{ "uniprot_canonical_ac": "Q9UI32-1", "uniprot_ac": "Q9UI32", "uniprot_id": "GLSL_HUMAN", "mass": { "chemical_mass": 66323.0, "monoisotopic_mass": 66323.0 }, "refseq": { "ac": "NP_001267727", "name": "glutaminase liver isoform, mitochondrial isoform 4", "summary": "The protein encoded by this gene is a mitochondrial phosphate-activated glutaminase that catalyzes the hydrolysis of glutamine to stoichiometric amounts of glutamate and ammonia. Originally thought to be liver-specific, this protein has been found in other tissues as well. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001267727" }, "gene_names": [ { "name": "GLS2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9UI32", "id": "Q9UI32" }, { "name": "GA; GLS; hLGA; LGA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001267727", "id": "NP_001267727" }, { "name": "GA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9UI32", "id": "Q9UI32" }, { "name": "GLS2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001267727", "id": "NP_001267727" }, { "name": "hCG_24976", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9UI32", "id": "Q9UI32" } ], "protein_names": [ { "name": "Glutaminase liver isoform, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9UI32" }, { "name": "3.5.1.2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9UI32" }, { "name": "GLS", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9UI32" }, { "name": "L-glutaminase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9UI32" }, { "name": "L-glutamine amidohydrolase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9UI32" }, { "name": "breast cell glutaminase; L-glutamine amidohydrolase; phosphate-activated glutaminase; phosphate-dependent glutaminase; glutaminase I; glutaminase 2 (liver, mitochondrial)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001267727", "id": "NP_001267727" }, { "name": "glutaminase liver isoform, mitochondrial isoform 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001267727", "id": "NP_001267727" } ], "function": [ { "annotation": "As a unique p53 target gene, GLS2 is a mediator of p53's role in energy metabolism and antioxidant defense, which can contribute to its role in tumor suppression", "evidence": [ { "database": "RefSeq", "id": "NP_001267727", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001267727" }, { "database": "PubMed", "id": "20378837", "url": "https://glygen.org/publication/PubMed/20378837" } ] }, { "annotation": "GLS2 Is a Tumor Suppressor and a Regulator of Ferroptosis in Hepatocellular Carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001267727", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001267727" }, { "database": "PubMed", "id": "35895807", "url": "https://glygen.org/publication/PubMed/35895807" } ] }, { "annotation": "Glutaminase isoforms expression switches microRNA levels and oxidative status in glioblastoma cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001267727", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001267727" }, { "database": "PubMed", "id": "33610185", "url": "https://glygen.org/publication/PubMed/33610185" } ] }, { "annotation": "Plays an important role in the regulation of glutamine catabolism. Promotes mitochondrial respiration and increases ATP generation in cells by catalyzing the synthesis of glutamate and alpha-ketoglutarate. Increases cellular anti-oxidant function via NADH and glutathione production. May play a role in preventing tumor proliferation.", "evidence": [ { "database": "UniProtKB", "id": "Q9UI32", "url": "https://www.uniprot.org/uniprot/Q9UI32#function" }, { "database": "PubMed", "id": "20378837", "url": "https://glygen.org/publication/PubMed/20378837" } ] }, { "annotation": "Results show L-type glutaminase is expressed in the brain with a nuclear localization and that this nuclear enzyme is catalytically active and displays kinetic properties different from both liver and kidney glutaminases", "evidence": [ { "database": "RefSeq", "id": "NP_001267727", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001267727" }, { "database": "PubMed", "id": "12163477", "url": "https://glygen.org/publication/PubMed/12163477" } ] }, { "annotation": "Structure and activation mechanism of the human liver-type glutaminase GLS2.", "evidence": [ { "database": "RefSeq", "id": "NP_001267727", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001267727" }, { "database": "PubMed", "id": "33746066", "url": "https://glygen.org/publication/PubMed/33746066" } ] }, { "annotation": "The protein encoded by this gene is a mitochondrial phosphate-activated glutaminase that catalyzes the hydrolysis of glutamine to stoichiometric amounts of glutamate and ammonia. Originally thought to be liver-specific, this protein has been found in other tissues as well. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001267727", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001267727" } ] }, { "annotation": "Upregulation of glutaminase 2 and neutrophil cytosolic factor 2 is associated with the poor prognosis of glioblastoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001267727", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001267727" }, { "database": "PubMed", "id": "33179520", "url": "https://glygen.org/publication/PubMed/33179520" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "67.29", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000135423", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135423" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "62.17", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000135423", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135423" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "61.58", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000135423", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135423" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000135423", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135423" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "70.53", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000135423", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135423" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "70.05", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000135423", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135423" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000135423", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135423" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "67.4", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000135423", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135423" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "68.64", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000135423", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135423" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000135423", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135423" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "92.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135423", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135423" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "73.26", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000135423", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135423" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "66.86", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000135423", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135423" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q9UI32", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UI32" } ], "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": "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", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "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", "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": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q9UI32", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UI32" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "Q9UI32", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UI32" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "Q9UI32", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UI32" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "Q9UI32", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UI32" } ], "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": "Q9UI32", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UI32" } ], "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": "Q9UI32", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UI32" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "Q9UI32", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UI32" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "Q9UI32", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UI32" } ], "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": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "Q9UI32", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UI32" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "Q9UI32", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UI32" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "Q9UI32", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UI32" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UI32", "url": "https://www.uniprot.org/uniprot/Q9UI32" } ], "common_name": "Human" } ], "gene": [ { "name": "GLS2", "url": "https://www.uniprot.org/uniprot/Q9UI32", "locus": { "chromosome": "12", "start_pos": 56470944, "end_pos": 56488414, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000135423", "url": "https://www.ensembl.org/id/ENSG00000135423" } ] } } ], "crossref": [ { "id": "ENSG00000135423", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135423", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "CHEMBL4105730", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL4105730", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "GLS2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLS2", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "27165", "url": "https://www.ncbi.nlm.nih.gov/gene/27165", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "29570", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=29570", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "Q9UI32", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9UI32*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002110", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002110", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR012338", "url": "https://www.ebi.ac.uk/interpro/entry/IPR012338", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR015868", "url": "https://www.ebi.ac.uk/interpro/entry/IPR015868", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036770", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036770", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR041541", "url": "https://www.ebi.ac.uk/interpro/entry/IPR041541", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:27165", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:27165", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "606365", "url": "http://www.omim.org/entry/606365", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_Q9UI32", "url": "https://www.nextprot.org/entry/NX_Q9UI32", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "DKVGNSH", "url": "https://omabrowser.org/oma/group/DKVGNSH/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "537490at2759", "url": "http://www.orthodb.org/?query=537490at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12544", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12544", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12544:SF33", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12544:SF33", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "4BQM", "url": "https://www.rcsb.org/structure/4BQM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5U0K", "url": "https://www.rcsb.org/structure/5U0K", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF04960", "url": "http://pfam.xfam.org/family/PF04960", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12796", "url": "http://pfam.xfam.org/family/PF12796", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF17959", "url": "http://pfam.xfam.org/family/PF17959", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q9UI32", "url": "https://pharos.nih.gov/targets/Q9UI32", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q9UI32", "url": "http://purl.obolibrary.org/obo/PR_Q9UI32", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001267727", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001267727", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "15889", "url": "https://www.rhea-db.org/rhea/15889", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A087X004", "url": "https://www.uniprot.org/uniprot/A0A087X004", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087X004-1", "url": "https://www.uniprot.org/uniprot/A0A087X004-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8K0A6", "url": "https://www.uniprot.org/uniprot/A8K0A6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8K0A6-1", "url": "https://www.uniprot.org/uniprot/A8K0A6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J3Q2", "url": "https://www.uniprot.org/uniprot/C9J3Q2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J3Q2-1", "url": "https://www.uniprot.org/uniprot/C9J3Q2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5G745", "url": "https://www.uniprot.org/uniprot/E5G745", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5G745-1", "url": "https://www.uniprot.org/uniprot/E5G745-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WBC9", "url": "https://www.uniprot.org/uniprot/F8WBC9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WBC9-1", "url": "https://www.uniprot.org/uniprot/F8WBC9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WBL8", "url": "https://www.uniprot.org/uniprot/F8WBL8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WBL8-1", "url": "https://www.uniprot.org/uniprot/F8WBL8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WEU7", "url": "https://www.uniprot.org/uniprot/F8WEU7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WEU7-1", "url": "https://www.uniprot.org/uniprot/F8WEU7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G5E9X4", "url": "https://www.uniprot.org/uniprot/G5E9X4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G5E9X4-1", "url": "https://www.uniprot.org/uniprot/G5E9X4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9UI32", "url": "https://www.uniprot.org/uniprot/Q9UI32", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9UI32-1", "url": "https://www.uniprot.org/uniprot/Q9UI32-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9UI32-2", "url": "https://www.uniprot.org/uniprot/Q9UI32-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRSMKALQKALSRAGSHCGRGGWGHPSRSPLLGGGVRHHLSEAAAQGRETPHSHQPQHQDHDSSESGMLSRLGDLLFYTIAEGQERIPIHKFTTALKATGLQTSDPRLRDCMSEMHRVVQESSSGGLLDRDLFRKCVSSNIVLLTQAFRKKFVIPDFEEFTGHVDRIFEDVKELTGGKVAAYIPQLAKSNPDLWGVSLCTVDGQRHSVGHTKIPFCLQSCVKPLTYAISISTLGTDYVHKFVGKEPSGLRYNKLSLNEEGIPHNPMVNAGAIVVSSLIKMDCNKAEKFDFVLQYLNKMAGNEYMGFSNATFQSEKETGDRNYAIGYYLKEKKCFPKGVDMMAALDLYFQLCSVEVTCESGSVMAATLANGGICPITGESVLSAEAVRNTLSLMHSCGMYDFSGQFAFHVGLPAKSAVSGAILLVVPNVMGMMCLSPPLDKLGNSHRGTSFCQKLVSLFNFHNYDNLRHCARKLDPRREGAEIRNKTVVNLLFAAYSGDVSALRRFALSAMDMEQKDYDSRTALHVAAAEGHIEVVKFLIEACKVNPFAKDRWGNIPLDDAVQFNHLEVVKLLQDYQDSYTLSETQAEAAAEALSKENLESMV", "length": 602, "header": "sp|Q9UI32-1|GLSL_HUMAN Isoform 1 of Glutaminase liver isoform, mitochondrial OS=Homo sapiens OX=9606 GN=GLS2 PE=1 SV=2 CANONICAL=Q9UI32-1" }, "isoforms": [ { "isoform_ac": "A0A087X004-1", "url": "", "sequence": { "sequence": "MVNAGAIVVSSLIKMDCNKAEKFDFVLQYLNKMAGNEYMGFSNATFQSEKETGDRNYAIGYYLKEKKCFPKGVDMMAALDLYFQLCSVEVTCESGSVMAATLANGGICPITGESVLSAEAVRNTLSLMHSCGMYDFSGQFAFHVGLPAKSAVSGAILLVVPNVMGMMCLSPPLDKLGNSHRGTSFCQKLVSLFNFHNYDNLRHCARKLDPRREGAEIRNKTVVNLLFAAYSGDVSALRRFALSAMDMEQKDYDSRTALHVAAAEGHIEVVKFLIEACKVNPFAKDRWGNIPLDDAVQFNHLEVVKLLQDYQDSYTLSETQAEAAAEALSKENLESMV", "length": 337, "header": "tr|A0A087X004-1|A0A087X004_HUMAN Computationally mapped isoform of glutaminase OS=Homo sapiens OX=9606 GN=GLS2 PE=1 SV=1 CANONICAL=Q9UI32-1" }, "locus": { "chromosome": "12", "start_pos": 56477701, "end_pos": 56471490, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000610413.4", "url": "https://www.ensembl.org/id/ENST00000610413.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000483010.1", "url": "https://www.ensembl.org/id/ENSP00000483010.1" } ] } }, { "isoform_ac": "A8K0A6-1", "url": "", "sequence": { "sequence": "MRSMKALQKALSRAGSHCGRGGWGHPSRSPLLGGGVRHHLSEAAAQGRETPHSHQPQHQDHDSSESGMLSRLGDLLFYTIAEGQERIPIHKFTTALKATGLQTSDPRLRDCMSEMHRVVQESSSGGLLDRDLFRKWQPTSLSWPSQTQTCGVSPCALWMVNGTLWATQRSPSACSPV", "length": 177, "header": "tr|A8K0A6-1|A8K0A6_HUMAN Computationally mapped isoform of cDNA FLJ76505, highly similar to Homo sapiens glutaminase 2 (liver, mitochondrial) (GLS2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA OS=Homo sapiens OX=9606 GN=GLS2 PE=1 SV=1 CANONICAL=Q9UI32-1" }, "locus": { "chromosome": "12", "start_pos": 56488118, "end_pos": 56478050, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000424141.6", "url": "https://www.ensembl.org/id/ENST00000424141.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000416282.2", "url": "https://www.ensembl.org/id/ENSP00000416282.2" } ] } }, { "isoform_ac": "C9J3Q2-1", "url": "", "sequence": { "sequence": "MRSMKALQKALSRAGSHCGRGGWGHPSRSPLLGGGVRHHLSEAAAQGRETPHSHQPQHQDHDSSESGMLSRLGDLLFYTIAEGQERIPIHKFTTALKATGLQTSDPRLRDCMSEMHRVVQESSSGGLLDRDLFRKWTVTKQRSLILCCSISTKWLGMNTWVSAMPHSSQRRKQGIGIMPSAIIS", "length": 184, "header": "tr|C9J3Q2-1|C9J3Q2_HUMAN Computationally mapped isoform of Glutaminase 2 OS=Homo sapiens OX=9606 GN=GLS2 PE=1 SV=1 CANONICAL=Q9UI32-1" }, "locus": { "chromosome": "12", "start_pos": 56488118, "end_pos": 56475055, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000461077.1", "url": "https://www.ensembl.org/id/ENST00000461077.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000417244.1", "url": "https://www.ensembl.org/id/ENSP00000417244.1" } ] } }, { "isoform_ac": "E5G745-1", "url": "", "sequence": { "sequence": "MLQKEEQVAVLRPHFPPHSLPPNSDSSESGMLSRLGDLLFYTIAEGQERIPIHKFTTALKATGLQTSDPRLRDCMSEMHRVVQESSSGGLLDRDLFRKCVSSNIVLLTQAFRKKFVIPDFEEFTGHVDRIFEDVKELTGGKVAAYIPQLAKSNPDLWGVSLCTVDGQRHSVGHTKIPFCLQSCVKPLTYAISISTLGTDYVHKFVGKEPSGLRYNKLSLNEEGIPHNPMVNAGAIVVSSLIKMDCNKAEKFDFVLQYLNKMAGNEYMGFSNATAFLRGWT", "length": 280, "header": "tr|E5G745-1|E5G745_HUMAN Computationally mapped isoform of glutaminase OS=Homo sapiens OX=9606 GN=GLS2 PE=1 SV=1 CANONICAL=Q9UI32-1" }, "locus": { "chromosome": "12", "start_pos": 56480458, "end_pos": 56474875, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000539272.5", "url": "https://www.ensembl.org/id/ENST00000539272.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000441739.2", "url": "https://www.ensembl.org/id/ENSP00000441739.2" } ] } }, { "isoform_ac": "F8WBC9-1", "url": "", "sequence": { "sequence": "MRSMKALQKALSRAGSHCGRGGWGHPSRSPLLGGGVRHHLSEAAAQGRETPHSHQPQHQDQH", "length": 62, "header": "tr|F8WBC9-1|F8WBC9_HUMAN Computationally mapped isoform of Glutaminase 2 OS=Homo sapiens OX=9606 GN=GLS2 PE=4 SV=1 CANONICAL=Q9UI32-1" }, "locus": { "chromosome": "12", "start_pos": 56488118, "end_pos": 56479898, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000483347.1", "url": "https://www.ensembl.org/id/ENST00000483347.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000417723.1", "url": "https://www.ensembl.org/id/ENSP00000417723.1" } ] } }, { "isoform_ac": "F8WBL8-1", "url": "", "sequence": { "sequence": "MRSMKALQKALSRAGSHCGRGGWGHPSRSPLLGGGVRHHLSEAAAQGRETPHSHQPQHQDHDSSESGMLSRLGDLLFYTIAEGQERIPIHKFTTALKATGLQTSDPRLRDCMSEMHRVVQESSSGGLLDRDLFRKCCSISTKWLGMNTWVSAMPLLS", "length": 157, "header": "tr|F8WBL8-1|F8WBL8_HUMAN Computationally mapped isoform of Glutaminase 2 OS=Homo sapiens OX=9606 GN=GLS2 PE=1 SV=1 CANONICAL=Q9UI32-1" }, "locus": { "chromosome": "12", "start_pos": 56488118, "end_pos": 56474889, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000479952.5", "url": "https://www.ensembl.org/id/ENST00000479952.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000417796.1", "url": "https://www.ensembl.org/id/ENSP00000417796.1" } ] } }, { "isoform_ac": "F8WEU7-1", "url": "", "sequence": { "sequence": "MRSMKALQKALSRAGSHCGRGGWGHPSRSPLLGGGVRHHLSEAAAQGRETPHSHQPQHQDQWQPTSLSWPSQTQTCGVSPCALWMVNGTLWATQRSPSACSPV", "length": 103, "header": "tr|F8WEU7-1|F8WEU7_HUMAN Computationally mapped isoform of Glutaminase 2 OS=Homo sapiens OX=9606 GN=GLS2 PE=4 SV=1 CANONICAL=Q9UI32-1" }, "locus": { "chromosome": "12", "start_pos": 56488118, "end_pos": 56478050, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000494474.5", "url": "https://www.ensembl.org/id/ENST00000494474.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000419996.1", "url": "https://www.ensembl.org/id/ENSP00000419996.1" } ] } }, { "isoform_ac": "G5E9X4-1", "url": "", "sequence": { "sequence": "MRSMKALQKALSRAGSHCGRGGWGHPSRSPLLGGGVRHHLSEAAAQGRETPHSHQPQHQDHDSSESGMLSRLGDLLFYTIAEGQERIPIHKFTTALKATGLQTSDPRLRDCMSEMHRVVQESSSGGLLDRDLFRKCVSSNIVLLTQAFRKKFVIPDFEEFTGHVDRIFEDVKELTGGKVAAYIPQLAKSNPDLWGVSLCTVDGQRHSVGHTKIPFCLQSCVKPLTYAISISTLGTDYVHKFVGKEPSGLRYNKLSLNEEGIPHNPMVNAGAIVVSSLIKMDCNKAEKFDFVLQYLNKMAGNEYMGFSNATEGNFSPSPNTHSSNFKY", "length": 327, "header": "tr|G5E9X4-1|G5E9X4_HUMAN Computationally mapped isoform of glutaminase OS=Homo sapiens OX=9606 GN=GLS2 PE=1 SV=1 CANONICAL=Q9UI32-1" }, "locus": { "chromosome": "12", "start_pos": 56488118, "end_pos": 56475132, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000486433.5", "url": "https://www.ensembl.org/id/ENST00000486433.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000420328.1", "url": "https://www.ensembl.org/id/ENSP00000420328.1" } ] } }, { "isoform_ac": "Q9UI32-1", "url": "", "sequence": { "sequence": "MRSMKALQKALSRAGSHCGRGGWGHPSRSPLLGGGVRHHLSEAAAQGRETPHSHQPQHQDHDSSESGMLSRLGDLLFYTIAEGQERIPIHKFTTALKATGLQTSDPRLRDCMSEMHRVVQESSSGGLLDRDLFRKCVSSNIVLLTQAFRKKFVIPDFEEFTGHVDRIFEDVKELTGGKVAAYIPQLAKSNPDLWGVSLCTVDGQRHSVGHTKIPFCLQSCVKPLTYAISISTLGTDYVHKFVGKEPSGLRYNKLSLNEEGIPHNPMVNAGAIVVSSLIKMDCNKAEKFDFVLQYLNKMAGNEYMGFSNATFQSEKETGDRNYAIGYYLKEKKCFPKGVDMMAALDLYFQLCSVEVTCESGSVMAATLANGGICPITGESVLSAEAVRNTLSLMHSCGMYDFSGQFAFHVGLPAKSAVSGAILLVVPNVMGMMCLSPPLDKLGNSHRGTSFCQKLVSLFNFHNYDNLRHCARKLDPRREGAEIRNKTVVNLLFAAYSGDVSALRRFALSAMDMEQKDYDSRTALHVAAAEGHIEVVKFLIEACKVNPFAKDRWGNIPLDDAVQFNHLEVVKLLQDYQDSYTLSETQAEAAAEALSKENLESMV", "length": 602, "header": "sp|Q9UI32-1|GLSL_HUMAN Isoform 1 of Glutaminase liver isoform, mitochondrial OS=Homo sapiens OX=9606 GN=GLS2 PE=1 SV=2 CANONICAL=Q9UI32-1" }, "locus": { "chromosome": "12", "start_pos": 56488118, "end_pos": 56471490, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000311966.9", "url": "https://www.ensembl.org/id/ENST00000311966.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000310447.4", "url": "https://www.ensembl.org/id/ENSP00000310447.4" } ] } }, { "isoform_ac": "Q9UI32-2", "url": "", "sequence": { "sequence": "MRSMKALQKALSRAGSHCGRGGWGHPSRSPLLGGGVRHHLSEAAAQGRETPHSHQPQHQDHDSSESGMLSRLGDLLFYTIAEGQERIPIHKFTTALKATGLQTSDPRLRDCMSEMHRVVQESSSGGLLDRDLFRKHSERSLSFLILRSSRAMWIASLRMSKSSLEAKWQPTSLSWPSQTQTCGVSPCALWMVNGTLWATQRSPSACSPV", "length": 209, "header": "sp|Q9UI32-2|GLSL_HUMAN Isoform 2 of Glutaminase liver isoform, mitochondrial OS=Homo sapiens OX=9606 GN=GLS2 PE=1 SV=2 CANONICAL=Q9UI32-1" }, "locus": { "chromosome": "12", "start_pos": 56488118, "end_pos": 56478050, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000486896.5", "url": "https://www.ensembl.org/id/ENST00000486896.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000419661.1", "url": "https://www.ensembl.org/id/ENSP00000419661.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Importance of glucose-6-phosphate dehydrogenase activity in cell death.", "journal": "The American journal of physiology", "date": "1999", "authors": "Tian WN, Braunstein LD, Apse K, Pang J, Rose M, Tian X, Stanton RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "10329961", "url": "https://glygen.org/publication/PubMed/10329961" } ] }, { "title": "Munc13-1 is essential for fusion competence of glutamatergic synaptic vesicles.", "journal": "Nature", "date": "1999", "authors": "Augustin I, Rosenmund C, Sudhof TC, Brose N", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "10440375", "url": "https://glygen.org/publication/PubMed/10440375" } ] }, { "title": "Molecular cloning, sequencing and expression studies of the human breast cancer cell glutaminase.", "journal": "Biochem. J.", "date": "2000", "authors": "Gomez-Fabre PM, Aledo JC, Del Castillo-Olivares A, Alonso FJ, Nunez De Castro I, Campos JA, Marquez J", "evidence": [ { "database": "UniProtKB", "id": "Q9UI32", "url": "https://www.uniprot.org/uniprot/Q9UI32" }, { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "10620514", "url": "https://glygen.org/publication/PubMed/10620514" } ] }, { "title": "A ribonucleotide reductase gene involved in a p53-dependent cell-cycle checkpoint for DNA damage.", "journal": "Nature", "date": "2000", "authors": "Tanaka H, Arakawa H, Yamaguchi T, Shiraishi K, Fukuda S, Matsui K, Takei Y, Nakamura Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "10716435", "url": "https://glygen.org/publication/PubMed/10716435" } ] }, { "title": "Human glucose-6-phosphate dehydrogenase: the crystal structure reveals a structural NADP(+) molecule and provides insights into enzyme deficiency.", "journal": "Structure (London, England : 1993)", "date": "2000", "authors": "Au SW, Gover S, Lam VM, Adams MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "10745013", "url": "https://glygen.org/publication/PubMed/10745013" } ] }, { "title": "A ribonucleotide reductase gene is a transcriptional target of p53 and p73.", "journal": "Oncogene", "date": "2000", "authors": "Nakano K, Balint E, Ashcroft M, Vousden KH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "10980602", "url": "https://glygen.org/publication/PubMed/10980602" } ] }, { "title": "Identification of a vesicular glutamate transporter that defines a glutamatergic phenotype in neurons.", "journal": "Nature", "date": "2000", "authors": "Takamori S, Rhee JS, Rosenmund C, Jahn R", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "11001057", "url": "https://glygen.org/publication/PubMed/11001057" } ] }, { "title": "Cloning and analysis of unique human glutaminase isoforms generated by tissue-specific alternative splicing.", "journal": "Physiological genomics", "date": "1999", "authors": "Elgadi KM, Meguid RA, Qian M, Souba WW, Abcouwer SF", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "11015561", "url": "https://glygen.org/publication/PubMed/11015561" } ] }, { "title": "Overexpression of fructose 2,6-bisphosphatase decreases glycolysis and delays cell cycle progression.", "journal": "American journal of physiology. Cell physiology", "date": "2000", "authors": "Perez JX, Roig T, Manzano A, Dalmau M, Boada J, Ventura F, Rosa JL, Bermudez J, Bartrons R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "11029283", "url": "https://glygen.org/publication/PubMed/11029283" } ] }, { "title": "Cells overexpressing fructose-2,6-bisphosphatase showed enhanced pentose phosphate pathway flux and resistance to oxidative stress.", "journal": "FEBS letters", "date": "2000", "authors": "Boada J, Roig T, Perez X, Gamez A, Bartrons R, Cascante M, Bermudez J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "11034341", "url": "https://glygen.org/publication/PubMed/11034341" } ] }, { "title": "The C-terminus of human glutaminase L mediates association with PDZ domain-containing proteins.", "journal": "FEBS Lett.", "date": "2001", "authors": "Olalla L, Aledo JC, Bannenberg G, Marquez J", "evidence": [ { "database": "UniProtKB", "id": "Q9UI32", "url": "https://www.uniprot.org/uniprot/Q9UI32" } ], "reference": [ { "type": "PubMed", "id": "11163757", "url": "https://glygen.org/publication/PubMed/11163757" } ] }, { "title": "Modulation of the neuronal glutamate transporter EAAC1 by the interacting protein GTRAP3-18.", "journal": "Nature", "date": "2001", "authors": "Lin CI, Orlov I, Ruggiero AM, Dykes-Hoberg M, Lee A, Jackson M, Rothstein JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "11242046", "url": "https://glygen.org/publication/PubMed/11242046" } ] }, { "title": "Structures and proton-pumping strategies of mitochondrial respiratory enzymes.", "journal": "Annual review of biophysics and biomolecular structure", "date": "2001", "authors": "Schultz BE, Chan SI", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "11340051", "url": "https://glygen.org/publication/PubMed/11340051" } ] }, { "title": "Growth factors can influence cell growth and survival through effects on glucose metabolism.", "journal": "Molecular and cellular biology", "date": "2001", "authors": "Vander Heiden MG, Plas DR, Rathmell JC, Fox CJ, Harris MH, Thompson CB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "11486029", "url": "https://glygen.org/publication/PubMed/11486029" } ] }, { "title": "Regulation of PTEN transcription by p53.", "journal": "Molecular cell", "date": "2001", "authors": "Stambolic V, MacPherson D, Sas D, Lin Y, Snow B, Jang Y, Benchimol S, Mak TW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "11545734", "url": "https://glygen.org/publication/PubMed/11545734" } ] }, { "title": "Glutamine uptake by neurons: interaction of protons with system a transporters.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2002", "authors": "Chaudhry FA, Schmitz D, Reimer RJ, Larsson P, Gray AT, Nicoll R, Kavanaugh M, Edwards RH", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "11756489", "url": "https://glygen.org/publication/PubMed/11756489" } ] }, { "title": "Expression, purification and characterization of human glutamate dehydrogenase (GDH) allosteric regulatory mutations.", "journal": "The Biochemical journal", "date": "2002", "authors": "Fang J, Hsu BY, MacMullen CM, Poncz M, Smith TJ, Stanley CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "11903050", "url": "https://glygen.org/publication/PubMed/11903050" } ] }, { "title": "p53 regulates cell survival by inhibiting PIK3CA in squamous cell carcinomas.", "journal": "Genes & development", "date": "2002", "authors": "Singh B, Reddy PG, Goberdhan A, Walsh C, Dao S, Ngai I, Chou TC, O-Charoenrat P, Levine AJ, Rao PH, Stoffel A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "11959846", "url": "https://glygen.org/publication/PubMed/11959846" } ] }, { "title": "The structure of apo human glutamate dehydrogenase details subunit communication and allostery.", "journal": "Journal of molecular biology", "date": "2002", "authors": "Smith TJ, Schmidt T, Fang J, Wu J, Siuzdak G, Stanley CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "12054821", "url": "https://glygen.org/publication/PubMed/12054821" } ] }, { "title": "Inactivation of human peroxiredoxin I during catalysis as the result of the oxidation of the catalytic site cysteine to cysteine-sulfinic acid.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Yang KS, Kang SW, Woo HA, Hwang SC, Chae HZ, Kim K, Rhee SG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "12161445", "url": "https://glygen.org/publication/PubMed/12161445" } ] }, { "title": "Nuclear localization of L-type glutaminase in mammalian brain.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Olalla L, Gutierrez A, Campos JA, Khan ZU, Alonso FJ, Segura JA, Marquez J, Aledo JC", "evidence": [ { "database": "RefSeq", "id": "NP_001267727", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001267727" } ], "reference": [ { "type": "PubMed", "id": "12163477", "url": "https://glygen.org/publication/PubMed/12163477" } ] }, { "title": "Identification of a novel stress-responsive gene Hi95 involved in regulation of cell viability.", "journal": "Oncogene", "date": "2002", "authors": "Budanov AV, Shoshani T, Faerman A, Zelin E, Kamer I, Kalinski H, Gorodin S, Fishman A, Chajut A, Einat P, Skaliter R, Gudkov AV, Chumakov PM, Feinstein E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "12203114", "url": "https://glygen.org/publication/PubMed/12203114" } ] }, { "title": "14-3-3 interacts with the tumor suppressor tuberin at Akt phosphorylation site(s).", "journal": "Cancer research", "date": "2002", "authors": "Liu MY, Cai S, Espejo A, Bedford MT, Walker CL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "12438239", "url": "https://glygen.org/publication/PubMed/12438239" } ] }, { "title": "Genomic organization and transcriptional analysis of the human l-glutaminase gene.", "journal": "Biochem. J.", "date": "2003", "authors": "Perez-Gomez C, Mates JM, Gomez-Fabre PM, del Castillo-Olivares A, Alonso FJ, Marquez J", "evidence": [ { "database": "UniProtKB", "id": "Q9UI32", "url": "https://www.uniprot.org/uniprot/Q9UI32" } ], "reference": [ { "type": "PubMed", "id": "12444921", "url": "https://glygen.org/publication/PubMed/12444921" } ] }, { "title": "REDD1, a developmentally regulated transcriptional target of p63 and p53, links p63 to regulation of reactive oxygen species.", "journal": "Molecular cell", "date": "2002", "authors": "Ellisen LW, Ramsayer KD, Johannessen CM, Yang A, Beppu H, Minda K, Oliner JD, McKeon F, Haber DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "12453409", "url": "https://glygen.org/publication/PubMed/12453409" } ] }, { "title": "Phosphorylation of Munc18 by protein kinase C regulates the kinetics of exocytosis.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Barclay JW, Craig TJ, Fisher RJ, Ciufo LF, Evans GJ, Morgan A, Burgoyne RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "12519779", "url": "https://glygen.org/publication/PubMed/12519779" } ] }, { "title": "Peroxiredoxin evolution and the regulation of hydrogen peroxide signaling.", "journal": "Science (New York, N.Y.)", "date": "2003", "authors": "Wood ZA, Poole LB, Karplus PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "12714747", "url": "https://glygen.org/publication/PubMed/12714747" } ] }, { "title": "Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling.", "journal": "Genes & development", "date": "2003", "authors": "Inoki K, Li Y, Xu T, Guan KL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "12869586", "url": "https://glygen.org/publication/PubMed/12869586" } ] }, { "title": "Tuberous sclerosis complex gene products, Tuberin and Hamartin, control mTOR signaling by acting as a GTPase-activating protein complex toward Rheb.", "journal": "Current biology : CB", "date": "2003", "authors": "Tee AR, Manning BD, Roux PP, Cantley LC, Blenis J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "12906785", "url": "https://glygen.org/publication/PubMed/12906785" } ] }, { "title": "On the origin of cancer cells.", "journal": "Science (New York, N.Y.)", "date": "1956", "authors": "WARBURG O", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "13298683", "url": "https://glygen.org/publication/PubMed/13298683" } ] }, { "title": "Enzymes of the human erythrocyte. IV. Phosphoglucose isomerase, purification and properties.", "journal": "The Journal of biological chemistry", "date": "1958", "authors": "TSUBOI KK, ESTRADA J, HUDSON PB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "13538944", "url": "https://glygen.org/publication/PubMed/13538944" } ] }, { "title": "TSC2 mediates cellular energy response to control cell growth and survival.", "journal": "Cell", "date": "2003", "authors": "Inoki K, Zhu T, Guan KL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "14651849", "url": "https://glygen.org/publication/PubMed/14651849" } ] }, { "title": "Glucose-6-phosphate dehydrogenase plays a crucial role in protection from redox-stress-induced apoptosis.", "journal": "Cell death and differentiation", "date": "2004", "authors": "Fico A, Paglialunga F, Cigliano L, Abrescia P, Verde P, Martini G, Iaccarino I, Filosa S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "15044966", "url": "https://glygen.org/publication/PubMed/15044966" } ] }, { "title": "Regeneration of peroxiredoxins by p53-regulated sestrins, homologs of bacterial AhpD.", "journal": "Science (New York, N.Y.)", "date": "2004", "authors": "Budanov AV, Sablina AA, Feinstein E, Koonin EV, Chumakov PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "15105503", "url": "https://glygen.org/publication/PubMed/15105503" } ] }, { "title": "Proton pump coupled to cytochrome c oxidase in mitochondria.", "journal": "Nature", "date": "1977", "authors": "Wikstrom MK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "15223", "url": "https://glygen.org/publication/PubMed/15223" } ] }, { "title": "Crystal structure of human kynurenine aminotransferase I.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Rossi F, Han Q, Li J, Li J, Rizzi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "15364907", "url": "https://glygen.org/publication/PubMed/15364907" } ] }, { "title": "Signaling pathways: the benefits of good communication.", "journal": "Current biology : CB", "date": "2004", "authors": "Fisher TL, White MF", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "15589136", "url": "https://glygen.org/publication/PubMed/15589136" } ] }, { "title": "Munc18-1 stabilizes syntaxin 1, but is not essential for syntaxin 1 targeting and SNARE complex formation.", "journal": "Journal of neurochemistry", "date": "2005", "authors": "Toonen RF, de Vries KJ, Zalm R, Sudhof TC, Verhage M", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "15935055", "url": "https://glygen.org/publication/PubMed/15935055" } ] }, { "title": "Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures.", "journal": "Neurology", "date": "2005", "authors": "Jen JC, Wan J, Palos TP, Howard BD, Baloh RW", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "16116111", "url": "https://glygen.org/publication/PubMed/16116111" } ] }, { "title": "Identification of novel p53 target genes in ionizing radiation response.", "journal": "Cancer research", "date": "2005", "authors": "Jen KY, Cheung VG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "16140933", "url": "https://glygen.org/publication/PubMed/16140933" } ] }, { "title": "Congenital glutamine deficiency with glutamine synthetase mutations.", "journal": "The New England journal of medicine", "date": "2005", "authors": "Haberle J, Gorg B, Rutsch F, Schmidt E, Toutain A, Benoist JF, Gelot A, Suc AL, Hohne W, Schliess F, Haussinger D, Koch HG", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "16267323", "url": "https://glygen.org/publication/PubMed/16267323" } ] }, { "title": "A global map of p53 transcription-factor binding sites in the human genome.", "journal": "Cell", "date": "2006", "authors": "Wei CL, Wu Q, Vega VB, Chiu KP, Ng P, Zhang T, Shahab A, Yong HC, Fu Y, Weng Z, Liu J, Zhao XD, Chew JL, Lee YL, Kuznetsov VA, Sung WK, Miller LD, Lim B, Liu ET, Yu Q, Ng HH, Ruan Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "16413492", "url": "https://glygen.org/publication/PubMed/16413492" } ] }, { "title": "Localization of the Na(+)-coupled neutral amino acid transporter 2 in the cerebral cortex.", "journal": "Neuroscience", "date": "2006", "authors": "Melone M, Varoqui H, Erickson JD, Conti F", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "16616430", "url": "https://glygen.org/publication/PubMed/16616430" } ] }, { "title": "Activity of TSC2 is inhibited by AKT-mediated phosphorylation and membrane partitioning.", "journal": "The Journal of cell biology", "date": "2006", "authors": "Cai SL, Tee AR, Short JD, Bergeron JM, Kim J, Shen J, Guo R, Johnson CL, Kiguchi K, Walker CL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "16636147", "url": "https://glygen.org/publication/PubMed/16636147" } ] }, { "title": "p53 regulates mitochondrial respiration.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Matoba S, Kang JG, Patino WD, Wragg A, Boehm M, Gavrilova O, Hurley PJ, Bunz F, Hwang PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "16728594", "url": "https://glygen.org/publication/PubMed/16728594" } ] }, { "title": "Crystal structure of human pyrroline-5-carboxylate reductase.", "journal": "Journal of molecular biology", "date": "2006", "authors": "Meng Z, Lou Z, Liu Z, Li M, Zhao X, Bartlam M, Rao Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "16730026", "url": "https://glygen.org/publication/PubMed/16730026" } ] }, { "title": "Assembly of mitochondrial cytochrome c-oxidase, a complicated and highly regulated cellular process.", "journal": "American journal of physiology. Cell physiology", "date": "2006", "authors": "Fontanesi F, Soto IC, Horn D, Barrientos A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "16760263", "url": "https://glygen.org/publication/PubMed/16760263" } ] }, { "title": "TIGAR, a p53-inducible regulator of glycolysis and apoptosis.", "journal": "Cell", "date": "2006", "authors": "Bensaad K, Tsuruta A, Selak MA, Vidal MN, Nakano K, Bartrons R, Gottlieb E, Vousden KH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "16839880", "url": "https://glygen.org/publication/PubMed/16839880" } ] }, { "title": "Biogenesis of eukaryotic cytochrome c oxidase.", "journal": "Physiological research", "date": "2006", "authors": "Stiburek L, Hansikova H, Tesarova M, Cerna L, Zeman J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "17298220", "url": "https://glygen.org/publication/PubMed/17298220" } ] }, { "title": "Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Brody LC, Mitchell GA, Obie C, Michaud J, Steel G, Fontaine G, Robert MF, Sipila I, Kaiser-Kupfer M, Valle D", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "1737786", "url": "https://glygen.org/publication/PubMed/1737786" } ] }, { "title": "How synaptotagmin promotes membrane fusion.", "journal": "Science (New York, N.Y.)", "date": "2007", "authors": "Martens S, Kozlov MM, McMahon HT", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "17478680", "url": "https://glygen.org/publication/PubMed/17478680" } ] }, { "title": "Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.", "journal": "Nature genetics", "date": "2007", "authors": "Bourdon A, Minai L, Serre V, Jais JP, Sarzi E, Aubert S, Chretien D, de Lonlay P, Paquis-Flucklinger V, Arakawa H, Nakamura Y, Munnich A, Rotig A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "17486094", "url": "https://glygen.org/publication/PubMed/17486094" } ] }, { "title": "NGF-mediated transcriptional targets of p53 in PC12 neuronal differentiation.", "journal": "BMC genomics", "date": "2007", "authors": "Brynczka C, Labhart P, Merrick BA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "17540029", "url": "https://glygen.org/publication/PubMed/17540029" } ] }, { "title": "Synaptotagmin activates membrane fusion through a Ca2+-dependent trans interaction with phospholipids.", "journal": "Nature structural & molecular biology", "date": "2007", "authors": "Stein A, Radhakrishnan A, Riedel D, Fasshauer D, Jahn R", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "17891149", "url": "https://glygen.org/publication/PubMed/17891149" } ] }, { "title": "Dual modes of Munc18-1/SNARE interactions are coupled by functionally critical binding to syntaxin-1 N terminus.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2007", "authors": "Khvotchev M, Dulubova I, Sun J, Dai H, Rizo J, Sudhof TC", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "17989281", "url": "https://glygen.org/publication/PubMed/17989281" } ] }, { "title": "Crystal structures of mammalian glutamine synthetases illustrate substrate-induced conformational changes and provide opportunities for drug and herbicide design.", "journal": "Journal of molecular biology", "date": "2008", "authors": "Krajewski WW, Collins R, Holmberg-Schiavone L, Jones TA, Karlberg T, Mowbray SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "18005987", "url": "https://glygen.org/publication/PubMed/18005987" } ] }, { "title": "Hypoxia regulates TSC1/2-mTOR signaling and tumor suppression through REDD1-mediated 14-3-3 shuttling.", "journal": "Genes & development", "date": "2008", "authors": "DeYoung MP, Horak P, Sofer A, Sgroi D, Ellisen LW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "18198340", "url": "https://glygen.org/publication/PubMed/18198340" } ] }, { "title": "Sensorineural deafness and seizures in mice lacking vesicular glutamate transporter 3.", "journal": "Neuron", "date": "2008", "authors": "Seal RP, Akil O, Yi E, Weber CM, Grant L, Yoo J, Clause A, Kandler K, Noebels JL, Glowatzki E, Lustig LR, Edwards RH", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "18215623", "url": "https://glygen.org/publication/PubMed/18215623" } ] }, { "title": "Synaptic NMDA receptor activity boosts intrinsic antioxidant defenses.", "journal": "Nature neuroscience", "date": "2008", "authors": "Papadia S, Soriano FX, Leveille F, Martel MA, Dakin KA, Hansen HH, Kaindl A, Sifringer M, Fowler J, Stefovska V, McKenzie G, Craigon M, Corriveau R, Ghazal P, Horsburgh K, Yankner BA, Wyllie DJ, Ikonomidou C, Hardingham GE", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "18344994", "url": "https://glygen.org/publication/PubMed/18344994" } ] }, { "title": "p53 target genes sestrin1 and sestrin2 connect genotoxic stress and mTOR signaling.", "journal": "Cell", "date": "2008", "authors": "Budanov AV, Karin M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "18692468", "url": "https://glygen.org/publication/PubMed/18692468" } ] }, { "title": "Sestrin 2 is not a reductase for cysteine sulfinic acid of peroxiredoxins.", "journal": "Antioxidants & redox signaling", "date": "2009", "authors": "Woo HA, Bae SH, Park S, Rhee SG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "19113821", "url": "https://glygen.org/publication/PubMed/19113821" } ] }, { "title": "Structural insight into the inhibition of human kynurenine aminotransferase I/glutamine transaminase K.", "journal": "Journal of medicinal chemistry", "date": "2009", "authors": "Han Q, Robinson H, Cai T, Tagle DA, Li J", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "19338303", "url": "https://glygen.org/publication/PubMed/19338303" } ] }, { "title": "p53 regulates mtDNA copy number and mitocheckpoint pathway.", "journal": "Journal of carcinogenesis", "date": "2009", "authors": "Kulawiec M, Ayyasamy V, Singh KK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "19439913", "url": "https://glygen.org/publication/PubMed/19439913" } ] }, { "title": "The PTEN-regulating microRNA miR-26a is amplified in high-grade glioma and facilitates gliomagenesis in vivo.", "journal": "Genes & development", "date": "2009", "authors": "Huse JT, Brennan C, Hambardzumyan D, Wee B, Pena J, Rouhanifard SH, Sohn-Lee C, le Sage C, Agami R, Tuschl T, Holland EC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "19487573", "url": "https://glygen.org/publication/PubMed/19487573" } ] }, { "title": "Mutations in PYCR1 cause cutis laxa with progeroid features.", "journal": "Nature genetics", "date": "2009", "authors": "Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Schmidt-von Kegler M, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Hausser I, Budde B, Nurnberg G, Nurnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "19648921", "url": "https://glygen.org/publication/PubMed/19648921" } ] }, { "title": "Role of sestrin2 in peroxide signaling in macrophages.", "journal": "FEBS letters", "date": "2009", "authors": "Essler S, Dehne N, Brune B", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "19822145", "url": "https://glygen.org/publication/PubMed/19822145" } ] }, { "title": "Integrative genome analysis reveals an oncomir/oncogene cluster regulating glioblastoma survivorship.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Kim H, Huang W, Jiang X, Pennicooke B, Park PJ, Johnson MD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "20080666", "url": "https://glygen.org/publication/PubMed/20080666" } ] }, { "title": "p53 regulation of the IGF-1/AKT/mTOR pathways and the endosomal compartment.", "journal": "Cold Spring Harbor perspectives in biology", "date": "2010", "authors": "Feng Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "20182617", "url": "https://glygen.org/publication/PubMed/20182617" } ] }, { "title": "Phosphate-activated glutaminase (GLS2), a p53-inducible regulator of glutamine metabolism and reactive oxygen species.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Suzuki S, Tanaka T, Poyurovsky MV, Nagano H, Mayama T, Ohkubo S, Lokshin M, Hosokawa H, Nakayama T, Suzuki Y, Sugano S, Sato E, Nagao T, Yokote K, Tatsuno I, Prives C", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "20351271", "url": "https://glygen.org/publication/PubMed/20351271" } ] }, { "title": "Glutaminase 2, a novel p53 target gene regulating energy metabolism and antioxidant function.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2010", "authors": "Hu W, Zhang C, Wu R, Sun Y, Levine A, Feng Z", "evidence": [ { "database": "UniProtKB", "id": "Q9UI32", "url": "https://www.uniprot.org/uniprot/Q9UI32" }, { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" }, { "database": "RefSeq", "id": "NP_001267727", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001267727" } ], "reference": [ { "type": "PubMed", "id": "20378837", "url": "https://glygen.org/publication/PubMed/20378837" } ] }, { "title": "Molecular identification of N-acetylaspartylglutamate synthase and beta-citrylglutamate synthase.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Collard F, Stroobant V, Lamosa P, Kapanda CN, Lambert DM, Muccioli GG, Poupaert JH, Opperdoes F, Van Schaftingen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "20657015", "url": "https://glygen.org/publication/PubMed/20657015" } ] }, { "title": "Physical exercise regulates p53 activity targeting SCO2 and increases mitochondrial COX biogenesis in cardiac muscle with age.", "journal": "PloS one", "date": "2011", "authors": "Qi Z, He J, Su Y, He Q, Liu J, Yu L, Al-Attas O, Hussain T, Ding S, Ji L, Qian M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "21750704", "url": "https://glygen.org/publication/PubMed/21750704" } ] }, { "title": "Biogenesis and assembly of eukaryotic cytochrome c oxidase catalytic core.", "journal": "Biochimica et biophysica acta", "date": "2012", "authors": "Soto IC, Fontanesi F, Liu J, Barrientos A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "21958598", "url": "https://glygen.org/publication/PubMed/21958598" } ] }, { "title": "Sestrin2 modulates AMPK subunit expression and its response to ionizing radiation in breast cancer cells.", "journal": "PloS one", "date": "2012", "authors": "Sanli T, Linher-Melville K, Tsakiridis T, Singh G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "22363791", "url": "https://glygen.org/publication/PubMed/22363791" } ] }, { "title": "NDUFA4 is a subunit of complex IV of the mammalian electron transport chain.", "journal": "Cell metabolism", "date": "2012", "authors": "Balsa E, Marco R, Perales-Clemente E, Szklarczyk R, Calvo E, Landazuri MO, Enriquez JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "22902835", "url": "https://glygen.org/publication/PubMed/22902835" } ] }, { "title": "Functional specialization in proline biosynthesis of melanoma.", "journal": "PloS one", "date": "2012", "authors": "De Ingeniis J, Ratnikov B, Richardson AD, Scott DA, Aza-Blanc P, De SK, Kazanov M, Pellecchia M, Ronai Z, Osterman AL, Smith JW", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "23024808", "url": "https://glygen.org/publication/PubMed/23024808" } ] }, { "title": "NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.", "journal": "Cell reports", "date": "2013", "authors": "Pitceathly RD, Rahman S, Wedatilake Y, Polke JM, Cirak S, Foley AR, Sailer A, Hurles ME, Stalker J, Hargreaves I, Woodward CE, Sweeney MG, Muntoni F, Houlden H, Taanman JW, Hanna MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "23746447", "url": "https://glygen.org/publication/PubMed/23746447" } ] }, { "title": "Diverse stresses dramatically alter genome-wide p53 binding and transactivation landscape in human cancer cells.", "journal": "Nucleic acids research", "date": "2013", "authors": "Menendez D, Nguyen TA, Freudenberg JM, Mathew VJ, Anderson CW, Jothi R, Resnick MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "23775793", "url": "https://glygen.org/publication/PubMed/23775793" } ] }, { "title": "Glucose-6-phosphate dehydrogenase: a biomarker and potential therapeutic target for cancer.", "journal": "Anti-cancer agents in medicinal chemistry", "date": "2014", "authors": "Zhang C, Zhang Z, Zhu Y, Qin S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "24066844", "url": "https://glygen.org/publication/PubMed/24066844" } ] }, { "title": "p53/TAp63 and AKT regulate mammalian target of rapamycin complex 1 (mTORC1) signaling through two independent parallel pathways in the presence of DNA damage.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Cam M, Bid HK, Xiao L, Zambetti GP, Houghton PJ, Cam H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "24366874", "url": "https://glygen.org/publication/PubMed/24366874" } ] }, { "title": "TIGAR, TIGAR, burning bright.", "journal": "Cancer & metabolism", "date": "2014", "authors": "Lee P, Vousden KH, Cheung EC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "24383451", "url": "https://glygen.org/publication/PubMed/24383451" } ] }, { "title": "Glutamate as a neurotransmitter in the healthy brain.", "journal": "Journal of neural transmission (Vienna, Austria : 1996)", "date": "2014", "authors": "Zhou Y, Danbolt NC", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "24578174", "url": "https://glygen.org/publication/PubMed/24578174" } ] }, { "title": "The tumor suppressor PTEN interacts with p53 in hereditary cancer (Review).", "journal": "International journal of oncology", "date": "2014", "authors": "Nakanishi A, Kitagishi Y, Ogura Y, Matsuda S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "24718924", "url": "https://glygen.org/publication/PubMed/24718924" } ] }, { "title": "Peroxiredoxin 1 promotes tumorigenesis through regulating the activity of mTOR/p70S6K pathway in esophageal squamous cell carcinoma.", "journal": "Medical oncology (Northwood, London, England)", "date": "2015", "authors": "Gong F, Hou G, Liu H, Zhang M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "25579166", "url": "https://glygen.org/publication/PubMed/25579166" } ] }, { "title": "Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.", "journal": "American journal of human genetics", "date": "2015", "authors": "Nakayama T, Al-Maawali A, El-Quessny M, Rajab A, Khalil S, Stoler JM, Tan WH, Nasir R, Schmitz-Abe K, Hill RS, Partlow JN, Al-Saffar M, Servattalab S, LaCoursiere CM, Tambunan DE, Coulter ME, Elhosary PC, Gorski G, Barkovich AJ, Markianos K, Poduri A, Mochida GH", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "25865492", "url": "https://glygen.org/publication/PubMed/25865492" } ] }, { "title": "Novel therapeutic interventions for p53-altered tumors through manipulation of its family members, p63 and p73.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2016", "authors": "Venkatanarayan A, Raulji P, Norton W, Flores ER", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "26652033", "url": "https://glygen.org/publication/PubMed/26652033" } ] }, { "title": "Purified human erythrocyte pyrroline-5-carboxylate reductase. Preferential oxidation of NADPH.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Merrill MJ, Yeh GC, Phang JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "2722838", "url": "https://glygen.org/publication/PubMed/2722838" } ] }, { "title": "The origin and evolution of human glutaminases and their atypical C-terminal ankyrin repeats.", "journal": "J. Biol. Chem.", "date": "2017", "authors": "Pasquali CC, Islam Z, Adamoski D, Ferreira IM, Righeto RD, Bettini J, Portugal RV, Yue WW, Gonzalez A, Dias SMG, Ambrosio ALB", "evidence": [ { "database": "UniProtKB", "id": "Q9UI32", "url": "https://www.uniprot.org/uniprot/Q9UI32" } ], "reference": [ { "type": "PubMed", "id": "28526749", "url": "https://glygen.org/publication/PubMed/28526749" } ] }, { "title": "Purification of phosphate-dependent glutaminase from isolated mitochondria of Ehrlich ascites-tumour cells.", "journal": "The Biochemical journal", "date": "1988", "authors": "Quesada AR, Sanchez-Jimenez F, Perez-Rodriguez J, Marquez J, Medina MA, Nunez de Castro I", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "3214421", "url": "https://glygen.org/publication/PubMed/3214421" } ] }, { "title": "Upregulation of glutaminase 2 and neutrophil cytosolic factor 2 is associated with the poor prognosis of glioblastoma.", "journal": "Biomarkers in medicine", "date": "2020", "authors": "Wang D, Liu J, Chen Q, Yang R, Jiang Q", "evidence": [ { "database": "RefSeq", "id": "NP_001267727", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001267727" } ], "reference": [ { "type": "PubMed", "id": "33179520", "url": "https://glygen.org/publication/PubMed/33179520" } ] }, { "title": "Glutaminase isoforms expression switches microRNA levels and oxidative status in glioblastoma cells.", "journal": "Journal of biomedical science", "date": "2021", "authors": "de Los Santos-Jimenez J, Campos-Sandoval JA, Marquez-Torres C, Urbano-Polo N, Brondegaard D, Martin-Rufian M, Lobo C, Penalver A, Gomez-Garcia MC, Martin-Campos J, Cardona C, Castilla L, da Costa Souza F, Cheng T, Segura JA, Alonso FJ, Curi R, Colquhoun A, DeBerardinis RJ, Marquez J, Mates JM", "evidence": [ { "database": "RefSeq", "id": "NP_001267727", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001267727" } ], "reference": [ { "type": "PubMed", "id": "33610185", "url": "https://glygen.org/publication/PubMed/33610185" } ] }, { "title": "Structure and activation mechanism of the human liver-type glutaminase GLS2.", "journal": "Biochimie", "date": "2021", "authors": "Ferreira IM, Quesnay JEN, Bastos AC, Rodrigues CT, Vollmar M, Krojer T, Strain-Damerell C, Burgess-Brown NA, von Delft F, Yue WW, Dias SM, Ambrosio AL", "evidence": [ { "database": "RefSeq", "id": "NP_001267727", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001267727" } ], "reference": [ { "type": "PubMed", "id": "33746066", "url": "https://glygen.org/publication/PubMed/33746066" } ] }, { "title": "GLS2 Is a Tumor Suppressor and a Regulator of Ferroptosis in Hepatocellular Carcinoma.", "journal": "Cancer research", "date": "2022", "authors": "Suzuki S, Venkatesh D, Kanda H, Nakayama A, Hosokawa H, Lee E, Miki T, Stockwell BR, Yokote K, Tanaka T, Prives C", "evidence": [ { "database": "RefSeq", "id": "NP_001267727", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001267727" } ], "reference": [ { "type": "PubMed", "id": "35895807", "url": "https://glygen.org/publication/PubMed/35895807" } ] }, { "title": "Partial amino acid sequence of the glutamate dehydrogenase of human liver and a revision of the sequence of the bovine enzyme.", "journal": "The Journal of biological chemistry", "date": "1979", "authors": "Julliard JH, Smith EL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "429360", "url": "https://glygen.org/publication/PubMed/429360" } ] }, { "title": "Enzymic properties of different types of human erythrocyte glucose-6-phosphate dehydrogenase, with characterization of two new genetic variants.", "journal": "The Journal of clinical investigation", "date": "1968", "authors": "Luzzatto L, Afolayan A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "5666113", "url": "https://glygen.org/publication/PubMed/5666113" } ] }, { "title": "Crystallization and properties of human liver ornithine aminotransferase.", "journal": "Journal of biochemistry", "date": "1982", "authors": "Ohura T, Kominami E, Tada K, Katunuma N", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "6819292", "url": "https://glygen.org/publication/PubMed/6819292" } ] }, { "title": "Molecular cloning and expression of a cDNA for human kidney cysteine conjugate beta-lyase.", "journal": "FEBS letters", "date": "1995", "authors": "Perry S, Harries H, Scholfield C, Lock T, King L, Gibson G, Goldfarb P", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "7883047", "url": "https://glygen.org/publication/PubMed/7883047" } ] }, { "title": "Energy transduction by cytochrome complexes in mitochondrial and bacterial respiration: the enzymology of coupling electron transfer reactions to transmembrane proton translocation.", "journal": "Annual review of biochemistry", "date": "1994", "authors": "Trumpower BL, Gennis RB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "7979252", "url": "https://glygen.org/publication/PubMed/7979252" } ] }, { "title": "The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia.", "journal": "The Journal of clinical investigation", "date": "1994", "authors": "Xu W, Beutler E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "7989588", "url": "https://glygen.org/publication/PubMed/7989588" } ] }, { "title": "Glucose-6-phosphate dehydrogenase: a `housekeeping` enzyme subject to tissue-specific regulation by hormones, nutrients, and oxidant stress.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "1994", "authors": "Kletzien RF, Harris PK, Foellmi LA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "8119488", "url": "https://glygen.org/publication/PubMed/8119488" } ] }, { "title": "Purification and characterization of kynurenine aminotransferase I from human brain.", "journal": "Journal of neurochemistry", "date": "1994", "authors": "Baran H, Okuno E, Kido R, Schwarcz R", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "8294935", "url": "https://glygen.org/publication/PubMed/8294935" } ] }, { "title": "Crystal structure of human recombinant ornithine aminotransferase.", "journal": "Journal of molecular biology", "date": "1998", "authors": "Shen BW, Hennig M, Hohenester E, Jansonius JN, Schirmer T", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "9514741", "url": "https://glygen.org/publication/PubMed/9514741" } ] }, { "title": "Interaction of Munc-18-2 with syntaxin 3 controls the association of apical SNAREs in epithelial cells.", "journal": "Journal of cell science", "date": "1998", "authors": "Riento K, Galli T, Jansson S, Ehnholm C, Lehtonen E, Olkkonen VM", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "9701566", "url": "https://glygen.org/publication/PubMed/9701566" } ] }, { "title": "PA26, a novel target of the p53 tumor suppressor and member of the GADD family of DNA damage and growth arrest inducible genes.", "journal": "Oncogene", "date": "1999", "authors": "Velasco-Miguel S, Buckbinder L, Jean P, Gelbert L, Talbott R, Laidlaw J, Seizinger B, Kley N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "9926927", "url": "https://glygen.org/publication/PubMed/9926927" } ] } ], "pathway": [ { "id": "hsa:27165", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:27165", "resource": "KEGG Pathway" }, { "id": "R-HSA-210500", "name": "Glutamate Neurotransmitter Release Cycle", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500", "resource": "Reactome", "description": "Glutamate Neurotransmitter Release Cycle" }, { "id": "R-HSA-5628897", "name": "TP53 Regulates Metabolic Genes", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897", "resource": "Reactome", "description": "TP53 Regulates Metabolic Genes" }, { "id": "R-HSA-8964539", "name": "Glutamate and glutamine metabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539", "resource": "Reactome", "description": "Glutamate and glutamine metabolism" } ], "orthologs": [ { "uniprot_canonical_ac": "P28492-1", "protein_name": "Glutaminase liver isoform, mitochondrial", "gene_name": "Gls2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MRSMRALQNALSRAGSHGQRGGWGHPSRGPLLGGGVRYYFGEAAAQGRGTPHSHQPQHSDHDASNSGMLPRLGDLLFYTIAEGQERIPIHKFTTALKATGLQTSDPRLQDCMSKMQRMVQESSSGGLLDRELFQKCVSSNIVLLTQAFRKKFVIPDFEEFTGHVDRIFEDAKELTGGKVAAYIPHLAKSNPDLWGVSLCTVDGQRHSVGHTKIPFCLQSCVKPLTYAISVSTLGTDYVHKFVGKEPSGLRYNKLSLNEEGIPHNPMVNAGAIVVSSLIKMDCNKAEKFDFVLQYLNKMAGNEFMGFSNATFQSEKETGDRNYAIGYYLKEKKCFPKGVDMMAALDLYFQLCSVEVTCESGSVMAATLANGGICPITGESVLSAEAVRNTLSLMHSCGMYDFSGQFAFHVGLPAKSAVSGAILLVVPNVMGMMCLSPPLDKLGNSHRGISFCQKLVSLFNFHNYDNLRHCARKLDPRREGGEVRNKTVVNLLFAAYSGDVSALRRFALSAVDMEQKDYDSRTALHVAAAEGHIDVVKFLIEACKVNPFVKDRWGNIPLDDAVQFNHLEVVKLLQDYHDSYMLSETQAEVAAETLSKENLESMV", "length": 602 }, "evidence": [ { "id": "45228858", "url": "http://www.informatics.jax.org/homology/45228858", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q571F8-1", "protein_name": "Glutaminase liver isoform, mitochondrial", "gene_name": "Gls2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MRSMRALQNALSRAGSHGRRGGWGHPSRGPLLGRGVRYYLGEAAAQGRGTPHSHQPQHSDHDASHSGMLPRLGDLLFYTIAEGQERIPIHKFTTALKATGLQTSDPRLQDCMSKMQRMVQESSSGGLLDRELFQKCVSSNIVLLTQAFRKKFVIPDFEEFTGHVDRIFEDAKEPTGGKVAAYIPHLAKSNPDLWGVSLCTVDGQRHSVGHTKIPFCLQSCVKPLTYAISVSTLGTDYVHKFVGKEPSGLRYNKLSLNEEGIPHNPMVNAGAIVVSSLIKMDCNKAEKFDFVLQYLNKMAGNEFMGFSNATFQSEKETGDRNYAIGYYLKEKKCFPKGVDMMAALDLYFQLCSVEVTCESGSVMAATLANGGICPITGESVLSAEAVRNTLSLMHSCGMYDFSGQFAFHVGLPAKSAVSGAILLVVPNVMGMMCLSPPLDKLGNSQRGINFCQKLVSLFNFHNYDNLRHCARKLDPRREGGEVRNKTVVNLLFAAYSGDVSALRRFALSAMDMEQKDYDSRTALHVAAAEGHIEVVKFLIEACKVNPFVKDRWGNIPLDDAVQFNHLEVVKLLQDYHDSYLLSETQAEAAAETLSKENLESMV", "length": 602 }, "evidence": [ { "id": "45228858", "url": "http://www.informatics.jax.org/homology/45228858", "database": "MGI" }, { "id": "Q9UI32", "url": "https://omabrowser.org/oma/group/Q9UI32/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "glutamine metabolic process", "id": "GO:0006541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006541", "evidence": [ { "database": "UniProtKB", "id": "Q9UI32", "url": "https://www.uniprot.org/uniprot/Q9UI32" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q9UI32", "url": "https://www.uniprot.org/uniprot/Q9UI32" } ], "pmid": "" }, { "name": "reactive oxygen species metabolic process", "id": "GO:0072593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072593", "evidence": [ { "database": "UniProtKB", "id": "Q9UI32", "url": "https://www.uniprot.org/uniprot/Q9UI32" } ], "pmid": "" }, { "name": "amino acid metabolic process", "id": "GO:0006520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006520", "evidence": [ { "database": "UniProtKB", "id": "Q9UI32", "url": "https://www.uniprot.org/uniprot/Q9UI32" } ], "pmid": "" }, { "name": "glutamate biosynthetic process", "id": "GO:0006537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006537", "evidence": [ { "database": "UniProtKB", "id": "Q9UI32", "url": "https://www.uniprot.org/uniprot/Q9UI32" } ], "pmid": "" }, { "name": "glutamine catabolic process", "id": "GO:0006543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006543", "evidence": [ { "database": "UniProtKB", "id": "Q9UI32", "url": "https://www.uniprot.org/uniprot/Q9UI32" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "glutaminase activity", "id": "GO:0004359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004359", "evidence": [ { "database": "UniProtKB", "id": "Q9UI32", "url": "https://www.uniprot.org/uniprot/Q9UI32" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9UI32", "url": "https://www.uniprot.org/uniprot/Q9UI32" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q9UI32", "url": "https://www.uniprot.org/uniprot/Q9UI32" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 308, "end_pos": 310, "annotation": "n_glycosylation_sequon" }, { "start_pos": 484, "end_pos": 486, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "15889", "name": "", "equation": "H2O + L-glutamine = L-glutamate + NH4(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P28492-1", "P13264-1", "O94925-1", "Q9UI32-1", "D3Z7P3-1", "Q571F8-1", "P33734-1", "Q03144-1", "P43544-1", "P53823-1", "Q54DN5-1", "Q54J48-1", "Q1RL13-1" ], "evidence": [ { "id": "15889", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/15889" } ] }, { "id": "R-HSA-5632924", "name": "TP53 stimulates GLS2 transcription", "equation": "", "summary": "TP53 (p53) directly stimulates transcription of mitochondrial glutaminase GLS2 under non-stress and stress conditions. Increased GLS2 levels lead to increased production of glutamate and alpha-ketoglutarate, increased mitochondrial respiration rate, and reduced ROS (reactive oxygen species) load through enhanced glutathione reduction (Hu et al. 2010).

Elevated GLS2 was associated with lower levels of intracellular ROS and a decrease in DNA oxidation. GLS2 knockdown resulted in higher ROS levels and was associated with stimulation of p53-induced cell death (Suzuki et al. 2010).", "cellular_location": "mitochondrial matrix, nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9UI32-1" ], "evidence": [ { "id": "R-HSA-5632924", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5632924" } ] }, { "id": "R-HSA-70609", "name": "glutamine + H2O => glutamate + NH4+ [GLS]", "equation": "", "summary": "Mitochondrial glutaminase (GLS) catalyzes the hydrolysis of glutamine to yield glutamate and ammonia. Two GLS enzymes have been identified, one abundantly expressed in the liver (GLS - Elgadi et al. 1999) and one abundantly expressed in kidney (GLS2 - Gomez-Fabre et al. 2000). Their biochemical properties are similar. The enzymes are inferred to function as dimers based on unpublished crystallographic data for GLS (PDB 3CZD) and studies of glutaminase enzyme purified from Ehrlich Ascites cells (Quesada et al. 1988).", "cellular_location": "mitochondrial matrix", "input_participant_list": [ "R-ALL-113522" ], "output_participant_list": [], "enzyme_list": [ "O94925-1", "Q9UI32-1" ], "evidence": [ { "id": "R-HSA-70609", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70609" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-113522", "participant_name": "L-Gln [mitochondrial matrix]", "crossref": [ { "id": "58359", "database": "ChEBI", "url": "" }, { "id": "000001532526", "database": "ZINC", "url": "" }, { "id": "C00064", "database": "COMPOUND", "url": "" }, { "id": "58359", "database": "ChEBI", "url": "" }, { "id": "C00064", "database": "COMPOUND", "url": "" }, { "id": "000001532526", "database": "ZINC", "url": "" }, { "id": "C00064", "database": "COMPOUND", "url": "" }, { "id": "58359", "database": "ChEBI", "url": "" }, { "id": "000001532526", "database": "ZINC", "url": "" }, { "id": "58359", "database": "ChEBI", "url": "" }, { "id": "000001532526", "database": "ZINC", "url": "" }, { "id": "C00064", "database": "COMPOUND", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "D3Z7P3", "gene_name": "Gls", "activity": [ { "ec_number": "3.5.1.2", "activity": "H2O + L-glutamine = L-glutamate + NH4(+).", "evidence": [ { "id": "D3Z7P3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3Z7P3" } ] }, { "ec_number": "3.5.1.2", "activity": "", "evidence": [ { "id": "D3Z7P3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3Z7P3" } ] } ] }, { "uniprot_ac": "O94925", "gene_name": "GLS", "activity": [ { "ec_number": "3.5.1.2", "activity": "H2O + L-glutamine = L-glutamate + NH4(+).", "evidence": [ { "id": "O94925", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94925" } ] }, { "ec_number": "3.5.1.2", "activity": "", "evidence": [ { "id": "O94925", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94925" } ] } ] }, { "uniprot_ac": "P13264", "gene_name": "Gls", "activity": [ { "ec_number": "3.5.1.2", "activity": "H2O + L-glutamine = L-glutamate + NH4(+).", "evidence": [ { "id": "P13264", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13264" } ] }, { "ec_number": "3.5.1.2", "activity": "", "evidence": [ { "id": "P13264", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13264" } ] } ] }, { "uniprot_ac": "P28492", "gene_name": "Gls2", "activity": [ { "ec_number": "3.5.1.2", "activity": "H2O + L-glutamine = L-glutamate + NH4(+).", "evidence": [ { "id": "P28492", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28492" } ] }, { "ec_number": "3.5.1.2", "activity": "", "evidence": [ { "id": "P28492", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28492" } ] } ] }, { "uniprot_ac": "P33734", "gene_name": "HIS7", "activity": [ { "ec_number": "3.5.1.2", "activity": "H2O + L-glutamine = L-glutamate + NH4(+).", "evidence": [ { "id": "P33734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P33734" } ] }, { "ec_number": "4.3.2.10", "activity": "5-[(5-phospho-1-deoxy-D-ribulos-1-ylimino)methylamino]-1-(5-phospho-beta-D-ribosyl)imidazole-4-carboxamide + L-glutamine = 5-amino-1-(5-phospho-beta-D-ribosyl)imidazole-4-carboxamide + D-erythro-1-(imidazol-4-yl)glycerol 3-phosphate + H(+) + L-glutamate.", "evidence": [ { "id": "P33734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P33734" } ] }, { "ec_number": "4.3.2.10", "activity": "", "evidence": [ { "id": "P33734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P33734" } ] } ] }, { "uniprot_ac": "P43544", "gene_name": "SNO3", "activity": [ { "ec_number": "3.5.1.2", "activity": "H2O + L-glutamine = L-glutamate + NH4(+).", "evidence": [ { "id": "P43544", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43544" } ] }, { "ec_number": "4.3.3.6", "activity": "aldehydo-D-ribose 5-phosphate + D-glyceraldehyde 3-phosphate + L-glutamine = H(+) + 3 H2O + L-glutamate + phosphate + pyridoxal 5'-phosphate.", "evidence": [ { "id": "P43544", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43544" } ] }, { "ec_number": "4.3.3.6", "activity": "", "evidence": [ { "id": "P43544", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43544" } ] } ] }, { "uniprot_ac": "P53823", "gene_name": "SNO2", "activity": [ { "ec_number": "3.5.1.2", "activity": "H2O + L-glutamine = L-glutamate + NH4(+).", "evidence": [ { "id": "P53823", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53823" } ] }, { "ec_number": "4.3.3.6", "activity": "aldehydo-D-ribose 5-phosphate + D-glyceraldehyde 3-phosphate + L-glutamine = H(+) + 3 H2O + L-glutamate + phosphate + pyridoxal 5'-phosphate.", "evidence": [ { "id": "P53823", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53823" } ] }, { "ec_number": "4.3.3.6", "activity": "", "evidence": [ { "id": "P53823", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53823" } ] } ] }, { "uniprot_ac": "Q03144", "gene_name": "SNO1", "activity": [ { "ec_number": "3.5.1.2", "activity": "H2O + L-glutamine = L-glutamate + NH4(+).", "evidence": [ { "id": "Q03144", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q03144" } ] }, { "ec_number": "4.3.3.6", "activity": "aldehydo-D-ribose 5-phosphate + D-glyceraldehyde 3-phosphate + L-glutamine = H(+) + 3 H2O + L-glutamate + phosphate + pyridoxal 5'-phosphate.", "evidence": [ { "id": "Q03144", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q03144" } ] }, { "ec_number": "4.3.3.6", "activity": "", "evidence": [ { "id": "Q03144", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q03144" } ] } ] }, { "uniprot_ac": "Q1RL13", "gene_name": "GLS", "activity": [ { "ec_number": "3.5.1.2", "activity": "H2O + L-glutamine = L-glutamate + NH4(+).", "evidence": [ { "id": "Q1RL13", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q1RL13" } ] }, { "ec_number": "3.5.1.2", "activity": "", "evidence": [ { "id": "Q1RL13", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q1RL13" } ] } ] }, { "uniprot_ac": "Q54DN5", "gene_name": "", "activity": [ { "ec_number": "3.5.1.2", "activity": "H2O + L-glutamine = L-glutamate + NH4(+).", "evidence": [ { "id": "Q54DN5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54DN5" } ] }, { "ec_number": "3.5.1.2", "activity": "", "evidence": [ { "id": "Q54DN5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54DN5" } ] } ] }, { "uniprot_ac": "Q54J48", "gene_name": "pdx2", "activity": [ { "ec_number": "3.5.1.2", "activity": "H2O + L-glutamine = L-glutamate + NH4(+).", "evidence": [ { "id": "Q54J48", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54J48" } ] }, { "ec_number": "4.3.3.6", "activity": "aldehydo-D-ribose 5-phosphate + D-glyceraldehyde 3-phosphate + L-glutamine = H(+) + 3 H2O + L-glutamate + phosphate + pyridoxal 5'-phosphate.", "evidence": [ { "id": "Q54J48", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54J48" } ] }, { "ec_number": "4.3.3.6", "activity": "", "evidence": [ { "id": "Q54J48", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54J48" } ] } ] }, { "uniprot_ac": "Q571F8", "gene_name": "Gls2", "activity": [ { "ec_number": "3.5.1.2", "activity": "H2O + L-glutamine = L-glutamate + NH4(+).", "evidence": [ { "id": "Q571F8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q571F8" } ] }, { "ec_number": "3.5.1.2", "activity": "", "evidence": [ { "id": "Q571F8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q571F8" } ] } ] }, { "uniprot_ac": "Q9UI32", "gene_name": "GLS2", "activity": [ { "ec_number": "3.5.1.2", "activity": "H2O + L-glutamine = L-glutamate + NH4(+).", "evidence": [ { "id": "Q9UI32", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UI32" } ] }, { "ec_number": "3.5.1.2", "activity": "", "evidence": [ { "id": "Q9UI32", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UI32" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 104 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }