{ "uniprot_canonical_ac": "P08697-1", "uniprot_ac": "P08697", "uniprot_id": "A2AP_HUMAN", "mass": { "chemical_mass": 54566.0, "monoisotopic_mass": 54566.0 }, "refseq": { "ac": "NP_000925", "name": "alpha-2-antiplasmin isoform a precursor", "summary": "This gene encodes a member of the serpin family of serine protease inhibitors. The protein is a major inhibitor of plasmin, which degrades fibrin and various other proteins. Consequently, the proper function of this gene has a major role in regulating the blood clotting pathway. Mutations in this gene result in alpha-2-plasmin inhibitor deficiency, which is characterized by severe hemorrhagic diathesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000925" }, "gene_names": [ { "name": "SERPINF2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P08697", "id": "P08697" }, { "name": "A2AP; AAP; ALPHA-2-PI; alpha2AP; API; PLI", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000925", "id": "NP_000925" }, { "name": "AAP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08697", "id": "P08697" }, { "name": "PLI", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08697", "id": "P08697" }, { "name": "SERPINF2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000925", "id": "NP_000925" } ], "protein_names": [ { "name": "Alpha-2-antiplasmin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P08697" }, { "name": "Alpha-2-AP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08697" }, { "name": "Alpha-2-PI", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08697" }, { "name": "Alpha-2-plasmin inhibitor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08697" }, { "name": "Serpin F2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08697" }, { "name": "alpha-2-antiplasmin isoform a precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000925", "id": "NP_000925" }, { "name": "alpha-2-plasmin inhibitor; serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2; serpin F2; alpha-2-AP; serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000925", "id": "NP_000925" } ], "function": [ { "annotation": "Decrease in matrix metalloproteinase3 activity in systemic sclerosis fibroblasts causes alpha2antiplasmin and extracellular matrix deposition, and contributes to fibrosis development.", "evidence": [ { "database": "RefSeq", "id": "NP_000925", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000925" }, { "database": "PubMed", "id": "32945390", "url": "https://glygen.org/publication/PubMed/32945390" } ] }, { "annotation": "Fibrinogen and Antifibrinolytic Proteins: Interactions and Future Therapeutics. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000925", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000925" }, { "database": "PubMed", "id": "34830419", "url": "https://glygen.org/publication/PubMed/34830419" } ] }, { "annotation": "Human alpha2-antiplasmin is glycated and acetylated at several sites, with the possible competition between acetylation and glycation at K-182 and K-448; finding suggests possibly relevant alterations to alpha2-antiplasmin function at high glycemia and during aspirin use", "evidence": [ { "database": "RefSeq", "id": "NP_000925", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000925" }, { "database": "PubMed", "id": "31653347", "url": "https://glygen.org/publication/PubMed/31653347" } ] }, { "annotation": "Interaction of glycated and acetylated human alpha2-antiplasmin with fibrin clots.", "evidence": [ { "database": "RefSeq", "id": "NP_000925", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000925" }, { "database": "PubMed", "id": "32815915", "url": "https://glygen.org/publication/PubMed/32815915" } ] }, { "annotation": "Serine protease inhibitor. The major targets of this inhibitor are plasmin and trypsin, but it also inactivates matriptase-3/TMPRSS7 and chymotrypsin.", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697#function" }, { "database": "PubMed", "id": "15853774", "url": "https://glygen.org/publication/PubMed/15853774" } ] }, { "annotation": "This gene encodes a member of the serpin family of serine protease inhibitors. The protein is a major inhibitor of plasmin, which degrades fibrin and various other proteins. Consequently, the proper function of this gene has a major role in regulating the blood clotting pathway. Mutations in this gene result in alpha-2-plasmin inhibitor deficiency, which is characterized by severe hemorrhagic diathesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_000925", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000925" } ] } ], "disease": [ { "disease_id": "DOID:0060601", "recommended_name": { "id": "DOID:0060601", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060601", "name": "alpha-2-plasmin inhibitor deficiency", "description": "A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes." }, "synonyms": [ { "id": "DOID:0060601", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060601", "name": "antiplasmin defiency", "description": "" }, { "id": "DOID:0060601", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060601", "name": "plasmin inhibitor deficiency", "description": "" }, { "id": "MONDO:0009883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009883", "name": "alpha-2-plasmin inhibitor deficiency", "description": "Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner." }, { "id": "MONDO:0009883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009883", "name": "alpha-2-plasmin inhibitor deficiency", "description": "" }, { "id": "MONDO:0009883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009883", "name": "antiplasmin defiency", "description": "" }, { "id": "MONDO:0009883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009883", "name": "plasmin inhibitor deficiency", "description": "" }, { "id": "MONDO:0009883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009883", "name": "anti-plasmin deficiency, congenital", "description": "" }, { "id": "MONDO:0009883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009883", "name": "antiplasmin deficiency", "description": "" }, { "id": "MONDO:0009883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009883", "name": "antiplasmin deficiency, congenital", "description": "" }, { "id": "MONDO:0009883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009883", "name": "congenital alpha2-antiplasmin deficiency", "description": "" }, { "id": "MIM:262850", "resource": "MIM", "url": "https://www.omim.org/entry/262850", "name": "Alpha-2-plasmin inhibitor deficiency", "description": "Alpha-2-plasmin inhibitor deficiency" } ], "evidence": [ { "id": "262850", "database": "MIM", "url": "https://www.omim.org/entry/262850" } ] } ], "snv": [ { "evidence": [ { "id": "rs1209936304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1209936304" }, { "id": "rs1209936304", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1209936304#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 126, "end_pos": 126, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NHT->KHT).", "chr_id": "17", "chr_pos": "1747029", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N126", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750224019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750224019" }, { "id": "rs750224019", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750224019" }, { "id": "rs750224019", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750224019" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 128, "end_pos": 128, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NHT->NHM).", "chr_id": "17", "chr_pos": "1747034", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T128", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P08697", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08697" }, { "id": "rs752567596", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752567596" }, { "id": "rs752567596", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752567596" }, { "id": "rs752567596", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752567596" }, { "id": "rs752567596", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752567596" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 192, "end_pos": 192, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (SLT->NLT).", "chr_id": "17", "chr_pos": "1747372", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S192", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs766973035", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766973035" }, { "id": "rs766973035", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766973035" }, { "id": "rs766973035", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766973035#frequency_tab" }, { "id": "rs766973035", "database": "gnomAD", "url": 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"start_pos": 397, "end_pos": 397, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "17", "chr_pos": "1754247", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T397", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P08697", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08697" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 414, "end_pos": 414, "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 (NRP->NRS).", "chr_id": "17", "chr_pos": "1754298", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P414", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": 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"malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic 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"https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", 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}, { "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 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "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", 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"description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ] 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"database": "Bgee", "id": "ENSG00000167711", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167711" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "67.4", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167711", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167711" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "73.82", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167711", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167711" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000167711", "url": 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"significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P08697", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08697" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": 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"https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 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"https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P08697", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08697" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", 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"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 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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}, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P08697", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08697" } ], "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://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "common_name": "Human" } ], "gene": [ { "name": "SERPINF2", "url": "https://www.uniprot.org/uniprot/P08697", "locus": { "chromosome": "17", "start_pos": 17430, "end_pos": 5001, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "LRG_885", "url": "https://www.ensembl.org/id/LRG_885" } ] } } ], "crossref": [ { "id": "ENSG00000167711", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167711", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P08697", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08697", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd02053", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd02053", "database": "CDD", "categories": [ "Protein 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"InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023796", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023796", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR033833", "url": "https://www.ebi.ac.uk/interpro/entry/IPR033833", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036186", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036186", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR042178", "url": "https://www.ebi.ac.uk/interpro/entry/IPR042178", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR042185", "url": "https://www.ebi.ac.uk/interpro/entry/IPR042185", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:5345", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5345", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "262850", "url": "http://www.omim.org/entry/262850", "database": "MIM", "categories": [ "Other" ] }, { "id": "613168", "url": "http://www.omim.org/entry/613168", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P08697", "url": "https://www.nextprot.org/entry/NX_P08697", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "HAYPLRW", "url": "https://omabrowser.org/oma/group/HAYPLRW/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3218836at2759", "url": "http://www.orthodb.org/?query=3218836at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11461", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11461", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11461:SF20", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11461:SF20", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00079", "url": "http://pfam.xfam.org/family/PF00079", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P08697", "url": "https://pharos.nih.gov/targets/P08697", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000054553", "url": "https://proconsortium.org/app/entry/PR:000054553", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054554", "url": "https://proconsortium.org/app/entry/PR:000054554", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054555", "url": "https://proconsortium.org/app/entry/PR:000054555", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054556", "url": "https://proconsortium.org/app/entry/PR:000054556", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054557", "url": "https://proconsortium.org/app/entry/PR:000054557", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054558", "url": "https://proconsortium.org/app/entry/PR:000054558", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054559", "url": "https://proconsortium.org/app/entry/PR:000054559", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054560", "url": "https://proconsortium.org/app/entry/PR:000054560", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054561", "url": "https://proconsortium.org/app/entry/PR:000054561", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054562", "url": "https://proconsortium.org/app/entry/PR:000054562", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_P08697", "url": "http://purl.obolibrary.org/obo/PR_P08697", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000925", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000925", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P08697", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A0A0G2JPA8", "url": "https://www.uniprot.org/uniprot/A0A0G2JPA8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JPA8-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JPA8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YWQ3", "url": "https://www.uniprot.org/uniprot/A0A0J9YWQ3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YWQ3-1", "url": "https://www.uniprot.org/uniprot/A0A0J9YWQ3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YY65", "url": "https://www.uniprot.org/uniprot/A0A0J9YY65", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YY65-1", "url": "https://www.uniprot.org/uniprot/A0A0J9YY65-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JMH6", "url": "https://www.uniprot.org/uniprot/C9JMH6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JMH6-1", "url": "https://www.uniprot.org/uniprot/C9JMH6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JPV4", "url": "https://www.uniprot.org/uniprot/C9JPV4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JPV4-1", "url": "https://www.uniprot.org/uniprot/C9JPV4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08697-1", "url": "https://www.uniprot.org/uniprot/P08697-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08697-2", "url": "https://www.uniprot.org/uniprot/P08697-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MALLWGLLVLSWSCLQGPCSVFSPVSAMEPLGRQLTSGPNQEQVSPLTLLKLGNQEPGGQTALKSPPGVCSRDPTPEQTHRLARAMMAFTADLFSLVAQTSTCPNLILSPLSVALALSHLALGAQNHTLQRLQQVLHAGSGPCLPHLLSRLCQDLGPGAFRLAARMYLQKGFPIKEDFLEQSEQLFGAKPVSLTGKQEDDLANINQWVKEATEGKIQEFLSGLPEDTVLLLLNAIHFQGFWRNKFDPSLTQRDSFHLDEQFTVPVEMMQARTYPLRWFLLEQPEIQVAHFPFKNNMSFVVLVPTHFEWNVSQVLANLSWDTLHPPLVWERPTKVRLPKLYLKHQMDLVATLSQLGLQELFQAPDLRGISEQSLVVSGVQHQSTLELSEVGVEAAAATSIAMSRMSLSSFSVNRPFLFFIFEDTTGLPLFVGSVRNPNPSAPRELKEQQDSPGNKDFLQSLKGFPRGDKLFGPDLKLVPPMEEDYPQFGSPK", "length": 491, "header": "sp|P08697-1|A2AP_HUMAN Isoform 1 of Alpha-2-antiplasmin OS=Homo sapiens OX=9606 GN=SERPINF2 PE=1 SV=3 CANONICAL=P08697-1" }, "isoforms": [ { "isoform_ac": "A0A0G2JPA8-1", "url": "", "sequence": { "sequence": "MALLWGLLVLSWSCLQGPCSVFSPVSAMEPLGWQLTSGPNQEQVSPLTLLKLGNQVQPGAQNHTLQRLQQVLHAGSGPCLPHLLSRLCQDLGPGAFRLAARMYLQKGFPIKEDFLEQSEQLFGAKPVSLTGKQEDDLANINQWVKEATEGKIQEFLSGLPEDTVLLLLNAIHFQGFWRNKFDPSLTQRDSFHLDEQFTVPVEMMQARTYPLRWFLLEQPEIQVAHFPFKNNMSFVVLVPTHFEWNVSQVLANLSWDTLHPPLVWERPTKVRLPKLYLKHQMDLVATLSQLGLQELFQAPDLRGISEQSLVVSGVQHQSTLELSEVGVEAAAATSIAMSRMSLSSFSVNRPFLFFIFEDTTGLPLFVGSVRNPNPSAPRELKEQQDSPGNKDFLQSLKGFPRGDKLFGPDLKLVPPMEEDYPQFGSPK", "length": 427, "header": "tr|A0A0G2JPA8-1|A0A0G2JPA8_HUMAN Computationally mapped isoform of Alpha-2-antiplasmin OS=Homo sapiens OX=9606 GN=SERPINF2 PE=1 SV=1 CANONICAL=P08697-1" }, "locus": { "chromosome": "HSCHR17_1_CTG2", "start_pos": 183480, "end_pos": 173948, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000615103.4", "url": "https://www.ensembl.org/id/ENST00000615103.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000483294.1", "url": "https://www.ensembl.org/id/ENSP00000483294.1" } ] } }, { "isoform_ac": "A0A0J9YWQ3-1", "url": "", "sequence": { "sequence": "MALLWGLLVLSWSCLQGPCSVFSPVSAMEPLGWQLTSGPNQEQVSPLTLLKLGNQEPGGQTALKSPPGVCSRDPTPEQTHRLARAMMAFTADLFSLVAQTSTCPNLILSPLSVALALSHLALGFWRNKFDPSLTQRDSFHLDEQFTVPVEMMQARTYPLRWFLLEQPEIQVAHFPFKNNMSFVVLVPTHFEWNVSQVLANLSWDTLHPPLVWERPTKVRLPKLYLKHQMDLVATLSQLGLQELFQAPDLRGISEQSLVVSGVQH", "length": 264, "header": "tr|A0A0J9YWQ3-1|A0A0J9YWQ3_HUMAN Computationally mapped isoform of Alpha-2-antiplasmin OS=Homo sapiens OX=9606 GN=SERPINF2 PE=1 SV=1 CANONICAL=P08697-1" }, "locus": { "chromosome": "HSCHR17_1_CTG2", "start_pos": 183147, "end_pos": 173948, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000631718.1", "url": "https://www.ensembl.org/id/ENST00000631718.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000488065.1", "url": "https://www.ensembl.org/id/ENSP00000488065.1" } ] } }, { "isoform_ac": "A0A0J9YY65-1", "url": "", "sequence": { "sequence": "MALLWGLLVLSWSCLQGPCSVFSPVSAMEPLGWQLTSGPNQEQVSPLTLLKLGNQEPGGQTALKSPPGVCSRDPTPEQTHRLARAMMAFTADLFSLVAQTSTCPNLILSPLSVALALSHLALGAQNHTLQRLQQVLHAGSGPCLPHLLSRLCQDLGPGAFRLAARMYLQKGFPIKEDFLEQSEQLFGAKPVSLTGKQEDDLANINQWVKEATEGKIQEFLSGLPEDTVLLLLNAIHFQGFWRNKFDPSLTQRDSF", "length": 255, "header": "tr|A0A0J9YY65-1|A0A0J9YY65_HUMAN Computationally mapped isoform of Alpha-2-antiplasmin OS=Homo sapiens OX=9606 GN=SERPINF2 PE=1 SV=1 CANONICAL=P08697-1" }, "locus": { "chromosome": "HSCHR17_1_CTG2", "start_pos": 177596, "end_pos": 173948, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000632520.1", "url": "https://www.ensembl.org/id/ENST00000632520.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000488707.1", "url": "https://www.ensembl.org/id/ENSP00000488707.1" } ] } }, { "isoform_ac": "C9JMH6-1", "url": "", "sequence": { "sequence": "MALLWGLLVLSWSCLQGPCSVFSPVSAMEPLGRQLTSGPNQEQVSPLTLLKLGNQEPGGQTALKSPPGVCSRDPTPEQTHRLARAMMAFTADLFSLVAQTSTCPNLILSPLSVALALSHLALGAQNHTLQRLQQVLHAGSGPCLPHLLSRLCQDLGPGAFRLAARMYLQKGFPIKEDFLEQSEQLFGAKPVSLTGKQEDDLANINQWVKEATEGKIQEFLSGLPEDTVLLLLNAIHFQGFWRNKFDPSLTQRDSF", "length": 255, "header": "tr|C9JMH6-1|C9JMH6_HUMAN Computationally mapped isoform of Alpha-2-antiplasmin OS=Homo sapiens OX=9606 GN=SERPINF2 PE=1 SV=1 CANONICAL=P08697-1" }, "locus": { "chromosome": "17", "start_pos": 1754531, "end_pos": 1744996, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000453066", "url": "https://www.ensembl.org/id/ENST00000453066" }, { "database": "Ensembl Peptide", "id": "ENSP00000402286", "url": "https://www.ensembl.org/id/ENSP00000402286" } ] } }, { "isoform_ac": "C9JPV4-1", "url": "", "sequence": { "sequence": "MALLWGLLVLSWSCLQGPCSVFSPVSAMEPLGRQLTSGPNQEQVSPLTLLKLGNQEPGGQTALKSPPGVCSRDPTPEQTHRLARAMMAFTADLFSLVAQTSTCPNLILSPLSVALALSHLALGFWRNKFDPSLTQRDSFHLDEQFTVPVEMMQARTYPLRWFLLEQPEIQVAHFPFKNNMSFVVLVPTHFEWNVSQVLANLSWDTLHPPLVWERPTKVRLPKLYLKHQMDLVATLSQLGLQELFQAPDLRGISEQSLVVSGVQH", "length": 264, "header": "tr|C9JPV4-1|A2AP_HUMAN Computationally mapped isoform of Alpha-2-antiplasmin OS=Homo sapiens OX=9606 GN=SERPINF2 PE=1 SV=1 CANONICAL=P08697-1" }, "locus": { "chromosome": "17", "start_pos": 1754198, "end_pos": 1744996, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000453723.5", "url": "https://www.ensembl.org/id/ENST00000453723.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000402056.1", "url": "https://www.ensembl.org/id/ENSP00000402056.1" } ] } }, { "isoform_ac": "P08697-1", "url": "", "sequence": { "sequence": "MALLWGLLVLSWSCLQGPCSVFSPVSAMEPLGRQLTSGPNQEQVSPLTLLKLGNQEPGGQTALKSPPGVCSRDPTPEQTHRLARAMMAFTADLFSLVAQTSTCPNLILSPLSVALALSHLALGAQNHTLQRLQQVLHAGSGPCLPHLLSRLCQDLGPGAFRLAARMYLQKGFPIKEDFLEQSEQLFGAKPVSLTGKQEDDLANINQWVKEATEGKIQEFLSGLPEDTVLLLLNAIHFQGFWRNKFDPSLTQRDSFHLDEQFTVPVEMMQARTYPLRWFLLEQPEIQVAHFPFKNNMSFVVLVPTHFEWNVSQVLANLSWDTLHPPLVWERPTKVRLPKLYLKHQMDLVATLSQLGLQELFQAPDLRGISEQSLVVSGVQHQSTLELSEVGVEAAAATSIAMSRMSLSSFSVNRPFLFFIFEDTTGLPLFVGSVRNPNPSAPRELKEQQDSPGNKDFLQSLKGFPRGDKLFGPDLKLVPPMEEDYPQFGSPK", "length": 491, "header": "sp|P08697-1|A2AP_HUMAN Isoform 1 of Alpha-2-antiplasmin OS=Homo sapiens OX=9606 GN=SERPINF2 PE=1 SV=3 CANONICAL=P08697-1" }, "locus": { "chromosome": "17", "start_pos": 1754531, "end_pos": 1744996, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000324015.7", "url": "https://www.ensembl.org/id/ENST00000324015.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000321853.3", "url": "https://www.ensembl.org/id/ENSP00000321853.3" } ] } }, { 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"database": "PubMed", "url": "https://glygen.org/publication/PubMed/16335952" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 309, "start_aa": "Asn", "end_pos": 309, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn309", "evidence": [ { "id": "P08697", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08697#ptm_processing" }, { "id": "16335952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16335952" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 316, "start_aa": "Asn", "end_pos": 316, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn316", "evidence": [ { "id": "P08697", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08697#ptm_processing" } ] }, { "glytoucan_ac": "G29068FM", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 36, "start_aa": "Thr", "end_pos": 36, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr36", "evidence": [ { "id": "P08697", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 36, "start_aa": "Thr", "end_pos": 36, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr36", "evidence": [ { "id": "P08697", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G53434XO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", 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"end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr397", "evidence": [ { "id": "P08697", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 397, "start_aa": "Thr", "end_pos": 397, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr397", "evidence": [ { "id": "P08697", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G29068FM", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 45, "start_aa": "Ser", "end_pos": 45, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser45", "evidence": [ { "id": "P08697", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 45, "start_aa": "Ser", "end_pos": 45, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser45", "evidence": [ { "id": "P08697", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported", "glycoprotein_predicted" ], "publication": [ { "title": "A novel missense mutation in the human plasmin inhibitor (alpha2-antiplasmin) gene associated with a bleeding tendency.", "journal": "British journal of haematology", "date": "1999", "authors": "Lind B, Thorsen S", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "reference": [ { "type": "PubMed", "id": "10583218", "url": "https://glygen.org/publication/PubMed/10583218" } ] }, { "title": "The blockage of the high-affinity lysine binding sites of plasminogen by EACA significantly inhibits prourokinase-induced plasminogen activation.", "journal": "Biochimica et biophysica acta", "date": "2002", "authors": "Sun Z, Chen YH, Wang P, Zhang J, Gurewich V, Zhang P, Liu JN", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "12007600", "url": "https://glygen.org/publication/PubMed/12007600" } ] }, { "title": "Isolation and characterization of alpha2-plasmin inhibitor from human plasma. A novel proteinase inhibitor which inhibits activator-induced clot lysis.", "journal": "The Journal of biological chemistry", "date": "1976", "authors": "Moroi M, Aoki N", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "134998", "url": "https://glygen.org/publication/PubMed/134998" } ] }, { "title": "Bovine alpha 2-antiplasmin. N-terminal and reactive site sequence.", "journal": "FEBS Lett.", "date": "1992", "authors": "Christensen S, Sottrup-Jensen L", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "reference": [ { "type": "PubMed", "id": "1385210", "url": "https://glygen.org/publication/PubMed/1385210" } ] }, { "title": "Isolation of dense granules from human platelets.", "journal": "Methods in enzymology", "date": "1992", "authors": "Fukami MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "1435334", "url": "https://glygen.org/publication/PubMed/1435334" } ] }, { "title": "Characterization of the proteins released from activated platelets leads to localization of novel platelet proteins in human atherosclerotic lesions.", "journal": "Blood", "date": "2004", "authors": "Coppinger JA, Cagney G, Toomey S, Kislinger T, Belton O, McRedmond JP, Cahill DJ, Emili A, Fitzgerald DJ, Maguire PB", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "14630798", "url": "https://glygen.org/publication/PubMed/14630798" } ] }, { "title": "A novel plasma proteinase potentiates alpha2-antiplasmin inhibition of fibrin digestion.", "journal": "Blood", "date": "2004", "authors": "Lee KN, Jackson KW, Christiansen VJ, Chung KH, McKee PA", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "reference": [ { "type": "PubMed", "id": "14751930", "url": "https://glygen.org/publication/PubMed/14751930" } ] }, { "title": "The nucleotide transporter MRP4 (ABCC4) is highly expressed in human platelets and present in dense granules, indicating a role in mediator storage.", "journal": "Blood", "date": "2004", "authors": "Jedlitschky G, Tirschmann K, Lubenow LE, Nieuwenhuis HK, Akkerman JW, Greinacher A, Kroemer HK", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "15297306", "url": "https://glygen.org/publication/PubMed/15297306" } ] }, { "title": "Matriptase-3 is a novel phylogenetically preserved membrane-anchored serine protease with broad serpin reactivity.", "journal": "The Biochemical journal", "date": "2005", "authors": "Szabo R, Netzel-Arnett S, Hobson JP, Antalis TM, Bugge TH", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "reference": [ { "type": "PubMed", "id": "15853774", "url": "https://glygen.org/publication/PubMed/15853774" } ] }, { "title": "Antiplasmin-cleaving enzyme is a soluble form of fibroblast activation protein.", "journal": "Blood", "date": "2006", "authors": "Lee KN, Jackson KW, Christiansen VJ, Lee CS, Chun JG, McKee PA", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "reference": [ { "type": "PubMed", "id": "16223769", "url": "https://glygen.org/publication/PubMed/16223769" } ] }, { "title": "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.", "journal": "Journal of proteome research", "date": "2005", "authors": "Liu T, Qian WJ, Gritsenko MA, Camp DG 2nd, Monroe ME, Moore RJ, Smith RD", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697#ptm_processing" }, { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "reference": [ { "type": "PubMed", "id": "16335952", "url": "https://glygen.org/publication/PubMed/16335952" } ] }, { "title": "Evaluation of aprotinin and tranexamic acid in different in vitro and in vivo models of fibrinolysis, coagulation and thrombus formation.", "journal": "Journal of thrombosis and haemostasis : JTH", "date": "2007", "authors": "Sperzel M, Huetter J", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "17666018", "url": "https://glygen.org/publication/PubMed/17666018" } ] }, { "title": "Plasminogen activation by receptor-bound urokinase. A kinetic study with both cell-associated and isolated receptor.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Ellis V, Behrendt N, Dano K", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "1829461", "url": "https://glygen.org/publication/PubMed/1829461" } ] }, { "title": "Cellular receptor for urokinase plasminogen activator. Carboxyl-terminal processing and membrane anchoring by glycosyl-phosphatidylinositol.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Ploug M, Ronne E, Behrendt N, Jensen AL, Blasi F, Dano K", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "1846368", "url": "https://glygen.org/publication/PubMed/1846368" } ] }, { "title": "Purification and characterization of human antiplasmin, the fast-acting plasmin inhibitor in plasma.", "journal": "Eur. J. Biochem.", "date": "1977", "authors": "Wiman B, Collen D", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "reference": [ { "type": "PubMed", "id": "21075", "url": "https://glygen.org/publication/PubMed/21075" } ] }, { "title": "The human receptor for urokinase plasminogen activator. NH2-terminal amino acid sequence and glycosylation variants.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Behrendt N, Ronne E, Ploug M, Petri T, Lober D, Nielsen LS, Schleuning WD, Blasi F, Appella E, Dano K", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "2156852", "url": "https://glygen.org/publication/PubMed/2156852" } ] }, { "title": "The receptor for urokinase type plasminogen activator polarizes expression of the protease to the leading edge of migrating monocytes and promotes degradation of enzyme inhibitor complexes.", "journal": "The Journal of cell biology", "date": "1990", "authors": "Estreicher A, Muhlhauser J, Carpentier JL, Orci L, Vassalli JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "2166055", "url": "https://glygen.org/publication/PubMed/2166055" } ] }, { "title": "Characterization of the gene for human plasminogen, a key proenzyme in the fibrinolytic system.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Petersen TE, Martzen MR, Ichinose A, Davie EW", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "2318848", "url": "https://glygen.org/publication/PubMed/2318848" } ] }, { "title": "The annexin A2/S100A10 system in health and disease: emerging paradigms.", "journal": "Journal of biomedicine & biotechnology", "date": "2012", "authors": "Hedhli N, Falcone DJ, Huang B, Cesarman-Maus G, Kraemer R, Zhai H, Tsirka SE, Santambrogio L, Hajjar KA", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "23193360", "url": "https://glygen.org/publication/PubMed/23193360" } ] }, { "title": "Annexin A2 system in human biology: cell surface and beyond.", "journal": "Seminars in thrombosis and hemostasis", "date": "2013", "authors": "Luo M, Hajjar KA", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "23483454", "url": "https://glygen.org/publication/PubMed/23483454" } ] }, { "title": "High precision platelet releasate definition by quantitative reversed protein profiling--brief report.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2013", "authors": "Wijten P, van Holten T, Woo LL, Bleijerveld OB, Roest M, Heck AJ, Scholten A", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "23640497", "url": "https://glygen.org/publication/PubMed/23640497" } ] }, { "title": "Primary structure of human alpha 2-antiplasmin, a serine protease inhibitor (serpin).", "journal": "J. 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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:5345", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5345", "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": "Q61247-1", "protein_name": "Alpha-2-antiplasmin", "gene_name": "Serpinf2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MALLRGLLVLSLSCLQGPCFTFSPVSAVDLPGQQPVSEQAQQKLPLPALFKLDNQDFGDHATLKRSPGHCKSVPTAEETRRLAQAMMAFTTDLFSLVAQTSTSSNLVLSPLSVALALSHLALGAQNQTLHSLHRVLHMNTGSCLPHLLSHFYQNLGPGTIRLAARIYLQKGFPIKDDFLEQSERLFGAKPVKLTGKQEEDLANINQWVKEATEGKIEDFLSELPDSTVLLLLNAIHFHGFWRTKFDPSLTQKDFFHLDERFTVSVDMMHAVSYPLRWFLLEQPEIQVAHFPFKNNMSFVVVMPTYFEWNVSEVLANLTWDTLYHPSLQERPTKVWLPKLHLQQQLDLVATLSQLGLQELFQGPDLRGISEQNLVVSSVQHQSTMELSEAGVEAAAATSVAMNRMSLSSFTVNRPFLFFIMEDTIGVPLFVGSVRNPNPSALPQLQEQRDSPDNRLIGQNDKADFHGGKTFGPDLKLAPRMEEDYPQFSSPK", "length": 491 }, "evidence": [ { "id": "45920681", "url": "http://www.informatics.jax.org/homology/45920681", "database": "MGI" }, { "id": "P08697", "url": "https://omabrowser.org/oma/group/P08697/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 4, "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": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "pmid": "" }, { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "pmid": "" }, { "name": "endopeptidase inhibitor activity", "id": "GO:0004866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004866", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 8, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "pmid": "" }, { "name": "platelet alpha granule lumen", "id": "GO:0031093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031093", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "pmid": "" }, { "name": "blood microparticle", "id": "GO:0072562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072562", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "pmid": "" }, { "name": "fibrinogen complex", "id": "GO:0005577", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005577", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "pmid": "" }, { "name": "collagen-containing extracellular matrix", "id": "GO:0062023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 17, "go_terms": [ { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "pmid": "" }, { "name": "maintenance of blood vessel diameter homeostasis by renin-angiotensin", "id": "GO:0002034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002034", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "pmid": "" }, { "name": "response to organic substance", "id": "GO:0010033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010033", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "pmid": "" }, { "name": "collagen fibril organization", "id": "GO:0030199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030199", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "pmid": "" }, { "name": "positive regulation of collagen biosynthetic process", "id": "GO:0032967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032967", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "pmid": "" }, { "name": "blood vessel morphogenesis", "id": "GO:0048514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048514", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "pmid": "" }, { "name": "negative regulation of fibrinolysis", "id": "GO:0051918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051918", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "pmid": "" }, { "name": "positive regulation of transforming growth factor beta production", "id": "GO:0071636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071636", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "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": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "pmid": "" }, { "name": "acute-phase response", "id": "GO:0006953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006953", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "pmid": "" }, { "name": "negative regulation of plasminogen activation", "id": "GO:0010757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010757", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "pmid": "" }, { "name": "fibrinolysis", "id": "GO:0042730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042730", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "pmid": "" }, { "name": "positive regulation of stress fiber assembly", "id": "GO:0051496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051496", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "pmid": "" }, { "name": "positive regulation of cell-cell adhesion mediated by cadherin", "id": "GO:2000049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000049", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "alpha-2-antiplasmin N-glycosylated 1 (human)", "definition": "An alpha-2-antiplasmin (human) that has been N-glycosylated at the residue equivalent to Asn-126 of the amino acid sequence represented by UniProtKB:P08697-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P08697-1, Asn-126, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000054553", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054553" } ] }, { "name": "alpha-2-antiplasmin N-glycosylated 2 (human)", "definition": "An alpha-2-antiplasmin (human) that has been N-glycosylated at the residue equivalent to Asn-126 of the amino acid sequence represented by UniProtKB:P08697-1, in which the glycan composition is represented by GlyTouCan:G06247RL. Example: UniProtKB:P08697-1, Asn-126, MOD:00160~GNO:G06247RL. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000054554", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054554" } ] }, { "name": "alpha-2-antiplasmin O-glycosylated 1 (human)", "definition": "An alpha-2-antiplasmin (human) that has been O-glycosylated at the residue equivalent to Ser-37 of the amino acid sequence represented by UniProtKB:P08697-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P08697-1, Ser-37, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054555", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054555" } ] }, { "name": "alpha-2-antiplasmin O-glycosylated 2 (human)", "definition": "An alpha-2-antiplasmin (human) that has been O-glycosylated at the residue equivalent to Ser-45 of the amino acid sequence represented by UniProtKB:P08697-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P08697-1, Ser-45, MOD:00002~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054556", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054556" } ] }, { "name": "alpha-2-antiplasmin O-glycosylated 3 (human)", "definition": "An alpha-2-antiplasmin (human) that has been O-glycosylated at the residue equivalent to Ser-45 of the amino acid sequence represented by UniProtKB:P08697-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P08697-1, Ser-45, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054557", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054557" } ] }, { "name": "alpha-2-antiplasmin O-glycosylated 4 (human)", "definition": "An alpha-2-antiplasmin (human) that has been O-glycosylated at the residue equivalent to Thr-36 of the amino acid sequence represented by UniProtKB:P08697-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P08697-1, Thr-36, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054558", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054558" } ] }, { "name": "alpha-2-antiplasmin O-glycosylated 5 (human)", "definition": "An alpha-2-antiplasmin (human) that has been O-glycosylated at the residue equivalent to Thr-36 of the amino acid sequence represented by UniProtKB:P08697-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P08697-1, Thr-36, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054559", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054559" } ] }, { "name": "alpha-2-antiplasmin O-glycosylated 6 (human)", "definition": "An alpha-2-antiplasmin (human) that has been O-glycosylated at the residue equivalent to Thr-36 of the amino acid sequence represented by UniProtKB:P08697-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P08697-1, Thr-36, MOD:00005~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054560", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054560" } ] }, { "name": "alpha-2-antiplasmin O-glycosylated 7 (human)", "definition": "An alpha-2-antiplasmin (human) that has been O-glycosylated at the residue equivalent to Thr-397 of the amino acid sequence represented by UniProtKB:P08697-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P08697-1, Thr-397, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054561", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054561" } ] }, { "name": "alpha-2-antiplasmin O-glycosylated 8 (human)", "definition": "An alpha-2-antiplasmin (human) that has been O-glycosylated at the residue equivalent to Thr-397 of the amino acid sequence represented by UniProtKB:P08697-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P08697-1, Thr-397, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054562", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054562" } ] } ], "site_annotation": [ { "start_pos": 126, "end_pos": 128, "annotation": "n_glycosylation_sequon" }, { "start_pos": 295, "end_pos": 297, "annotation": "n_glycosylation_sequon" }, { "start_pos": 309, "end_pos": 311, "annotation": "n_glycosylation_sequon" }, { "start_pos": 316, "end_pos": 318, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Proteolytically cleaved at Pro-39 by both the prolyl endopeptidase FAP form and antiplasmin-cleaving enzyme FAP soluble form to generate mature alpha-2-antiplasmin.", "evidence": [ { "database": "UniProtKB", "id": "P08697", "url": "https://www.uniprot.org/uniprot/P08697" }, { "database": "PubMed", "id": "16223769", "url": "https://glygen.org/publication/PubMed/16223769" }, { "database": "PubMed", "id": "14751930", "url": "https://glygen.org/publication/PubMed/14751930" } ] } ], "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": [ 126, 295, 309, 316 ], "o_linked_sites": [ 36, 37, 45, 397 ], "snv_sites": [ 36, 37, 45, 126, 128, 192, 296, 309, 316, 318, 397, 414, 434, 438 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 126, "end_pos": 128 }, { "start_pos": 295, "end_pos": 297 }, { "start_pos": 309, "end_pos": 311 }, { "start_pos": 316, "end_pos": 318 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 16 }, { "field": "total_sites", "count": 8 }, { "field": "n_linked_glycans", "count": 4 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "field": "o_linked_glycans", "count": 3 }, { "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": 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": 12 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 4 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 3 }, { "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": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 17 }, { "field": "total_sites", "count": 14 } ], "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": 14 }, { "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": "publication", "table_stats": [ { "field": "total", "count": 55 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }