{ "uniprot_canonical_ac": "O43825-1", "uniprot_ac": "O43825", "uniprot_id": "B3GT2_HUMAN", "mass": { "chemical_mass": 49213.0, "monoisotopic_mass": 49213.0 }, "refseq": { "ac": "NP_003774", "name": "beta-1,3-galactosyltransferase 2", "summary": "This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene encodes a protein that functions in N-linked glycoprotein glycosylation and shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003774" }, "gene_names": [ { "name": "B3GALT2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43825", "id": "O43825" }, { "name": "B3GALT2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003774", "id": "NP_003774" }, { "name": "beta3Gal-T2; BETA3GALT2; GLCT2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003774", "id": "NP_003774" } ], "protein_names": [ { "name": "Beta-1,3-galactosyltransferase 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43825" }, { "name": "2.4.1.86", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43825" }, { "name": "Beta-1,3-GalTase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43825" }, { "name": "Beta3Gal-T2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43825" }, { "name": "Beta3GalT2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43825" }, { "name": "UDP-galactose:2-acetamido-2-deoxy-D-glucose 3beta-galactosyltransferase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43825" }, { "name": "beta-1,3-galactosyltransferase 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003774", "id": "NP_003774" }, { "name": "beta-3-galt2; beta-1,3-GalTase 2; UDP-galactose:2-acetamido-2-deoxy-D-glucose 3beta-galactosyltransferase 2; UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003774", "id": "NP_003774" } ], "function": [ { "annotation": "Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-N-acetylglucosamine (beta-GlcNAc) residue. Can also utilize substrates with a terminal galactose residue, albeit with lower efficiency. Involved in the biosynthesis of the carbohydrate moieties of glycolipids and glycoproteins. Inactive towards substrates with terminal alpha-N-acetylglucosamine (alpha-GlcNAc) or alpha-N-acetylgalactosamine (alpha-GalNAc) residues.", "evidence": [ { "database": "UniProtKB", "id": "O43825", "url": "https://www.uniprot.org/uniprot/O43825#function" }, { "database": "PubMed", "id": "9417100", "url": "https://glygen.org/publication/PubMed/9417100" }, { "database": "PubMed", "id": "9582303", "url": "https://glygen.org/publication/PubMed/9582303" } ] }, { "annotation": "This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene encodes a protein that functions in N-linked glycoprotein glycosylation and shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_003774", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003774" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs147537643", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147537643" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 100, "end_pos": 100, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->DNT).", "chr_id": "1", "chr_pos": "193181265", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N100", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43825", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43825" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 126, "end_pos": 126, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NEK->NET).", "chr_id": "1", "chr_pos": "193181186", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K126", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O43825", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43825" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 226, "end_pos": 226, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NLT->TLT).", "chr_id": "1", "chr_pos": "193180886", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N226", "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": "rs1572180687", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1572180687" }, { "id": "rs1572180687", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1572180687" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 72, "end_pos": 72, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SET->NET).", "chr_id": "1", "chr_pos": "193181348", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S72", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43825", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43825" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 77, "end_pos": 77, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "G", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NHS->NHG).", "chr_id": "1", "chr_pos": "193181334", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S77", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O43825", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43825" } ], "glycoeffect": [], "start_pos": 80, "end_pos": 80, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "193181325", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R80", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "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": "" }, { 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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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", 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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 - 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"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", 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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", 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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": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O43825", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43825" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O43825", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43825" } ], "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" } ] } ] }, { "significant": "No", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O43825", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43825" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43825", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43825" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O43825", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43825" } ], "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": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O43825", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43825" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O43825", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43825" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, 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"end_pos": 176, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn176", "evidence": [ { "id": "O43825", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43825#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 226, "start_aa": "Asn", "end_pos": 226, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn226", "evidence": [ { "id": "O43825", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43825#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 75, "start_aa": "Asn", "end_pos": 75, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn75", "evidence": [ { "id": "O43825", "database": "UniProtKB", "url": 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colorectal and pancreatic epithelia and tumor cells derived therefrom.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Isshiki S, Togayachi A, Kudo T, Nishihara S, Watanabe M, Kubota T, Kitajima M, Shiraishi N, Sasaki K, Andoh T, Narimatsu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "10212226", "url": "https://glygen.org/publication/PubMed/10212226" } ] }, { "title": "Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus.", "journal": "Genomics", "date": "2001", "authors": "Sood R, Bonner TI, Makalowska I, Stephan DA, Robbins CM, Connors TD, Morgenbesser SD, Su K, Faruque MU, Pinkett H, Graham C, Baxevanis AD, Klinger KW, Landes GM, Trent JM, Carpten JD", "evidence": [ { "database": "UniProtKB", "id": "O43825", "url": "https://www.uniprot.org/uniprot/O43825" } ], "reference": [ { "type": "PubMed", "id": "11318611", "url": "https://glygen.org/publication/PubMed/11318611" } ] }, { "title": "Fuc-TIX: a versatile alpha1,3-fucosyltransferase with a distinct acceptor- and site-specificity profile.", "journal": "Glycobiology", "date": "2002", "authors": "Toivonen S, Nishihara S, Narimatsu H, Renkonen O, Renkonen R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "12107078", "url": "https://glygen.org/publication/PubMed/12107078" } ] }, { "title": "The galactosyltransferase family.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2002", "authors": "Hennet T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "12222957", "url": "https://glygen.org/publication/PubMed/12222957" } ] }, { "title": "Molecular cloning, gene organization and expression of the human UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase responsible for the biosynthesis of the blood group Sda/Cad antigen: evidence for an unusual extended cytoplasmic domain.", "journal": "The Biochemical journal", "date": "2003", "authors": "Montiel MD, Krzewinski-Recchi MA, Delannoy P, Harduin-Lepers A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "12678917", "url": "https://glygen.org/publication/PubMed/12678917" } ] }, { "title": "Molecular cloning of the human beta1,4 N-acetylgalactosaminyltransferase responsible for the biosynthesis of the Sd(a) histo-blood group antigen: the sequence predicts a very long cytoplasmic domain.", "journal": "Journal of biochemistry", "date": "2003", "authors": "Lo Presti L, Cabuy E, Chiricolo M, Dall'Olio F", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "14688233", "url": "https://glygen.org/publication/PubMed/14688233" } ] }, { "title": "The discovery, biology, and drug development of sialyl Lea and sialyl Lex.", "journal": "Archives of biochemistry and biophysics", "date": "2004", "authors": "Magnani JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "15158662", "url": "https://glygen.org/publication/PubMed/15158662" } ] }, { "title": "The cloning and expression of a human alpha-1,3 fucosyltransferase capable of forming the E-selectin ligand.", "journal": "Biochemical and biophysical research communications", "date": "1992", "authors": "Koszdin KL, Bowen BR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "1520296", "url": "https://glygen.org/publication/PubMed/1520296" } ] }, { "title": "ELFT: a gene that directs the expression of an ELAM-1 ligand.", "journal": "Cell", "date": "1990", "authors": "Goelz SE, Hession C, Goff D, Griffiths B, Tizard R, Newman B, Chi-Rosso G, Lobb R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "1702034", "url": "https://glygen.org/publication/PubMed/1702034" } ] }, { "title": "Identification and expression of a sialyltransferase responsible for the synthesis of disialylgalactosylgloboside in normal and malignant kidney cells: downregulation of ST6GalNAc VI in renal cancers.", "journal": "The Biochemical journal", "date": "2007", "authors": "Senda M, Ito A, Tsuchida A, Hagiwara T, Kaneda T, Nakamura Y, Kasama K, Kiso M, Yoshikawa K, Katagiri Y, Ono Y, Ogiso M, Urano T, Furukawa K, Oshima S, Furukawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "17123352", "url": "https://glygen.org/publication/PubMed/17123352" } ] }, { "title": "Molecular cloning of a human fucosyltransferase gene that determines expression of the Lewis x and VIM-2 epitopes but not ELAM-1-dependent cell adhesion.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Lowe JB, Kukowska-Latallo JF, Nair RP, Larsen RD, Marks RM, Macher BA, Kelly RJ, Ernst LK", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "1716630", "url": "https://glygen.org/publication/PubMed/1716630" } ] }, { "title": "Isolation of a novel human alpha (1,3)fucosyltransferase gene and molecular comparison to the human Lewis blood group alpha (1,3/1,4)fucosyltransferase gene. Syntenic, homologous, nonallelic genes encoding enzymes with distinct acceptor substrate specificities.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Weston BW, Nair RP, Larsen RD, Lowe JB", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "1740457", "url": "https://glygen.org/publication/PubMed/1740457" } ] }, { "title": "Activity, splice variants, conserved peptide motifs, and phylogeny of two new alpha1,3-fucosyltransferase families (FUT10 and FUT11).", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Mollicone R, Moore SE, Bovin N, Garcia-Rosasco M, Candelier JJ, Martinez-Duncker I, Oriol R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "19088067", "url": "https://glygen.org/publication/PubMed/19088067" } ] }, { "title": "A cloned human cDNA determines expression of a mouse stage-specific embryonic antigen and the Lewis blood group alpha(1,3/1,4)fucosyltransferase.", "journal": "Genes & development", "date": "1990", "authors": "Kukowska-Latallo JF, Larsen RD, Nair RP, Lowe JB", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "1977660", "url": "https://glygen.org/publication/PubMed/1977660" } ] }, { "title": "B4GALNT2 gene expression controls the biosynthesis of Sda and sialyl Lewis X antigens in healthy and cancer human gastrointestinal tract.", "journal": "The international journal of biochemistry & cell biology", "date": "2014", "authors": "Groux-Degroote S, Wavelet C, Krzewinski-Recchi MA, Portier L, Mortuaire M, Mihalache A, Trinchera M, Delannoy P, Malagolini N, Chiricolo M, Dall'Olio F, Harduin-Lepers A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "24953560", "url": "https://glygen.org/publication/PubMed/24953560" } ] }, { "title": "Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransferase gene (FUT2). Homozygosity for an enzyme-inactivating nonsense mutation commonly correlates with the non-secretor phenotype.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Kelly RJ, Rouquier S, Giorgi D, Lennon GG, Lowe JB", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "7876235", "url": "https://glygen.org/publication/PubMed/7876235" } ] }, { "title": "Molecular cloning of a cDNA encoding a novel human leukocyte alpha-1,3-fucosyltransferase capable of synthesizing the sialyl Lewis x determinant.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Natsuka S, Gersten KM, Zenita K, Kannagi R, Lowe JB", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "8207002", "url": "https://glygen.org/publication/PubMed/8207002" } ] }, { "title": "Alpha (1,3/1,4)fucosyltransferase (FucT-III) gene is inactivated by a single amino acid substitution in Lewis histo-blood type negative individuals.", "journal": "Biochemical and biophysical research communications", "date": "1993", "authors": "Nishihara S, Yazawa S, Iwasaki H, Nakazato M, Kudo T, Ando T, Narimatsu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "8240337", "url": "https://glygen.org/publication/PubMed/8240337" } ] }, { "title": "Cloning of a novel alpha 2,3-sialyltransferase that sialylates glycoprotein and glycolipid carbohydrate groups.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Kitagawa H, Paulson JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "8288606", "url": "https://glygen.org/publication/PubMed/8288606" } ] }, { "title": "Cloning and expression of human Gal beta 1,3(4)GlcNAc alpha 2,3-sialyltransferase.", "journal": "Biochemical and biophysical research communications", "date": "1993", "authors": "Kitagawa H, Paulson JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "8333853", "url": "https://glygen.org/publication/PubMed/8333853" } ] }, { "title": "Structure and expression of the gene encoding secretor-type galactoside 2-alpha-L-fucosyltransferase (FUT2).", "journal": "European journal of biochemistry", "date": "1997", "authors": "Koda Y, Soejima M, Wang B, Kimura H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "9219535", "url": "https://glygen.org/publication/PubMed/9219535" } ] }, { "title": "Cloning of a human UDP-galactose:2-acetamido-2-deoxy-D-glucose 3beta-galactosyltransferase catalyzing the formation of type 1 chains.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Kolbinger F, Streiff MB, Katopodis AG", "evidence": [ { "database": "UniProtKB", "id": "O43825", "url": "https://www.uniprot.org/uniprot/O43825" } ], "reference": [ { "type": "PubMed", "id": "9417100", "url": "https://glygen.org/publication/PubMed/9417100" } ] }, { "title": "A family of human beta3-galactosyltransferases. Characterization of four members of a UDP-galactose:beta-N-acetyl-glucosamine/beta-nacetyl-galactosamine beta-1,3-galactosyltransferase family.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Amado M, Almeida R, Carneiro F, Levery SB, Holmes EH, Nomoto M, Hollingsworth MA, Hassan H, Schwientek T, Nielsen PA, Bennett EP, Clausen H", "evidence": [ { "database": "UniProtKB", "id": "O43825", "url": "https://www.uniprot.org/uniprot/O43825" }, { "database": "Reactome", "id": "R-HSA-9037629", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629" } ], "reference": [ { "type": "PubMed", "id": "9582303", "url": "https://glygen.org/publication/PubMed/9582303" } ] } ], "pathway": [ { "id": "hsa:8707", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8707", "resource": "KEGG Pathway" }, { "id": "R-HSA-9037629", "name": "Lewis blood group biosynthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9037629", "resource": "Reactome", "description": "Lewis blood group biosynthesis" } ], "orthologs": [ { "uniprot_canonical_ac": "D4A950-1", "protein_name": "Hexosyltransferase", "gene_name": "B3galt2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MLQWRRRHCCFAKMSWNAKRSLFRTHLMGVLSLVFLFAMFLFFNHHDWLPGRPGFKENPVTYTFRGFRSTKTETNQSSLRNIWKEVVPQTLRPQTATNSNNTELSPQGVTGLENTLSANGSIYNEKGTGHPNSYHFKYIINEPEKCQEKSPFLILLIAAEPGQIEARRAIRQTWGNETLAPGIQITRIFLLGISIKLNGYLQHAIQEESIQYHDIIQQEYLDTYYNLTIKTLMGMNWVATYCPHTPYVMKTDSDMFVNTEYLIHKLLKPDLPPRHNYFTGYLMRGYAPNRNKDSKWYMPPDLYPSERYPVFCSGTGYVFSGDLAEKIFKVSLGIRRLHLEDVYVGICLAKLRVDPVPPPNEFVFNHWRVSYSSCKYSHLITSHQFQPSELIKYWNHLQQNKHNACVNAAKEKAGRYRHRKLH", "length": 422 }, "evidence": [ { "id": "45930464", "url": "http://www.informatics.jax.org/homology/45930464", "database": "MGI" }, { "id": "O43825", "url": "https://omabrowser.org/oma/group/O43825/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "O54905-1", "protein_name": "Beta-1,3-galactosyltransferase 2", "gene_name": "B3galt2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLQWRRRHCCFAKMTWSPKRSLLRTPLTGVLSLVFLFAMFLFFNHHDWLPGRPGFKENPVTYTFRGFRSTKSETNHSSLRTIWKEVAPQTLRPHTASNSSNTELSPQGVTGLQNTLSANGSIYNEKGTGHPNSYHFKYIINEPEKCQEKSPFLILLIAAEPGQIEARRAIRQTWGNETLAPGIQIIRVFLLGISIKLNGYLQHAIQEESRQYHDIIQQEYLDTYYNLTIKTLMGMNWVATYCPHTPYVMKTDSDMFVNTEYLIHKLLKPDLPPRHNYFTGYLMRGYAPNRNKDSKWYMPPDLYPSERYPVFCSGTGYVFSGDLAEKIFKVSLGIRRLHLEDVYVGICLAKLRVDPVPPPNEFVFNHWRVSYSSCKYSHLITSHQFQPSELIKYWNHLQQNKHNACANAAKEKAGRYRHRKLH", "length": 422 }, "evidence": [ { "id": "45930464", "url": "http://www.informatics.jax.org/homology/45930464", "database": "MGI" }, { "id": "O43825", "url": "https://omabrowser.org/oma/group/O43825/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "O43825", "url": "https://www.uniprot.org/uniprot/O43825" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O43825", "url": "https://www.uniprot.org/uniprot/O43825" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "protein glycosylation", "id": "GO:0006486", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006486", "evidence": [ { "database": "UniProtKB", "id": "O43825", "url": "https://www.uniprot.org/uniprot/O43825" } ], "pmid": "" }, { "name": "protein O-linked glycosylation", "id": "GO:0006493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006493", "evidence": [ { "database": "UniProtKB", "id": "O43825", "url": "https://www.uniprot.org/uniprot/O43825" } ], "pmid": "" }, { "name": "galactosylceramide biosynthetic process", "id": "GO:0006682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006682", "evidence": [ { "database": "UniProtKB", "id": "O43825", "url": "https://www.uniprot.org/uniprot/O43825" } ], "pmid": "" }, { "name": "oligosaccharide biosynthetic process", "id": "GO:0009312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009312", "evidence": [ { "database": "UniProtKB", "id": "O43825", "url": "https://www.uniprot.org/uniprot/O43825" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity", "id": "GO:0008499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008499", "evidence": [ { "database": "UniProtKB", "id": "O43825", "url": "https://www.uniprot.org/uniprot/O43825" } ], "pmid": "" }, { "name": "glucosaminylgalactosylglucosylceramide beta-galactosyltransferase activity", "id": "GO:0047275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047275", "evidence": [ { "database": "UniProtKB", "id": "O43825", "url": "https://www.uniprot.org/uniprot/O43825" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 100, "end_pos": 102, "annotation": "n_glycosylation_sequon" }, { "start_pos": 119, "end_pos": 121, "annotation": "n_glycosylation_sequon" }, { "start_pos": 176, "end_pos": 178, "annotation": "n_glycosylation_sequon" }, { "start_pos": 226, "end_pos": 228, "annotation": "n_glycosylation_sequon" }, { "start_pos": 75, "end_pos": 77, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "16045", "name": "", "equation": "a beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + UDP-alpha-D-galactose = a beta-D-Gal-(1->3)-beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1')-Cer(d18:1(4E)) + H(+) + UDP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "D3ZPD8-1", "Q9Y5Z6-1", "O43825-1", "O54905-1", "O54904-1" ], "evidence": [ { "id": "16045", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/16045" } ] }, { "id": "41936", "name": "", "equation": "a neolactoside IV(3)-beta-GlcNAc-nLc4Cer(d18:1(4E)) + UDP-alpha-D-galactose = a neolactoside IV(3)-beta-[Gal-beta-(1->3)-GlcNAc]-nLc4Cer(d18:1(4E)) + H(+) + UDP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O43825-1", "O54905-1" ], "evidence": [ { "id": "41936", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/41936" } ] }, { "id": "53432", "name": "", "equation": "an N-acetyl-beta-D-glucosaminyl derivative + UDP-alpha-D-galactose = a beta-D-galactosyl-(1->3)-N-acetyl-beta-D-glucosaminyl derivative + H(+) + UDP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "D3ZPD8-1", "Q9Y5Z6-1", "O43825-1", "O54904-1", "O54905-1", "Q54QG0-1" ], "evidence": [ { "id": "53432", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/53432" } ] }, { "id": "R-HSA-9603989", "name": "B3GALTs transfer Gal to GlcNAc-1,3-Gal-R to form Type 1 chain", "equation": "", "summary": "The family of beta-1,3-galactosyltransferases (B3GALTs) transfer galactose (Gal) from UDP-alpha-D-galactose (UDP-Gal) to the \u03b21,3 position of substrates with a terminal beta-N-acetylglucosamine (\u03b2-GlcNAc) residue. B3GALTs are involved in the biosynthesis of the carbohydrate moieties of glycolipids and glycoproteins. Here, five members of this family (B3GALT1-5) can mediate the transfer of Gal to GlcNAc-\u03b21,3-Gal-R, the precursor to blood group Type 1 oligosaccharide chains found in bodily secretions (Amado et al. 1998, Isshiki et al. 1999; review Hennet 2002).", "cellular_location": "Golgi lumen, Golgi membrane", "input_participant_list": [ "R-ALL-9604808" ], "output_participant_list": [], "enzyme_list": [ "O43825-1", "Q9Y2C3-1", "Q9Y5Z6-1", "O96024-1" ], "evidence": [ { "id": "R-HSA-9603989", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603989" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-9604808", "participant_name": "GlcNAc-1,3-Gal-R [Golgi lumen]", "crossref": [ { "id": "140876", "database": "ChEBI", "url": "" }, { "id": "140876", "database": "ChEBI", "url": "" }, { "id": "140876", "database": "ChEBI", "url": "" }, { "id": "140876", "database": "ChEBI", "url": "" }, { "id": "140876", "database": "ChEBI", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "D3ZPD8", "gene_name": "B3galt1", "activity": [ { "ec_number": "2.4.1.-", "activity": "", "evidence": [ { "id": "D3ZPD8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZPD8" } ] } ] }, { "uniprot_ac": "O43825", "gene_name": "B3GALT2", "activity": [ { "ec_number": "2.4.1.86", "activity": "a beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + UDP-alpha-D-galactose = a beta-D-Gal-(1->3)-beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1')-Cer(d18:1(4E)) + H(+) + UDP.", "evidence": [ { "id": "O43825", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43825" } ] }, { "ec_number": "2.4.1.86", "activity": "", "evidence": [ { "id": "O43825", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43825" } ] } ] }, { "uniprot_ac": "O54904", "gene_name": "B3galt1", "activity": [ { "ec_number": "2.4.1.86", "activity": "a beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + UDP-alpha-D-galactose = a beta-D-Gal-(1->3)-beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1')-Cer(d18:1(4E)) + H(+) + UDP.", "evidence": [ { "id": "O54904", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54904" } ] }, { "ec_number": "2.4.1.86", "activity": "", "evidence": [ { "id": "O54904", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54904" } ] } ] }, { "uniprot_ac": "O54905", "gene_name": "B3galt2", "activity": [ { "ec_number": "2.4.1.86", "activity": "a beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + UDP-alpha-D-galactose = a beta-D-Gal-(1->3)-beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1')-Cer(d18:1(4E)) + H(+) + UDP.", "evidence": [ { "id": "O54905", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54905" } ] }, { "ec_number": "2.4.1.86", "activity": "", "evidence": [ { "id": "O54905", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54905" } ] } ] }, { "uniprot_ac": "O96024", "gene_name": "B3GALT4", "activity": [ { "ec_number": "2.4.1.62", "activity": "a ganglioside GM2 (d18:1(4E)) + UDP-alpha-D-galactose = a ganglioside GM1 (d18:1(4E)) + H(+) + UDP.", "evidence": [ { "id": "O96024", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O96024" } ] }, { "ec_number": "2.4.1.62", "activity": "", "evidence": [ { "id": "O96024", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O96024" } ] } ] }, { "uniprot_ac": "Q54QG0", "gene_name": "pgtA", "activity": [ { "ec_number": "2.4.1.-", "activity": "", "evidence": [ { "id": "Q54QG0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54QG0" } ] }, { "ec_number": "2.4.1.69", "activity": "a beta-D-Gal-(1->3)-beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1')-Cer(d18:1(4E)) + GDP-beta-L-fucose = alpha-L-fucosyl-(1->2)- beta-D-galactosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine + GDP + H(+).", "evidence": [ { "id": "Q54QG0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54QG0" } ] } ] }, { "uniprot_ac": "Q9Y2C3", "gene_name": "B3GALT5", "activity": [ { "ec_number": "2.4.1.-", "activity": "", "evidence": [ { "id": "Q9Y2C3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2C3" } ] } ] }, { "uniprot_ac": "Q9Y5Z6", "gene_name": "B3GALT1", "activity": [ { "ec_number": "2.4.1.86", "activity": "a beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + UDP-alpha-D-galactose = a beta-D-Gal-(1->3)-beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1')-Cer(d18:1(4E)) + H(+) + UDP.", "evidence": [ { "id": "Q9Y5Z6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y5Z6" } ] }, { "ec_number": "2.4.1.86", "activity": "", "evidence": [ { "id": "Q9Y5Z6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y5Z6" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [ { "glytoucan_ac": "G00320ZP", "type": "N-linked", "subtype": "Complex" }, { "glytoucan_ac": "G00371DJ", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G00569WM", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G00909PI", "type": "N-linked", "subtype": "Triantennary" }, { "glytoucan_ac": "G00982QD", "type": "N-linked", "subtype": "Other" }, { "glytoucan_ac": "G01034MJ", "type": "N-linked", "subtype": "Complex" }, { "glytoucan_ac": "G01097FM", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G01784XC", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G01801SZ", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G01922RI", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G02032MW", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G02296PF", "type": "N-linked", "subtype": "Triantennary" }, { "glytoucan_ac": "G02379AH", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G02562EQ", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G02582JY", "type": "N-linked", "subtype": "Complex" }, { "glytoucan_ac": "G03260OU", "type": "N-linked", "subtype": "Triantennary" }, { "glytoucan_ac": "G03393PF", "type": "N-linked", "subtype": "Complex" }, { "glytoucan_ac": "G03414KZ", "type": "N-linked", "subtype": "Triantennary" }, { "glytoucan_ac": "G03542TR", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G03644PT", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G03668AQ", "type": "N-linked", "subtype": "Tetraantennary" }, { "glytoucan_ac": "G03681UF", "type": "N-linked", "subtype": "Triantennary" }, { "glytoucan_ac": "G03770XP", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G03877AD", "type": "O-linked", "subtype": "Core 6" }, { "glytoucan_ac": "G03912QC", "type": "N-linked", "subtype": "Complex" }, { "glytoucan_ac": "G03975EI", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G04088QJ", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G04406VW", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G04512BK", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G04548YV", "type": "O-linked", "subtype": "Core 3" }, { "glytoucan_ac": "G04984PI", "type": "O-linked", "subtype": "Core 6" }, { "glytoucan_ac": "G05107KY", "type": "O-linked", "subtype": "Core 6" }, { "glytoucan_ac": "G05293CX", "type": "N-linked", "subtype": "Triantennary" }, { "glytoucan_ac": "G05339VD", "type": "N-linked", "subtype": "Core-fucosylated" }, { "glytoucan_ac": "G05378UG", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G05698FC", "type": "N-linked", "subtype": "Triantennary" }, { "glytoucan_ac": "G05767GS", "type": "O-linked", "subtype": "Core 4" }, { "glytoucan_ac": "G05784LD", "type": "O-linked", "subtype": "Core 2" }, { "glytoucan_ac": "G05801MA", 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"table_id": "snv", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", 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