{ "uniprot_canonical_ac": "O00142-1", "uniprot_ac": "O00142", "uniprot_id": "KITM_HUMAN", "mass": { "chemical_mass": 31005.0, "monoisotopic_mass": 31005.0 }, "refseq": { "ac": "NP_001166114", "name": "thymidine kinase 2 isoform 2", "summary": "This gene encodes a deoxyribonucleoside kinase that specifically phosphorylates thymidine, deoxycytidine, and deoxyuridine. The encoded enzyme localizes to the mitochondria and is required for mitochondrial DNA synthesis. Mutations in this gene are associated with a myopathic form of mitochondrial DNA depletion syndrome. Alternate splicing results in multiple transcript variants encoding distinct isoforms, some of which lack transit peptide, so are not localized to mitochondria. [provided by RefSeq, Dec 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166114" }, "gene_names": [ { "name": "TK2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00142", "id": "O00142" }, { "name": "MTDPS2; MTTK; PEOB3; SCA31; TK2-EXT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166114", "id": "NP_001166114" }, { "name": "TK2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166114", "id": "NP_001166114" } ], "protein_names": [ { "name": "Thymidine kinase 2, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00142" }, { "name": "2'-deoxyuridine kinase TK2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00142" }, { "name": "2.7.1.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00142" }, { "name": "2.7.1.21", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00142" }, { "name": "2.7.1.74", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00142" }, { "name": "Deoxycytidine kinase TK2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00142" }, { "name": "Mt-TK", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00142" }, { "name": "mt-TK; thymidine kinase 2, mitochondrial; deoxycytidine kinase TK2; 2'-deoxyuridine kinase TK2; mitochondrial thymidine kinase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166114", "id": "NP_001166114" }, { "name": "thymidine kinase 2 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166114", "id": "NP_001166114" } ], "function": [ { "annotation": "In TK2 deficiency, age at onset, rate of weakness progression and POS are important variables that define three clinical subtypes. Nervous system involvement often complicates the clinical course of the infantile-onset form while extraocular muscle and facial involvement are characteristic of the late-onset form.", "evidence": [ { "database": "RefSeq", "id": "NP_001166114", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166114" }, { "database": "PubMed", "id": "29602790", "url": "https://glygen.org/publication/PubMed/29602790" } ] }, { "annotation": "Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study.", "evidence": [ { "database": "RefSeq", "id": "NP_001166114", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166114" }, { "database": "PubMed", "id": "35907766", "url": "https://glygen.org/publication/PubMed/35907766" } ] }, { "annotation": "Mutational analyses of human thymidine kinase 2 reveal key residues in ATP-Mg(2+) binding and catalysis.", "evidence": [ { "database": "RefSeq", "id": "NP_001166114", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166114" }, { "database": "PubMed", "id": "34758700", "url": "https://glygen.org/publication/PubMed/34758700" } ] }, { "annotation": "Phosphorylates thymidine, deoxycytidine, and deoxyuridine in the mitochondrial matrix (PubMed:9989599, PubMed:11687801). In non-replicating cells, where cytosolic dNTP synthesis is down-regulated, mtDNA synthesis depends solely on TK2 and DGUOK (PubMed:9989599). Widely used as target of antiviral and chemotherapeutic agents (PubMed:9989599).", "evidence": [ { "database": "UniProtKB", "id": "O00142", "url": "https://www.uniprot.org/uniprot/O00142#function" }, { "database": "PubMed", "id": "11687801", "url": "https://glygen.org/publication/PubMed/11687801" }, { "database": "PubMed", "id": "9989599", "url": "https://glygen.org/publication/PubMed/9989599" } ] }, { "annotation": "This gene encodes a deoxyribonucleoside kinase that specifically phosphorylates thymidine, deoxycytidine, and deoxyuridine. The encoded enzyme localizes to the mitochondria and is required for mitochondrial DNA synthesis. Mutations in this gene are associated with a myopathic form of mitochondrial DNA depletion syndrome. Alternate splicing results in multiple transcript variants encoding distinct isoforms, some of which lack transit peptide, so are not localized to mitochondria. [provided by RefSeq, Dec 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_001166114", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166114" } ] }, { "annotation": "Thymidine Kinase 2 and Mitochondrial Protein COX I in the Cerebellum of Patients with Spinocerebellar Ataxia Type 31 Caused by Penta-nucleotide Repeats (TTCCA)n.", "evidence": [ { "database": "RefSeq", "id": "NP_001166114", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166114" }, { "database": "PubMed", "id": "35084690", "url": "https://glygen.org/publication/PubMed/35084690" } ] }, { "annotation": "Thymidine Kinase 2 mutation is associated with myopathic form of mitochondrial DNA maintenance defect.", "evidence": [ { "database": "RefSeq", "id": "NP_001166114", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166114" }, { "database": "PubMed", "id": "29735374", "url": "https://glygen.org/publication/PubMed/29735374" } ] } ], "disease": [ { "disease_id": "DOID:0080120", "recommended_name": { "id": "DOID:0080120", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080120", "name": "mitochondrial DNA depletion syndrome 2", "description": "A mitochondrial DNA depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene on chromosome 16q21." }, "synonyms": [ { "id": "DOID:0080120", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080120", "name": "TK2-related mitochondrial DNA depletion syndrome, myopathic form", "description": "" }, { "id": "MONDO:0012301", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012301", "name": "mitochondrial DNA depletion syndrome, myopathic form", "description": "Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive." }, { "id": "MONDO:0012301", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012301", "name": "mitochondrial DNA depletion syndrome type 2", "description": "" }, { "id": "MONDO:0012301", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012301", "name": "mtDNA depletion syndrome, myopathic form", "description": "" }, { "id": "MONDO:0012301", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012301", "name": "MTDPS2", "description": "" }, { "id": "MONDO:0012301", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012301", "name": "mitochondrial DNA depletion myopathy, Tk2-related", "description": "" }, { "id": "MONDO:0012301", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012301", "name": "mitochondrial DNA depletion syndrome 2", "description": "" }, { "id": "MONDO:0012301", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012301", "name": "mitochondrial DNA depletion syndrome 2 (myopathic type)", "description": "" }, { "id": "MIM:609560", "resource": "MIM", "url": "https://www.omim.org/entry/609560", "name": "Mitochondrial DNA depletion syndrome 2", "description": "Mitochondrial DNA depletion syndrome 2" } ], "evidence": [ { "id": "609560", "database": "MIM", "url": "https://www.omim.org/entry/609560" } ] }, { "disease_id": "DOID:0111523", "recommended_name": { "id": "DOID:0111523", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111523", "name": "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3", "description": "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TK2 on chromosome 16q21." }, "synonyms": [ { "id": "DOID:0111523", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111523", "name": "autosomal recessive progressive external ophthalmoplegia 3", "description": "" }, { "id": "DOID:0111523", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111523", "name": "PEOB3", "description": "" }, { "id": "MONDO:0014898", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014898", "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3", "description": "Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene." }, { "id": "MONDO:0014898", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014898", "name": "PEOB3", "description": "" }, { "id": "MONDO:0014898", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014898", "name": "TK2 autosomal recessive progressive external ophthalmoplegia", "description": "" }, { "id": "MONDO:0014898", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014898", "name": "autosomal recessive progressive external ophthalmoplegia caused by mutation in TK2", "description": "" }, { "id": "MONDO:0014898", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014898", "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3", "description": "" }, { "id": "MONDO:0014898", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014898", "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3; PEOB3", "description": "" }, { "id": "MONDO:0014898", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014898", "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 3", "description": "" }, { "id": "MONDO:0014898", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014898", "name": "progressive external ophthalmoplegia, autosomal recessive 3", "description": "" }, { "id": "MIM:617069", "resource": "MIM", "url": "https://www.omim.org/entry/617069", "name": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3", "description": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3" } ], "evidence": [ { "id": "617069", "database": "MIM", "url": "https://www.omim.org/entry/617069" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "84.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166548" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "71.66", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166548" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "85.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166548" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "77.89", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166548" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "91.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166548" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "86.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166548" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "80.18", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166548" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "83.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166548" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "87.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166548" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "77.39", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166548" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "90.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166548" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "88.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166548" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "87.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166548" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00142", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00142" } ], "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": 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", 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"https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00142", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00142" } ], "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 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00142" } ], "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": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O00142", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00142" } ], "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": "O00142", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00142" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O00142", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00142" } ], "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": "O00142", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00142" } ], "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": "O00142", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00142" } ], "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": "O00142", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00142" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"http://pfam.xfam.org/family/PF01712", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O00142", "url": "https://pharos.nih.gov/targets/O00142", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O00142", "url": "http://purl.obolibrary.org/obo/PR_O00142", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-73614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73614", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001166114", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166114", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "19129", "url": "https://www.rhea-db.org/rhea/19129", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "28206", "url": "https://www.rhea-db.org/rhea/28206", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "46040", "url": "https://www.rhea-db.org/rhea/46040", "database": "Rhea", "categories": [ 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"https://www.uniprot.org/uniprot/A0A7I2V3A3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V3V1", "url": "https://www.uniprot.org/uniprot/A0A7I2V3V1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V3V1-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V3V1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V406", "url": "https://www.uniprot.org/uniprot/A0A7I2V406", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V406-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V406-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V408", "url": "https://www.uniprot.org/uniprot/A0A7I2V408", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V408-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V408-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V465", "url": "https://www.uniprot.org/uniprot/A0A7I2V465", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V465-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V465-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V471", "url": "https://www.uniprot.org/uniprot/A0A7I2V471", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V471-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V471-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V4A1", "url": "https://www.uniprot.org/uniprot/A0A7I2V4A1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V4A1-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V4A1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V557", "url": "https://www.uniprot.org/uniprot/A0A7I2V557", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V557-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V557-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V5P3", "url": "https://www.uniprot.org/uniprot/A0A7I2V5P3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V5P3-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V5P3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V5S4", "url": "https://www.uniprot.org/uniprot/A0A7I2V5S4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V5S4-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V5S4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2YQY6", "url": "https://www.uniprot.org/uniprot/A0A7I2YQY6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2YQY6-1", "url": "https://www.uniprot.org/uniprot/A0A7I2YQY6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0MLU2", "url": "https://www.uniprot.org/uniprot/A0A7P0MLU2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0MLU2-1", "url": "https://www.uniprot.org/uniprot/A0A7P0MLU2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0PE46", "url": "https://www.uniprot.org/uniprot/A0A7P0PE46", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0PE46-1", "url": "https://www.uniprot.org/uniprot/A0A7P0PE46-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0SB82", "url": "https://www.uniprot.org/uniprot/A0A7P0SB82", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0SB82-1", "url": "https://www.uniprot.org/uniprot/A0A7P0SB82-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BP77", "url": "https://www.uniprot.org/uniprot/H3BP77", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BP77-1", "url": "https://www.uniprot.org/uniprot/H3BP77-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BV57", "url": "https://www.uniprot.org/uniprot/H3BV57", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BV57-1", "url": "https://www.uniprot.org/uniprot/H3BV57-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KS73", "url": "https://www.uniprot.org/uniprot/J3KS73", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KS73-1", "url": "https://www.uniprot.org/uniprot/J3KS73-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KSZ2", "url": "https://www.uniprot.org/uniprot/J3KSZ2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KSZ2-1", "url": "https://www.uniprot.org/uniprot/J3KSZ2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QL12", "url": "https://www.uniprot.org/uniprot/J3QL12", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QL12-1", "url": "https://www.uniprot.org/uniprot/J3QL12-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QRP0", "url": "https://www.uniprot.org/uniprot/J3QRP0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QRP0-1", "url": "https://www.uniprot.org/uniprot/J3QRP0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00142", "url": "https://www.uniprot.org/uniprot/O00142", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00142-1", "url": "https://www.uniprot.org/uniprot/O00142-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00142-2", "url": "https://www.uniprot.org/uniprot/O00142-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00142-3", "url": "https://www.uniprot.org/uniprot/O00142-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00142-4", "url": "https://www.uniprot.org/uniprot/O00142-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00142-5", "url": "https://www.uniprot.org/uniprot/O00142-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00142-6", "url": "https://www.uniprot.org/uniprot/O00142-6", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLLWPLRGWAARALRCFGPGSRGSPASGPGPRRVQRRAWPPDKEQEKEKKSVICVEGNIASGKTTCLEFFSNATDVEVLTEPVSKWRNVRGHNPLGLMYHDASRWGLTLQTYVQLTMLDRHTRPQVSSVRLMERSIHSARYIFVENLYRSGKMPEVDYVVLSEWFDWILRNMDVSVDLIVYLRTNPETCYQRLKKRCREEEKVIPLEYLEAIHHLHEEWLIKGSLFPMAAPVLVIEADHHMERMLELFEQNRDRILTPENRKHCP", "length": 265, "header": "sp|O00142-1|KITM_HUMAN Isoform 1 of Thymidine kinase 2, mitochondrial OS=Homo sapiens OX=9606 GN=TK2 PE=1 SV=4 CANONICAL=O00142-1" }, "isoforms": [ { "isoform_ac": "A0A0A0MSY7-1", "url": "", "sequence": { "sequence": "MRPGLFKGQAPGSRRRPTAGLAVVRADSHKKEPRASGSARPAMLLWPLRGWAARALRCFGPGSRGSPASGPGPRRVQRRAWPPDKEQEKEKKSVICVEGNIASGKTTCLEFFSNATDVEGLMYHDASRWGLTLQTYVQLTMLDRHTRPQVSSVRLMERSIHSARYIFVENLYRSGKMPEVDYVVLSEWFDWILRNMDVSVDLIVYLRTNPETCYQRLKKRCREEEKVIPLEYLEAIHHLHEEWLIKGSLFPMAAPVLVIEADHHMERMLELFEQNRDRILTPENRKHCP", "length": 289, "header": "tr|A0A0A0MSY7-1|A0A0A0MSY7_HUMAN Computationally mapped isoform of Thymidine kinase 2, mitochondrial OS=Homo sapiens OX=9606 GN=TK2 PE=1 SV=1 CANONICAL=O00142-1" }, "locus": { "chromosome": "16", "start_pos": 66550061, "end_pos": 66511971, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000417693", "url": "https://www.ensembl.org/id/ENST00000417693" }, { "database": "Ensembl Peptide", "id": "ENSP00000407469", "url": "https://www.ensembl.org/id/ENSP00000407469" } ] } }, { "isoform_ac": "A0A7I2V2L8-1", "url": "", "sequence": { "sequence": "XKEQEKEKKSVVWLCCPGWRTVAQSQLTAALTSWSQVILPHQPPK", "length": 45, "header": "tr|A0A7I2V2L8-1|KITM_HUMAN Computationally mapped isoform of Thymidine kinase 2, mitochondrial OS=Homo sapiens OX=9606 GN=TK2 PE=1 SV=1 CANONICAL=O00142-1" }, "locus": { "chromosome": "16", "start_pos": 66549009, "end_pos": 66546119, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677541.1", "url": "https://www.ensembl.org/id/ENST00000677541.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502980.1", "url": "https://www.ensembl.org/id/ENSP00000502980.1" } ] } }, { "isoform_ac": "A0A7I2V304-1", "url": "", "sequence": { "sequence": "VLTEPVSKWRNVRGHNPLMESQSVPRLECSGAISAHCNLCLPGSSDSPASLS", "length": 52, "header": "tr|A0A7I2V304-1|KITM_HUMAN Computationally mapped isoform of Thymidine kinase 2, mitochondrial OS=Homo sapiens OX=9606 GN=TK2 PE=1 SV=1 CANONICAL=O00142-1" }, "locus": { "chromosome": "16", "start_pos": 66537017, "end_pos": 66536098, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678746.1", "url": "https://www.ensembl.org/id/ENST00000678746.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503227.1", "url": "https://www.ensembl.org/id/ENSP00000503227.1" } ] } }, { "isoform_ac": "A0A7I2V3A3-1", "url": "", "sequence": { "sequence": "XKEQEKEKKSVTRSGSVVQAGGQWHNHNLLQP", "length": 32, "header": "tr|A0A7I2V3A3-1|KITM_HUMAN Computationally mapped isoform of Thymidine kinase 2, mitochondrial OS=Homo sapiens OX=9606 GN=TK2 PE=1 SV=1 CANONICAL=O00142-1" }, "locus": { "chromosome": "16", "start_pos": 66549009, "end_pos": 66546163, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676536.1", "url": "https://www.ensembl.org/id/ENST00000676536.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503318.1", "url": "https://www.ensembl.org/id/ENSP00000503318.1" } ] } }, { "isoform_ac": "A0A7I2V3V1-1", "url": "", "sequence": { "sequence": "GLMYHDASRWGLTLQTYVQLTMLDRHTRPQWEDARSGLCSSVGMV", "length": 45, "header": "tr|A0A7I2V3V1-1|KITM_HUMAN Computationally mapped isoform of Thymidine kinase 2, mitochondrial OS=Homo sapiens OX=9606 GN=TK2 PE=1 SV=1 CANONICAL=O00142-1" }, "locus": { "chromosome": "16", "start_pos": 66531469, "end_pos": 66517833, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677379.1", "url": "https://www.ensembl.org/id/ENST00000677379.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503672.1", "url": "https://www.ensembl.org/id/ENSP00000503672.1" } ] } }, { "isoform_ac": "A0A7I2V406-1", "url": "", "sequence": { "sequence": "XKEQEKEKKSVVWLCCPGWRTVAQSQLTAALTSWSQICVEGNIASGKTTCLEFFSNATDVE", "length": 61, "header": "tr|A0A7I2V406-1|KITM_HUMAN Computationally mapped isoform of Thymidine kinase 2, mitochondrial OS=Homo sapiens OX=9606 GN=TK2 PE=1 SV=1 CANONICAL=O00142-1" }, "locus": { "chromosome": "16", "start_pos": 66549009, "end_pos": 66541879, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677412.1", "url": "https://www.ensembl.org/id/ENST00000677412.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503491.1", "url": "https://www.ensembl.org/id/ENSP00000503491.1" } ] } }, { "isoform_ac": "A0A7I2V408-1", "url": "", "sequence": { "sequence": "XKEQEKEKKSVSLHR", "length": 15, "header": "tr|A0A7I2V408-1|A0A7I2V408_HUMAN Computationally mapped isoform of Thymidine kinase 2 OS=Homo sapiens OX=9606 GN=TK2 PE=4 SV=1 CANONICAL=O00142-1" }, "locus": { "chromosome": "16", "start_pos": 66549009, "end_pos": 66548772, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678205.1", "url": "https://www.ensembl.org/id/ENST00000678205.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503758.1", "url": "https://www.ensembl.org/id/ENSP00000503758.1" } ] } }, { "isoform_ac": "A0A7I2V465-1", "url": "", "sequence": { "sequence": "VIEADHHMERMLELFEQNRDRILTPENRKHCP", "length": 32, "header": "tr|A0A7I2V465-1|KITM_HUMAN Computationally mapped isoform of Thymidine kinase 2, mitochondrial OS=Homo sapiens OX=9606 GN=TK2 PE=1 SV=1 CANONICAL=O00142-1" }, "locus": { "chromosome": "16", "start_pos": 66512066, "end_pos": 66511971, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677319.1", "url": "https://www.ensembl.org/id/ENST00000677319.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503900.1", "url": "https://www.ensembl.org/id/ENSP00000503900.1" } ] } }, { "isoform_ac": "A0A7I2V471-1", "url": "", "sequence": { "sequence": "EYLEAIHHLHEEWLIKGSLFPMAAPVLVIRRNVIVWSGLSHSDALRNAEVIEADHHMERMLELFEQNRDRILTPENRKHCP", "length": 81, "header": "tr|A0A7I2V471-1|KITM_HUMAN Computationally mapped isoform of Thymidine kinase 2, mitochondrial OS=Homo sapiens OX=9606 GN=TK2 PE=1 SV=1 CANONICAL=O00142-1" }, "locus": { "chromosome": "16", "start_pos": 66513811, "end_pos": 66511971, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678190.1", "url": "https://www.ensembl.org/id/ENST00000678190.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503824.1", "url": "https://www.ensembl.org/id/ENSP00000503824.1" } ] } }, { "isoform_ac": "A0A7I2V4A1-1", "url": "", "sequence": { "sequence": "XKEQEKEKKSVGLMYHDASRWGLTLQTYVQLTMLDRHTRPQ", "length": 41, "header": "tr|A0A7I2V4A1-1|A0A7I2V4A1_HUMAN Computationally mapped isoform of Thymidine kinase 2 OS=Homo sapiens OX=9606 GN=TK2 PE=4 SV=1 CANONICAL=O00142-1" }, "locus": { "chromosome": "16", "start_pos": 66549009, "end_pos": 66531380, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000679154.1", "url": "https://www.ensembl.org/id/ENST00000679154.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503924.1", "url": "https://www.ensembl.org/id/ENSP00000503924.1" } ] } }, { "isoform_ac": "A0A7I2V557-1", "url": "", "sequence": { "sequence": "XKEQEKEKKSVWEDARSGLCSSVGMV", "length": 26, "header": "tr|A0A7I2V557-1|KITM_HUMAN Computationally mapped isoform of Thymidine kinase 2, mitochondrial OS=Homo sapiens OX=9606 GN=TK2 PE=1 SV=1 CANONICAL=O00142-1" }, "locus": { "chromosome": "16", "start_pos": 66549009, "end_pos": 66517832, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676538.1", "url": "https://www.ensembl.org/id/ENST00000676538.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504099.1", "url": "https://www.ensembl.org/id/ENSP00000504099.1" } ] } }, { "isoform_ac": "A0A7I2V5P3-1", "url": "", "sequence": { "sequence": "VLTEPVSKWRNVRGHNPLVSSVRLMERSIHSARYIFVENLYR", "length": 42, "header": "tr|A0A7I2V5P3-1|KITM_HUMAN Computationally mapped isoform of Thymidine kinase 2, mitochondrial OS=Homo sapiens OX=9606 GN=TK2 PE=1 SV=1 CANONICAL=O00142-1" }, "locus": { "chromosome": "16", "start_pos": 66537017, "end_pos": 66528996, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677739.1", "url": "https://www.ensembl.org/id/ENST00000677739.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504644.1", "url": "https://www.ensembl.org/id/ENSP00000504644.1" } ] } }, { "isoform_ac": "A0A7I2V5S4-1", "url": "", "sequence": { "sequence": "MYHDASRWGLTLQTYVQLTMLDRHTRPQVSSVRLMERSIHSARYIFVENLYRSGKMPEVDYVVLSEWFDWILRNMDVSVDLIVYLRTNPETCYQRLKKR", "length": 99, "header": "tr|A0A7I2V5S4-1|KITM_HUMAN Computationally mapped isoform of Thymidine kinase 2, mitochondrial OS=Homo sapiens OX=9606 GN=TK2 PE=1 SV=1 CANONICAL=O00142-1" }, "locus": { "chromosome": "16", "start_pos": 66531463, "end_pos": 66517166, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678314.1", "url": "https://www.ensembl.org/id/ENST00000678314.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504438.1", "url": "https://www.ensembl.org/id/ENSP00000504438.1" } ] } }, { "isoform_ac": "A0A7I2YQY6-1", "url": "", "sequence": { "sequence": "XGKMPEVDYVVLSEWFDWILRNMDVSVDLIGIPGSNSPSP", "length": 40, "header": "tr|A0A7I2YQY6-1|KITM_HUMAN Computationally mapped isoform of Thymidine kinase 2, mitochondrial OS=Homo sapiens OX=9606 GN=TK2 PE=1 SV=1 CANONICAL=O00142-1" }, "locus": { "chromosome": "16", "start_pos": 66517877, "end_pos": 66513781, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676904.1", "url": "https://www.ensembl.org/id/ENST00000676904.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504847.1", "url": "https://www.ensembl.org/id/ENSP00000504847.1" } ] } }, { "isoform_ac": "A0A7P0MLU2-1", "url": "", "sequence": { "sequence": "MGAFCQRPSSDKEQEKEKKSVVLTEPVSKWRNVRGHNPLGLMYHDASRWGLTLQTYVQLTMLDRHTRPQVSSVRLMERSIHSARYIFVENLYRSGKMPEVDYVVLSEWFDWILRNMDVSVDLIVYLRTNPETCYQRLKKRCREEEKVIPLEYLEAIHHLHEEWLIKGSLFPMAAPVLVIEADHHMERMLELFEQNRDRILTPENRKHCP", "length": 209, "header": "tr|A0A7P0MLU2-1|KITM_HUMAN Computationally mapped isoform of Thymidine kinase 2, mitochondrial OS=Homo sapiens OX=9606 GN=TK2 PE=1 SV=1 CANONICAL=O00142-1" }, "locus": { "chromosome": "16", "start_pos": 66550283, "end_pos": 66511971, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000299697.12", "url": "https://www.ensembl.org/id/ENST00000299697.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000299697.9", "url": "https://www.ensembl.org/id/ENSP00000299697.9" } ] } }, { "isoform_ac": "A0A7P0PE46-1", "url": "", "sequence": { "sequence": "XGSRGSPASGPGPRRVQRRAWPPDKEQEKEKKSVICVEGNIASGKTTCLEFFSNATDVEVLTEPVSKWRNVRGHNPLGLMYHDASRWGLTLQTYVQLTMLDRHTRPQVSSVRLMERSIHSARYIFVENLYRSGKMPEVDYVVLSEWFDWILRNMDVSVDLIVYLRTNPETCYQRLKKRCREEEKVIPLVIEADHHMERMLELFEQNRDRILTPENRKHCP", "length": 220, "header": "tr|A0A7P0PE46-1|KITM_HUMAN Computationally mapped isoform of Thymidine kinase 2, mitochondrial OS=Homo sapiens OX=9606 GN=TK2 PE=1 SV=1 CANONICAL=O00142-1" }, "locus": { "chromosome": "16", "start_pos": 66550005, "end_pos": 66511969, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000527284.6", "url": "https://www.ensembl.org/id/ENST00000527284.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000435312.2", "url": "https://www.ensembl.org/id/ENSP00000435312.2" } ] } }, { "isoform_ac": "A0A7P0SB82-1", "url": "", "sequence": { "sequence": "MLLWPLRGWAARALRCFGPGSRGSPASGPGPRRVQRRAWPPDKEQEKEKKSVVLTEPVSKWRNVRGHNPLGLMYHDASRWGLTLQTYVQLTMLDRHTRPQVSSVRLMERSIHSARYIFVENLYRRNTWKQFTISMRSGSSKAAFSPWQPLFW", "length": 152, "header": "tr|A0A7P0SB82-1|A0A7P0SB82_HUMAN Computationally mapped isoform of Thymidine kinase 2 OS=Homo sapiens OX=9606 GN=TK2 PE=1 SV=1 CANONICAL=O00142-1" }, "locus": { "chromosome": "16", "start_pos": 66550061, "end_pos": 66512066, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000620035.5", "url": "https://www.ensembl.org/id/ENST00000620035.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000483833.2", "url": "https://www.ensembl.org/id/ENSP00000483833.2" } ] } }, { "isoform_ac": "H3BP77-1", "url": "", "sequence": { "sequence": "MLLWPLRGWAARALRCFGPGSRGSPASGPGPRRVQRRAWPPDKEQEKEKKSVICVEGNIASGKTTCLEFFSNATDVEVLTEPVSKWRNVRGHNPLGLMYHDASRWGLTLQTYVQLTMLDRHTRPQVSSVRLMERSIHSARYIFVENLYRSGKMPEVDYVVLSEWFDWILRNMDVSVDLIVYLRTNPETCYQRLKKRCREEEKVIPLVGSALSTPDRLLVFPWQEYLEAIHHLHEEWLIKGSLFPMAAPVLVIEADHHMERMLELFEQNRDRILTPENRKHCP", "length": 282, "header": "tr|H3BP77-1|KITM_HUMAN Computationally mapped isoform of Thymidine kinase 2, mitochondrial OS=Homo sapiens OX=9606 GN=TK2 PE=1 SV=1 CANONICAL=O00142-1" }, "locus": { "chromosome": "16", "start_pos": 66550061, "end_pos": 66511971, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000564917.5", "url": "https://www.ensembl.org/id/ENST00000564917.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000455187.1", "url": "https://www.ensembl.org/id/ENSP00000455187.1" } ] } }, { "isoform_ac": "H3BV57-1", "url": "", "sequence": { "sequence": "MLLWPLRGWAARALRCFGPGSRGSPASGPGPRRVQRRAWPPDKEQEKEKKSVRRRLAVLPRLASNSWAQVILWHQPPE", "length": 78, "header": "tr|H3BV57-1|KITM_HUMAN Computationally mapped isoform of Thymidine kinase 2, mitochondrial OS=Homo sapiens OX=9606 GN=TK2 PE=1 SV=2 CANONICAL=O00142-1" }, "locus": { "chromosome": "16", "start_pos": 66550061, "end_pos": 66547988, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000567357.6", "url": "https://www.ensembl.org/id/ENST00000567357.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000457959.2", "url": "https://www.ensembl.org/id/ENSP00000457959.2" } ] } }, { "isoform_ac": "J3KS73-1", "url": "", "sequence": { "sequence": "MYHDASRWGLTLQTYVQLTMLDRHTRPQVSSVRLMERSIHSARYIFVENLYRSGKMPEVDYVVLSEWFDWILRNMDVSVDLIVYLRTNPETCYQRLKKRCREEEKVIPLEYLEAIHHLHEEWLIKGSLFP", "length": 130, "header": "tr|J3KS73-1|KITM_HUMAN Computationally mapped isoform of Thymidine kinase 2, mitochondrial OS=Homo sapiens OX=9606 GN=TK2 PE=1 SV=1 CANONICAL=O00142-1" }, "locus": { "chromosome": "16", "start_pos": 66531463, "end_pos": 66513749, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000563478.5", "url": "https://www.ensembl.org/id/ENST00000563478.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000462341.1", "url": "https://www.ensembl.org/id/ENSP00000462341.1" } ] } }, { "isoform_ac": "J3KSZ2-1", "url": "", "sequence": { "sequence": "XEEWLIKGSLFPMAAPVLEPFT", "length": 22, "header": "tr|J3KSZ2-1|KITM_HUMAN Computationally mapped isoform of Thymidine kinase 2, mitochondrial OS=Homo sapiens OX=9606 GN=TK2 PE=1 SV=1 CANONICAL=O00142-1" }, "locus": { "chromosome": "16", "start_pos": 66513783, "end_pos": 66508759, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000561905.2", "url": "https://www.ensembl.org/id/ENST00000561905.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000462721.1", "url": "https://www.ensembl.org/id/ENSP00000462721.1" } ] } }, { "isoform_ac": "J3QL12-1", "url": "", "sequence": { "sequence": "MYHDASRWGLTLQTYVQLTMLDRHTRPQVSSVRLMERSIHSARYIFVENLYRSGKMPEVDYVVLSEWFDWILRNMDVSVDLIVYLRTN", "length": 88, "header": "tr|J3QL12-1|KITM_HUMAN Computationally mapped isoform of Thymidine kinase 2, mitochondrial OS=Homo sapiens OX=9606 GN=TK2 PE=1 SV=8 CANONICAL=O00142-1" }, "locus": { "chromosome": "16", "start_pos": 66531463, "end_pos": 66517199, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000562484.2", "url": "https://www.ensembl.org/id/ENST00000562484.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000463326.1", "url": "https://www.ensembl.org/id/ENSP00000463326.1" } ] } }, { "isoform_ac": "J3QRP0-1", "url": "", "sequence": { "sequence": "MGAFCQRPSSDKEQEKEKKSVICVEGNIASGKTTCLEFFSNATDVEVLTEPVSKWRNVRGHNPLGLMYHDASRWGLTLQTYVQLTMLDRHTRPQVSSVRLMERSIHSARYIFVENLYRRNTWKQFTISMRSGSSKAAFSPWQPLFW", "length": 146, "header": "tr|J3QRP0-1|KITM_HUMAN Computationally mapped isoform of Thymidine kinase 2, mitochondrial OS=Homo sapiens OX=9606 GN=TK2 PE=1 SV=2 CANONICAL=O00142-1" }, "locus": { "chromosome": "16", "start_pos": 66550283, "end_pos": 66512066, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000569718.6", "url": "https://www.ensembl.org/id/ENST00000569718.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000464313.2", "url": "https://www.ensembl.org/id/ENSP00000464313.2" } ] } }, { "isoform_ac": "O00142-1", "url": "", "sequence": { "sequence": "MLLWPLRGWAARALRCFGPGSRGSPASGPGPRRVQRRAWPPDKEQEKEKKSVICVEGNIASGKTTCLEFFSNATDVEVLTEPVSKWRNVRGHNPLGLMYHDASRWGLTLQTYVQLTMLDRHTRPQVSSVRLMERSIHSARYIFVENLYRSGKMPEVDYVVLSEWFDWILRNMDVSVDLIVYLRTNPETCYQRLKKRCREEEKVIPLEYLEAIHHLHEEWLIKGSLFPMAAPVLVIEADHHMERMLELFEQNRDRILTPENRKHCP", "length": 265, "header": "sp|O00142-1|KITM_HUMAN Isoform 1 of Thymidine kinase 2, mitochondrial OS=Homo sapiens OX=9606 GN=TK2 PE=1 SV=4 CANONICAL=O00142-1" }, "locus": { "chromosome": "16", "start_pos": 66550061, "end_pos": 66511971, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000544898.6", "url": "https://www.ensembl.org/id/ENST00000544898.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000440898.2", "url": "https://www.ensembl.org/id/ENSP00000440898.2" } ] } }, { "isoform_ac": "O00142-2", "url": "", "sequence": { "sequence": "MGAFCQRPSSDKEQEKEKKSVICVEGNIASGKTTCLEFFSNATDVEVLTEPVSKWRNVRGHNPLGLMYHDASRWGLTLQTYVQLTMLDRHTRPQVSSVRLMERSIHSARYIFVENLYRSGKMPEVDYVVLSEWFDWILRNMDVSVDLIVYLRTNPETCYQRLKKRCREEEKVIPLEYLEAIHHLHEEWLIKGSLFPMAAPVLVIEADHHMERMLELFEQNRDRILTPENRKHCP", "length": 234, "header": "sp|O00142-2|KITM_HUMAN Isoform 2 of Thymidine kinase 2, mitochondrial OS=Homo sapiens OX=9606 GN=TK2 PE=1 SV=4 CANONICAL=O00142-1" }, "locus": { "chromosome": "16", "start_pos": 66550283, "end_pos": 66511971, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000451102.7", "url": "https://www.ensembl.org/id/ENST00000451102.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000414334.4", "url": "https://www.ensembl.org/id/ENSP00000414334.4" } ] } }, { "isoform_ac": "O00142-3", "url": "", "sequence": { "sequence": "MLLWPLRGWAARALRCFGPGSRGSPASGPGPRRVQRRAWPPDKEQEKEKKSVVLTEPVSKWRNVRGHNPLGLMYHDASRWGLTLQTYVQLTMLDRHTRPQVSSVRLMERSIHSARYIFVENLYRSGKMPEVDYVVLSEWFDWILRNMDVSVDLIVYLRTNPETCYQRLKKRCREEEKVIPLEYLEAIHHLHEEWLIKGSLFPMAAPVLVIEADHHMERMLELFEQNRDRILTPENRKHCP", "length": 240, "header": "sp|O00142-3|KITM_HUMAN Isoform 3 of Thymidine kinase 2, mitochondrial OS=Homo sapiens OX=9606 GN=TK2 PE=1 SV=4 CANONICAL=O00142-1" }, "locus": { "chromosome": "16", "start_pos": 66550061, "end_pos": 66511971, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000545043.6", "url": "https://www.ensembl.org/id/ENST00000545043.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000438143.2", "url": "https://www.ensembl.org/id/ENSP00000438143.2" } ] } }, { "isoform_ac": "O00142-4", "url": "", "sequence": { "sequence": "MLLWPLRGWAARALRCFGPGSRGSPASGPGPRRVQRRAWPPDKEQEKEKKSVICVEGNIASGKTTCLEFFSNATDVEGLMYHDASRWGLTLQTYVQLTMLDRHTRPQVSSVRLMERSIHSARYIFVENLYRSGKMPEVDYVVLSEWFDWILRNMDVSVDLIVYLRTNPETCYQRLKKRCREEEKVIPLEYLEAIHHLHEEWLIKGSLFPMAAPVLVIEADHHMERMLELFEQNRDRILTPENRKHCP", "length": 247, "header": "sp|O00142-4|KITM_HUMAN Isoform 4 of Thymidine kinase 2, mitochondrial OS=Homo sapiens OX=9606 GN=TK2 PE=1 SV=4 CANONICAL=O00142-1" }, "locus": {} }, { "isoform_ac": "O00142-5", "url": "", "sequence": { "sequence": "MYHDASRWGLTLQTYVQLTMLDRHTRPQVSSVRLMERSIHSARYIFVENLYRSGKMPEVDYVVLSEWFDWILRNMDVSVDLIVYLRTNPETCYQRLKKRCREEEKVIPLEYLEAIHHLHEEWLIKGSLFPMAAPVLVIEADHHMERMLELFEQNRDRILTPENRKHCP", "length": 168, "header": "sp|O00142-5|KITM_HUMAN Isoform 5 of Thymidine kinase 2, mitochondrial OS=Homo sapiens OX=9606 GN=TK2 PE=1 SV=4 CANONICAL=O00142-1" }, "locus": { "chromosome": "16", "start_pos": 66531463, "end_pos": 66511971, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677715.1", "url": "https://www.ensembl.org/id/ENST00000677715.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502950.1", "url": "https://www.ensembl.org/id/ENSP00000502950.1" } ] } }, { "isoform_ac": "O00142-6", "url": "", "sequence": { "sequence": "MRPGLFKGQAPGSRRRPTAGLAVVRADSHKKEPRASGSARPAMLLWPLRGWAARALRCFGPGSRGSPASGPGPRRVQRRAWPPDKEQEKEKKSVICVEGNIASGKTTCLEFFSNATDVEVLTEPVSKWRNVRGHNPLGLMYHDASRWGLTLQTYVQLTMLDRHTRPQVSSVRLMERSIHSARYIFVENLYRSGKMPEVDYVVLSEWFDWILRNMDVSVDLIVYLRTNPETCYQRLKKRCREEEKVIPLEYLEAIHHLHEEWLIKGSLFPMAAPVLVIEADHHMERMLELFEQNRDRILTPENRKHCP", "length": 307, "header": "sp|O00142-6|KITM_HUMAN Isoform 6 of Thymidine kinase 2, mitochondrial OS=Homo sapiens OX=9606 GN=TK2 PE=1 SV=4 CANONICAL=O00142-1" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Human deoxythymidine kinase. I. Purification and general properties of the cytoplasmic and mitochondrial isozymes derived from blast cells of acute myelocytic leukemia.", "journal": "The Journal of biological chemistry", "date": "1976", "authors": "Lee LS, Cheng YC", "evidence": [ { "database": "Reactome", "id": "R-HSA-73614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73614" } ], "reference": [ { "type": "PubMed", "id": "1063125", "url": "https://glygen.org/publication/PubMed/1063125" } ] }, { "title": "Phosphorylation of uridine and cytidine nucleoside analogs by two human uridine-cytidine kinases.", "journal": "Molecular pharmacology", "date": "2001", "authors": "Van Rompay AR, Norda A, Linden K, Johansson M, Karlsson A", "evidence": [ { "database": "Reactome", "id": "R-HSA-73614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73614" } ], "reference": [ { "type": "PubMed", "id": "11306702", "url": "https://glygen.org/publication/PubMed/11306702" } ] }, { "title": "Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy.", "journal": "Nature genetics", "date": "2001", "authors": "Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O", "evidence": [ { "database": "UniProtKB", "id": "O00142", "url": "https://www.uniprot.org/uniprot/O00142" } ], "reference": [ { "type": "PubMed", "id": "11687801", "url": "https://glygen.org/publication/PubMed/11687801" } ] }, { "title": "Epstein-Barr virus encoded nuclear protein EBNA-3 binds a novel human uridine kinase/uracil phosphoribosyltransferase.", "journal": "BMC cell biology", "date": "2002", "authors": "Kashuba E, Kashuba V, Sandalova T, Klein G, Szekely L", "evidence": [ { "database": "Reactome", "id": "R-HSA-73614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73614" } ], "reference": [ { "type": "PubMed", "id": "12199906", "url": "https://glygen.org/publication/PubMed/12199906" } ] }, { "title": "Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA.", "journal": "Neurology", "date": "2002", "authors": "Mancuso M, Salviati L, Sacconi S, Otaegui D, Camano P, Marina A, Bacman S, Moraes CT, Carlo JR, Garcia M, Garcia-Alvarez M, Monzon L, Naini AB, Hirano M, Bonilla E, Taratuto AL, DiMauro S, Vu TH", "evidence": [ { "database": "UniProtKB", "id": "O00142", "url": "https://www.uniprot.org/uniprot/O00142" } ], "reference": [ { "type": "PubMed", "id": "12391347", "url": "https://glygen.org/publication/PubMed/12391347" } ] }, { "title": "Identification of residues involved in the substrate specificity of human and murine dCK.", "journal": "Biochemical pharmacology", "date": "2002", "authors": "Usova EV, Eriksson S", "evidence": [ { "database": "Reactome", "id": "R-HSA-73614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73614" } ], "reference": [ { "type": "PubMed", "id": "12429345", "url": "https://glygen.org/publication/PubMed/12429345" } ] }, { "title": "Structure of human dCK suggests strategies to improve anticancer and antiviral therapy.", "journal": "Nature structural biology", "date": "2003", "authors": "Sabini E, Ort S, Monnerjahn C, Konrad M, Lavie A", "evidence": [ { "database": "Reactome", "id": "R-HSA-73614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73614" } ], "reference": [ { "type": "PubMed", "id": "12808445", "url": "https://glygen.org/publication/PubMed/12808445" } ] }, { "title": "Identification of a novel human uridine phosphorylase.", "journal": "Biochemical and biophysical research communications", "date": "2003", "authors": "Johansson M", "evidence": [ { "database": "Reactome", "id": "R-HSA-73614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73614" } ], "reference": [ { "type": "PubMed", "id": "12849978", "url": "https://glygen.org/publication/PubMed/12849978" } ] }, { "title": "Nucleotide specificity of human deoxycytidine kinase.", "journal": "Molecular pharmacology", "date": "1992", "authors": "Shewach DS, Reynolds KK, Hertel L", "evidence": [ { "database": "Reactome", "id": "R-HSA-73614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73614" } ], "reference": [ { "type": "PubMed", "id": "1406603", "url": "https://glygen.org/publication/PubMed/1406603" } ] }, { "title": "Substrate specificity and phosphorylation of antiviral and anticancer nucleoside analogues by human deoxyribonucleoside kinases and ribonucleoside kinases.", "journal": "Pharmacology & therapeutics", "date": "2003", "authors": "Van Rompay AR, Johansson M, Karlsson A", "evidence": [ { "database": "Reactome", "id": "R-HSA-73614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73614" } ], "reference": [ { "type": "PubMed", "id": "14609716", "url": "https://glygen.org/publication/PubMed/14609716" } ] }, { "title": "Crystal structure of human thymidine phosphorylase in complex with a small molecule inhibitor.", "journal": "Structure (London, England : 1993)", "date": "2004", "authors": "Norman RA, Barry ST, Bate M, Breed J, Colls JG, Ernill RJ, Luke 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"name": "DNA biosynthetic process", "id": "GO:0071897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071897", "evidence": [ { "database": "UniProtKB", "id": "O00142", "url": "https://www.uniprot.org/uniprot/O00142" } ], "pmid": "" }, { "name": "deoxycytidine metabolic process", "id": "GO:0046092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046092", "evidence": [ { "database": "UniProtKB", "id": "O00142", "url": "https://www.uniprot.org/uniprot/O00142" } ], "pmid": "" }, { "name": "thymidine metabolic process", "id": "GO:0046104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046104", "evidence": [ { "database": "UniProtKB", "id": "O00142", "url": "https://www.uniprot.org/uniprot/O00142" } ], "pmid": "" }, { "name": "phosphorylation", "id": "GO:0016310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016310", "evidence": [ { "database": "UniProtKB", "id": "O00142", "url": "https://www.uniprot.org/uniprot/O00142" } ], "pmid": "" }, { "name": "nucleobase-containing compound metabolic process", "id": "GO:0006139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006139", "evidence": [ { "database": "UniProtKB", "id": "O00142", "url": "https://www.uniprot.org/uniprot/O00142" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O00142", "url": "https://www.uniprot.org/uniprot/O00142" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O00142", "url": "https://www.uniprot.org/uniprot/O00142" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "O00142", "url": "https://www.uniprot.org/uniprot/O00142" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 72, "end_pos": 74, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "19129", "name": "", "equation": "ATP + thymidine = ADP + dTMP + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P27158-1", "A0A8I6GCC5-1", "A0A8I6A0B0-1", "P04183-1", "O00142-1", "P04184-1", "Q9R088-1", "Q27564-1" ], "evidence": [ { "id": "19129", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/19129" } ] }, { "id": "28206", "name": "", "equation": "2'-deoxyuridine + ATP = ADP + dUMP + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O00142-1", "Q9R088-1" ], "evidence": [ { "id": "28206", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/28206" } ] }, { "id": "46040", "name": "", "equation": "2'-deoxycytidine + ATP = ADP + dCMP + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O00142-1", "Q9R088-1" ], "evidence": [ { "id": "46040", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/46040" } ] }, { "id": "R-HSA-109759", "name": "deoxycytidine, thymidine, or deoxyuridine + ATP => dCMP, TMP, or dUMP + ADP [TK2]", "equation": "", "summary": "Mitochondrial thymidine kinase 2 (TK2) catalyzes the reactions of deoxycytidine, thymidine, and deoxyuridine with ATP to form the corresponding deoxynucleotide monophosphates and ADP. The enzyme has been purified from human spleen and is active as a monomer (Munch-Petersen et al. 1991). The enzyme requires divalent cations for activity (Mg++ is preferred) but the nature of the association between the metal ion and the enzyme polypeptide is unclear (Lee and Cheng 1976). The mitochondrial localization of the enzyme has been established experimentally for rats and cattle (Jansson et al. 1992); its mitochondrial localization in humans is inferred from these results and the presence of a mitochondrial localization motif at the amino terminus of the open reading frame of a cloned human cDNA that is missing from the mature catalytically active protein (Wang et al. 1999).", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O00142-1" ], "evidence": [ { "id": "R-HSA-109759", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-109759" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A0A8I6A0B0", "gene_name": "ENSRNOG00000063353", "activity": [ { "ec_number": "2.7.1.21", "activity": "ATP + thymidine = ADP + dTMP + H(+).", "evidence": [ { "id": "A0A8I6A0B0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6A0B0" } ] }, { "ec_number": "2.7.1.21", "activity": "", "evidence": [ { "id": "A0A8I6A0B0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6A0B0" } ] } ] }, { "uniprot_ac": "A0A8I6GCC5", "gene_name": "AC112350.1", "activity": [ { "ec_number": "2.7.1.21", "activity": "ATP + thymidine = ADP + dTMP + H(+).", "evidence": [ { "id": "A0A8I6GCC5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6GCC5" } ] }, { "ec_number": "2.7.1.21", "activity": "", "evidence": [ { "id": "A0A8I6GCC5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6GCC5" } ] } ] }, { "uniprot_ac": "O00142", "gene_name": "TK2", "activity": [ { "ec_number": "2.7.1.74", "activity": "2'-deoxycytidine + UTP = dCMP + H(+) + UDP.", "evidence": [ { "id": "O00142", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00142" } ] }, { "ec_number": "2.7.1.21", "activity": "ATP + thymidine = ADP + dTMP + H(+).", "evidence": [ { "id": "O00142", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00142" } ] }, { "ec_number": "2.7.1.-", "activity": "", "evidence": [ { "id": "O00142", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00142" } ] }, { "ec_number": "2.7.1.21", "activity": "", "evidence": [ { "id": "O00142", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00142" } ] } ] }, { "uniprot_ac": "P04183", "gene_name": "TK1", "activity": [ { "ec_number": "2.7.1.21", "activity": "ATP + thymidine = ADP + dTMP + H(+).", "evidence": [ { "id": "P04183", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04183" } ] }, { "ec_number": "2.7.1.21", "activity": "", "evidence": [ { "id": "P04183", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04183" } ] } ] }, { "uniprot_ac": "P04184", "gene_name": "Tk1", "activity": [ { "ec_number": "2.7.1.21", "activity": "ATP + thymidine = ADP + dTMP + H(+).", "evidence": [ { "id": "P04184", "database": "UniProtKB", "url": 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