{ "uniprot_canonical_ac": "P11245-1", "uniprot_ac": "P11245", "uniprot_id": "ARY2_HUMAN", "mass": { "chemical_mass": 33571.0, "monoisotopic_mass": 33571.0 }, "refseq": { "ac": "NP_000006", "name": "arylamine N-acetyltransferase 2", "summary": "This gene encodes an enzyme that functions to both activate and deactivate arylamine and hydrazine drugs and carcinogens. Polymorphisms in this gene are responsible for the N-acetylation polymorphism in which human populations segregate into rapid, intermediate, and slow acetylator phenotypes. Polymorphisms in this gene are also associated with higher incidences of cancer and drug toxicity. A second polymorphic arylamine N-acetyltransferase gene (NAT1), is located near this gene (NAT2). [provided by RefSeq, Sep 2019].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000006" }, "gene_names": [ { "name": "NAT2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P11245", "id": "P11245" }, { "name": "AAC2; NAT-2; PNAT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000006", "id": "NP_000006" }, { "name": "AAC2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P11245", "id": "P11245" }, { "name": "NAT2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000006", "id": "NP_000006" } ], "protein_names": [ { "name": "Arylamine N-acetyltransferase 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P11245" }, { "name": "2.3.1.5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11245" }, { "name": "Arylamide acetylase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11245" }, { "name": "N-acetyltransferase 2 (arylamine N-acetyltransferase); N-acetyltransferase type 2; arylamide acetylase 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000006", "id": "NP_000006" }, { "name": "N-acetyltransferase type 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11245" }, { "name": "NAT-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11245" }, { "name": "PNAT", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11245" }, { "name": "Polymorphic arylamine N-acetyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11245" }, { "name": "arylamine N-acetyltransferase 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000006", "id": "NP_000006" } ], "function": [ { "annotation": "A case-control study in NAT2 gene polymorphism studies in patients diagnosed with acute myeloid leukemia.", "evidence": [ { "database": "RefSeq", "id": "NP_000006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000006" }, { "database": "PubMed", "id": "37715989", "url": "https://glygen.org/publication/PubMed/37715989" } ] }, { "annotation": "Discovery of a novel genetic variant in the N-acetyltransferase2 (NAT2) gene that is associated with bladder cancer risk.", "evidence": [ { "database": "RefSeq", "id": "NP_000006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000006" }, { "database": "PubMed", "id": "37595067", "url": "https://glygen.org/publication/PubMed/37595067" } ] }, { "annotation": "Evaluating interactions of polygenic risk scores and NAT2 genotypes with tobacco smoking in bladder cancer risk.", "evidence": [ { "database": "RefSeq", "id": "NP_000006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000006" }, { "database": "PubMed", "id": "37728483", "url": "https://glygen.org/publication/PubMed/37728483" } ] }, { "annotation": "Participates in the detoxification of a plethora of hydrazine and arylamine drugs. Catalyzes the N- or O-acetylation of various arylamine and heterocyclic amine substrates and is able to bioactivate several known carcinogens.", "evidence": [ { "database": "UniProtKB", "id": "P11245", "url": "https://www.uniprot.org/uniprot/P11245#function" } ] }, { "annotation": "Relevance of NAT2 genotype and clinical factors to risk for antituberculosis drug-induced liver injury.", "evidence": [ { "database": "RefSeq", "id": "NP_000006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000006" }, { "database": "PubMed", "id": "38131213", "url": "https://glygen.org/publication/PubMed/38131213" } ] }, { "annotation": "This gene encodes an enzyme that functions to both activate and deactivate arylamine and hydrazine drugs and carcinogens. Polymorphisms in this gene are responsible for the N-acetylation polymorphism in which human populations segregate into rapid, intermediate, and slow acetylator phenotypes. Polymorphisms in this gene are also associated with higher incidences of cancer and drug toxicity. A second polymorphic arylamine N-acetyltransferase gene (NAT1), is located near this gene (NAT2). [provided by RefSeq, Sep 2019].", "evidence": [ { "database": "RefSeq", "id": "NP_000006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000006" } ] } ], "disease": [ { "disease_id": "MONDO:0009472", "recommended_name": { "id": "MONDO:0009472", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009472", "name": "acetylation, slow", "description": "" }, "synonyms": [ { "id": "MONDO:0009472", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009472", "name": "acetylation, slow", "description": "" }, { "id": "MONDO:0009472", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009472", "name": "Fast acetylator phenotype", "description": "" }, { "id": "MONDO:0009472", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009472", "name": "INH inactivation, Fast", "description": "" }, { "id": "MONDO:0009472", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009472", "name": "INH inactivation, slow", "description": "" }, { "id": "MONDO:0009472", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009472", "name": "Isoniazid inactivation, slow", "description": "" }, { "id": "MONDO:0009472", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009472", "name": "acetylation, Fast", "description": "" }, { "id": "MONDO:0009472", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009472", "name": "slow acetylator phenotype", "description": "" } ], "evidence": [ { "id": "243400", "database": "MIM", "url": "https://www.omim.org/entry/243400" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "58.4", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156006", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156006" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000156006", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156006" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "27.66", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000156006", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156006" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156006", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156006" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "49.45", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156006", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156006" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "86.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000156006", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156006" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "64.68", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156006", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156006" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "35.07", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000156006", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156006" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "37.56", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000156006", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156006" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156006", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156006" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "93.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000156006", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156006" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "53.89", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156006", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156006" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "43.4", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000156006", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156006" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P11245", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11245" } ], "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": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P11245", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11245" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { 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] }, { "title": "Relevance of NAT2 genotype and clinical factors to risk for antituberculosis drug-induced liver injury.", "journal": "Pharmacogenomics", "date": "2024-01", "authors": "Cheng Fang, Qiu Chao-Chao, Jiang Xian-Gao, Wu Te, Zhang Qiang, Chen Xin, Zheng Shi-Lin, Liu Sai-Duo, Ye Xin-Chun, Shi Ji-Chan", "evidence": [ { "database": "RefSeq", "id": "NP_000006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000006" } ], "reference": [ { "type": "PubMed", "id": "38131213", "url": "https://glygen.org/publication/PubMed/38131213" } ] }, { "title": "Acetaminophen and phenol: substrates for both a thermostable and a thermolabile form of human platelet phenol sulfotransferase.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "1982", "authors": "Reiter C, Weinshilboum RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9753281", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9753281" } ], "reference": [ { "type": "PubMed", "id": "6950087", "url": "https://glygen.org/publication/PubMed/6950087" } ] }, { "title": "Treatment of paracetamol (acetaminophen) poisoning with N-acetylcysteine.", "journal": "Lancet (London, England)", "date": "1977", "authors": "Prescott LF, Park J, Ballantyne A, Adriaenssens P, Proudfoot AT", "evidence": [ { "database": "Reactome", "id": "R-HSA-9753281", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9753281" } ], "reference": [ { "type": "PubMed", "id": "70646", "url": "https://glygen.org/publication/PubMed/70646" } ] }, { "title": "Treatment of severe acetaminophen poisoning with intravenous acetylcysteine.", "journal": "Archives of internal medicine", "date": "1981", "authors": "Prescott LF", "evidence": [ { "database": "Reactome", "id": "R-HSA-9753281", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9753281" } ], "reference": [ { "type": "PubMed", "id": "7469630", "url": "https://glygen.org/publication/PubMed/7469630" } ] }, { "title": "Cloning, expression, and functional characterization of two mutant (NAT2(191) and NAT2(341/803)) and wild-type human polymorphic N-acetyltransferase (NAT2) alleles.", "journal": "Drug metabolism and disposition: the biological fate of chemicals", "date": "1994", "authors": "Ferguson RJ, Doll MA, Rustan TD, Gray K, Hein DW", "evidence": [ { "database": "UniProtKB", "id": "P11245", "url": "https://www.uniprot.org/uniprot/P11245" } ], "reference": [ { "type": "PubMed", "id": "7915226", "url": "https://glygen.org/publication/PubMed/7915226" } ] }, { "title": "Ethnic distribution of slow acetylator mutations in the polymorphic N-acetyltransferase (NAT2) gene.", "journal": "Pharmacogenetics", "date": "1994", "authors": "Lin HJ, Han CY, Lin BK, Hardy S", "evidence": [ { "database": "UniProtKB", "id": "P11245", "url": "https://www.uniprot.org/uniprot/P11245" } ], "reference": [ { "type": "PubMed", "id": "7920692", "url": "https://glygen.org/publication/PubMed/7920692" } ] }, { "title": "N-acetyltransferases, O-acetyltransferases, and N,O-acetyltransferases: enzymology and bioactivation.", "journal": "Advances in pharmacology (San Diego, Calif.)", "date": "1994", "authors": "Hanna PE", "evidence": [ { "database": "Reactome", "id": "R-HSA-156582", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-156582" } ], "reference": [ { "type": "PubMed", "id": "8068562", "url": "https://glygen.org/publication/PubMed/8068562" } ] }, { "title": "Metabolic activation and deactivation of arylamine carcinogens by recombinant human NAT1 and polymorphic NAT2 acetyltransferases.", "journal": "Carcinogenesis", "date": "1993", "authors": "Hein DW, Doll MA, Rustan TD, Gray K, Feng Y, Ferguson RJ, Grant DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-156582", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-156582" } ], "reference": [ { "type": "PubMed", "id": "8353847", "url": "https://glygen.org/publication/PubMed/8353847" } ] }, { "title": "The structure and characteristics of a fourth allele of polymorphic N-acetyltransferase gene found in the Japanese population.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1993", "authors": "Abe M, Deguchi T, Suzuki T", "evidence": [ { "database": "UniProtKB", "id": "P11245", "url": "https://www.uniprot.org/uniprot/P11245" } ], "reference": [ { "type": "PubMed", "id": "8466518", "url": "https://glygen.org/publication/PubMed/8466518" } ] }, { "title": "Immunohistochemical detection of gamma-glutamyl transpeptidase in normal human tissue.", "journal": "The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society", "date": "1996", "authors": "Hanigan MH, Frierson HF Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-9753281", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9753281" } ], "reference": [ { "type": "PubMed", "id": "8813074", "url": "https://glygen.org/publication/PubMed/8813074" } ] }, { "title": "Influence of polymorphic N-acetyltransferase phenotype on the inhibition and induction of acetaminophen bioactivation with long-term isoniazid.", "journal": "Clinical pharmacology and therapeutics", "date": "1997", "authors": "Chien JY, Peter RM, Nolan CM, Wartell C, Slattery JT, Nelson SD, Carithers RL Jr, Thummel KE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9753281", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9753281" } ], "reference": [ { "type": "PubMed", "id": "9024171", "url": "https://glygen.org/publication/PubMed/9024171" } ] }, { "title": "Hydrolysis and transfer reactions catalyzed by gamma-glutamyl transpeptidase; evidence for separate substrate sites and for high affinity of L-cystine.", "journal": "Biochemical and biophysical research communications", "date": "1976", "authors": "Thompson GA, Meister A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9753281", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9753281" } ], "reference": [ { "type": "PubMed", "id": "9080", "url": "https://glygen.org/publication/PubMed/9080" } ] } ], "pathway": [ { "id": "hsa:10", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10", "resource": "KEGG Pathway" }, { "id": "R-HSA-156582", "name": "Acetylation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-156582", "resource": "Reactome", "description": "Acetylation" }, { "id": "R-HSA-9753281", "name": "Paracetamol ADME", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9753281", "resource": "Reactome", "description": "Paracetamol ADME" } ], "orthologs": [ { "uniprot_canonical_ac": "P18440-1", "protein_name": "Arylamine N-acetyltransferase 1", "gene_name": "NAT1", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MDIEAYLERIGYKKSRNKLDLETLTDILQHQIRAVPFENLNIHCGDAMDLGLEAIFDQVVRRNRGGWCLQVNHLLYWALTTIGFETTMLGGYVYSTPAKKYSTGMIHLLLQVTIDGRNYIVDAGFGRSYQMWQPLELISGKDQPQVPCVFRLTEENGFWYLDQIRREQYIPNEEFLHSDLLEDSKYRKIYSFTLKPRTIEDFESMNTYLQTSPSSVFTSKSFCSLQTPDGVHCLVGFTLTHRRFNYKDNTDLIEFKTLSEEEIEKVLKNIFNISLQRKLVPKHGDRFFTI", "length": 290 }, "evidence": [ { "id": "45925511", "url": 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N-acetyltransferase 2", "gene_name": "Nat2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MDIEAYFERIGYQSTRSKLDLKTLTEILQHQIRAIPFENLNIHCGESMELSLEAIFDQIVRKKRGGWCLQVNHLLYWALTKLGFETTMLGGYVFNTPANKYSSGMIHLLVQVTISGKDYIVDAGFGRSYQMWEPLELTSGKDQPQVPAIFRLTEENGTWYLDQIRREQYVPNQEFINSDLLEKNKYRKIYSFTLEPRTIEDFESMNTYLQTSPASVFTSKSFCSLQTPEGVHCLVGSTLTYRRFSYKDNVDLVEFKSLTEEEIEDVLRTIFGVSLERKLVPKHGDRFFTI", "length": 290 }, "evidence": [ { "id": "45925511", "url": "http://www.informatics.jax.org/homology/45925511", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P50296-1", "protein_name": "Arylamine N-acetyltransferase 3", "gene_name": "Nat3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006805", "evidence": [ { "database": "UniProtKB", "id": "P11245", "url": "https://www.uniprot.org/uniprot/P11245" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "16613", "name": "", "equation": "acetyl-CoA + an arylamine = an N-acetylarylamine + CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P50297-1", "P50298-1", "P18440-1", "P11245-1", "P50296-1", "P50294-1", "P50295-1", "Q54IU7-1", "Q54IU8-1", "Q54IU9-1" ], "evidence": [ { "id": "16613", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/16613" } ] }, { "id": "R-HSA-158832", "name": "The acetyl group from acetyl-CoA is transferred to the NAT2", "equation": "", "summary": "N-acetylation occurs in two sequential steps via a ping-pong Bi-Bi mechanism. In the first step, the acetyl group from acetyl-CoA is transferred to a conserved cysteine residue (position 68) in the active site of NAT, with consequent release of coenzyme-A. In the second step, the acetyl group is transferred to the acceptor substrate and the enzyme returns to its initial state.", "cellular_location": "cytosol", "input_participant_list": [ "R-HSA-158692" ], "output_participant_list": [ "R-HSA-158833" ], "enzyme_list": [ "P11245-1" ], "evidence": [ { "id": "R-HSA-158832", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-158832" } ] }, { "id": "R-HSA-174967", "name": "NAT2 acetylation", "equation": "", "summary": "Typical NAT 2 substrates were chosen as examples. They are paraxanthine, isoniazid and N-hydroxy 4-aminobiphenyl.", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11245-1" ], "evidence": [ { "id": "R-HSA-174967", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174967" } ] }, { "id": "R-HSA-9753676", "name": "NAT1,2 acetylate APAP-Cys to APAP-Mer", "equation": "", "summary": "Human arylamine N-acetyltransferases (NATs) are expressed as two polymorphic isoforms, NAT1 and NAT2, which have toxicologically significant functions in the detoxification of xenobiotic arylamines by N-acetylation (Liu et al. 2009, Klaassen 2013). NAT1 is located in virtually every tissue whereas NAT2 is mainly expressed in the liver and gut. Slow acetylators of polymorphic NAT2 may suffer more often from side-effects of NAT substrates than fast acetylators due to its inhibition by many drugs (Chien et al. 1997).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [ "R-ALL-9753642" ], "enzyme_list": [ "P11245-1", "P18440-1" ], "evidence": [ { "id": "R-HSA-9753676", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9753676" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-9753642", "participant_name": "APAP-Mer [cytosol]", "crossref": [ { "id": "133438", "database": "ChEBI", "url": "" }, { "id": "000002528460", "database": "ZINC", "url": "" }, { "id": "000002528460", "database": "ZINC", "url": "" }, { "id": "133438", "database": "ChEBI", "url": "" }, { "id": "133438", "database": "ChEBI", "url": "" }, { "id": "000002528460", "database": "ZINC", "url": "" }, { "id": "133438", "database": "ChEBI", "url": "" }, { "id": "000002528460", "database": "ZINC", "url": "" } ] }, { "participant_id": "R-HSA-158692", "participant_name": "NAT2 [cytosol]", "crossref": [ { "id": "P11245", "database": "UniProt", "url": "" }, { "id": "19454", "database": "Orphanet", "url": "" }, { "id": "P11245", "database": "GeneCards", "url": "" }, { "id": "NP_000006.2", "database": "RefSeq", "url": "" }, { "id": "HMDBP00021", "database": "HMDB Protein", "url": "" }, { "id": "P11245", "database": "PRO", "url": "" }, { "id": "ENSG00000156006", "database": "OpenTargets", "url": "" }, { "id": "2PFR", "database": "PDB", "url": "" }, { "id": "ENSG00000156006-NAT2", "database": "HPA", "url": "" }, { "id": "ENSP00000286479", "database": "Ensembl", "url": "" }, { "id": "ENSG00000156006", "database": "Ensembl", "url": "" }, { "id": "ENST00000286479", "database": "Ensembl", "url": "" }, { "id": "XP_016868427.1", "database": "RefSeq", "url": "" }, { "id": "P11245", "database": "Pharos - Targets", "url": "" } ] }, { "participant_id": "R-HSA-158833", "participant_name": 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