{ "uniprot_canonical_ac": "O00757-1", "uniprot_ac": "O00757", "uniprot_id": "F16P2_HUMAN", "mass": { "chemical_mass": 36743.0, "monoisotopic_mass": 36743.0 }, "refseq": { "ac": "NP_003828", "name": "fructose-1,6-bisphosphatase isozyme 2", "summary": "This gene encodes a gluconeogenesis regulatory enzyme which catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003828" }, "gene_names": [ { "name": "FBP2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00757", "id": "O00757" }, { "name": "CORLK", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003828", "id": "NP_003828" }, { "name": "FBP2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003828", "id": "NP_003828" } ], "protein_names": [ { "name": "Fructose-1,6-bisphosphatase isozyme 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00757" }, { "name": "3.1.3.11", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00757" }, { "name": "D-fructose-1,6-bisphosphate 1-phosphohydrolase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00757" }, { "name": "FBPase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00757" }, { "name": "Muscle FBPase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00757" }, { "name": "fructose-1,6-bisphosphatase isozyme 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003828", "id": "NP_003828" }, { "name": "hexosediphosphatase; muscle FBPase; muscle fructose-bisphosphatase; FBPase 2; D-fructose-1,6-bisphosphate 1-phosphohydrolase 2; fructose-1,6-bisphosphatase 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003828", "id": "NP_003828" } ], "function": [ { "annotation": "Catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate in the presence of divalent cations and probably participates in glycogen synthesis from carbohydrate precursors, such as lactate.", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757#function" }, { "database": "PubMed", "id": "17350621", "url": "https://glygen.org/publication/PubMed/17350621" }, { "database": "PubMed", "id": "18214967", "url": "https://glygen.org/publication/PubMed/18214967" }, { "database": "PubMed", "id": "33977262", "url": "https://glygen.org/publication/PubMed/33977262" } ] }, { "annotation": "DNA methyltransferase 3a-induced hypermethylation of the fructose-1,6-bisphosphatase-2 promoter contributes to gastric carcinogenesis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003828", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003828" }, { "database": "PubMed", "id": "38183507", "url": "https://glygen.org/publication/PubMed/38183507" } ] }, { "annotation": "TRIM32 promotes oral squamous cell carcinoma progression by enhancing FBP2 ubiquitination and degradation.", "evidence": [ { "database": "RefSeq", "id": "NP_003828", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003828" }, { "database": "PubMed", "id": "37640002", "url": "https://glygen.org/publication/PubMed/37640002" } ] }, { "annotation": "The Reverse Warburg Effect is Associated with Fbp2-Dependent Hif1alpha Regulation in Cancer Cells Stimulated by Fibroblasts. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003828", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003828" }, { "database": "PubMed", "id": "31947613", "url": "https://glygen.org/publication/PubMed/31947613" } ] }, { "annotation": "The key role in strong AMP binding to muscle isozyme play K20, T177 and Q179.", "evidence": [ { "database": "RefSeq", "id": "NP_003828", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003828" }, { "database": "PubMed", "id": "16213487", "url": "https://glygen.org/publication/PubMed/16213487" } ] }, { "annotation": "This gene encodes a gluconeogenesis regulatory enzyme which catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_003828", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003828" } ] } ], "disease": [ { "disease_id": "MONDO:0859246", "recommended_name": { "id": "MONDO:0859246", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859246", "name": "leukodystrophy, childhood-onset, remitting", "description": "" }, "synonyms": [ { "id": "MIM:619864", "resource": "MIM", "url": "https://www.omim.org/entry/619864", "name": "Leukodystrophy, childhood-onset, remitting", "description": "Leukodystrophy, childhood-onset, remitting" } ], "evidence": [ { "id": "619864", "database": "MIM", "url": "https://www.omim.org/entry/619864" } ] } ], "snv": [ { "evidence": [ { "id": "O00757", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00757" } ], "glycoeffect": [], "start_pos": 50, "end_pos": 50, "subjects_tested": "87", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%). In dbSNP: rs765534622.", "chr_id": "9", "chr_pos": "94593578", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R50", "disease": [ { "disease_id": "DOID:1790", "recommended_name": { "id": "DOID:1790", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1790", "name": "malignant mesothelioma", "description": "A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs." }, "synonyms": [ { "id": "DOID:1790", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1790", "name": "Diffuse malignant Mesothelioma", "description": "" }, { "id": "DOID:1790", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1790", "name": "advanced malignant mesothelioma", "description": "" }, { "id": "DOID:1790", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1790", "name": "asbestos-related malignant mesothelioma", "description": "" }, { "id": "DOID:1790", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1790", "name": "malignant tumor of Mesothelium", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant mesothelioma", "description": "A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos." }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant mesothelial tumor", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant mesothelial tumour", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant mesothelioma", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant mesothelioma (disease)", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant neoplasm of mesothelium", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant neoplasm of the mesothelium", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant tumor of mesothelium", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant tumor of the mesothelium", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant tumour of mesothelium", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant tumour of the mesothelium", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "mesothelioma, malignant", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "mesothelioma, somatic", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "advanced malignant mesothelioma", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "asbestos-related malignant mesothelioma", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "diffuse malignant mesothelioma", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant mesothelial neoplasm", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "MESOM", "description": "" }, { "id": "MIM:156240", "resource": "MIM", "url": "https://www.omim.org/entry/156240", "name": "Mesothelioma, malignant", "description": "Mesothelioma, malignant" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 178, "end_pos": 178, "sequence_org": "T", "sequence_mut": "M", "comment": "Reduces sensitivity to AMP; when associated with E-21 and C-180.", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" }, { "database": "PubMed", "id": "16213487", "url": "https://glygen.org/publication/PubMed/16213487" } ] }, { "start_pos": 180, "end_pos": 180, "sequence_org": "Q", "sequence_mut": "C", "comment": "Reduces sensitivity to AMP; when associated with E-21 and M-178.", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" }, { "database": "PubMed", "id": "16213487", "url": "https://glygen.org/publication/PubMed/16213487" } ] }, { "start_pos": 1, "end_pos": 10, "sequence_org": "MTDRSPFETD", "sequence_mut": "", "comment": "Greatly reduces sensitivity to inhibition by AMP and Ca(2+) and activation by Mg(2+). Decreases binding to ALDOA.", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" }, { "database": "PubMed", "id": "18214967", "url": "https://glygen.org/publication/PubMed/18214967" } ] }, { "start_pos": 1, "end_pos": 1, "sequence_org": "M", "sequence_mut": "", "comment": "No effect on kinetic properties and interaction with ALDOA.", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" } ] }, { "start_pos": 1, "end_pos": 2, "sequence_org": "MT", "sequence_mut": "", "comment": "No effect on kinetic properties and interaction with ALDOA.", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" } ] }, { "start_pos": 1, "end_pos": 3, "sequence_org": "MTD", "sequence_mut": "", "comment": "No effect on kinetic properties but decreases binding to ALDOA.", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" } ] }, { "start_pos": 1, "end_pos": 4, "sequence_org": "MTDR", "sequence_mut": "", "comment": "Slightly reduces sensitivity to inhibition by AMP and Ca(2+) and activation by Mg(2+). Decreases binding to ALDOA.", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" } ] }, { "start_pos": 1, "end_pos": 5, "sequence_org": "MTDRS", "sequence_mut": "", "comment": "Reduces sensitivity to inhibition by AMP and Ca(2+) and activation by Mg(2+). Decreases binding to ALDOA.", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" } ] }, { "start_pos": 1, "end_pos": 6, "sequence_org": "MTDRSP", "sequence_mut": "", "comment": "Reduces sensitivity to inhibition by AMP and Ca(2+) and activation by Mg(2+). Decreases binding to ALDOA.", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" } ] }, { "start_pos": 1, "end_pos": 7, "sequence_org": "MTDRSPF", "sequence_mut": "", "comment": "Greatly reduces sensitivity to inhibition by AMP and Ca(2+) and activation by Mg(2+). Decreases binding to ALDOA.", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" } ] }, { "start_pos": 204, "end_pos": 204, "sequence_org": "K", "sequence_mut": "E", "comment": "Minor reduction in nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" } ] }, { "start_pos": 204, "end_pos": 208, "sequence_org": "KKKGK", "sequence_mut": "AAAGA", "comment": "Almost completely abolishes nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" }, { "database": "PubMed", "id": "19626708", "url": "https://glygen.org/publication/PubMed/19626708" } ] }, { "start_pos": 204, "end_pos": 208, "sequence_org": "KKKGK", "sequence_mut": "EEEGE", "comment": "Almost completely abolishes nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" }, { "database": "PubMed", "id": "19626708", "url": "https://glygen.org/publication/PubMed/19626708" } ] }, { "start_pos": 205, "end_pos": 205, "sequence_org": "K", "sequence_mut": "E", "comment": "Minor reduction in nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" } ] }, { "start_pos": 206, "end_pos": 206, "sequence_org": "K", "sequence_mut": "E", "comment": "Greatly reduces nuclear lozalization.", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" } ] }, { "start_pos": 208, "end_pos": 208, "sequence_org": "K", "sequence_mut": "E", "comment": "Significantly reduces nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" } ] }, { "start_pos": 21, "end_pos": 21, "sequence_org": "K", "sequence_mut": "E", "comment": "Reduces sensitivity to AMP; when associated with M-178 and C-180.", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" }, { "database": "PubMed", "id": "16213487", "url": "https://glygen.org/publication/PubMed/16213487" } ] }, { "start_pos": 33, "end_pos": 33, "sequence_org": "Q", "sequence_mut": "R", "comment": "Causes conformational change of N-terminal residues and decreased sensitivity towards AMP with lack of conversion to the inactive T-state in the presence of AMP.", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" } ] }, { "start_pos": 70, "end_pos": 70, "sequence_org": "E", "sequence_mut": "Q", "comment": "Greatly reduces affinity towards Ca(2+) and slightly reduces affinity towards Mg(2+).", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" }, { "database": "PubMed", "id": "17350621", "url": "https://glygen.org/publication/PubMed/17350621" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "48.91", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000130957", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130957" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "56.72", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000130957", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130957" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "84.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130957", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130957" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "67.16", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000130957", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130957" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "50.93", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000130957", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130957" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "51.97", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000130957", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130957" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "65.26", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000130957", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130957" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "43.8", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000130957", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130957" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "37.5", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000130957", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130957" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "62.66", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000130957", "url": 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"expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00757", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00757" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 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"https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00757", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00757" } ], "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": 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"MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the 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"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 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O00757", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00757" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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Fructose-1,6-bisphosphatase isozyme 2 OS=Homo sapiens OX=9606 GN=FBP2 PE=1 SV=2 CANONICAL=O00757-1" }, "isoforms": [ { "isoform_ac": "O00757-1", "url": "", "sequence": { "sequence": "MTDRSPFETDMLTLTRYVMEKGRQAKGTGELTQLLNSMLTAIKAISSAVRKAGLAHLYGIAGSVNVTGDEVKKLDVLSNSLVINMVQSSYSTCVLVSEENKDAIITAKEKRGKYVVCFDPLDGSSNIDCLASIGTIFAIYRKTSEDEPSEKDALQCGRNIVAAGYALYGSATLVALSTGQGVDLFMLDPALGEFVLVEKDVKIKKKGKIYSLNEGYAKYFDAATTEYVQKKKFPEDGSAPYGARYVGSMVADVHRTLVYGGIFLYPANQKSPKGKLRLLYECNPVAYIIEQAGGLATTGTQPVLDVKPEAIHQRVPLILGSPEDVQEYLTCVQKNQAGS", "length": 339, "header": "sp|O00757-1|F16P2_HUMAN Isoform 1 of Fructose-1,6-bisphosphatase isozyme 2 OS=Homo sapiens OX=9606 GN=FBP2 PE=1 SV=2 CANONICAL=O00757-1" }, "locus": { "chromosome": "9", "start_pos": 94593726, "end_pos": 94558941, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000375337.4", "url": "https://www.ensembl.org/id/ENST00000375337.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000364486.3", "url": "https://www.ensembl.org/id/ENSP00000364486.3" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 216, "end_pos": 216, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" }, { "database": "phospho.ELM", "id": "O00757", "url": "http://phospho.elm.eu.org/byAccession/O00757.html" }, { "database": "iPTMnet", "id": "O00757", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00757" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ], "site_lbl": "Tyr216" }, { "start_pos": 219, "end_pos": 219, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" } ], "site_lbl": "Tyr219" }, { "start_pos": 256, "end_pos": 256, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00757", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00757" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Thr256" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Structure, function and regulation of pyruvate carboxylase.", "journal": "The Biochemical journal", "date": "1999", "authors": "Jitrapakdee S, Wallace JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10229653", "url": "https://glygen.org/publication/PubMed/10229653" } ] }, { "title": "The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.", "journal": "Nature genetics", "date": "1999", "authors": "Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, Yasuda T, Ikeda S, Hirano R, Terazono H, Crackower MA, Kondo I, Tsui LC, Scherer SW, Saheki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10369257", "url": "https://glygen.org/publication/PubMed/10369257" } ] }, { "title": "Organization and sequence of the gene for the human mitochondrial dicarboxylate carrier: evolution of the carrier family.", "journal": "The Biochemical journal", "date": "1999", "authors": "Fiermonte G, Dolce V, Arrigoni R, Runswick MJ, Walker JE, Palmieri F", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10585886", "url": "https://glygen.org/publication/PubMed/10585886" } ] }, { "title": "Characterization of a second member of the subfamily of calcium-binding mitochondrial carriers expressed in human non-excitable tissues.", "journal": "The Biochemical journal", "date": "2000", "authors": "Del Arco A, Agudo M, Satrustegui J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10642534", "url": "https://glygen.org/publication/PubMed/10642534" } ] }, { "title": "Human glyceraldehyde 3-phosphate dehydrogenase-2 gene is expressed specifically in spermatogenic cells.", "journal": "Journal of andrology", "date": "2000", "authors": "Welch JE, Brown PL, O'Brien DA, Magyar PL, Bunch DO, Mori C, Eddy EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10714828", "url": "https://glygen.org/publication/PubMed/10714828" } ] }, { "title": "Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis.", "journal": "Annals of neurology", "date": "2001", "authors": "Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S, Keller A, Ciscato P, Galbiati S, Chiveri L, Torrente Y, Scarlato G, Bresolin N", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "11506403", "url": "https://glygen.org/publication/PubMed/11506403" } ] }, { "title": "Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria.", "journal": "The EMBO journal", "date": "2001", "authors": "Palmieri L, Pardo B, Lasorsa FM, del Arco A, Kobayashi K, Iijima M, Runswick MJ, Walker JE, Saheki T, Satrustegui J, Palmieri F", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "11566871", "url": "https://glygen.org/publication/PubMed/11566871" } ] }, { "title": "Crystal structure of human cytosolic phosphoenolpyruvate carboxykinase reveals a new GTP-binding site.", "journal": "Journal of molecular biology", "date": "2002", "authors": "Dunten P, Belunis C, Crowther R, Hollfelder K, Kammlott U, Levin W, Michel H, Ramsey GB, Swain A, Weber D, Wertheimer SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "11851336", "url": "https://glygen.org/publication/PubMed/11851336" } ] }, { "title": "Transport of phosphoenolpyruvate by the tricarboxylate transporting system in mammalian mitochondria.", "journal": "FEBS letters", "date": "1971", "authors": "Robinson BH", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "11945784", "url": "https://glygen.org/publication/PubMed/11945784" } ] }, { "title": "Effects of synthetic analogues of phosphoenolpyruvate on muscle and liver pyruvate kinase, muscle enolase, liver phosphoenolpyruvate carboxykinase and on the intra-/extra-mitochondrial tricarboxylic acid carrier transport system.", "journal": "FEBS letters", "date": "1971", "authors": "Soling HD, Walter U, Sauer H, Kleineke J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "11946196", "url": "https://glygen.org/publication/PubMed/11946196" } ] }, { "title": "The catalytic center of glucose-6-phosphatase. HIS176 is the nucleophile forming the phosphohistidine-enzyme intermediate during catalysis.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Ghosh A, Shieh JJ, Pan CJ, Sun MS, Chou JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "12093795", "url": "https://glygen.org/publication/PubMed/12093795" } ] }, { "title": "Expression and characterization of a human pyruvate carboxylase variant by retroviral gene transfer.", "journal": "The Biochemical journal", "date": "2003", "authors": "Carbone MA, Robinson BH", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "12437512", "url": "https://glygen.org/publication/PubMed/12437512" } ] }, { "title": "Immunohistochemical localization of human fructose-1,6-bisphosphatase in subcellular structures of myocytes.", "journal": "Histol. Histopathol.", "date": "2003", "authors": "Gizak A, Rakus D, Dzugaj A", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" } ], "reference": [ { "type": "PubMed", "id": "12507293", "url": "https://glygen.org/publication/PubMed/12507293" } ] }, { "title": "Relationship of phosphoenolpyruvate transport, acyl coenzyme A inhibition of adenine nucleotide translocase and calcium ion efflux in guinea pig heart mitochondria.", "journal": "Archives of biochemistry and biophysics", "date": "1976", "authors": "Sul HS, Shrago E, Shug AL", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "1252077", "url": "https://glygen.org/publication/PubMed/1252077" } ] }, { "title": "Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency.", "journal": "Metabolic brain disease", "date": "2002", 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Kinetics of the external-product inhibition.", "journal": "European journal of biochemistry", "date": "1973", "authors": "Sluse FE, Goffart G, Liebecq C", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "4687397", "url": "https://glygen.org/publication/PubMed/4687397" } ] }, { "title": "Inhibition of phosphoenolpyruvate transport via the tricarboxylate and adenine nucleotide carrier systems of rat liver mitochondria.", "journal": "Biochemical and biophysical research communications", "date": "1973", "authors": "Shug AL, Shrago E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "4716993", "url": "https://glygen.org/publication/PubMed/4716993" } ] }, { "title": "On the specificity of the tricarboxylate carrier system in rat liver mitochondria.", "journal": "FEBS letters", "date": "1973", "authors": "Kleineke J, Sauer H, Soling HD", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "4719206", "url": "https://glygen.org/publication/PubMed/4719206" } ] }, { "title": "Relationship between intracellular distribution of phosphoenolpyruvate carboxykinase, regulation of gluconeogenesis, and energy cost of glucose formation.", "journal": "European journal of biochemistry", "date": "1973", "authors": "Soling HD, Kleineke J, Willms B, Janson G, Kuhn A", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "4745729", "url": "https://glygen.org/publication/PubMed/4745729" } ] }, { "title": "Phosphoglycerate mutase isozyme marker for tissue differentiation in man.", "journal": "American journal of human genetics", "date": "1974", "authors": "Omenn GS, Cheung SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "4827367", "url": "https://glygen.org/publication/PubMed/4827367" } ] }, { "title": "Human phosphoglycerate kinase. I. Crystallization and characterization of normal enzyme.", "journal": "The Journal of biological chemistry", "date": "1972", "authors": "Yoshida A, Watanabe S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "5009693", "url": "https://glygen.org/publication/PubMed/5009693" } ] }, { "title": "Primary structure of human triosephosphate isomerase.", "journal": "The Journal of biological chemistry", "date": "1984", "authors": "Lu HS, Yuan PM, Gracy RW", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "6434534", "url": "https://glygen.org/publication/PubMed/6434534" } ] }, { "title": "Complete amino acid sequence of human phosphoglycerate kinase. Isolation and amino acid sequence of tryptic peptides.", "journal": "The Journal of biological chemistry", "date": "1980", "authors": "Huang IY, Rubinfien E, Yoshida A", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "6771269", "url": "https://glygen.org/publication/PubMed/6771269" } ] }, { "title": "Glyceraldehyde-3-phosphate dehydrogenase from human tissues.", "journal": "Methods in enzymology", "date": "1982", "authors": "Heinz F, Freimuller B", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "7144574", "url": "https://glygen.org/publication/PubMed/7144574" } ] }, { "title": "Complete amino acid sequence of human phosphoglycerate kinase. Cyanogen bromide peptides and complete amino acid sequence.", "journal": "The Journal of biological chemistry", "date": "1980", "authors": "Huang IY, Welch CD, Yoshida A", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "7391027", "url": "https://glygen.org/publication/PubMed/7391027" } ] }, { "title": "Citrate transport in liposomes reconstituted with triton extracts from mitochondria.", "journal": "Biochemical and biophysical research communications", "date": "1980", "authors": "Stipani I, Kramer R, Palmieri F, Klingenberg M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "7470147", "url": "https://glygen.org/publication/PubMed/7470147" } ] }, { "title": "Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.", "journal": "American journal of human genetics", "date": "1995", "authors": "Lei KJ, Chen YT, Chen H, Wong LJ, Liu JL, McConkie-Rosell A, Van Hove JL, Ou HC, Yeh NJ, Pan LY, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "7573034", "url": "https://glygen.org/publication/PubMed/7573034" } ] }, { "title": "Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance.", "journal": "American journal of human genetics", "date": "1995", "authors": "Ali M, Cox TM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "7717389", "url": "https://glygen.org/publication/PubMed/7717389" } ] }, { "title": "Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.", "journal": "Science (New York, N.Y.)", "date": "1993", "authors": "Lei KJ, Shelly LL, Pan CJ, Sidbury JB, Chou JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "8211187", "url": "https://glygen.org/publication/PubMed/8211187" } ] }, { "title": "The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.", "journal": "American journal of human genetics", "date": "1993", "authors": "Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "8447317", "url": "https://glygen.org/publication/PubMed/8447317" } ] }, { "title": "Molecular analysis of a series of alleles in humans with reduced activity at the triosephosphate isomerase locus.", "journal": "American journal of human genetics", "date": "1996", "authors": "Watanabe M, Zingg BC, Mohrenweiser HW", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "8571957", "url": "https://glygen.org/publication/PubMed/8571957" } ] }, { "title": "The formation of a disulfide cross-link between the two subunits demonstrates the dimeric structure of the mitochondrial oxoglutarate carrier.", "journal": "Biochimica et biophysica acta", "date": "1996", "authors": "Bisaccia F, Zara V, Capobianco L, Iacobazzi V, Mazzeo M, Palmieri F", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "8597574", "url": "https://glygen.org/publication/PubMed/8597574" } ] }, { "title": "Molecular cloning, sequencing and expression of the cDNA of the mitochondrial form of phosphoenolpyruvate carboxykinase from human liver.", "journal": "The Biochemical journal", "date": "1996", "authors": "Modaressi S, Christ B, Bratke J, Zahn S, Heise T, Jungermann K", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "8645161", "url": "https://glygen.org/publication/PubMed/8645161" } ] }, { "title": "Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.", "journal": "American journal of human genetics", "date": "1997", "authors": "Kikawa Y, Inuzuka M, Jin BY, Kaji S, Koga J, Yamamoto Y, Fujisawa K, Hata I, Nakai A, Shigematsu Y, Mizunuma H, Taketo A, Mayumi M, Sudo M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9382095", "url": "https://glygen.org/publication/PubMed/9382095" } ] }, { "title": "Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.", "journal": "FEBS letters", "date": "1997", "authors": "Gerin I, Veiga-da-Cunha M, Achouri Y, Collet JF, Van Schaftingen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9428641", "url": "https://glygen.org/publication/PubMed/9428641" } ] }, { "title": "Human mitochondrial phosphoenolpyruvate carboxykinase 2 gene. Structure, chromosomal localization and tissue-specific expression.", "journal": "The Biochemical journal", "date": "1998", "authors": "Modaressi S, Brechtel K, Christ B, Jungermann K", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9657976", "url": "https://glygen.org/publication/PubMed/9657976" } ] }, { "title": "Isolation and characterization of an allelic cDNA for human muscle fructose-1,6-bisphosphatase.", "journal": "Gene", "date": "1998", "authors": "Tillmann H, Eschrich K", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" }, { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9678974", "url": "https://glygen.org/publication/PubMed/9678974" } ] }, { "title": "A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.", "journal": "American journal of human genetics", "date": "1998", "authors": "Veiga-da-Cunha M, Gerin I, Chen YT, de Barsy T, de Lonlay P, Dionisi-Vici C, Fenske CD, Lee PJ, Leonard JV, Maire I, McConkie-Rosell A, Schweitzer S, Vikkula M, Van Schaftingen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9758626", "url": "https://glygen.org/publication/PubMed/9758626" } ] }, { "title": "Aggregation states of mitochondrial malate dehydrogenase.", "journal": "Protein science : a publication of the Protein Society", "date": "1998", "authors": "Sanchez SA, Hazlett TL, Brunet JE, Jameson DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9792106", 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"categories": [ { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "fructose 1,6-bisphosphate 1-phosphatase activity", "id": "GO:0042132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042132", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": 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}, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" } ], "pmid": "" }, { "name": "anchoring junction", "id": "GO:0070161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070161", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "gluconeogenesis", "id": "GO:0006094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006094", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" } ], "pmid": "" }, { "name": "fructose metabolic process", "id": "GO:0006000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006000", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" } ], "pmid": "" }, { "name": "fructose 1,6-bisphosphate metabolic process", "id": "GO:0030388", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030388", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" } ], "pmid": "" }, { "name": "fructose 6-phosphate metabolic process", "id": "GO:0006002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006002", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" } ], "pmid": "" }, { "name": "sucrose biosynthetic process", "id": "GO:0005986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005986", "evidence": [ { "database": "UniProtKB", "id": "O00757", "url": "https://www.uniprot.org/uniprot/O00757" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 65, "end_pos": 67, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "11064", "name": "", "equation": "beta-D-fructose 1,6-bisphosphate + H2O = beta-D-fructose 6-phosphate + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P19112-1", "Q9Z1N1-1", "O00757-1", "P09467-1", "Q9QXD6-1", "P70695-1", "P09201-1", "Q6RYT0-1", "A0A0U1RVK6-1" ], "evidence": [ { "id": "11064", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/11064" } ] }, { "id": "R-HSA-70479", "name": "FBP tetramers hydrolyze F1,6PP to Fru(6)P", "equation": "", "summary": "Cytosolic FBP (fructose-1,6-bisphosphatase) tetramers catalyze the physiologically irreversible hydrolysis of F1,6PP (fructose-1,6-bisphosphate) to form Fru(6)P (fructose-6-phosphate) and Pi (orthophosphate). 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