total_sites", "count": 12 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 8 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 71 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }