{ "uniprot_canonical_ac": "P02675-1", "uniprot_ac": "P02675", "uniprot_id": "FIBB_HUMAN", "mass": { "chemical_mass": 55928.0, "monoisotopic_mass": 55928.0 }, "refseq": { "ac": "NP_001171670", "name": "fibrinogen beta chain isoform 2 preproprotein", "summary": "The protein encoded by this gene is the beta component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Fibrinogen serves key roles in hemostasis and antimicrobial host defense. Mutations in this gene lead to several disorders, including afibrinogenemia, dysfibrinogenemia, hypodysfibrinogenemia and thrombotic tendency. [provided by RefSeq, Aug 2020].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171670" }, "gene_names": [ { "name": "FGB", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P02675", "id": "P02675" }, { "name": "FGB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171670", "id": "NP_001171670" }, { "name": "HEL-S-78p", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171670", "id": "NP_001171670" } ], "protein_names": [ { "name": "Fibrinogen beta chain", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P02675" }, { "name": "fibrinogen beta chain isoform 2 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171670", "id": "NP_001171670" }, { "name": "fibrinogen, B beta polypeptide; epididymis secretory sperm binding protein Li 78p; beta-fibrinogen", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171670", "id": "NP_001171670" } ], "function": [ { "annotation": "A Novel Fibrinogen Mutation p.BbetaAla68Asp Causes an Inherited Dysfibrinogenemia. Erratum:[Hamostaseologie. 2023 Dec;43(6):e1. PMID: 38096836]", "evidence": [ { "database": "RefSeq", "id": "NP_001171670", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171670" }, { "database": "PubMed", "id": "37516116", "url": "https://glygen.org/publication/PubMed/37516116" } ] }, { "annotation": "Association between fibrinogen level and length of stay in patients with lower extremity atherosclerotic disease: a retrospective cohort study. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001171670", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171670" }, { "database": "PubMed", "id": "37481624", "url": "https://glygen.org/publication/PubMed/37481624" } ] }, { "annotation": "Association between lipoprotein(a) and ischemic stroke: Fibrinogen as a mediator.", "evidence": [ { "database": "RefSeq", "id": "NP_001171670", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171670" }, { "database": "PubMed", "id": "37517272", "url": "https://glygen.org/publication/PubMed/37517272" } ] }, { "annotation": "Cleaved by the protease thrombin to yield monomers which, together with fibrinogen alpha (FGA) and fibrinogen gamma (FGG), polymerize to form an insoluble fibrin matrix. Fibrin has a major function in hemostasis as one of the primary components of blood clots. In addition, functions during the early stages of wound repair to stabilize the lesion and guide cell migration during re-epithelialization. Was originally thought to be essential for platelet aggregation, based on in vitro studies using anticoagulated blood. However subsequent studies have shown that it is not absolutely required for thrombus formation in vivo. Enhances expression of SELP in activated platelets. Maternal fibrinogen is essential for successful pregnancy. Fibrin deposition is also associated with infection, where it protects against IFNG-mediated hemorrhage. May also facilitate the antibacterial immune response via both innate and T-cell mediated pathways.", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675#function" }, { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprot/E9PV24#function" } ] }, { "annotation": "The protein encoded by this gene is the beta component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Fibrinogen serves key roles in hemostasis and antimicrobial host defense. Mutations in this gene lead to several disorders, including afibrinogenemia, dysfibrinogenemia, hypodysfibrinogenemia and thrombotic tendency. [provided by RefSeq, Aug 2020].", "evidence": [ { "database": "RefSeq", "id": "NP_001171670", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171670" } ] }, { "annotation": "[Genetic analysis of a Chinese pedigree affected with Congenital dysfibrinogenemia due to variant of FGG gene].", "evidence": [ { "database": "RefSeq", "id": "NP_001171670", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171670" }, { "database": "PubMed", "id": "37906135", "url": "https://glygen.org/publication/PubMed/37906135" } ] } ], "disease": [ { "disease_id": "DOID:2236", "recommended_name": { "id": "DOID:2236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2236", "name": "congenital afibrinogenemia", "description": "A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I)." }, "synonyms": [ { "id": "DOID:2236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2236", "name": "Factor I deficiency", "description": "" }, { "id": "DOID:2236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2236", "name": "Fibrinogen deficiency", "description": "" }, { "id": "MONDO:0008737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008737", "name": "congenital afibrinogenemia", "description": "Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen." }, { "id": "MONDO:0008737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008737", "name": "fibrinogen deficiency", "description": "" }, { "id": "MONDO:0008737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008737", "name": "factor I deficiency", "description": "" }, { "id": "MONDO:0008737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008737", "name": "afibrinogenemia", "description": "" }, { "id": "MONDO:0008737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008737", "name": "afibrinogenemia congenital", "description": "" }, { "id": "MONDO:0008737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008737", "name": "afibrinogenemia, congenital", "description": "" }, { "id": "MONDO:0008737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008737", "name": "familial afibrinogenemia", "description": "" }, { "id": "MONDO:0008737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008737", "name": "hypofibrinogenemia, congenital", "description": "" }, { "id": "MIM:202400", "resource": "MIM", "url": "https://www.omim.org/entry/202400", "name": "Congenital afibrinogenemia", "description": "Congenital afibrinogenemia" } ], "evidence": [ { "id": "202400", "database": "MIM", "url": "https://www.omim.org/entry/202400" } ] }, { "disease_id": "MONDO:0014452", "recommended_name": { "id": "MONDO:0014452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014452", "name": "familial dysfibrinogenemia", "description": "Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen." }, "synonyms": [ { "id": "MONDO:0014452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014452", "name": "dysfibrinogenemia", "description": "" }, { "id": "MONDO:0014452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014452", "name": "familial dysfibrinogenemia", "description": "" }, { "id": "MONDO:0014452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014452", "name": "hypodysfibrinogenemia", "description": "" }, { "id": "MONDO:0014452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014452", "name": "congenital dysfibrinogenemia", "description": "" }, { "id": "MONDO:0014452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014452", "name": "dysfibrinogenemia, congenital", "description": "" }, { "id": "MONDO:0014452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014452", "name": "dysfibrinogenemia, familial", "description": "" }, { "id": "MONDO:0014452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014452", "name": "hypodysfibrinogenemia, congenital", "description": "" }, { "id": "MIM:616004", "resource": "MIM", "url": "https://www.omim.org/entry/616004", "name": "Dysfibrinogenemia, congenital", "description": "Dysfibrinogenemia, congenital" } ], "evidence": [ { "id": "616004", "database": "MIM", "url": "https://www.omim.org/entry/616004" } ] } ], "snv": [ { "evidence": [ { "id": "rs1222826621", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1222826621" }, { "id": "rs1222826621", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1222826621#frequency_tab" }, { "id": "rs1222826621", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1222826621" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 108, "end_pos": 108, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "4", "chr_pos": "154566505", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T108", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs867633933", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867633933" }, { "id": "rs867633933", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs867633933" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 140, "end_pos": 140, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TSS->NSS).", "chr_id": "4", "chr_pos": "154566601", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T140", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1450610632", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1450610632" }, { "id": "rs1450610632", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1450610632#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 206, "end_pos": 206, "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLR->NLT).", "chr_id": "4", "chr_pos": "154567719", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R206", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750761651", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750761651" }, { "id": "rs750761651", "database": 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"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": 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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"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": "P02675", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02675" } ], "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": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "P02675", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02675" } ], "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": "P02675", "url": 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"MRHLWLLLLSVSLVQTQAATTDSDKVDLSIARGHRPVDRRKEEPPSLRPAPPPISGGGYRARPAKVDAGQKKVERKPPDAGGCVHGDGDMGVLCPTGCELRQTLLNHERPIKNSIAELNSNINSVSETSSVTFQYLTLLKDMWKKKQAQVKDNENVINEYSSILEDQKLYIDETVNDNIPLNLRVLRSILEDLRSKIQKLESDISAQTEYCHTPCTVNCNIPVVSGKECEEIIRKGGETSEMYLIQPDTSSKPYRVYCDMKTENGGWTVIQNRQDGSVDFGRKWDPYKKGFGNIATNEDTKKYCGLPGEYWLGNDKISQLTRIGPTELLIEMEDWKGDKVKAHYGGFTVQTEANKYQVSVNKYKGTAGNALMEGASQLVGENRTMTIHNGMFFSTYDRDNDGWVTTDPRKQCSKEDGGGWWYNRCHAANPNGRYYWGGLYSWDMSKHGTDDGVVWMNWKGSWYSMRRMSMKIRPVFPQQ", "length": 479 }, "evidence": [ { "id": "45924374", "url": "http://www.informatics.jax.org/homology/45924374", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8K0E8-1", "protein_name": "Fibrinogen beta chain", "gene_name": "Fgb", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MRHLWLLLLLCVFSVQTQAADDDYDEPTDSLDARGHRPVDRRKEEPPSLRPAPPPISGGGYRARPAKATANQKKVERRPPDAGGCLHADTDMGVLCPTGCTLQQTLLNQERPIKSSIAELNNNIQSVSDTSSVTFQYLTLLKDMWKKKQAQVKENENVINEYSSILEDQRLYIDETVNDNIPLNLRVLRSILEDLRSKIQKLESDISAQMEYCRTPCTVSCNIPVVSGKECEEIIRKGGETSEMYLIQPDTSIKPYRVYCDMKTENGGWTVIQNRQDGSVDFGRKWDPYKKGFGNIATNEDAKKYCGLPGEYWLGNDKISQLTRMGPTELLIEMEDWKGDKVKAHYGGFTVQNEASKYQVSVNKYKGTAGNALMDGASQLVGENRTMTIHNGMFFSTYDRDNDGWVTTDPRKQCSKEDGGGWWYNRCHAANPNGRYYWGGLYSWDMSKHGTDDGVVWMNWKGSWYSMRRMSMKIRPFFPQQ", "length": 481 }, "evidence": [ { "id": "45924374", "url": "http://www.informatics.jax.org/homology/45924374", "database": "MGI" }, { "id": "P02675", "url": "https://omabrowser.org/oma/group/P02675/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "extracellular matrix structural constituent", "id": "GO:0005201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005201", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 15, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "platelet alpha granule lumen", "id": "GO:0031093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031093", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "blood microparticle", "id": "GO:0072562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072562", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "fibrinogen complex", "id": "GO:0005577", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005577", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "extracellular vesicle", "id": "GO:1903561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903561", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "platelet alpha granule", "id": "GO:0031091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031091", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "collagen-containing extracellular matrix", "id": "GO:0062023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 23, "go_terms": [ { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "response to calcium ion", "id": "GO:0051592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051592", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "fibrinolysis", "id": "GO:0042730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042730", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "positive regulation of vasoconstriction", "id": "GO:0045907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045907", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "positive regulation of substrate adhesion-dependent cell spreading", "id": "GO:1900026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900026", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell apoptotic process", "id": "GO:2000352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000352", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "platelet aggregation", "id": "GO:0070527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070527", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "plasminogen activation", "id": "GO:0031639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031639", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway via death domain receptors", "id": "GO:1902042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902042", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "cellular response to interleukin-1", "id": "GO:0071347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071347", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "protein polymerization", "id": "GO:0051258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051258", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "positive regulation of peptide hormone secretion", "id": "GO:0090277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090277", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "induction of bacterial agglutination", "id": "GO:0043152", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043152", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "positive regulation of heterotypic cell-cell adhesion", "id": "GO:0034116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034116", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "positive regulation of exocytosis", "id": "GO:0045921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045921", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "cellular response to leptin stimulus", "id": "GO:0044320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044320", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "blood coagulation, fibrin clot formation", "id": "GO:0072378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072378", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" }, { "name": "blood coagulation", "id": "GO:0007596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "fibrinogen beta chain N-glycosylated 1 (human)", "definition": "A fibrinogen beta chain (human) that has been N-glycosylated at the residue equivalent to Asn-394 of the amino acid sequence represented by UniProtKB:P02675-1, in which the glycan composition is represented by GlyTouCan:G08293MJ. Example: UniProtKB:P02675-1, Asn-394, MOD:00160~GNO:G08293MJ. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000052532", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052532" } ] }, { "name": "fibrinogen beta chain N-glycosylated 2 (human)", "definition": "A fibrinogen beta chain (human) that has been N-glycosylated at the residue equivalent to Asn-394 of the amino acid sequence represented by UniProtKB:P02675-1, in which the glycan structure is represented by GlyTouCan:G36191CD. Example: UniProtKB:P02675-1, Asn-394, MOD:00160~GNO:G36191CD. [PRO:DNx, PMID:7107587]", "evidence": [ { "id": "PR:000052533", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052533" } ] }, { "name": "fibrinogen beta chain N-glycosylated 3 (human)", "definition": "A fibrinogen beta chain (human) that has been N-glycosylated at the residue equivalent to Asn-394 of the amino acid sequence represented by UniProtKB:P02675-1, in which the glycan composition is represented by GlyTouCan:G37399XV. Example: UniProtKB:P02675-1, Asn-394, MOD:00160~GNO:G37399XV. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000052534", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052534" } ] }, { "name": "fibrinogen beta chain N-glycosylated 4 (human)", "definition": "A fibrinogen beta chain (human) that has been N-glycosylated at the residue equivalent to Asn-394 of the amino acid sequence represented by UniProtKB:P02675-1, in which the glycan composition is represented by GlyTouCan:G59626AS. Example: UniProtKB:P02675-1, Asn-394, MOD:00160~GNO:G59626AS. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000052535", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052535" } ] }, { "name": "fibrinogen beta chain N-glycosylated 5 (human)", "definition": "A fibrinogen beta chain (human) that has been N-glycosylated at the residue equivalent to Asn-394 of the amino acid sequence represented by UniProtKB:P02675-1, in which the glycan structure is represented by GlyTouCan:G75850OP. Example: UniProtKB:P02675-1, Asn-394, MOD:00160~GNO:G75850OP. [PRO:DNx, PMID:7107587]", "evidence": [ { "id": "PR:000052536", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052536" } ] }, { "name": "fibrinogen beta chain N-glycosylated 6 (human)", "definition": "A fibrinogen beta chain (human) that has been N-glycosylated at the residue equivalent to Asn-394 of the amino acid sequence represented by UniProtKB:P02675-1, in which the glycan structure is represented by GlyTouCan:G84467IZ. Example: UniProtKB:P02675-1, Asn-394, MOD:00160~GNO:G84467IZ. [PRO:DNx, PMID:7107587]", "evidence": [ { "id": "PR:000052537", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052537" } ] }, { "name": "fibrinogen beta chain N-glycosylated 7 (human)", "definition": "A fibrinogen beta chain (human) that has been N-glycosylated at the residue equivalent to Asn-394 of the amino acid sequence represented by UniProtKB:P02675-1, in which the glycan structure is represented by GlyTouCan:G91365ZQ. Example: UniProtKB:P02675-1, Asn-394, MOD:00160~GNO:G91365ZQ. [PRO:DNx, PMID:7107587]", "evidence": [ { "id": "PR:000052538", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052538" } ] }, { "name": "fibrinogen beta chain O-glycosylated 1 (human)", "definition": "A fibrinogen beta chain (human) that has been O-glycosylated at the residue equivalent to Ser-58 of the amino acid sequence represented by UniProtKB:P02675-1, in which the glycan composition is represented by GlyTouCan:G17015OC. Example: UniProtKB:P02675-1, Ser-58, MOD:00002~GNO:G17015OC. [PRO:DNx, PMID:26598643, PMID:30459171]", "evidence": [ { "id": "PR:000052539", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052539" } ] }, { "name": "fibrinogen beta chain O-glycosylated 2 (human)", "definition": "A fibrinogen beta chain (human) that has been O-glycosylated at the residue equivalent to Ser-58 of the amino acid sequence represented by UniProtKB:P02675-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02675-1, Ser-58, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:26598643, PMID:30459171]", "evidence": [ { "id": "PR:000052540", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052540" } ] }, { "name": "fibrinogen beta chain O-glycosylated 3 (human)", "definition": "A fibrinogen beta chain (human) that has been O-glycosylated at the residue equivalent to Thr-108 of the amino acid sequence represented by UniProtKB:P02675-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02675-1, Thr-108, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000052541", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052541" } ] } ], "site_annotation": [ { "start_pos": 394, "end_pos": 396, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Conversion of fibrinogen to fibrin is triggered by thrombin, which cleaves fibrinopeptides A and B from alpha and beta chains, and thus exposes the N-terminal polymerization sites responsible for the formation of the soft clot. The soft clot is converted into the hard clot by factor XIIIA which catalyzes the epsilon-(gamma-glutamyl)lysine cross-linking between gamma chains (stronger) and between alpha chains (weaker) of different monomers.", "evidence": [ { "database": "UniProtKB", "id": "P02675", "url": "https://www.uniprot.org/uniprot/P02675" }, { "database": "PubMed", "id": "2143188", "url": "https://glygen.org/publication/PubMed/2143188" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 314, 394, 435 ], "o_linked_sites": [ 58, 108, 360 ], "snv_sites": [ 58, 108, 140, 206, 234, 308, 328, 360, 365, 414, 471 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 394, "end_pos": 396 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 57 }, { "field": "total_sites", "count": 7 }, { "field": "n_linked_glycans", "count": 42 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "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": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "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": 54 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 42 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "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": 12 }, { "field": "total_sites", "count": 11 } ], "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": 3 }, { "field": "total_sites", "count": 3 } ], "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": 9 }, { "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": 340 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }