{ "uniprot_canonical_ac": "P13995-1", "uniprot_ac": "P13995", "uniprot_id": "MTDC_HUMAN", "mass": { "chemical_mass": 37895.0, "monoisotopic_mass": 37895.0 }, "refseq": { "ac": "NP_006627", "name": "bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial isoform A precursor", "summary": "This gene encodes a nuclear-encoded mitochondrial bifunctional enzyme with methylenetetrahydrofolate dehydrogenase and methenyltetrahydrofolate cyclohydrolase activities. The enzyme functions as a homodimer and is unique in its absolute requirement for magnesium and inorganic phosphate. Formation of the enzyme-magnesium complex allows binding of NAD. Alternative splicing results in two different transcripts, one protein-coding and the other not protein-coding. This gene has a pseudogene on chromosome 7. [provided by RefSeq, Mar 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006627" }, "gene_names": [ { "name": "MTHFD2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P13995", "id": "P13995" }, { "name": "MTHFD2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006627", "id": "NP_006627" }, { "name": "NMDMC", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006627", "id": "NP_006627" }, { "name": "NMDMC", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P13995", "id": "P13995" } ], "protein_names": [ { "name": "Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P13995" }, { "name": "NAD-dependent methylene tetrahydrofolate dehydrogenase cyclohydrolase; bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006627", "id": "NP_006627" }, { "name": "bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial isoform A precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006627", "id": "NP_006627" } ], "function": [ { "annotation": "Although its dehydrogenase activity is NAD-specific, it can also utilize NADP at a reduced efficiency.", "evidence": [ { "database": "UniProtKB", "id": "P13995", "url": "https://www.uniprot.org/uniprot/P13995#function" }, { "database": "PubMed", "id": "16100107", "url": "https://glygen.org/publication/PubMed/16100107" } ] }, { "annotation": "Folate enzyme MTHFD2 links one-carbon metabolism to unfolded protein response in glioblastoma.", "evidence": [ { "database": "RefSeq", "id": "NP_006627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006627" }, { "database": "PubMed", "id": "36089117", "url": "https://glygen.org/publication/PubMed/36089117" } ] }, { "annotation": "MTHFD2 suppresses glioblastoma progression via the inhibition of ERK1/2 phosphorylation.", "evidence": [ { "database": "RefSeq", "id": "NP_006627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006627" }, { "database": "PubMed", "id": "36493392", "url": "https://glygen.org/publication/PubMed/36493392" } ] }, { "annotation": "Metabolic collateral lethal target identification reveals MTHFD2 paralogue dependency in ovarian cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_006627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006627" }, { "database": "PubMed", "id": "36131208", "url": "https://glygen.org/publication/PubMed/36131208" } ] }, { "annotation": "SNHG3/hsa-miR-455-5p Axis-mediated High Expression of MTHFD2 Correlates with Tumor Immune Infiltration and Endometrial Carcinoma Progression. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006627" }, { "database": "PubMed", "id": "37484807", "url": "https://glygen.org/publication/PubMed/37484807" } ] }, { "annotation": "This gene encodes a nuclear-encoded mitochondrial bifunctional enzyme with methylenetetrahydrofolate dehydrogenase and methenyltetrahydrofolate cyclohydrolase activities. The enzyme functions as a homodimer and is unique in its absolute requirement for magnesium and inorganic phosphate. Formation of the enzyme-magnesium complex allows binding of NAD. Alternative splicing results in two different transcripts, one protein-coding and the other not protein-coding. This gene has a pseudogene on chromosome 7. [provided by RefSeq, Mar 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_006627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006627" } ] }, { "annotation": "Upregulation of MTHFD2 is associated with PDL1 activation in bladder cancer via the PI3K/AKT pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_006627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006627" }, { "database": "PubMed", "id": "36601741", "url": "https://glygen.org/publication/PubMed/36601741" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 168, "end_pos": 168, "sequence_org": "D", "sequence_mut": "A", "comment": "Significant loss of NAD and NADP-dependent dehydrogenase specific activity.", "evidence": [ { "database": "UniProtKB", "id": "P13995", "url": "https://www.uniprot.org/uniprot/P13995" }, { "database": "PubMed", "id": "16100107", "url": "https://glygen.org/publication/PubMed/16100107" } ] }, { "start_pos": 168, "end_pos": 168, "sequence_org": "D", "sequence_mut": "E", "comment": "Complete loss of NAD and NADP-dependent dehydrogenase specific activity.", "evidence": [ { "database": "UniProtKB", "id": "P13995", "url": "https://www.uniprot.org/uniprot/P13995" }, { "database": "PubMed", "id": "16100107", "url": "https://glygen.org/publication/PubMed/16100107" } ] }, { "start_pos": 168, "end_pos": 168, "sequence_org": "D", "sequence_mut": "N", "comment": "80% decrease in NAD-dependent dehydrogenase specific activity. 18% decrease in NADP-dependent dehydrogenase specific activity. Reduced affinity for magnesium.", "evidence": [ { "database": "UniProtKB", "id": "P13995", "url": "https://www.uniprot.org/uniprot/P13995" }, { "database": "PubMed", "id": "16100107", "url": "https://glygen.org/publication/PubMed/16100107" } ] }, { "start_pos": 168, "end_pos": 168, "sequence_org": "D", "sequence_mut": "S", "comment": "82% decrease in NAD-dependent dehydrogenase specific activity. 65% decrease in NADP-dependent dehydrogenase specific activity. Reduced affinity for magnesium.", "evidence": [ { "database": "UniProtKB", "id": "P13995", "url": "https://www.uniprot.org/uniprot/P13995" }, { "database": "PubMed", "id": "16100107", "url": "https://glygen.org/publication/PubMed/16100107" } ] }, { "start_pos": 201, "end_pos": 201, "sequence_org": "R", "sequence_mut": "A", "comment": "Complete loss of NAD and NADP-dependent dehydrogenase specific activity.", "evidence": [ { "database": "UniProtKB", "id": "P13995", "url": "https://www.uniprot.org/uniprot/P13995" }, { "database": "PubMed", "id": "16100107", "url": "https://glygen.org/publication/PubMed/16100107" } ] }, { "start_pos": 201, "end_pos": 201, "sequence_org": "R", "sequence_mut": "K", "comment": "Complete loss of NAD and NADP-dependent dehydrogenase specific activity.", "evidence": [ { "database": "UniProtKB", "id": "P13995", "url": "https://www.uniprot.org/uniprot/P13995" }, { "database": "PubMed", "id": "16100107", "url": "https://glygen.org/publication/PubMed/16100107" } ] }, { "start_pos": 201, "end_pos": 201, "sequence_org": "R", "sequence_mut": "S", "comment": "Complete loss of NAD and NADP-dependent dehydrogenase specific activity.", "evidence": [ { "database": "UniProtKB", "id": "P13995", "url": "https://www.uniprot.org/uniprot/P13995" }, { "database": "PubMed", "id": "16100107", "url": "https://glygen.org/publication/PubMed/16100107" } ] }, { "start_pos": 225, "end_pos": 225, "sequence_org": "D", "sequence_mut": "A", "comment": "Complete loss of NAD and NADP-dependent dehydrogenase specific activity.", "evidence": [ { "database": "UniProtKB", "id": "P13995", "url": "https://www.uniprot.org/uniprot/P13995" }, { "database": "PubMed", "id": "16100107", "url": "https://glygen.org/publication/PubMed/16100107" } ] }, { "start_pos": 225, "end_pos": 225, "sequence_org": "D", "sequence_mut": "E", "comment": "Complete loss of NAD and NADP-dependent dehydrogenase specific activity.", "evidence": [ { "database": "UniProtKB", "id": "P13995", "url": "https://www.uniprot.org/uniprot/P13995" }, { "database": "PubMed", "id": "16100107", "url": "https://glygen.org/publication/PubMed/16100107" } ] }, { "start_pos": 225, "end_pos": 225, "sequence_org": "D", "sequence_mut": "N", "comment": "84% decrease in NAD-dependent dehydrogenase specific activity. 36% increase in NADP-dependent dehydrogenase specific activity. Reduced affinity for magnesium.", "evidence": [ { "database": "UniProtKB", "id": "P13995", "url": "https://www.uniprot.org/uniprot/P13995" }, { "database": "PubMed", "id": "16100107", "url": "https://glygen.org/publication/PubMed/16100107" } ] }, { "start_pos": 225, "end_pos": 225, "sequence_org": "D", "sequence_mut": "S", "comment": "Complete loss of NAD and NADP-dependent dehydrogenase specific activity.", "evidence": [ { "database": "UniProtKB", "id": "P13995", "url": "https://www.uniprot.org/uniprot/P13995" }, { "database": "PubMed", "id": "16100107", "url": "https://glygen.org/publication/PubMed/16100107" } ] }, { "start_pos": 233, "end_pos": 233, "sequence_org": "R", "sequence_mut": "A", "comment": "Significant loss of NAD and NADP-dependent dehydrogenase specific activity.", "evidence": [ { "database": "UniProtKB", "id": "P13995", "url": "https://www.uniprot.org/uniprot/P13995" }, { "database": "PubMed", "id": "16100107", "url": "https://glygen.org/publication/PubMed/16100107" } ] }, { "start_pos": 233, "end_pos": 233, "sequence_org": "R", "sequence_mut": "K", "comment": "50% decrease in NAD and NADP-dependent dehydrogenase specific activity. Reduced affinity for magnesium.", "evidence": [ { "database": "UniProtKB", "id": "P13995", "url": "https://www.uniprot.org/uniprot/P13995" }, { "database": "PubMed", "id": "16100107", "url": "https://glygen.org/publication/PubMed/16100107" } ] }, { "start_pos": 233, "end_pos": 233, "sequence_org": "R", "sequence_mut": "S", "comment": "Almost complete loss of NAD-dependent dehydrogenase specific activity. 50% decrease in NADP-dependent dehydrogenase specific activity.", "evidence": [ { "database": "UniProtKB", "id": "P13995", "url": "https://www.uniprot.org/uniprot/P13995" }, { "database": "PubMed", "id": "16100107", "url": "https://glygen.org/publication/PubMed/16100107" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "77.12", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000065911", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000065911" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "89.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000065911", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000065911" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "91.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000065911", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000065911" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "87.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000065911", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000065911" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "96.44", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000065911", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000065911" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "94.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000065911", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000065911" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "90.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000065911", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000065911" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "88.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000065911", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000065911" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "86.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000065911", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000065911" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "82.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000065911", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000065911" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "77.85", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000065911", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000065911" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "87.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000065911", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000065911" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "92.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000065911", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000065911" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P13995", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13995" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": 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"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": 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", 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"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, 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"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": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P13995", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13995" } ], "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": "" }, { 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", 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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": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P13995", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13995" } ], "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": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P13995", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13995" } ], "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": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P13995", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13995" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P13995", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13995" } ], "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": "P13995", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13995" } ], "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": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P13995", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13995" } ], "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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"id": "IPR046346", "url": "https://www.ebi.ac.uk/interpro/entry/IPR046346", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:10797", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10797", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "604887", "url": "http://www.omim.org/entry/604887", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P13995", "url": "https://www.nextprot.org/entry/NX_P13995", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P13995", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13995", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "VCHILTK", "url": "https://omabrowser.org/oma/group/VCHILTK/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5386942at2759", "url": "http://www.orthodb.org/?query=5386942at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR48099", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR48099", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR48099:SF15", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR48099:SF15", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "5TC4", "url": "https://www.rcsb.org/structure/5TC4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6JIB", "url": "https://www.rcsb.org/structure/6JIB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6JID", "url": "https://www.rcsb.org/structure/6JID", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6KG2", "url": "https://www.rcsb.org/structure/6KG2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6S4A", "url": "https://www.rcsb.org/structure/6S4A", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6S4E", "url": "https://www.rcsb.org/structure/6S4E", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6S4F", "url": "https://www.rcsb.org/structure/6S4F", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7EHJ", "url": "https://www.rcsb.org/structure/7EHJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7EHM", "url": "https://www.rcsb.org/structure/7EHM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7EHN", "url": "https://www.rcsb.org/structure/7EHN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7EHV", "url": "https://www.rcsb.org/structure/7EHV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00763", "url": "http://pfam.xfam.org/family/PF00763", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02882", "url": "http://pfam.xfam.org/family/PF02882", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P13995", "url": "https://pharos.nih.gov/targets/P13995", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P13995", "url": "http://purl.obolibrary.org/obo/PR_P13995", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_006627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006627", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "22892", "url": "https://www.rhea-db.org/rhea/22892", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "23700", "url": "https://www.rhea-db.org/rhea/23700", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A7I2V2G4", "url": "https://www.uniprot.org/uniprot/A0A7I2V2G4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V2G4-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V2G4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V2U6", "url": "https://www.uniprot.org/uniprot/A0A7I2V2U6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V2U6-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V2U6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V3T1", "url": "https://www.uniprot.org/uniprot/A0A7I2V3T1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V3T1-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V3T1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V482", "url": "https://www.uniprot.org/uniprot/A0A7I2V482", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V482-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V482-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2YQD4", "url": "https://www.uniprot.org/uniprot/A0A7I2YQD4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2YQD4-1", "url": "https://www.uniprot.org/uniprot/A0A7I2YQD4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B8ZZU9", "url": "https://www.uniprot.org/uniprot/B8ZZU9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B8ZZU9-1", "url": "https://www.uniprot.org/uniprot/B8ZZU9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B9A062", "url": "https://www.uniprot.org/uniprot/B9A062", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B9A062-1", "url": "https://www.uniprot.org/uniprot/B9A062-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WF06", "url": "https://www.uniprot.org/uniprot/F8WF06", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WF06-1", "url": "https://www.uniprot.org/uniprot/F8WF06-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WF89", "url": "https://www.uniprot.org/uniprot/F8WF89", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WF89-1", "url": "https://www.uniprot.org/uniprot/F8WF89-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13995", "url": "https://www.uniprot.org/uniprot/P13995", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13995-1", "url": "https://www.uniprot.org/uniprot/P13995-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13995-2", "url": "https://www.uniprot.org/uniprot/P13995-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAATSLMSALAARLLQPAHSCSLRLRPFHLAAVRNEAVVISGRKLAQQIKQEVRQEVEEWVASGNKRPHLSVILVGENPASHSYVLNKTRAAAVVGINSETIMKPASISEEELLNLINKLNNDDNVDGLLVQLPLPEHIDERRICNAVSPDKDVDGFHVINVGRMCLDQYSMLPATPWGVWEIIKRTGIPTLGKNVVVAGRSKNVGMPIAMLLHTDGAHERPGGDATVTISHRYTPKEQLKKHTILADIVISAAGIPNLITADMIKEGAAVIDVGINRVHDPVTAKPKLVGDVDFEGVRQKAGYITPVPGGVGPMTVAMLMKNTIIAAKKVLRLEEREVLKSKELGVATN", "length": 350, "header": "sp|P13995-1|MTDC_HUMAN Isoform 1 of Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial OS=Homo sapiens OX=9606 GN=MTHFD2 PE=1 SV=2 CANONICAL=P13995-1" }, "isoforms": [ { "isoform_ac": "A0A7I2V2G4-1", "url": "", "sequence": { "sequence": "MAATSLMSALAARLLQPAHSCSLRLRPFHLAAVRAY", "length": 36, "header": "tr|A0A7I2V2G4-1|A0A7I2V2G4_HUMAN Computationally mapped isoform of Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial OS=Homo sapiens OX=9606 GN=MTHFD2 PE=1 SV=1 CANONICAL=P13995-1" }, "locus": { "chromosome": "2", "start_pos": 74208575, "end_pos": 74198642, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677377.1", "url": "https://www.ensembl.org/id/ENST00000677377.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502903.1", "url": "https://www.ensembl.org/id/ENSP00000502903.1" } ] } }, { "isoform_ac": "A0A7I2V2U6-1", "url": "", "sequence": { "sequence": "MHVKCSERNEAVVISGRKLAQQIKQEVRQEVEEWVASGNKRPHLSVILVGENPASHSYVLNKTRAAAVVGINSETIMKPASISEEELLNLINKLNNDDNVDGLLVQLPLPEHIDERRICNAVSPDKDVDGFHVINVGRMCLDQYSMLPATPWGVWEIIKRTGIPTLGKNVVVAGRSKNVGMPIAMLLHTDGAHERPGGDATVTISHRYTPKEQLKKHTILADIVISAAGIPNLITADMIKEGAAVIDVGINRVHDPVTAKPKLVGDVDFEGVRQKAGYITPVPGGVGPMTVAMLMKNTIIAAKKVLRLEEREVLKSKELGVATN", "length": 324, "header": "tr|A0A7I2V2U6-1|A0A7I2V2U6_HUMAN Computationally mapped isoform of methenyltetrahydrofolate cyclohydrolase OS=Homo sapiens OX=9606 GN=MTHFD2 PE=1 SV=1 CANONICAL=P13995-1" }, "locus": { "chromosome": "2", "start_pos": 74214239, "end_pos": 74187435, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677997.1", "url": "https://www.ensembl.org/id/ENST00000677997.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503074.1", "url": "https://www.ensembl.org/id/ENSP00000503074.1" } ] } }, { "isoform_ac": "A0A7I2V3T1-1", "url": "", "sequence": { "sequence": "MTVAMLMKNTIIAAKKVLRLEEREVLKSKELGVATN", "length": 36, "header": "tr|A0A7I2V3T1-1|A0A7I2V3T1_HUMAN Computationally mapped isoform of Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial OS=Homo sapiens OX=9606 GN=MTHFD2 PE=1 SV=1 CANONICAL=P13995-1" }, "locus": { "chromosome": "2", "start_pos": 74214239, "end_pos": 74214132, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677558.1", "url": "https://www.ensembl.org/id/ENST00000677558.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503573.1", "url": "https://www.ensembl.org/id/ENSP00000503573.1" } ] } }, { "isoform_ac": "A0A7I2V482-1", "url": "", "sequence": { "sequence": "MKPASISEEELLNLINKLNNDDNVDGLLVQLPLPEHIDERRICNAVSPDKDVDGFHVINVGRMCLDQYSMLPATPWGVWEIIKRTGDATVTISHRYTPKEQLKKHTILADIVISAAGIPNLITADMIKEGAAVIDVGINRVHDPVTAKPKLVGDVDFEGVRQKAGYITPVPGGVGPMTVAMLMKNTIIAAKKVLRLEEREVLKSKELGVATN", "length": 212, "header": "tr|A0A7I2V482-1|A0A7I2V482_HUMAN Computationally mapped isoform of methenyltetrahydrofolate cyclohydrolase OS=Homo sapiens OX=9606 GN=MTHFD2 PE=1 SV=1 CANONICAL=P13995-1" }, "locus": { "chromosome": "2", "start_pos": 74214239, "end_pos": 74207724, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678340.1", "url": "https://www.ensembl.org/id/ENST00000678340.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503933.1", "url": "https://www.ensembl.org/id/ENSP00000503933.1" } ] } }, { "isoform_ac": "A0A7I2YQD4-1", "url": "", "sequence": { "sequence": "MKPASISEEELLNLINKLNNDDNVDGLLVQLPLPEHIDERRICNAVSPDKDVDGFHVINVGRMCLDQYSMLPATPWGVWEIIKRTGIPTLGKNVVVAGRSKNVGMPIAMLLHTDGAHERPGGDATVTISHRYTPKEQLKKHTILADIVISAAGIPNLITADMIKEGAAVIDVGINRVHDPVTAKPKLVGDVDFEDGSLTLLPR", "length": 203, "header": "tr|A0A7I2YQD4-1|A0A7I2YQD4_HUMAN Computationally mapped isoform of methenyltetrahydrofolate cyclohydrolase OS=Homo sapiens OX=9606 GN=MTHFD2 PE=1 SV=1 CANONICAL=P13995-1" }, "locus": { "chromosome": "2", "start_pos": 74211995, "end_pos": 74207724, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000462026.2", "url": "https://www.ensembl.org/id/ENST00000462026.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000503386.1", "url": "https://www.ensembl.org/id/ENSP00000503386.1" } ] } }, { "isoform_ac": "B8ZZU9-1", "url": "", "sequence": { "sequence": "MAATSLMSALAARLLQPAHSCSLRLRPFHLAAVRNEAVVISGRKLAQQIKQEVRQEVEEWVASGNKRPHLSVILVGENPASHSYVLNKTRAAAVVEHIDERRICNAVSPDKDVDGFHVINVGRMCLDQYSMLPATPWGVWEIIKRTGIPTLGKNVVVAGRSKNVGMPIAMLLHTDGAHERPGGDATVTISHRYTPKEQLKKHTILADIVISAAGVRQKAGYITPVPGGVGPMTVAMLMKNTIIAAKKVLRLEEREVLKSKELGVATN", "length": 267, "header": "tr|B8ZZU9-1|B8ZZU9_HUMAN Computationally mapped isoform of Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial OS=Homo sapiens OX=9606 GN=MTHFD2 PE=1 SV=1 CANONICAL=P13995-1" }, "locus": { "chromosome": "2", "start_pos": 74214239, "end_pos": 74198642, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000409601.1", "url": "https://www.ensembl.org/id/ENST00000409601.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000386542.1", "url": "https://www.ensembl.org/id/ENSP00000386542.1" } ] } }, { "isoform_ac": "B9A062-1", "url": "", "sequence": { "sequence": "MAATSLMSALAARLLQPAHSCSLRLRPFHLAAVRNEAVVISGRKLAQQIKQEVRQEVEEWVASGNKRPHLSVILVGENPASHSYVLNKTRAAAVVGDATVTISHRYTPKEQLKKHTILADIVISAAGIPNLITADMIKEGAAVIDVGINRVHDPVTAKPKLVGDVDFEGVRQKAGYITPVPGGVGPMTVAMLMKNTIIAAKKVLRLEEREVLKSKELGVATN", "length": 222, "header": "tr|B9A062-1|B9A062_HUMAN Computationally mapped isoform of Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial OS=Homo sapiens OX=9606 GN=MTHFD2 PE=1 SV=1 CANONICAL=P13995-1" }, "locus": { "chromosome": "2", "start_pos": 74214239, "end_pos": 74198642, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000409804.5", "url": "https://www.ensembl.org/id/ENST00000409804.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000386536.1", "url": "https://www.ensembl.org/id/ENSP00000386536.1" } ] } }, { "isoform_ac": "F8WF06-1", "url": "", "sequence": { "sequence": "MAATSLMSALAARLLQPAHSCSLRLRPFHLAAVRGISP", "length": 38, "header": "tr|F8WF06-1|F8WF06_HUMAN Computationally mapped isoform of Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial OS=Homo sapiens OX=9606 GN=MTHFD2 PE=1 SV=2 CANONICAL=P13995-1" }, "locus": { "chromosome": "2", "start_pos": 74201394, "end_pos": 74198642, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000489041.2", "url": "https://www.ensembl.org/id/ENST00000489041.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000419550.2", "url": "https://www.ensembl.org/id/ENSP00000419550.2" } ] } }, { "isoform_ac": "F8WF89-1", "url": "", "sequence": { "sequence": "MAATSLMSALAARLLQPAHSCSLRLRPFHLAAVRNQQ", "length": 37, "header": "tr|F8WF89-1|F8WF89_HUMAN Computationally mapped isoform of Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial OS=Homo sapiens OX=9606 GN=MTHFD2 PE=1 SV=1 CANONICAL=P13995-1" }, "locus": { "chromosome": "2", "start_pos": 74207713, "end_pos": 74198642, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000470592.5", "url": "https://www.ensembl.org/id/ENST00000470592.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000419067.1", "url": "https://www.ensembl.org/id/ENSP00000419067.1" } ] } }, { "isoform_ac": "P13995-1", "url": "", "sequence": { "sequence": "MAATSLMSALAARLLQPAHSCSLRLRPFHLAAVRNEAVVISGRKLAQQIKQEVRQEVEEWVASGNKRPHLSVILVGENPASHSYVLNKTRAAAVVGINSETIMKPASISEEELLNLINKLNNDDNVDGLLVQLPLPEHIDERRICNAVSPDKDVDGFHVINVGRMCLDQYSMLPATPWGVWEIIKRTGIPTLGKNVVVAGRSKNVGMPIAMLLHTDGAHERPGGDATVTISHRYTPKEQLKKHTILADIVISAAGIPNLITADMIKEGAAVIDVGINRVHDPVTAKPKLVGDVDFEGVRQKAGYITPVPGGVGPMTVAMLMKNTIIAAKKVLRLEEREVLKSKELGVATN", "length": 350, "header": "sp|P13995-1|MTDC_HUMAN Isoform 1 of Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial OS=Homo sapiens OX=9606 GN=MTHFD2 PE=1 SV=2 CANONICAL=P13995-1" }, "locus": { "chromosome": "2", "start_pos": 74214239, "end_pos": 74198642, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000394053.7", "url": "https://www.ensembl.org/id/ENST00000394053.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000377617.2", "url": "https://www.ensembl.org/id/ENSP00000377617.2" } ] } }, { "isoform_ac": "P13995-2", "url": "", "sequence": { "sequence": "MKPASISEEELLNLINKLNNDDNVDGLLVQLPLPEHIDERRICNAVSPDKDVDGFHVINVGRMCLDQYSMLPATPWGVWEIIKRTGIPTLGKNVVVAGRSKNVGMPIAMLLHTDGAHERPGGDATVTISHRYTPKEQLKKHTILADIVISAAGIPNLITADMIKEGAAVIDVGINRVHDPVTAKPKLVGDVDFEGVRQKAGYITPVPGGVGPMTVAMLMKNTIIAAKKVLRLEEREVLKSKELGVATN", "length": 248, "header": "sp|P13995-2|MTDC_HUMAN Isoform 2 of Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial OS=Homo sapiens OX=9606 GN=MTHFD2 PE=1 SV=2 CANONICAL=P13995-1" }, "locus": { "chromosome": "2", "start_pos": 74214239, "end_pos": 74207724, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678623.1", "url": "https://www.ensembl.org/id/ENST00000678623.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504392.1", "url": "https://www.ensembl.org/id/ENSP00000504392.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P13995", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13995" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Structure and dynamics in solution of the complex of Lactobacillus casei dihydrofolate reductase with the new lipophilic antifolate drug trimetrexate.", "journal": "Protein science : a publication of the Protein Society", "date": "1999", "authors": "Polshakov VI, Birdsall B, Frenkiel TA, Gargaro AR, Feeney J", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "10091649", "url": "https://glygen.org/publication/PubMed/10091649" } ] }, { "title": "Topological and functional analysis of the human reduced folate carrier by hemagglutinin epitope insertion.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Ferguson PL, Flintoff WF", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "10347183", "url": "https://glygen.org/publication/PubMed/10347183" } ] }, { "title": "Retrovirally mediated complementation of the glyB phenotype. Cloning of a human gene encoding the carrier for entry of folates into mitochondria.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Titus SA, Moran RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "10978331", "url": "https://glygen.org/publication/PubMed/10978331" } ] }, { "title": "Human mitochondrial C1-tetrahydrofolate synthase: gene structure, tissue distribution of the mRNA, and immunolocalization in Chinese hamster ovary calls.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Prasannan P, Pike S, Peng K, Shane B, Appling DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "12937168", "url": "https://glygen.org/publication/PubMed/12937168" } ] }, { "title": "Magnesium and phosphate ions enable NAD binding to methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Christensen KE, Mirza IA, Berghuis AM, Mackenzie RE", "evidence": [ { "database": "UniProtKB", "id": "P13995", "url": "https://www.uniprot.org/uniprot/P13995" } ], "reference": [ { "type": "PubMed", "id": "16100107", "url": "https://glygen.org/publication/PubMed/16100107" } ] }, { "title": "Enzymatic characterization of human mitochondrial C1-tetrahydrofolate synthase.", "journal": "Archives of biochemistry and biophysics", "date": "2005", "authors": "Walkup AS, Appling DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "16171773", "url": "https://glygen.org/publication/PubMed/16171773" } ] }, { "title": "Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption.", "journal": "Cell", "date": "2006", "authors": "Qiu A, Jansen M, Sakaris A, Min SH, Chattopadhyay S, Tsai E, Sandoval C, Zhao R, Akabas MH, Goldman ID", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "17129779", "url": "https://glygen.org/publication/PubMed/17129779" } ] }, { "title": "Pemetrexed: biochemical and cellular pharmacology, mechanisms, and clinical applications.", "journal": "Molecular cancer therapeutics", "date": "2007", "authors": "Chattopadhyay S, Moran RG, Goldman ID", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "17308042", "url": "https://glygen.org/publication/PubMed/17308042" } ] }, { "title": "Trimetrexate and folinic acid: a valuable salvage option for Pneumocystis jirovecii pneumonia.", "journal": "AIDS (London, England)", "date": "2009", "authors": "Short CE, Gilleece YC, Fisher MJ, Churchill DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "19424049", "url": "https://glygen.org/publication/PubMed/19424049" } ] }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P13995", "url": "https://www.uniprot.org/uniprot/P13995" } ], "reference": [ { "type": "PubMed", "id": "19608861", "url": "https://glygen.org/publication/PubMed/19608861" } ] }, { "title": "Mitochondrial C1-tetrahydrofolate synthase (MTHFD1L) supports the flow of mitochondrial one-carbon units into the methyl cycle in embryos.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Pike ST, Rajendra R, Artzt K, Appling DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "19948730", "url": "https://glygen.org/publication/PubMed/19948730" } ] }, { "title": "ALDH1L2 is the mitochondrial homolog of 10-formyltetrahydrofolate dehydrogenase.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Krupenko NI, Dubard ME, Strickland KC, Moxley KM, Oleinik NV, Krupenko SA", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "20498374", "url": "https://glygen.org/publication/PubMed/20498374" } ] }, { "title": "Mammalian MTHFD2L encodes a mitochondrial methylenetetrahydrofolate dehydrogenase isozyme expressed in adult tissues.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Bolusani S, Young BA, Cole NA, Tibbetts AS, Momb J, Bryant JD, Solmonson A, Appling DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "21163947", "url": "https://glygen.org/publication/PubMed/21163947" } ] }, { "title": "Enzymatic properties of ALDH1L2, a mitochondrial 10-formyltetrahydrofolate dehydrogenase.", "journal": "Chemico-biological interactions", "date": "2011", "authors": "Strickland KC, Krupenko NI, Dubard ME, Hu CJ, Tsybovsky Y, Krupenko SA", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "21238436", "url": "https://glygen.org/publication/PubMed/21238436" } ] }, { "title": "Identification of a de novo thymidylate biosynthesis pathway in mammalian mitochondria.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Anderson DD, Quintero CM, Stover PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "21876188", "url": "https://glygen.org/publication/PubMed/21876188" } ] }, { "title": "Crystal structures of recombinant human dihydrofolate reductase complexed with folate and 5-deazafolate.", "journal": "Biochemistry", "date": "1990", "authors": "Davies JF 2nd, Delcamp TJ, Prendergast NJ, Ashford VA, Freisheim JH, Kraut J", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "2248959", "url": "https://glygen.org/publication/PubMed/2248959" } ] }, { "title": "Pralatrexate : evaluation of clinical efficacy and toxicity in T-cell lymphoma.", "journal": "Expert opinion on pharmacotherapy", "date": "2013", "authors": "Shimanovsky A, Dasanu CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "23409799", "url": "https://glygen.org/publication/PubMed/23409799" } ] }, { "title": "Structures of human folate receptors reveal biological trafficking states and diversity in folate and antifolate recognition.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2013", "authors": "Wibowo AS, Singh M, Reeder KM, Carter JJ, Kovach AR, Meng W, Ratnam M, Zhang F, Dann CE 3rd", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "23934049", "url": "https://glygen.org/publication/PubMed/23934049" } ] }, { "title": "Mitochondrial MTHFD2L is a dual redox cofactor-specific methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase expressed in both adult and embryonic tissues.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Shin M, Bryant JD, Momb J, Appling DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "24733394", "url": "https://glygen.org/publication/PubMed/24733394" } ] }, { "title": "Nucleotide sequence of the human NAD-dependent methylene tetrahydrofolate dehydrogenase-cyclohydrolase.", "journal": "Nucleic Acids Res.", "date": "1989", "authors": "Peri KG, Belanger C, Mackenzie RE", "evidence": [ { "database": "UniProtKB", "id": "P13995", "url": "https://www.uniprot.org/uniprot/P13995" } ], "reference": [ { "type": "PubMed", "id": "2587219", "url": "https://glygen.org/publication/PubMed/2587219" } ] }, { "title": "Homologous membrane folate binding proteins in human placenta: cloning and sequence of a cDNA.", "journal": "Biochemistry", "date": "1989", "authors": "Ratnam M, Marquardt H, Duhring JL, Freisheim JH", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "2605182", "url": "https://glygen.org/publication/PubMed/2605182" } ] }, { "title": "Crystal structure of the emerging cancer target MTHFD2 in complex with a substrate-based inhibitor.", "journal": "Cancer Res.", "date": "2017", "authors": "Gustafsson R, Jemth AS, Gustafsson NM, Farnegardh K, Loseva O, Wiita E, Bonagas N, Dahllund L, Llona-Minguez S, Haggblad M, Henriksson M, Andersson Y, Homan E, Helleday T, Stenmark P", "evidence": [ { "database": "UniProtKB", "id": "P13995", "url": "https://www.uniprot.org/uniprot/P13995" } ], "reference": [ { "type": "PubMed", "id": "27899380", "url": "https://glygen.org/publication/PubMed/27899380" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P13995", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13995" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { 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Isolation of a cDNA encoding methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Hum DW, Bell AW, Rozen R, MacKenzie RE", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "3053686", "url": "https://glygen.org/publication/PubMed/3053686" } ] }, { "title": "Overview of Dual-Acting Drug Methotrexate in Different Neurological Diseases, Autoimmune Pathologies and Cancers.", "journal": "International journal of molecular sciences", "date": "2020", "authors": "Kozminski P, Halik PK, Chesori R, Gniazdowska E", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "32423175", "url": "https://glygen.org/publication/PubMed/32423175" } ] }, { "title": "The Structural Basis for Nonsteroidal Anti-Inflammatory Drug Inhibition of Human Dihydrofolate Reductase.", "journal": "Journal of medicinal chemistry", "date": "2020", "authors": "Duff MR Jr, Gabel SA, Pedersen LC, DeRose EF, Krahn JM, Howell EE, London RE", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "32658475", "url": "https://glygen.org/publication/PubMed/32658475" } ] }, { "title": "Irinotecan and Gemcitabine as Second-Line Treatment in Patients with Malignant Pleural Mesothelioma following Platinum plus Pemetrexed Chemotherapy: A Retrospective Study.", "journal": "Oncology", "date": "2021", "authors": "Koda Y, Kuribayashi K, Doi H, Kitajima K, Nakajima Y, Ishigaki H, Nakamura A, Minami T, Takahashi R, Yokoi T, Kijima T", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "33053560", "url": "https://glygen.org/publication/PubMed/33053560" } ] }, { "title": "Schedule-Dependent Synergy Between the Histone Deacetylase Inhibitor Belinostat and the Dihydrofolate Reductase Inhibitor Pralatrexate in T-and B-cell Lymphoma Cells in vitro.", "journal": "Frontiers in cell and developmental biology", "date": "2020", "authors": "Peters GJ, van Gemert FPA, Kathmann I, Reddy G, Cillessen SAGM, Jansen G", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "33163492", "url": "https://glygen.org/publication/PubMed/33163492" } ] }, { "title": "Folate enzyme MTHFD2 links one-carbon metabolism to unfolded protein response in glioblastoma.", "journal": "Cancer letters", "date": "2022-11-28", "authors": "Zhu Zhiyuan, Kiang Karrie Mei-Yee, Li Ning, Liu Jiaxin, Zhang Pingde, Jin Lei, He Xiaozheng, Zhang Shizhong, Leung Gilberto Ka-Kit", "evidence": [ { "database": "RefSeq", "id": "NP_006627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006627" } ], "reference": [ { "type": "PubMed", "id": "36089117", "url": "https://glygen.org/publication/PubMed/36089117" } ] }, { "title": "Metabolic collateral lethal target identification reveals MTHFD2 paralogue dependency in ovarian cancer.", "journal": "Nature metabolism", "date": "2022", "authors": "Achreja A, Yu T, Mittal A, Choppara S, Animasahun O, Nenwani M, Wuchu F, Meurs N, Mohan A, Jeon JH, Sarangi I, Jayaraman A, Owen S, Kulkarni R, Cusato M, Weinberg F, Kweon HK, Subramanian C, Wicha MS, Merajver SD, Nagrath S, Cho KR, DiFeo A, Lu X, Nagrath D", "evidence": [ { "database": "RefSeq", "id": "NP_006627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006627" } ], "reference": [ { "type": "PubMed", "id": "36131208", "url": "https://glygen.org/publication/PubMed/36131208" } ] }, { "title": "MTHFD2 Suppresses Glioblastoma Progression via the Inhibition of ERK1/2 Phosphorylation.", "journal": "Biochemistry and cell biology = Biochimie et biologie cellulaire", "date": "2022-12-09", "authors": "Huang Meihui, Xue Jiajian, Chen Zhiming, Zhou Xiao, Chen Mantong, Sun Jianhong, Xu Zhennan, Wang Shaohong, Xu Haixiong, Du Zepeng, Liu Mingfa", "evidence": [ { "database": "RefSeq", "id": "NP_006627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006627" } ], "reference": [ { "type": "PubMed", "id": "36493392", "url": "https://glygen.org/publication/PubMed/36493392" } ] }, { "title": "Upregulation of MTHFD2 is associated with PD\u2011L1 activation in bladder cancer via the PI3K/AKT pathway.", "journal": "International journal of molecular medicine", "date": "2023-02", "authors": "Deng Xinxi, Liu Xiaoqiang, Hu Bing, Liu Jianyun, Fu Bin, Zhang Wensheng", "evidence": [ { "database": "RefSeq", "id": "NP_006627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006627" } ], "reference": [ { "type": "PubMed", "id": "36601741", "url": "https://glygen.org/publication/PubMed/36601741" } ] }, { "title": "SNHG3/hsa-miR-455-5p Axis-mediated High Expression of MTHFD2 Correlates with Tumor Immune Infiltration and Endometrial Carcinoma Progression.", "journal": "International journal of medical sciences", "date": "2023", "authors": "Wu Sa, Cai Weisong, Li Yanli, Tan Wenfu, Yuan Yichong, Zhou Zhigang, Shi Jie, Liu Xiaotian, Gao Han", "evidence": [ { "database": "RefSeq", "id": "NP_006627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006627" } ], "reference": [ { "type": "PubMed", "id": "37484807", "url": "https://glygen.org/publication/PubMed/37484807" } ] }, { "title": "Human liver methenyltetrahydrofolate synthetase: improved purification and increased affinity for folate polyglutamate substrates.", "journal": "Biochimica et biophysica acta", "date": "1987", "authors": "Bertrand R, MacKenzie RE, Jolivet J", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "3801490", "url": "https://glygen.org/publication/PubMed/3801490" } ] }, { "title": "C1-Tetrahydrofolate synthase from rabbit liver. Structural and kinetic properties of the enzyme and its two domains.", "journal": "The Journal of biological chemistry", "date": "1985", "authors": "Villar E, Schuster B, Peterson D, Schirch V", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "3871768", "url": "https://glygen.org/publication/PubMed/3871768" } ] }, { "title": "Studies of the role of a particulate folate-binding protein in the uptake of 5-methyltetrahydrofolate by cultured human KB cells.", "journal": "The Journal of biological chemistry", "date": "1985", "authors": "Antony AC, Kane MA, Portillo RM, Elwood PC, Kolhouse JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "4066659", "url": "https://glygen.org/publication/PubMed/4066659" } ] }, { "title": "The functional human dihydrofolate reductase gene.", "journal": "The Journal of biological chemistry", "date": "1984", "authors": "Chen MJ, Shimada T, Moulton AD, Cline A, Humphries RK, Maizel J, Nienhuis AW", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "6323448", "url": "https://glygen.org/publication/PubMed/6323448" } ] }, { "title": "Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.", "journal": "American journal of human genetics", "date": "1995", "authors": "Goyette P, Frosst P, Rosenblatt DS, Rozen R", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "7726158", "url": "https://glygen.org/publication/PubMed/7726158" } ] }, { "title": "Isolation 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