{ "uniprot_canonical_ac": "O00187-1", "uniprot_ac": "O00187", "uniprot_id": "MASP2_HUMAN", "mass": { "chemical_mass": 75702.0, "monoisotopic_mass": 75702.0 }, "refseq": { "ac": "NP_006601", "name": "mannan-binding lectin serine protease 2 isoform 1 preproprotein", "summary": "This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is proteolytically processed to generate A and B chains that heterodimerize to form the mature protease. This protease cleaves complement components C2 and C4 in order to generate C3 convertase in the lectin pathway of the complement system. The encoded protease also plays a role in the coagulation cascade through cleavage of prothrombin to form thrombin. Myocardial infarction and acute stroke patients exhibit reduced serum concentrations of the encoded protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006601" }, "gene_names": [ { "name": "MASP2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00187", "id": "O00187" }, { "name": "MAP-2; MAP19; MASP-2; MASP1P1; sMAP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006601", "id": "NP_006601" }, { "name": "MASP2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006601", "id": "NP_006601" } ], "protein_names": [ { "name": "Mannan-binding lectin serine protease 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00187" }, { "name": "3.4.21.104", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00187" }, { "name": "MASP-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00187" }, { "name": "MBL-associated serine protease 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00187" }, { "name": "Mannose-binding protein-associated serine protease 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00187" }, { "name": "mannan-binding lectin serine protease 1 pseudogene 1; mannan binding lectin serine peptidase 2; mannan-binding lectin serine peptidase 1 pseudogene 1; mannan-binding lectin serine protease 2; MBL-associated plasma protein of 19 kD; small MBL-associated protein; mannose-binding protein-associated serine protease 2; mannose-binding lectin-associated serine protease 2; mannose-binding lectin associated protein 19", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006601", "id": "NP_006601" }, { "name": "mannan-binding lectin serine protease 2 isoform 1 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006601", "id": "NP_006601" } ], "function": [ { "annotation": "Ficolin-3 and MASP-2 gene variants in Siberian arctic populations: Summarized evidence of selective pressure for the high frequency of lectin complement pathway deficiency.", "evidence": [ { "database": "RefSeq", "id": "NP_006601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006601" }, { "database": "PubMed", "id": "36574978", "url": "https://glygen.org/publication/PubMed/36574978" } ] }, { "annotation": "L-ficolin-MASP arm of the complement system in schizophrenia.", "evidence": [ { "database": "RefSeq", "id": "NP_006601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006601" }, { "database": "PubMed", "id": "36805857", "url": "https://glygen.org/publication/PubMed/36805857" } ] }, { "annotation": "MASP2 inhibition by narsoplimab suppresses endotheliopathies characteristic of transplant-associated thrombotic microangiopathy: in vitro and ex vivo evidence.", "evidence": [ { "database": "RefSeq", "id": "NP_006601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006601" }, { "database": "PubMed", "id": "37191586", "url": "https://glygen.org/publication/PubMed/37191586" } ] }, { "annotation": "Mannan-binding lectin serine protease-2 (MASP-2) in human kidney and its relevance for proteolytic activation of the epithelial sodium channel. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006601" }, { "database": "PubMed", "id": "36153401", "url": "https://glygen.org/publication/PubMed/36153401" } ] }, { "annotation": "Mannose-binding lectin gene 2 variant DD (rs 5030737) is associated with susceptibility to COVID-19 infection in the urban population of Patna City (India).", "evidence": [ { "database": "RefSeq", "id": "NP_006601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006601" }, { "database": "PubMed", "id": "37204457", "url": "https://glygen.org/publication/PubMed/37204457" } ] }, { "annotation": "Polymorphisms in MASP1 and MASP2 genes are associated with the susceptibility or protection to infectious diseases. (Review) Review article", "evidence": [ { "database": "RefSeq", "id": "NP_006601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006601" }, { "database": "PubMed", "id": "25862418", "url": "https://glygen.org/publication/PubMed/25862418" } ] }, { "annotation": "Serum protease that plays an important role in the activation of the complement system via mannose-binding lectin. After activation by auto-catalytic cleavage it cleaves C2 and C4, leading to their activation and to the formation of C3 convertase.", "evidence": [ { "database": "UniProtKB", "id": "O00187", "url": "https://www.uniprot.org/uniprot/O00187#function" }, { "database": "PubMed", "id": "10946292", "url": "https://glygen.org/publication/PubMed/10946292" } ] }, { "annotation": "This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is proteolytically processed to generate A and B chains that heterodimerize to form the mature protease. This protease cleaves complement components C2 and C4 in order to generate C3 convertase in the lectin pathway of the complement system. The encoded protease also plays a role in the coagulation cascade through cleavage of prothrombin to form thrombin. Myocardial infarction and acute stroke patients exhibit reduced serum concentrations of the encoded protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_006601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006601" } ] } ], "disease": [ { "disease_id": "MONDO:0013423", "recommended_name": { "id": "MONDO:0013423", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013423", "name": "immunodeficiency due to MASP-2 deficiency", "description": "Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic." }, "synonyms": [ { "id": "MONDO:0013423", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013423", "name": "immunodeficiency due to MASP-2 deficiency", "description": "" }, { "id": "MONDO:0013423", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013423", "name": "MASP2 deficiency", "description": "" }, { "id": "MONDO:0013423", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013423", "name": "lectin complement activation pathway, defect in, 2", "description": "" }, { "id": "MIM:613791", "resource": "MIM", "url": "https://www.omim.org/entry/613791", "name": "MASP2 deficiency", "description": "MASP2 deficiency" } ], "evidence": [ { "id": "613791", "database": "MIM", "url": "https://www.omim.org/entry/613791" } ] } ], "snv": [ { "evidence": [ { "id": "rs770349208", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770349208" }, { "id": "rs770349208", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770349208" }, { "id": "rs770349208", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770349208" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 114, "end_pos": 114, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DIT->NIT).", "chr_id": "1", "chr_pos": "11046628", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D114", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs565317971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565317971" }, { "id": "rs565317971", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565317971" }, { "id": "rs565317971", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs565317971#frequency_tab" }, { "id": "rs565317971", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs565317971" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 120, "end_pos": 120, "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DYS->NYS).", "chr_id": "1", "chr_pos": "11046610", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D120", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs770109242", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770109242" }, { "id": "rs770109242", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770109242" }, { "id": "rs770109242", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770109242#frequency_tab" }, { "id": "rs770109242", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770109242" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 178, "end_pos": 178, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKR->NKS).", "chr_id": "1", "chr_pos": "11045420", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R178", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1301802202", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1301802202" }, { "id": "rs1301802202", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1301802202" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 179, "end_pos": 179, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TCS->NCS).", "chr_id": "1", "chr_pos": "11045416", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T179", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00187", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00187" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 267, "end_pos": 267, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (IET->NET).", "chr_id": "1", "chr_pos": "11042964", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "I267", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of 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 kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "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", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1182505163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1182505163" }, { "id": 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"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DAS->NAS).", "chr_id": "1", "chr_pos": "11027475", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D491", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758215988", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758215988" }, { "id": "rs758215988", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758215988" }, { "id": "rs758215988", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758215988#frequency_tab" }, { "id": "rs758215988", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758215988" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 533, "end_pos": 533, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDI->NDT).", "chr_id": "1", "chr_pos": "11027348", 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O00187", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00187" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O00187", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00187" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00187" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"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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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O00187", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00187" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00187" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"categories": [ "Protein" ] }, { "id": "NP_006601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006601", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A8V8TP45", "url": "https://www.uniprot.org/uniprot/A0A8V8TP45", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TP45-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TP45-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TPA2", "url": "https://www.uniprot.org/uniprot/A0A8V8TPA2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TPA2-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TPA2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TPN3", "url": "https://www.uniprot.org/uniprot/A0A8V8TPN3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TPN3-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TPN3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TPN9", "url": "https://www.uniprot.org/uniprot/A0A8V8TPN9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TPN9-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TPN9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TPT6", "url": "https://www.uniprot.org/uniprot/A0A8V8TPT6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TPT6-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TPT6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TPU1", "url": "https://www.uniprot.org/uniprot/A0A8V8TPU1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TPU1-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TPU1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TQL2", "url": "https://www.uniprot.org/uniprot/A0A8V8TQL2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TQL2-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TQL2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TQL6", "url": "https://www.uniprot.org/uniprot/A0A8V8TQL6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TQL6-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TQL6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TQY3", "url": "https://www.uniprot.org/uniprot/A0A8V8TQY3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TQY3-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TQY3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TQY5", "url": "https://www.uniprot.org/uniprot/A0A8V8TQY5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TQY5-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TQY5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00187", "url": "https://www.uniprot.org/uniprot/O00187", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00187-1", "url": "https://www.uniprot.org/uniprot/O00187-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00187-2", "url": "https://www.uniprot.org/uniprot/O00187-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRLLTLLGLLCGSVATPLGPKWPEPVFGRLASPGFPGEYANDQERRWTLTAPPGYRLRLYFTHFDLELSHLCEYDFVKLSSGAKVLATLCGQESTDTERAPGKDTFYSLGSSLDITFRSDYSNEKPFTGFEAFYAAEDIDECQVAPGEAPTCDHHCHNHLGGFYCSCRAGYVLHRNKRTCSALCSGQVFTQRSGELSSPEYPRPYPKLSSCTYSISLEEGFSVILDFVESFDVETHPETLCPYDFLKIQTDREEHGPFCGKTLPHRIETKSNTVTITFVTDESGDHTGWKIHYTSTAQPCPYPMAPPNGHVSPVQAKYILKDSFSIFCETGYELLQGHLPLKSFTAVCQKDGSWDRPMPACSIVDCGPPDDLPSGRVEYITGPGVTTYKAVIQYSCEETFYTMKVNDGKYVCEADGFWTSSKGEKSLPVCEPVCGLSARTTGGRIYGGQKAKPGDFPWQVLILGGTTAAGALLYDNWVLTAAHAVYEQKHDASALDIRMGTLKRLSPHYTQAWSEAVFIHEGYTHDAGFDNDIALIKLNNKVVINSNITPICLPRKEAESFMRTDDIGTASGWGLTQRGFLARNLMYVDIPIVDHQKCTAAYEKPPYPRGSVTANMLCAGLESGGKDSCRGDSGGALVFLDSETERWFVGGIVSWGSMNCGEAGQYGVYTKVINYIPWIENIISDF", "length": 686, "header": "sp|O00187-1|MASP2_HUMAN Isoform 1 of Mannan-binding lectin serine protease 2 OS=Homo sapiens OX=9606 GN=MASP2 PE=1 SV=4 CANONICAL=O00187-1" }, "isoforms": [ { "isoform_ac": "A0A8V8TP45-1", "url": "", "sequence": { "sequence": "MRLLTLLGLLCGSVATPLGPKWPEPVFGRLASPGFPGEYANDQERRWTLTAPPGYRLRLYFTHFDLELSHLCEYDFVKLSSGAKVLATLCGQESTDTERAPGKDTFYSLGSSLDITFRSDYSNEKPFTGFEAFYAAEDIDECQVAPGEAPTCDHHCHNHLGGFYCSCRAGYVLHRNKRTCSALCSGQVFTQRSGELSSPEYPRPYPKLSSCTYSISLEEGFSVILDFVESFDVETHPETLCPYDFLKMNQETTQAGRSTTRAQPCPYPMAPPNGHVSPVQAKYILKDSFSIFCETGYELLQGHLPLKSFTAVCQKDGSWDRPMPACSIVDCGPPDDLPSGRVEYITGPGVTTYKAVIQYSCEETFYTMKVNDGKYVCEADGFWTSSKGEKSLPVCEPVCGLSARTTGGRIYGGQKAKPGDFPWQVLILGGTTAAGALLYDNWVLTAAHAVYEQKHDASALDIRMGTLKRLSPHYTQAWSEAVFIHEGYTHDAGFDNDIALIKLNNKVVINSNITPICLPRKEAESFMRTDDIGTASGWGLTQRGFLARNLMYVDIPIVDHQKCTAAYEKPPYPRGSVTANMLCAGLESGGKDSCRGDSGGALVFLDSETERWFVGGIVSWGSMNCGEAGQYGVYTKVINYIPWIENIISDF", "length": 651, "header": "tr|A0A8V8TP45-1|A0A8V8TP45_HUMAN Computationally mapped isoform of MBL associated serine protease 2 OS=Homo sapiens OX=9606 GN=MASP2 PE=1 SV=1 CANONICAL=O00187-1" }, "locus": { "chromosome": "1", "start_pos": 11047207, "end_pos": 11026888, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000699958.1", "url": "https://www.ensembl.org/id/ENST00000699958.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514717.1", "url": "https://www.ensembl.org/id/ENSP00000514717.1" } ] } }, { "isoform_ac": "A0A8V8TPA2-1", "url": "", "sequence": { "sequence": "MRLLTLLGLLCGSVATPLGPKWPEPVFGRLASPGFPGEYANDQERRWTLTAPPGYRLRLYFTHFDLELSHLCEYDFVKLSSGAKVLATLCGQESTDTERAPGKDTFYSLGSSLDITFRSDYSNEKPFTGFEAFYAAEDIDECQVAPGEAPTCDHHCHNHLGGFYCSCRAGYVLHRNKRTCSALCSGQVFTQRSGELSSPEYPRPYPKLSSCTYSISLEEGFSVILDFVESFDVETHPETLCPYDFLKIQTDREEHGPFCGKTLPHRIETKSNTVTITFVTDESGDHTGWKIHYTSTAQPCPYPMAPPNGHVSPVQAKYILKDSFSIFCETGYELLQGHLPLKSFTAVCQKDGSWDRPMPACSIVDCGPPDDLPSGRVEYITGPGVTTYKAVIQYSCEETFYTMKVNDGKYVCEADGFWTSSKGEKSLPVCEPEMPVKTLAATWLEKHSSLLWTWQLLLHPKKQTPGEAAVISPLASLIPALPIDSRGHKPRE", "length": 492, "header": "tr|A0A8V8TPA2-1|A0A8V8TPA2_HUMAN Computationally mapped isoform of MBL associated serine protease 2 OS=Homo sapiens OX=9606 GN=MASP2 PE=1 SV=1 CANONICAL=O00187-1" }, "locus": { "chromosome": "1", "start_pos": 11047207, "end_pos": 11026670, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700095.1", "url": "https://www.ensembl.org/id/ENST00000700095.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514794.1", "url": "https://www.ensembl.org/id/ENSP00000514794.1" } ] } }, { "isoform_ac": "A0A8V8TPN3-1", "url": "", "sequence": { "sequence": "MRLLTLLGLLCGSVATPLGPKWPEPVFGRLASPGFPGEYANDQERRWTLTAPPGYRLRLYFTHFDLELSHLCEYDFVKLSSGAKVLATLCGQESTDTERAPGKDTFYSLGSSLDITFRSDYSNEKPFTGFEAFYAAEDIDECQVAPGEAPTCDHHCHNHLGGFYCSCRAGYVLHRNKRTCSALCSGQVFTQRSGELSSPEYPRPYPKLSSCTYSISLEEGFSVILDFVESFDVETHPETLCPYDFLKIQTDREEHGPFCGKTLPHRIETKSNTVTITFVTDESGDHTGWKIHYTSTVVDCGPPDDLPSGRVEYITGPGVTTYKAVIQYSCEETFYTMKVNDGKYVCEADGFWTSSKGEKSLPVCEPVCGLSARTTGGRIYGGQKAKPGDFPWQVLILGGTTAAGALLYDNWVLTAAHAVYEQKHDASALDIRMGTLKRLSPHYTQAWSEAVFIHEGYTHDAGFDNDIALIKLNNKVVINSNITPICLPRKEAESFMRTDDIGTASGWGLTQRGFLARNLMYVDIPIVDHQKCTAAYEKPPYPRGSVTANMLCAGLESGGKDSCRGDSGGALVFLDSETERWFVGGIVSWGSMNCGEAGQYGVYTKVINYIPWIENIISDF", "length": 620, "header": "tr|A0A8V8TPN3-1|A0A8V8TPN3_HUMAN Computationally mapped isoform of MBL associated serine protease 2 OS=Homo sapiens OX=9606 GN=MASP2 PE=1 SV=1 CANONICAL=O00187-1" }, "locus": { "chromosome": "1", "start_pos": 11047207, "end_pos": 11026888, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700091.1", "url": "https://www.ensembl.org/id/ENST00000700091.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514790.1", "url": "https://www.ensembl.org/id/ENSP00000514790.1" } ] } }, { "isoform_ac": "A0A8V8TPN9-1", "url": "", "sequence": { "sequence": "MRLLTLLGLLCGSVATPLGPKWPEPVFGRLASPGFPGEYANDQERRWTLTAPPGYRLRLYFTHFDLELSHLCEYDFVKLSSGAKVLATLCGQESTDTERAPGKDTFYSLGSSLDITFRSDYSNEKPFTGFEAFYAAEDIDECQVAPGEAPTCDHHCHNHLGGFYCSCRAGYVLHRNKRTCSDSNRQRRTWPILWEDIAPQD", "length": 201, "header": "tr|A0A8V8TPN9-1|A0A8V8TPN9_HUMAN Computationally mapped isoform of MBL associated serine protease 2 OS=Homo sapiens OX=9606 GN=MASP2 PE=1 SV=1 CANONICAL=O00187-1" }, "locus": { "chromosome": "1", "start_pos": 11047207, "end_pos": 11042964, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700090.1", "url": "https://www.ensembl.org/id/ENST00000700090.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514789.1", "url": "https://www.ensembl.org/id/ENSP00000514789.1" } ] } }, { "isoform_ac": "A0A8V8TPT6-1", "url": "", "sequence": { "sequence": "MRLLTLLGLLCGSVATPLGPKWPEPVFGRLASPGFPGEYANDQERRWTLTAPPGYRLRLYFTHFDLELSHLCEYDFVKLSSGAKVLATLCGQESTDTERAPGKDTFYSLGSSLDITFRSDYSNEKPFTGFEAFYAAEDIDECQVAPGEAPTCDHHCHNHLGGFYCSCRAGYVLHRNKRTCSALCSGQVFTQRSGELSSPEYPRPYPKLSSCTYSISLEEGFSVILDFVESFDVETHPETLCPYDFLKIQTDREEHGPFCGKTLPHRIETKSNTVTITFVTDESGDHTGWKIHYTSTAQPCPYPMAPPNGHVSPVQAKYILKDSFSIFCETGYELLQGHLPLKSFTAVCQKDGSWDRPMPACSIVDCGPPDDLPSGRVEYITGPGVTTYKAVIQYSCEETFYTMKVNDGKYVCEADGFWTSSKGEKSLPVCEPEMPVKTLAATWLEKHSSLLWTWQLLLHPKKQTPGSALDI", "length": 471, "header": "tr|A0A8V8TPT6-1|A0A8V8TPT6_HUMAN Computationally mapped isoform of MBL associated serine protease 2 OS=Homo sapiens OX=9606 GN=MASP2 PE=1 SV=1 CANONICAL=O00187-1" }, "locus": { "chromosome": "1", "start_pos": 11047207, "end_pos": 11022177, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700088.1", "url": "https://www.ensembl.org/id/ENST00000700088.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514787.1", "url": "https://www.ensembl.org/id/ENSP00000514787.1" } ] } }, { "isoform_ac": "A0A8V8TPU1-1", "url": "", "sequence": { "sequence": "MRLLTLLGLLCGSVATPLGPKWPEPVFGRLASPGFPGEYANDQERRWTLTAPPGYRLRLYFTHFDLELSHLCEYDFVKLSSGAKVLATLCGQESTDTERAPGKDTFYSLGSSLDITFRSDYSNEKPFTGFEAFYAAEDIDECQVAPGEAPTCDHHCHNHLGGFYCSCRAGYVLHRNKRTCSALCSGQVFTQRSGELSSPEYPRPYPKLSSCTYSISLEEGFSVILDFVESFDVETHPETLCPYDFLKMNQETTQAGRSTTRAQNFRWLDSVLAAVDHMKTNKPGFLCAAQPCPYPMAPPNGHVSPVQAKYILKDSFSIFCETGYELLQGHLPLKSFTAVCQKDGSWDRPMPACSIVDCGPPDDLPSGRVEYITGPGVTTYKAVIQYSCEETFYTMKVNDGKYVCEADGFWTSSKGEKSLPVCEPVCGLSARTTGGRIYGGQKAKPGDFPWQVLILGGTTAAGALLYDNWVLTAAHAVYEQKHDASALDIRMGTLKRLSPHYTQAWSEAVFIHEGYTHDAGFDNDIALIKLNNKVVINSNITPICLPRKEAESFMRTDDIGTASGWGLTQRGFLARNLMYVDIPIVDHQKCTAAYEKPPYPRGSVTANMLCAGLESGGKDSCRGDSGGALVFLDSETERWFVGGIVSWGSMNCGEAGQYGVYTKVINYIPWIENIISDF", "length": 678, "header": "tr|A0A8V8TPU1-1|A0A8V8TPU1_HUMAN Computationally mapped isoform of MBL associated serine protease 2 OS=Homo sapiens OX=9606 GN=MASP2 PE=1 SV=1 CANONICAL=O00187-1" }, "locus": { "chromosome": "1", "start_pos": 11047207, "end_pos": 11026888, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700093.1", "url": "https://www.ensembl.org/id/ENST00000700093.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514792.1", "url": "https://www.ensembl.org/id/ENSP00000514792.1" } ] } }, { "isoform_ac": "A0A8V8TQL2-1", "url": "", "sequence": { "sequence": "MRLLTLLGLLCGSVATPLGPKWPEPVFGRLASPGFPGEYANDQERRWTLTAPPGYRLRLYFTHFDLELSHLCEYDFVKLSSGAKVLATLCGQESTDTERAPGKDTFYSLGSSLDITFRSDYSNEKPFTGFEAFYAAEDIDECQVAPGEAPTCDHHCHNHLGGFYCSCRAGYVLHRNKRTCSALCSGQVFTQRSGELSSPEYPRPYPKLSSCTYSISLEEGFSVILDFVESFDVETHPETLCPYDFLKIQTDREEHGPFCGKTLPHRIETKSNTVTITFVTDESGDHTGWKIHYTSTAQPCPYPMAPPNGHVSPVQAKYILKDSFSIFCETGYELLQGHLPLKSFTAVCQKDGSWDRPMPACSSTVVCGRVEYITGPGVTTYKAVIQYSCEETFYTMKVNDGKYVCEADGFWTSSKGEKSLPVCEPVCGLSARTTGGRIYGGQKAKPGDFPWQVLILGGTTAAGALLYDNWVLTAAHAVYEQKHDASALDIRMGTLKRLSPHYTQAWSEAVFIHEGYTHDAGFDNDIALIKLNNKVVINSNITPICLPRKEAESFMRTDDIGTASGWGLTQRGFLARNLMYVDIPIVDHQKCTAAYEKPPYPRGSVTANMLCAGLESGGKDSCRGDSGGALVFLDSETERWFVGGIVSWGSMNCGEAGQYGVYTKVINYIPWIENIISDF", "length": 679, "header": "tr|A0A8V8TQL2-1|A0A8V8TQL2_HUMAN Computationally mapped isoform of MBL associated serine protease 2 OS=Homo sapiens OX=9606 GN=MASP2 PE=1 SV=1 CANONICAL=O00187-1" }, "locus": { "chromosome": "1", "start_pos": 11047207, "end_pos": 11026888, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700092.1", "url": "https://www.ensembl.org/id/ENST00000700092.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514791.1", "url": "https://www.ensembl.org/id/ENSP00000514791.1" } ] } }, { "isoform_ac": "A0A8V8TQL6-1", "url": "", "sequence": { "sequence": "MRLLTLLGLLCGSVATPLGPKWPEPVFGRLASPGFPGEYANDQERRWTLTAPPGYRLRLYFTHFDLELSHLCEYDFVKLSSGAKVLATLCGQESTDTERAPGKDTFYSLGSSLDITFRSDYSNEKPFTGFEAFYAAEDIDECQVAPGEAPTCDHHCHNHLGGFYCSCRAGYVLHRNKRTCSALCSGQVFTQRSGELSSPEYPRPYPKLSSCTYSISLEEGFSVILDFVESFDVETHPETLCPYDFLKIQTDREEHGPFCGKTLPHRIETKSNTVTITFVTDESGDHTGWKIHYTSTAQPCPYPMAPPNGHVSPVQAKYILKDSFSIFCETGYELLQGHLPLKSFTAVCQKDGSWDRPMPACSIVDCGPPDDLPSGRVEYITGPGVTTYKAVIQYSCEETFYTMKVNDGKYVCEADGFWTSSKGEKSLPVCEPGNGYIYTRDCLWTISPHNRRAYIWRAKGKTW", "length": 463, "header": "tr|A0A8V8TQL6-1|A0A8V8TQL6_HUMAN Computationally mapped isoform of MBL associated serine protease 2 OS=Homo sapiens OX=9606 GN=MASP2 PE=1 SV=1 CANONICAL=O00187-1" }, "locus": { "chromosome": "1", "start_pos": 11047207, "end_pos": 11027585, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700097.1", "url": "https://www.ensembl.org/id/ENST00000700097.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514796.1", "url": "https://www.ensembl.org/id/ENSP00000514796.1" } ] } }, { "isoform_ac": "A0A8V8TQY3-1", "url": "", "sequence": { "sequence": "MRLLTLLGLLCGSVATPLGPKWPEPVFGRLASPGFPGEYANDQERRWTLTAPPGYRLRLYFTHFDLELSHLCEYDFVKLSSGAKVLATLCGQESTDTERAPGKDTFYSLGSSLDITFRSDYSNEKPFTGFEAFYAAEDIDECQVAPGEAPTCDHHCHNHLGGFYCSCRAGYVLHRNKRTCSALCSGQVFTQRSGELSSPEYPRPYPKLSSCTYSISLEEGFSVILDFVESFDVETHPETLCPYDFLKIQTDREEHGPFCGKTLPHRIETKSNTVTITFVTDESGDHTGWKIHYTSTELQMARFSLGCCRPHENQQAWFPLRSAALPLSDGAT", "length": 332, "header": "tr|A0A8V8TQY3-1|MASP2_HUMAN Computationally mapped isoform of Mannan-binding lectin serine protease 2 OS=Homo sapiens OX=9606 GN=MASP2 PE=1 SV=1 CANONICAL=O00187-1" }, "locus": { "chromosome": "1", "start_pos": 11047207, "end_pos": 11037781, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700089.1", "url": "https://www.ensembl.org/id/ENST00000700089.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514788.1", "url": "https://www.ensembl.org/id/ENSP00000514788.1" } ] } }, { "isoform_ac": "A0A8V8TQY5-1", "url": "", "sequence": { "sequence": "MRLLTLLGLLCGSVATPLGPKWPEPVFGRLASPGFPGEYANDQERRWTLTAPPGYRLRLYFTHFDLELSHLCEYDFVKLSSGAKVLATLCGQESTDTERAPGKDTFYSLGSSLDITFRSDYSNEKPFTGFEAFYAAEDIDECQVAPGEAPTCDHHCHNHLGGFYCSCRAGYVLHRNKRTCSALCSGQVFTQRSGELSSPEYPRPYPKLSSCTYSISLEEGFSVILDFVESFDVETHPETLCPYDFLKIQTDREEHGPFCGKTLPHRIETKSNTVTITFVTDESGDHTGWKIHYTSTALPLSDGAT", "length": 305, "header": "tr|A0A8V8TQY5-1|A0A8V8TQY5_HUMAN Computationally mapped isoform of MBL associated serine protease 2 OS=Homo sapiens OX=9606 GN=MASP2 PE=1 SV=1 CANONICAL=O00187-1" }, "locus": { "chromosome": "1", "start_pos": 11047207, "end_pos": 11037781, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700094.1", "url": "https://www.ensembl.org/id/ENST00000700094.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514793.1", "url": "https://www.ensembl.org/id/ENSP00000514793.1" } ] } }, { "isoform_ac": "O00187-1", "url": "", "sequence": { "sequence": "MRLLTLLGLLCGSVATPLGPKWPEPVFGRLASPGFPGEYANDQERRWTLTAPPGYRLRLYFTHFDLELSHLCEYDFVKLSSGAKVLATLCGQESTDTERAPGKDTFYSLGSSLDITFRSDYSNEKPFTGFEAFYAAEDIDECQVAPGEAPTCDHHCHNHLGGFYCSCRAGYVLHRNKRTCSALCSGQVFTQRSGELSSPEYPRPYPKLSSCTYSISLEEGFSVILDFVESFDVETHPETLCPYDFLKIQTDREEHGPFCGKTLPHRIETKSNTVTITFVTDESGDHTGWKIHYTSTAQPCPYPMAPPNGHVSPVQAKYILKDSFSIFCETGYELLQGHLPLKSFTAVCQKDGSWDRPMPACSIVDCGPPDDLPSGRVEYITGPGVTTYKAVIQYSCEETFYTMKVNDGKYVCEADGFWTSSKGEKSLPVCEPVCGLSARTTGGRIYGGQKAKPGDFPWQVLILGGTTAAGALLYDNWVLTAAHAVYEQKHDASALDIRMGTLKRLSPHYTQAWSEAVFIHEGYTHDAGFDNDIALIKLNNKVVINSNITPICLPRKEAESFMRTDDIGTASGWGLTQRGFLARNLMYVDIPIVDHQKCTAAYEKPPYPRGSVTANMLCAGLESGGKDSCRGDSGGALVFLDSETERWFVGGIVSWGSMNCGEAGQYGVYTKVINYIPWIENIISDF", "length": 686, "header": "sp|O00187-1|MASP2_HUMAN Isoform 1 of Mannan-binding lectin serine protease 2 OS=Homo sapiens OX=9606 GN=MASP2 PE=1 SV=4 CANONICAL=O00187-1" }, "locus": { "chromosome": "1", "start_pos": 11047207, "end_pos": 11026888, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000400897.8", "url": "https://www.ensembl.org/id/ENST00000400897.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000383690.3", "url": "https://www.ensembl.org/id/ENSP00000383690.3" } ] } }, { "isoform_ac": "O00187-2", "url": "", "sequence": { "sequence": "MRLLTLLGLLCGSVATPLGPKWPEPVFGRLASPGFPGEYANDQERRWTLTAPPGYRLRLYFTHFDLELSHLCEYDFVKLSSGAKVLATLCGQESTDTERAPGKDTFYSLGSSLDITFRSDYSNEKPFTGFEAFYAAEDIDECQVAPGEAPTCDHHCHNHLGGFYCSCRAGYVLHRNKRTCSEQSL", "length": 185, "header": "sp|O00187-2|MASP2_HUMAN Isoform 2 of Mannan-binding lectin serine protease 2 OS=Homo sapiens OX=9606 GN=MASP2 PE=1 SV=4 CANONICAL=O00187-1" }, "locus": { "chromosome": "1", "start_pos": 11047207, "end_pos": 11044943, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000400898.3", "url": "https://www.ensembl.org/id/ENST00000400898.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000383691.3", "url": "https://www.ensembl.org/id/ENSP00000383691.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 547, "start_aa": "Asn", "end_pos": 547, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn547", "evidence": [ { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] } ], "phosphorylation": [ { "start_pos": 197, "end_pos": 197, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by CK2", "evidence": [ { "database": "UniProtKB", "id": "A0A8V8TQL2", "url": "https://www.uniprot.org/uniprot/A0A8V8TQL2" }, { "database": "UniProtKB", "id": "A0A8V8TP45", "url": "https://www.uniprot.org/uniprot/A0A8V8TP45" }, { "database": "UniProtKB", "id": "A0A8V8TPN3", "url": "https://www.uniprot.org/uniprot/A0A8V8TPN3" }, { "database": "UniProtKB", "id": "A0A8V8TPU1", "url": "https://www.uniprot.org/uniprot/A0A8V8TPU1" } ], "site_lbl": "Ser197" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported" ], "publication": [ { "title": "Two constituents of the initiation complex of the mannan-binding lectin activation pathway of complement are encoded by a single structural gene.", "journal": "J. Immunol.", "date": "1999", "authors": "Stover CM, Thiel S, Thelen M, Lynch NJ, Vorup-Jensen T, Jensenius JC, Schwaeble WJ", "evidence": [ { "database": "UniProtKB", "id": "O00187", "url": "https://www.uniprot.org/uniprot/O00187" } ], "reference": [ { "type": "PubMed", "id": "10092804", "url": "https://glygen.org/publication/PubMed/10092804" } ] }, { "title": "A truncated form of mannose-binding lectin-associated serine protease (MASP)-2 expressed by alternative polyadenylation is a component of the lectin complement pathway.", "journal": "Int. Immunol.", "date": "1999", "authors": "Takahashi M, Endo Y, Fujita T, Matsushita M", "evidence": [ { "database": "UniProtKB", "id": "O00187", "url": "https://www.uniprot.org/uniprot/O00187" } ], "reference": [ { "type": "PubMed", "id": "10330290", "url": "https://glygen.org/publication/PubMed/10330290" } ] }, { "title": "Proteolytic activities of two types of mannose-binding lectin-associated serine protease.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2000", "authors": "Matsushita M, Thiel S, Jensenius JC, Terai I, Fujita T", "evidence": [ { "database": "UniProtKB", "id": "O00187", "url": "https://www.uniprot.org/uniprot/O00187" } ], "reference": [ { "type": "PubMed", "id": "10946292", "url": "https://glygen.org/publication/PubMed/10946292" } ] }, { "title": "The human gene for mannan-binding lectin-associated serine protease-2 (MASP-2), the effector component of the lectin route of complement activation, is part of a tightly linked gene cluster on chromosome 1p36.2-3.", "journal": "Genes and immunity", "date": "2001", "authors": "Stover C, Endo Y, Takahashi M, Lynch NJ, Constantinescu C, Vorup-Jensen T, Thiel S, Friedl H, Hankeln T, Hall R, Gregory S, Fujita T, Schwaeble W", "evidence": [ { "database": "UniProtKB", "id": "O00187", "url": "https://www.uniprot.org/uniprot/O00187" } ], "reference": [ { "type": "PubMed", "id": "11426320", "url": "https://glygen.org/publication/PubMed/11426320" } ] }, { "title": "Inherited deficiency of mannan-binding lectin-associated serine protease 2.", "journal": "The New England journal of medicine", "date": "2003", "authors": "Stengaard-Pedersen K, Thiel S, Gadjeva M, Moller-Kristensen M, Sorensen R, Jensen LT, Sjoholm AG, Fugger L, Jensenius JC", "evidence": [ { "database": "UniProtKB", "id": "O00187", "url": "https://www.uniprot.org/uniprot/O00187" } ], "reference": [ { "type": "PubMed", "id": "12904520", "url": "https://glygen.org/publication/PubMed/12904520" } ] }, { "title": "The X-ray structure of human mannan-binding lectin-associated protein 19 (MAp19) and its interaction site with mannan-binding lectin and L-ficolin.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Gregory LA, Thielens NM, Matsushita M, Sorensen R, Arlaud GJ, Fontecilla-Camps JC, Gaboriaud C", "evidence": [ { "database": "UniProtKB", "id": "O00187", "url": "https://www.uniprot.org/uniprot/O00187" } ], "reference": [ { "type": "PubMed", "id": "15117939", "url": "https://glygen.org/publication/PubMed/15117939" } ] }, { "title": "The structure of MBL-associated serine protease-2 reveals that identical substrate specificities of C1s and MASP-2 are realized through different sets of enzyme-substrate interactions.", "journal": "J. Mol. Biol.", "date": "2004", "authors": "Harmat Veronika, G\u00e1l P\u00e9ter, Kardos J\u00f3zsef, Szil\u00e1gyi Katalin, Ambrus G\u00e9za, V\u00e9gh Barbara, N\u00e1ray-Szab\u00f3 G\u00e1bor, Z\u00e1vodszky P\u00e9ter", "evidence": [ { "database": "UniProtKB", "id": "O00187", "url": "https://www.uniprot.org/uniprot/O00187" } ], "reference": [ { "type": "PubMed", "id": "15364579", "url": "https://glygen.org/publication/PubMed/15364579" } ] }, { "title": "Novel MASP2 variants detected among North African and Sub-Saharan individuals.", "journal": "Tissue antigens", "date": "2005", "authors": "Lozano F, Suarez B, Munoz A, Jensenius JC, Mensa J, Vives J, Horcajada JP", "evidence": [ { "database": "UniProtKB", "id": "O00187", "url": "https://www.uniprot.org/uniprot/O00187" } ], "reference": [ { "type": "PubMed", "id": "16029433", "url": "https://glygen.org/publication/PubMed/16029433" } ] }, { "title": "A true autoactivating enzyme. Structural insight into mannose-binding lectin-associated serine protease-2 activations.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Gal P, Harmat V, Kocsis A, Bian T, Barna L, Ambrus G, Vegh B, Balczer J, Sim RB, Naray-Szabo G, Zavodszky P", "evidence": [ { "database": "UniProtKB", "id": "O00187", "url": "https://www.uniprot.org/uniprot/O00187" } ], "reference": [ { "type": "PubMed", "id": "16040602", "url": "https://glygen.org/publication/PubMed/16040602" } ] }, { "title": "Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms.", "journal": "Genes and immunity", "date": "2007", "authors": "Thiel S, Steffensen R, Christensen IJ, Ip WK, Lau YL, Reason IJ, Eiberg H, Gadjeva M, Ruseva M, Jensenius JC", "evidence": [ { "database": "UniProtKB", "id": "O00187", "url": "https://www.uniprot.org/uniprot/O00187" } ], "reference": [ { "type": "PubMed", "id": "17252003", "url": "https://glygen.org/publication/PubMed/17252003" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "title": "MBL-associated serine proteases (MASPs) and infectious diseases.", "journal": "Molecular immunology", "date": "2015", "authors": "Beltrame MH, Boldt AB, Catarino SJ, Mendes HC, Boschmann SE, Goeldner I, Messias-Reason I", "evidence": [ { "database": "RefSeq", "id": "NP_006601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006601" } ], "reference": [ { "type": "PubMed", "id": "25862418", "url": "https://glygen.org/publication/PubMed/25862418" } ] }, { "title": "A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.", "journal": "Clin. Genet.", "date": "2015", "authors": "Srour M, Hamdan FF, Gan-Or Z, Labuda D, Nassif C, Oskoui M, Gana-Weisz M, Orr-Urtreger A, Rouleau GA, Michaud JL", "evidence": [ { "database": "UniProtKB", "id": "O00187", "url": "https://www.uniprot.org/uniprot/O00187" } ], "reference": [ { "type": "PubMed", "id": "25930971", "url": "https://glygen.org/publication/PubMed/25930971" } ] }, { "title": "Mannan-binding lectin serine protease-2 (MASP-2) in human kidney and its relevance for proteolytic activation of the epithelial sodium channel.", "journal": "Scientific reports", "date": "2022-09-24", "authors": "Zachar Rikke, Thiel Steffen, Hansen S\u00f8ren, Henriksen Maiken Lumby, Skjoedt Mikkel-Ole, Skjodt Karsten, Hamzaei Zohra, Madsen Kirsten, Lund Lars, Hummler Edith, Svenningsen Per, Jensen Boye Lagerbon", "evidence": [ { "database": "RefSeq", "id": "NP_006601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006601" } ], "reference": [ { "type": "PubMed", "id": "36153401", "url": "https://glygen.org/publication/PubMed/36153401" } ] }, { "title": "Ficoline-3 and MASP-2 gene variants in siberian arctic populations: SUMMARIZED Evidence of selective pressure for the high frequency of lectin complement pathway deficiency.", "journal": "Scandinavian journal of immunology", "date": "2022-12-27", "authors": "Tereshchenko Sergey Yu, Smolnikova Marina V, Freidin Maxim B", "evidence": [ { "database": "RefSeq", "id": "NP_006601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006601" } ], "reference": [ { "type": "PubMed", "id": "36574978", "url": "https://glygen.org/publication/PubMed/36574978" } ] }, { "title": "l-ficolin-MASP arm of the complement system in schizophrenia.", "journal": "Immunobiology", "date": "2023-03", "authors": "Mayilyan Karine R, Krarup Anders, Soghoyan Armen F, Jensenius Jens C, Sim Robert B", "evidence": [ { "database": "RefSeq", "id": "NP_006601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006601" } ], "reference": [ { "type": "PubMed", "id": "36805857", "url": "https://glygen.org/publication/PubMed/36805857" } ] }, { "title": "MASP2 inhibition by narsoplimab suppresses endotheliopathies characteristic of transplant-associated thrombotic microangiopathy: in vitro and ex vivo evidence.", "journal": "Clinical and experimental immunology", "date": "2023-07-21", "authors": "Elhadad Sonia, Redmond David, Huang Jenny, Tan Adrian, Laurence Jeffrey", "evidence": [ { "database": "RefSeq", "id": "NP_006601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006601" } ], "reference": [ { "type": "PubMed", "id": "37191586", "url": "https://glygen.org/publication/PubMed/37191586" } ] }, { "title": "Mannose-binding lectin gene 2 variant DD (rs 5030737) is associated with susceptibility to COVID-19 infection in the urban population of Patna City (India).", "journal": "Molecular genetics and genomics : MGG", "date": "2023-07", "authors": "Sharma Sadhana, Kumari Bandana, Ali Asgar, Patel Pankaj Kumar, Sharma Abhay Kumar, Nair Rathish, Singh Prabhat Kumar, Hajela Krishnan", "evidence": [ { "database": "RefSeq", "id": "NP_006601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006601" } ], "reference": [ { "type": "PubMed", "id": "37204457", "url": "https://glygen.org/publication/PubMed/37204457" } ] }, { "title": "Towards a comprehensive database of proteins from the urine of patients with bladder cancer.", "journal": "J. Urol.", "date": "1996", "authors": "Rasmussen H H, Orntoft T F, Wolf H, Celis J E", "evidence": [ { "database": "UniProtKB", "id": "O00187", "url": "https://www.uniprot.org/uniprot/O00187" } ], "reference": [ { "type": "PubMed", "id": "8618346", "url": "https://glygen.org/publication/PubMed/8618346" } ] }, { "title": "A second serine protease associated with mannan-binding lectin that activates complement.", "journal": "Nature", "date": "1997", "authors": "Thiel S, Vorup-Jensen T, Stover C M, Schwaeble W, Laursen S B, Poulsen K, Willis A C, Eggleton P, Hansen S, Holmskov U, Reid K B, Jensenius J C", "evidence": [ { "database": "UniProtKB", "id": "O00187", "url": "https://www.uniprot.org/uniprot/O00187" } ], "reference": [ { "type": "PubMed", "id": "9087411", "url": "https://glygen.org/publication/PubMed/9087411" } ] } ], "pathway": [ { "id": "hsa:10747", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10747", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q91WP0-1", "protein_name": "Mannan-binding lectin serine protease 2", "gene_name": "Masp2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MRLLIFLGLLWSLVATLLGSKWPEPVFGRLVSPGFPEKYADHQDRSWTLTAPPGYRLRLYFTHFDLELSYRCEYDFVKLSSGTKVLATLCGQESTDTEQAPGNDTFYSLGPSLKVTFHSDYSNEKPFTGFEAFYAAEDVDECRVSLGDSVPCDHYCHNYLGGYYCSCRAGYVLHQNKHTCSALCSGQVFTGRSGYLSSPEYPQPYPKLSSCTYSIRLEDGFSVILDFVESFDVETHPEAQCPYDSLKIQTDKGEHGPFCGKTLPPRIETDSHKVTITFATDESGNHTGWKIHYTSTARPCPDPTAPPNGSISPVQAIYVLKDRFSVFCKTGFELLQGSVPLKSFTAVCQKDGSWDRPMPECSIIDCGPPDDLPNGHVDYITGPEVTTYKAVIQYSCEETFYTMSSNGKYVCEADGFWTSSKGEKLPPVCEPVCGLSTHTIGGRIVGGQPAKPGDFPWQVLLLGQTTAAAGALIHDNWVLTAAHAVYEKRMAASSLNIRMGILKRLSPHYTQAWPEEIFIHEGYTHGAGFDNDIALIKLKNKVTINGSIMPVCLPRKEAASLMRTDFTGTVAGWGLTQKGLLARNLMFVDIPIADHQKCTAVYEKLYPGVRVSANMLCAGLETGGKDSCRGDSGGALVFLDNETQRWFVGGIVSWGSINCGAADQYGVYTKVINYIPWIENIISNF", "length": 685 }, "evidence": [ { "id": "45921881", "url": "http://www.informatics.jax.org/homology/45921881", "database": "MGI" }, { "id": "O00187", "url": "https://omabrowser.org/oma/group/O00187/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9JJS8-1", "protein_name": "Mannan-binding lectin serine protease 2", "gene_name": "Masp2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MRLLIVLGLLWSLVATLLGSKWPEPVFGRLVSLGFPEKYGNHQDRSWTLTAPPGFRLRLYFTHFNLELSYRCEYDFVKLTSGTKVLATLCGQESTDTERAPGNDTFYSLGPSLKVTFHSDYSNEKPFTGFEAFYAAEDVDECRTSLGDSVPCDHYCHNYLGGYYCSCRVGYILHQNKHTCSALCSGQVFTGRSGFLSSPEYPQPYPKLSSCAYNIRLEEGFSITLDFVESFDVEMHPEAQCPYDSLKIQTDKREYGPFCGKTLPPRIETDSNKVTITFTTDESGNHTGWKIHYTSTAQPCPDPTAPPNGHISPVQATYVLKDSFSVFCKTGFELLQGSVPLKSFTAVCQKDGSWDRPIPECSIIDCGPPDDLPNGHVDYITGPEVTTYKAVIQYSCEETFYTMSSNGKYVCEADGFWTSSKGEKSLPVCKPVCGLSTHTSGGRIIGGQPAKPGDFPWQVLLLGETTAAGALIHDDWVLTAAHAVYGKTEAMSSLDIRMGILKRLSLIYTQAWPEAVFIHEGYTHGAGFDNDIALIKLKNKVTINRNIMPICLPRKEAASLMKTDFVGTVAGWGLTQKGFLARNLMFVDIPIVDHQKCATAYTKQPYPGAKVTVNMLCAGLDRGGKDSCRGDSGGALVFLDNETQRWFVGGIVSWGSINCGGSEQYGVYTKVTNYIPWIENIINNF", "length": 685 }, "evidence": [ { "id": "45921881", "url": "http://www.informatics.jax.org/homology/45921881", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 7, "go_terms": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "O00187", "url": "https://www.uniprot.org/uniprot/O00187" } ], "pmid": "" }, { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "O00187", "url": "https://www.uniprot.org/uniprot/O00187" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O00187", "url": "https://www.uniprot.org/uniprot/O00187" } ], "pmid": "" }, { "name": "calcium-dependent protein binding", "id": "GO:0048306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048306", "evidence": [ { "database": "UniProtKB", "id": "O00187", "url": "https://www.uniprot.org/uniprot/O00187" } ], "pmid": "" }, { "name": "peptidase activity", "id": "GO:0008233", "url": 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