{ "uniprot_canonical_ac": "P07093-1", "uniprot_ac": "P07093", "uniprot_id": "GDN_HUMAN", "mass": { "chemical_mass": 44002.0, "monoisotopic_mass": 44002.0 }, "refseq": { "ac": "NP_001130000", "name": "glia-derived nexin isoform b precursor", "summary": "This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. Thrombin, urokinase, plasmin and trypsin are among the proteases that this family member can inhibit. This gene is a susceptibility gene for chronic obstructive pulmonary disease and for emphysema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130000" }, "gene_names": [ { "name": "SERPINE2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P07093", "id": "P07093" }, { "name": "GDN; GDNPF; PI-7; PI7; PN-1; PN1; PNI", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130000", "id": "NP_001130000" }, { "name": "PI7", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07093", "id": "P07093" }, { "name": "PN1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07093", "id": "P07093" }, { "name": "SERPINE2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130000", "id": "NP_001130000" } ], "protein_names": [ { "name": "Glia-derived nexin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P07093" }, { "name": "GDN", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07093" }, { "name": "PI-7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07093" }, { "name": "PN-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07093" }, { "name": "Peptidase inhibitor 7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07093" }, { "name": "Protease nexin 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07093" }, { "name": "Protease nexin I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07093" }, { "name": "Serpin E2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07093" }, { "name": "glia-derived nexin isoform b precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130000", "id": "NP_001130000" }, { "name": "glial-derived neurite promoting factor; glia-derived nexin; serpin E2; protease nexin I; peptidase inhibitor 7; serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130000", "id": "NP_001130000" } ], "function": [ { "annotation": "SERPINE2/PN-1 regulates the DNA damage response and radioresistance by activating ATM in lung cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001130000", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130000" }, { "database": "PubMed", "id": "34648881", "url": "https://glygen.org/publication/PubMed/34648881" } ] }, { "annotation": "Serine protease inhibitor with activity toward thrombin, trypsin, and urokinase. Promotes neurite extension by inhibiting thrombin. Binds heparin.", "evidence": [ { "database": "UniProtKB", "id": "P07093", "url": "https://www.uniprot.org/uniprot/P07093#function" } ] }, { "annotation": "Targeting tumor exosomal circular RNA cSERPINE2 suppresses breast cancer progression by modulating MALT1-NF-B-IL-6 axis of tumor-associated macrophages. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001130000", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130000" }, { "database": "PubMed", "id": "36797769", "url": "https://glygen.org/publication/PubMed/36797769" } ] }, { "annotation": "This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. Thrombin, urokinase, plasmin and trypsin are among the proteases that this family member can inhibit. This gene is a susceptibility gene for chronic obstructive pulmonary disease and for emphysema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_001130000", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130000" } ] }, { "annotation": "Upregulation of SERPINE2 Results in Poor Prognosis of Hepatoblastoma via Promoting Invasion Abilities. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001130000", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130000" }, { "database": "PubMed", "id": "36505099", "url": "https://glygen.org/publication/PubMed/36505099" } ] }, { "annotation": "[Bioinformatic analysis of immune correlation and prognostic value of SERPINs in glioma].", "evidence": [ { "database": "RefSeq", "id": "NP_001130000", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130000" }, { "database": "PubMed", "id": "35356880", "url": "https://glygen.org/publication/PubMed/35356880" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs952641627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs952641627" }, { "id": "rs952641627", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs952641627#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 107, "end_pos": 107, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IVT->NVT).", "chr_id": "2", "chr_pos": "223998282", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I107", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759441644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759441644" }, { "id": "rs759441644", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759441644" }, { "id": "rs759441644", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759441644#frequency_tab" }, { "id": "rs759441644", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759441644" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 118, "end_pos": 118, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->SAS).", "chr_id": "2", "chr_pos": "223998249", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N118", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759441644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759441644" }, { "id": "rs759441644", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759441644" }, { "id": "rs759441644", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759441644#frequency_tab" }, { "id": "rs759441644", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759441644" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 118, "end_pos": 118, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->TAS).", "chr_id": "2", "chr_pos": "223998249", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N118", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1450184748", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1450184748" }, { "id": "rs1450184748", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1450184748" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 118, "end_pos": 118, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->YAS).", "chr_id": "2", "chr_pos": "223998250", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N118", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1405144392", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1405144392" }, { "id": "rs1405144392", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1405144392#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 142, "end_pos": 142, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVN->NVS).", "chr_id": "2", "chr_pos": "223998177", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N142", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P07093", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P07093" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 250, "end_pos": 250, "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 (SIS->NIS).", "chr_id": "2", "chr_pos": "223984887", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S250", "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": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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, 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 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 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, 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"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, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "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", 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"resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P07093", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07093" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": 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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 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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 mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P07093", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07093" } ], "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P07093", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07093" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07093", "url": "https://www.uniprot.org/uniprot/P07093" } ], "common_name": "Human" } ], "gene": [ { "name": "SERPINE2", "url": "https://www.uniprot.org/uniprot/P07093", "locus": { "chromosome": "2", "start_pos": 69275, "end_pos": 5034, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "LRG_645", "url": "https://www.ensembl.org/id/LRG_645" } ] } } ], "crossref": [ { "id": "ENSG00000135919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135919", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P07093", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P07093", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd19573", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd19573", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "SERPINE2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERPINE2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "5270", "url": "https://www.ncbi.nlm.nih.gov/gene/5270", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "8951", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=8951", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P07093", "url": "https://www.ebi.ac.uk/intact/interactors/id:P07093*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000215", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000215", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023795", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023795", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023796", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023796", "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:5270", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5270", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "177010", "url": "http://www.omim.org/entry/177010", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P07093", "url": "https://www.nextprot.org/entry/NX_P07093", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P07093", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07093", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "PNNTKMR", "url": "https://omabrowser.org/oma/group/PNNTKMR/", "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:SF48", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11461:SF48", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "4DY0", "url": "https://www.rcsb.org/structure/4DY0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4DY7", "url": "https://www.rcsb.org/structure/4DY7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00079", "url": "http://pfam.xfam.org/family/PF00079", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P07093", "url": "https://pharos.nih.gov/targets/P07093", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000053641", "url": "https://proconsortium.org/app/entry/PR:000053641", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_P07093", "url": "http://purl.obolibrary.org/obo/PR_P07093", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875", "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_001130000", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130000", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P07093", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "C9JN98", "url": "https://www.uniprot.org/uniprot/C9JN98", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JN98-1", "url": "https://www.uniprot.org/uniprot/C9JN98-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JRK5", "url": "https://www.uniprot.org/uniprot/C9JRK5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JRK5-1", "url": "https://www.uniprot.org/uniprot/C9JRK5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9K031", "url": "https://www.uniprot.org/uniprot/C9K031", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9K031-1", "url": "https://www.uniprot.org/uniprot/C9K031-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07093", "url": "https://www.uniprot.org/uniprot/P07093", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07093-1", "url": "https://www.uniprot.org/uniprot/P07093-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07093-2", "url": "https://www.uniprot.org/uniprot/P07093-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07093-3", "url": "https://www.uniprot.org/uniprot/P07093-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MNWHLPLFLLASVTLPSICSHFNPLSLEELGSNTGIQVFNQIVKSRPHDNIVISPHGIASVLGMLQLGADGRTKKQLAMVMRYGVNGVGKILKKINKAIVSKKNKDIVTVANAVFVKNASEIEVPFVTRNKDVFQCEVRNVNFEDPASACDSINAWVKNETRDMIDNLLSPDLIDGVLTRLVLVNAVYFKGLWKSRFQPENTKKRTFVAADGKSYQVPMLAQLSVFRCGSTSAPNDLWYNFIELPYHGESISMLIALPTESSTPLSAIIPHISTKTIDSWMSIMVPKRVQVILPKFTAVAQTDLKEPLKVLGITDMFDSSKANFAKITTGSENLHVSHILQKAKIEVSEDGTKASAATTAILIARSSPPWFIVDRPFLFFIRHNPTGAVLFMGQINKP", "length": 398, "header": "sp|P07093-1|GDN_HUMAN Isoform 1 of Glia-derived nexin OS=Homo sapiens OX=9606 GN=SERPINE2 PE=1 SV=1 CANONICAL=P07093-1" }, "isoforms": [ { "isoform_ac": "C9JN98-1", "url": "", "sequence": { "sequence": "MNWHLPLFLLASVTLPSICSHFNPLSLEELGSNTGIQVFNQIVKSRPHDNIVISPHGIASVLGMLQLGADGRTKKQLAMVMRYGVNGVGKILKKINKAIVSKKNKDIVTVANAVFVKNASEIEVPFVTRNKDVFQCEVRNVNFEDPASACDSINAWVKNETRDMIDNLLSPDLIDGVLTRLVLVNAVYFKGLWKSRFQPENTKKRTFVAADGKSYQVPMLAQLSVFRCGSTSAPNDLWYNFIELPYHGESISMLIALPTESSTPLSAIIPHISTK", "length": 275, "header": "tr|C9JN98-1|C9JN98_HUMAN Computationally mapped isoform of Serpin family E member 2 OS=Homo sapiens OX=9606 GN=SERPINE2 PE=1 SV=8 CANONICAL=P07093-1" }, "locus": { "chromosome": "2", "start_pos": 224001900, "end_pos": 223984811, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000432738.5", "url": "https://www.ensembl.org/id/ENST00000432738.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000408452.1", "url": "https://www.ensembl.org/id/ENSP00000408452.1" } ] } }, { "isoform_ac": "C9JRK5-1", "url": "", "sequence": { "sequence": "MNWHLPLFLLASVTLPSICSHFNPLSLEELGSNTGIQVFNQI", "length": 42, "header": "tr|C9JRK5-1|C9JRK5_HUMAN Computationally mapped isoform of Serpin family E member 2 OS=Homo sapiens OX=9606 GN=SERPINE2 PE=4 SV=1 CANONICAL=P07093-1" }, "locus": { "chromosome": "2", "start_pos": 224001900, "end_pos": 224001775, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000423446.1", "url": "https://www.ensembl.org/id/ENST00000423446.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000394518.1", "url": "https://www.ensembl.org/id/ENSP00000394518.1" } ] } }, { "isoform_ac": "C9K031-1", "url": "", "sequence": { "sequence": "MNWHLPLFLLASVTLPSICSHFNPLSLEELGSNTGIQVFNQIVKSRPHDNIVISPHGIASVLGMLQLGADGRTKKQLAMVMRYGVN", "length": 86, "header": "tr|C9K031-1|GDN_HUMAN Computationally mapped isoform of Glia-derived nexin OS=Homo sapiens OX=9606 GN=SERPINE2 PE=1 SV=8 CANONICAL=P07093-1" }, "locus": { "chromosome": "2", "start_pos": 224001900, "end_pos": 224001643, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000454956.1", "url": "https://www.ensembl.org/id/ENST00000454956.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000399655.1", "url": "https://www.ensembl.org/id/ENSP00000399655.1" } ] } }, { "isoform_ac": "P07093-1", "url": "", "sequence": { "sequence": "MNWHLPLFLLASVTLPSICSHFNPLSLEELGSNTGIQVFNQIVKSRPHDNIVISPHGIASVLGMLQLGADGRTKKQLAMVMRYGVNGVGKILKKINKAIVSKKNKDIVTVANAVFVKNASEIEVPFVTRNKDVFQCEVRNVNFEDPASACDSINAWVKNETRDMIDNLLSPDLIDGVLTRLVLVNAVYFKGLWKSRFQPENTKKRTFVAADGKSYQVPMLAQLSVFRCGSTSAPNDLWYNFIELPYHGESISMLIALPTESSTPLSAIIPHISTKTIDSWMSIMVPKRVQVILPKFTAVAQTDLKEPLKVLGITDMFDSSKANFAKITTGSENLHVSHILQKAKIEVSEDGTKASAATTAILIARSSPPWFIVDRPFLFFIRHNPTGAVLFMGQINKP", "length": 398, "header": "sp|P07093-1|GDN_HUMAN Isoform 1 of Glia-derived nexin OS=Homo sapiens OX=9606 GN=SERPINE2 PE=1 SV=1 CANONICAL=P07093-1" }, "locus": { "chromosome": "2", "start_pos": 224001900, "end_pos": 223975870, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000258405.9", "url": "https://www.ensembl.org/id/ENST00000258405.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000258405.4", "url": "https://www.ensembl.org/id/ENSP00000258405.4" } ] } }, { "isoform_ac": "P07093-2", "url": "", "sequence": { "sequence": "MNWHLPLFLLASVTLPSICSHFNPLSLEELGSNTGIQVFNQIVKSRPHDNIVISPHGIASVLGMLQLGADGRTKKQLAMVMRYGVNGVGKILKKINKAIVSKKNKDIVTVANAVFVKNASEIEVPFVTRNKDVFQCEVRNVNFEDPASACDSINAWVKNETRDMIDNLLSPDLIDGVLTRLVLVNAVYFKGLWKSRFQPENTKKRTFVAADGKSYQVPMLAQLSVFRCGSTSAPNDLWYNFIELPYHGESISMLIALPTESSTPLSAIIPHISTKTIDSWMSIMVPKRVQVILPKFTAVAQTDLKEPLKVLGITDMFDSSKANFAKITRSENLHVSHILQKAKIEVSEDGTKASAATTAILIARSSPPWFIVDRPFLFFIRHNPTGAVLFMGQINKP", "length": 397, "header": "sp|P07093-2|GDN_HUMAN Isoform 2 of Glia-derived nexin OS=Homo sapiens OX=9606 GN=SERPINE2 PE=1 SV=1 CANONICAL=P07093-1" }, "locus": { "chromosome": "2", "start_pos": 224001900, "end_pos": 223975870, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000409840.7", "url": "https://www.ensembl.org/id/ENST00000409840.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000386969.3", "url": "https://www.ensembl.org/id/ENSP00000386969.3" } ] } }, { "isoform_ac": "P07093-3", "url": "", "sequence": { "sequence": "MSDCRSSLVEGTMNWHLPLFLLASVTLPSICSHFNPLSLEELGSNTGIQVFNQIVKSRPHDNIVISPHGIASVLGMLQLGADGRTKKQLAMVMRYGVNGVGKILKKINKAIVSKKNKDIVTVANAVFVKNASEIEVPFVTRNKDVFQCEVRNVNFEDPASACDSINAWVKNETRDMIDNLLSPDLIDGVLTRLVLVNAVYFKGLWKSRFQPENTKKRTFVAADGKSYQVPMLAQLSVFRCGSTSAPNDLWYNFIELPYHGESISMLIALPTESSTPLSAIIPHISTKTIDSWMSIMVPKRVQVILPKFTAVAQTDLKEPLKVLGITDMFDSSKANFAKITRSENLHVSHILQKAKIEVSEDGTKASAATTAILIARSSPPWFIVDRPFLFFIRHNPTGAVLFMGQINKP", "length": 409, "header": "sp|P07093-3|GDN_HUMAN Isoform 3 of Glia-derived nexin OS=Homo sapiens OX=9606 GN=SERPINE2 PE=1 SV=1 CANONICAL=P07093-1" }, "locus": { "chromosome": "2", "start_pos": 224038503, "end_pos": 223975870, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000447280.6", "url": "https://www.ensembl.org/id/ENST00000447280.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000415786.2", "url": "https://www.ensembl.org/id/ENSP00000415786.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 118, "start_aa": "Asn", "end_pos": 118, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn118", "evidence": [ { "id": "P07093", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07093#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 120, "start_aa": "Ser", "end_pos": 120, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser120", "evidence": [ { "id": "P07093", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07093" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 130, "start_aa": "Asn", "end_pos": 130, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn130", "evidence": [ { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 159, "start_aa": "Asn", "end_pos": 159, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn159", "evidence": [ { "id": "P07093", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07093#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 359, "start_aa": "Thr", "end_pos": 359, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr359", "evidence": [ { "id": "P07093", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] } ], "phosphorylation": [ { "start_pos": 319, "end_pos": 319, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P07093", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07093" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser319" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported", "glycoprotein_predicted" ], "publication": [ { "title": "Relocating the active site of activated protein C eliminates the need for its protein S cofactor. A fluorescence resonance energy transfer study.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Yegneswaran S, Smirnov MD, Safa O, Esmon NL, Esmon CT, Johnson AE", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "10026158", "url": "https://glygen.org/publication/PubMed/10026158" } ] }, { "title": "Mechanisms for the involvement of high molecular weight kininogen in surface-dependent reactions of Hageman factor.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1976", "authors": "Griffin JH, Cochrane CG", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "1066663", "url": "https://glygen.org/publication/PubMed/1066663" } ] }, { "title": "Thrombin-mediated feedback activation of factor XI on the activated platelet surface is preferred over contact activation by factor XIIa or factor XIa.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Baglia FA, Walsh PN", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "10781579", "url": "https://glygen.org/publication/PubMed/10781579" } ] }, { "title": "The soluble endothelial protein C receptor binds to activated neutrophils: involvement of proteinase-3 and CD11b/CD18.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2000", "authors": "Kurosawa S, Esmon CT, Stearns-Kurosawa DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "11035113", "url": "https://glygen.org/publication/PubMed/11035113" } ] }, { "title": "Factor XII-dependent contact activation on endothelial cells and binding proteins gC1qR and cytokeratin 1.", "journal": "Thrombosis and haemostasis", "date": "2001", "authors": "Joseph K, Shibayama Y, Ghebrehiwet B, Kaplan AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "11204562", "url": "https://glygen.org/publication/PubMed/11204562" } ] }, { "title": "Endothelial cell protein C receptor plays an important role in protein C activation in vivo.", "journal": "Blood", "date": "2001", "authors": "Taylor FB Jr, Peer GT, Lockhart MS, Ferrell G, Esmon CT", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "11238108", "url": "https://glygen.org/publication/PubMed/11238108" } ] }, { "title": "Model for a factor IX activation complex on blood platelets: dimeric conformation of factor XIa is essential.", "journal": "Blood", "date": "2001", "authors": "Gailani D, Ho D, Sun MF, Cheng Q, Walsh PN", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "11342438", "url": "https://glygen.org/publication/PubMed/11342438" } ] }, { "title": "Factor XI binding to the platelet glycoprotein Ib-IX-V complex promotes factor XI activation by thrombin.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Baglia FA, Badellino KO, Li CQ, Lopez JA, Walsh PN", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "11696542", "url": "https://glygen.org/publication/PubMed/11696542" } ] }, { "title": "Identification and characterization of prolylcarboxypeptidase as an endothelial cell 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