{ "uniprot_canonical_ac": "P11226-1", "uniprot_ac": "P11226", "uniprot_id": "MBL2_HUMAN", "mass": { "chemical_mass": 26144.0, "monoisotopic_mass": 26144.0 }, "refseq": { "ac": "NP_000233", "name": "mannose-binding protein C precursor", "summary": "This gene encodes the soluble mannose-binding lectin or mannose-binding protein found in serum. The protein encoded belongs to the collectin family and is an important element in the innate immune system. The protein recognizes and binds to mannose and N-acetylglucosamine on many microorganisms, including bacteria, yeast, and viruses including influenza virus, HIV and SARS-CoV. This binding activates the classical complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases. [provided by RefSeq, Jun 2020].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000233" }, "gene_names": [ { "name": "MBL2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P11226", "id": "P11226" }, { "name": "COLEC1; HSMBPC; MBL; MBL2D; MBP; MBP-C; MBP1; MBPD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000233", "id": "NP_000233" }, { "name": "COLEC1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P11226", "id": "P11226" }, { "name": "MBL2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000233", "id": "NP_000233" }, { "name": "MBL", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P11226", "id": "P11226" } ], "protein_names": [ { "name": "Mannose-binding protein C", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P11226" }, { "name": "Collectin-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11226" }, { "name": "MBP-C", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11226" }, { "name": "MBP1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11226" }, { "name": "Mannan-binding protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11226" }, { "name": "Mannose-binding lectin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11226" }, { "name": "mannose-binding lectin (protein C) 2, soluble (opsonic defect); mannose-binding lectin 2, soluble (opsonic defect); mannose-binding protein C; mannan-binding lectin; collectin-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000233", "id": "NP_000233" }, { "name": "mannose-binding protein C precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000233", "id": "NP_000233" } ], "function": [ { "annotation": "Association between mannose binding lectin gene polymorphisms and clinical severity of COVID-19 in children.", "evidence": [ { "database": "RefSeq", "id": "NP_000233", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000233" }, { "database": "PubMed", "id": "37231213", "url": "https://glygen.org/publication/PubMed/37231213" } ] }, { "annotation": "Association of MBL2 gene polymorphisms and MBL levels with dilated cardiomyopathy in a Chinese Han population. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000233", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000233" }, { "database": "PubMed", "id": "38167099", "url": "https://glygen.org/publication/PubMed/38167099" } ] }, { "annotation": "Association of mannose binding lectin with chronic obstructive pulmonary disease susceptibility and its clinical outcomes.", "evidence": [ { "database": "RefSeq", "id": "NP_000233", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000233" }, { "database": "PubMed", "id": "37558798", "url": "https://glygen.org/publication/PubMed/37558798" } ] }, { "annotation": "Calcium-dependent lectin involved in innate immune defense (PubMed:35102342). Binds mannose, fucose and N-acetylglucosamine on different microorganisms and activates the lectin complement pathway. Binds to late apoptotic cells, as well as to apoptotic blebs and to necrotic cells, but not to early apoptotic cells, facilitating their uptake by macrophages. May bind DNA. Upon SARS coronavirus-2/SARS-CoV-2 infection, activates the complement lectin pathway which leads to the inhibition SARS-CoV-2 infection and a reduction of the induced inflammatory response (PubMed:35102342).", "evidence": [ { "database": "UniProtKB", "id": "P11226", "url": "https://www.uniprot.org/uniprot/P11226#function" }, { "database": "PubMed", "id": "14515269", "url": "https://glygen.org/publication/PubMed/14515269" }, { "database": "PubMed", "id": "35102342", "url": "https://glygen.org/publication/PubMed/35102342" } ] }, { "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_000233", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000233" }, { "database": "PubMed", "id": "37204457", "url": "https://glygen.org/publication/PubMed/37204457" } ] }, { "annotation": "Polymorphisms in the MBL2 gene are associated with the plasma levels of MBL and the cytokines IL-6 and TNF-alpha in severe COVID-19. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000233", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000233" }, { "database": "PubMed", "id": "37138871", "url": "https://glygen.org/publication/PubMed/37138871" } ] }, { "annotation": "This gene encodes the soluble mannose-binding lectin or mannose-binding protein found in serum. The protein encoded belongs to the collectin family and is an important element in the innate immune system. The protein recognizes and binds to mannose and N-acetylglucosamine on many microorganisms, including bacteria, yeast, and viruses including influenza virus, HIV and SARS-CoV. This binding activates the classical complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases. [provided by RefSeq, Jun 2020].", "evidence": [ { "database": "RefSeq", "id": "NP_000233", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000233" } ] } ], "disease": [ { "disease_id": "MONDO:0012488", "recommended_name": { "id": "MONDO:0012488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012488", "name": "hepatitis B virus, susceptibility to", "description": "" }, "synonyms": [ { "id": "MONDO:0012488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012488", "name": "hepatitis B virus infection, susceptibility to", "description": "" }, { "id": "MONDO:0012488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012488", "name": "hepatitis b virus, susceptibility to", "description": "" }, { "id": "MONDO:0012488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012488", "name": "HBV, resistance to", "description": "" }, { "id": "MONDO:0012488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012488", "name": "HBV, susceptibility to", "description": "" }, { "id": "MONDO:0012488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012488", "name": "Hepatitis B Virus, resistance to", "description": "" } ], "evidence": [ { "id": "610424", "database": "MIM", "url": "https://www.omim.org/entry/610424" } ] }, { "disease_id": "MONDO:0013714", "recommended_name": { "id": "MONDO:0013714", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013714", "name": "mannose-binding lectin deficiency", "description": "" }, "synonyms": [ { "id": "MONDO:0013714", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013714", "name": "mannose-binding lectin deficiency", "description": "" }, { "id": "MONDO:0013714", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013714", "name": "mannose-binding protein deficiency", "description": "" }, { "id": "MONDO:0013714", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013714", "name": "MBL deficiency", "description": "" }, { "id": "MONDO:0013714", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013714", "name": "MBL2 deficiency", "description": "" }, { "id": "MONDO:0013714", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013714", "name": "MBLD", "description": "" }, { "id": "MONDO:0013714", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013714", "name": "MBP deficiency", "description": "" }, { "id": "MONDO:0013714", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013714", "name": "lectin complement activation pathway, defect in, 1", "description": "" } ], "evidence": [ { "id": "614372", "database": "MIM", "url": "https://www.omim.org/entry/614372" } ] } ], "snv": [ { "evidence": [ { "id": "rs769015081", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769015081" }, { "id": "rs769015081", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769015081" }, { "id": "rs769015081", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769015081" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 216, "end_pos": 216, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NNA->NNT).", "chr_id": "10", "chr_pos": "52768238", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A216", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "39.74", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000165471", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165471" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000165471", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165471" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "27.66", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000165471", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165471" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000165471", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165471" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "43.79", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000165471", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165471" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "16.94", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000165471", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165471" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000165471", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165471" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "34.33", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000165471", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165471" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "29.58", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000165471", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165471" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000165471", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165471" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "94.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000165471", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165471" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "20.91", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000165471", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165471" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "24.99", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000165471", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165471" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P11226", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11226" } ], "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": "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": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P11226", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11226" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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deposition.", "journal": "Infection and immunity", "date": "2000", "authors": "Neth O, Jack DL, Dodds AW, Holzel H, Klein NJ, Turner MW", "evidence": [ { "database": "Reactome", "id": "R-HSA-166662", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166662" } ], "reference": [ { "type": "PubMed", "id": "10639434", "url": "https://glygen.org/publication/PubMed/10639434" } ] }, { "title": "Distinct pathways of mannan-binding lectin (MBL)- and C1-complex autoactivation revealed by reconstitution of MBL with recombinant MBL-associated serine protease-2.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2000", "authors": "Vorup-Jensen T, Petersen SV, Hansen AG, Poulsen K, Schwaeble W, Sim RB, Reid KB, Davis SJ, Thiel S, Jensenius JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-166662", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166662" } ], "reference": [ { "type": "PubMed", "id": "10925294", "url": "https://glygen.org/publication/PubMed/10925294" } ] }, { "title": "The mannan-binding lectin pathway of complement activation: biology and disease association.", "journal": "Molecular immunology", "date": "2001", "authors": "Petersen SV, Thiel S, Jensenius JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-166662", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166662" } ], "reference": [ { "type": "PubMed", "id": "11532276", "url": "https://glygen.org/publication/PubMed/11532276" } ] }, { "title": "PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates activation of NF-kappa B and caspase-1-dependent cytokine processing.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Wang L, Manji GA, Grenier JM, Al-Garawi A, Merriam S, Lora JM, Geddes BJ, Briskin M, DiStefano PS, Bertin J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9705671", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9705671" } ], "reference": [ { "type": "PubMed", "id": "12019269", "url": "https://glygen.org/publication/PubMed/12019269" } ] }, { "title": "Restricted polymorphisms of the mannose-binding lectin gene in a population of Papua New Guinea.", "journal": "Mutation research", "date": "2002", "authors": "Juliger S, Kremsner PG, Alpers MP, Reeder JC, Kun JF", "evidence": [ { "database": "UniProtKB", "id": "P11226", "url": "https://www.uniprot.org/uniprot/P11226" } ], "reference": [ { "type": "PubMed", "id": "12175909", "url": "https://glygen.org/publication/PubMed/12175909" } ] }, { "title": "The biological functions of MBL-associated serine proteases (MASPs).", "journal": "Immunobiology", "date": "2002", "authors": "Hajela K, Kojima M, Ambrus G, Wong KH, Moffatt BE, Ferluga J, Hajela S, Gal P, Sim RB", "evidence": [ { "database": "Reactome", "id": "R-HSA-166663", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166663" } ], "reference": [ { "type": "PubMed", "id": "12396008", "url": "https://glygen.org/publication/PubMed/12396008" } ] }, { "title": "IKKepsilon and TBK1 are essential components of the IRF3 signaling pathway.", "journal": "Nature immunology", "date": "2003", "authors": "Fitzgerald KA, McWhirter SM, Faia KL, Rowe DC, Latz E, Golenbock DT, Coyle AJ, Liao SM, Maniatis T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9705671", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9705671" } ], "reference": [ { "type": "PubMed", "id": "12692549", "url": "https://glygen.org/publication/PubMed/12692549" } ] }, { "title": "Cutting edge: Monarch-1: a pyrin/nucleotide-binding domain/leucine-rich repeat protein that controls classical and nonclassical MHC class I genes.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2003", "authors": "Williams KL, Taxman DJ, Linhoff MW, Reed W, Ting JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-9705671", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9705671" } ], "reference": [ { "type": "PubMed", "id": "12759408", "url": "https://glygen.org/publication/PubMed/12759408" } ] }, { "title": "Distinct and overlapping functions of allelic forms of human mannose binding protein.", "journal": "Nature genetics", "date": "1992", "authors": "Super M, Gillies SD, Foley S, Sastry K, Schweinle JE, Silverman VJ, Ezekowitz RA", "evidence": [ { "database": "UniProtKB", "id": "P11226", "url": "https://www.uniprot.org/uniprot/P11226" } ], "reference": [ { "type": "PubMed", "id": "1303250", "url": "https://glygen.org/publication/PubMed/1303250" } ] }, { "title": "High frequencies in African and non-African populations of independent mutations in the mannose binding protein gene.", "journal": "Human molecular genetics", "date": "1992", "authors": "Lipscombe RJ, Sumiya M, Hill AV, Lau YL, Levinsky RJ, Summerfield JA, Turner MW", "evidence": [ { "database": "UniProtKB", "id": "P11226", "url": "https://www.uniprot.org/uniprot/P11226" } ], "reference": [ { "type": "PubMed", "id": "1304173", "url": "https://glygen.org/publication/PubMed/1304173" } ] }, { "title": "C'1 ESTERASE EFFECT ON ACTIVITY AND PHYSICOCHEMICAL PROPERTIES OF THE FOURTH COMPONENT OF COMPLEMENT.", "journal": "The Journal of experimental medicine", "date": "1965", "authors": "MUELLER-EBERHARD HJ, LEPOW IH", "evidence": [ { "database": "Reactome", "id": "R-HSA-166663", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166663" } ], "reference": [ { "type": "PubMed", "id": "14280442", "url": "https://glygen.org/publication/PubMed/14280442" } ] }, { "title": "Mannose-binding lectin engagement with late apoptotic and necrotic cells.", "journal": "European journal of immunology", "date": "2003-10", "authors": "Nauta Alma J, Raaschou-Jensen Nicoline, Roos Anja, Daha Mohamed R, Madsen Hans O, Borrias-Essers Maria C, Ryder Lars P, Koch Claus, Garred Peter", "evidence": [ { "database": "UniProtKB", "id": "P11226", "url": "https://www.uniprot.org/uniprot/P11226" } ], "reference": [ { "type": "PubMed", "id": "14515269", "url": "https://glygen.org/publication/PubMed/14515269" } ] }, { "title": "Nucleic acid is a novel ligand for innate, immune pattern recognition collectins surfactant proteins A and D and mannose-binding lectin.", "journal": "J. 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Biol.", "date": "1994", "authors": "Sheriff S, Chang C Y, Ezekowitz R A", "evidence": [ { "database": "UniProtKB", "id": "P11226", "url": "https://www.uniprot.org/uniprot/P11226" } ], "reference": [ { "type": "PubMed", "id": "7634089", "url": "https://glygen.org/publication/PubMed/7634089" } ] }, { "title": "Structure and function of mannan-binding proteins isolated from human liver and serum.", "journal": "Journal of biochemistry", "date": "1994", "authors": "Kurata H, Sannoh T, Kozutsumi Y, Yokota Y, Kawasaki T", "evidence": [ { "database": "UniProtKB", "id": "P11226", "url": "https://www.uniprot.org/uniprot/P11226" } ], "reference": [ { "type": "PubMed", "id": "7982896", "url": "https://glygen.org/publication/PubMed/7982896" } ] }, { "title": "The reaction mechanism of the internal thioester in the human complement component C4.", "journal": "Nature", "date": "1996", "authors": "Dodds AW, Ren XD, Willis AC, Law SK", "evidence": [ { "database": "Reactome", "id": "R-HSA-166663", 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