{ "uniprot_canonical_ac": "O95551-1", "uniprot_ac": "O95551", "uniprot_id": "TYDP2_HUMAN", "mass": { "chemical_mass": 40930.0, "monoisotopic_mass": 40930.0 }, "refseq": { "ac": "NP_057698", "name": "tyrosyl-DNA phosphodiesterase 2", "summary": "This gene encodes a member of a superfamily of divalent cation-dependent phosphodiesterases. The encoded protein associates with CD40, tumor necrosis factor (TNF) receptor-75 and TNF receptor associated factors (TRAFs), and inhibits nuclear factor-kappa-B activation. This protein has sequence and structural similarities with APE1 endonuclease, which is involved in both DNA repair and the activation of transcription factors. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057698" }, "gene_names": [ { "name": "TDP2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95551", "id": "O95551" }, { "name": "AD-022", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95551", "id": "O95551" }, { "name": "AD022; dJ30M3.3; EAP2; EAPII; hTDP2; TTRAP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057698", "id": "NP_057698" }, { "name": "EAP2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95551", "id": "O95551" }, { "name": "TDP2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057698", "id": "NP_057698" }, { "name": "TTRAP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95551", "id": "O95551" }, { "name": "hCG_37519", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95551", "id": "O95551" } ], "protein_names": [ { "name": "Tyrosyl-DNA phosphodiesterase 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95551" }, { "name": "3.1.4.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95551" }, { "name": "5'-Tyr-DNA phosphodiesterase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95551" }, { "name": "5'-tyrosyl-DNA phosphodiesterase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95551" }, { "name": "EAPII", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95551" }, { "name": "ETS1-associated protein 2; 5'-tyrosyl-DNA phosphodiesterase; ETS1-associated protein II; epididymis secretory sperm binding protein; tyr-DNA phosphodiesterase 2; 5'-Tyr-DNA phosphodiesterase; VPg unlinkase; tyrosyl-RNA phosphodiesterase; TRAF and TNF receptor-associated protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057698", "id": "NP_057698" }, { "name": "ETS1-associated protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95551" }, { "name": "ETS1-associated protein II", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95551" }, { "name": "TRAF and TNF receptor-associated protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95551" }, { "name": "Tyr-DNA phosphodiesterase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95551" }, { "name": "Tyrosyl-RNA phosphodiesterase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95551" }, { "name": "VPg unlinkase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95551" }, { "name": "hTDP2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95551" }, { "name": "tyrosyl-DNA phosphodiesterase 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057698", "id": "NP_057698" } ], "function": [ { "annotation": "(Microbial infection) Also acts as a 5'-tyrosyl-RNA phosphodiesterase following picornavirus infection: its activity is hijacked by picornavirus and acts by specifically cleaving the protein-RNA covalent linkage generated during the viral genomic RNA replication steps of a picornavirus infection, without impairing the integrity of viral RNA.", "evidence": [ { "database": "UniProtKB", "id": "O95551", "url": "https://www.uniprot.org/uniprot/O95551#function" }, { "database": "PubMed", "id": "22908287", "url": "https://glygen.org/publication/PubMed/22908287" } ] }, { "annotation": "A novel non-sense mutation in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by bilateral upward gaze; report of a case and review of the literature. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_057698", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057698" }, { "database": "PubMed", "id": "34606976", "url": "https://glygen.org/publication/PubMed/34606976" } ] }, { "annotation": "DNA and RNA Cleavage Complexes and Repair Pathway for TOP3B RNA- and DNA-Protein Crosslinks.", "evidence": [ { "database": "RefSeq", "id": "NP_057698", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057698" }, { "database": "PubMed", "id": "33378676", "url": "https://glygen.org/publication/PubMed/33378676" } ] }, { "annotation": "DNA repair enzyme that can remove a variety of covalent adducts from DNA through hydrolysis of a 5'-phosphodiester bond, giving rise to DNA with a free 5' phosphate. Catalyzes the hydrolysis of dead-end complexes between DNA and the topoisomerase 2 (TOP2) active site tyrosine residue. The 5'-tyrosyl DNA phosphodiesterase activity can enable the repair of TOP2-induced DNA double-strand breaks/DSBs without the need for nuclease activity, creating a 'clean' DSB with 5'-phosphate termini that are ready for ligation (PubMed:27099339, PubMed:27060144). Thereby, protects the transcription of many genes involved in neurological development and maintenance from the abortive activity of TOP2. Hydrolyzes 5'-phosphoglycolates on protruding 5' ends on DSBs due to DNA damage by radiation and free radicals. Has preference for single-stranded DNA or duplex DNA with a 4 base pair overhang as substrate. Acts as a regulator of ribosome biogenesis following stress. Has also 3'-tyrosyl DNA phosphodiesterase activity, but less efficiently and much slower than TDP1. Constitutes the major if not only 5'-tyrosyl-DNA phosphodiesterase in cells. Also acts as an adapter by participating in the specific activation of MAP3K7/TAK1 in response to TGF-beta: associates with components of the TGF-beta receptor-TRAF6-TAK1 signaling module and promotes their ubiquitination dependent complex formation. Involved in non-canonical TGF-beta induced signaling routes. May also act as a negative regulator of ETS1 and may inhibit NF-kappa-B activation.", "evidence": [ { "database": "UniProtKB", "id": "O95551", "url": "https://www.uniprot.org/uniprot/O95551#function" }, { "database": "PubMed", "id": "19794497", "url": "https://glygen.org/publication/PubMed/19794497" }, { "database": "PubMed", "id": "21980489", "url": "https://glygen.org/publication/PubMed/21980489" }, { "database": "PubMed", "id": "24658003", "url": "https://glygen.org/publication/PubMed/24658003" }, { "database": "PubMed", "id": "22405347", "url": "https://glygen.org/publication/PubMed/22405347" }, { "database": "PubMed", "id": "21921940", "url": "https://glygen.org/publication/PubMed/21921940" }, { "database": "PubMed", "id": "27060144", "url": "https://glygen.org/publication/PubMed/27060144" }, { "database": "PubMed", "id": "22822062", "url": "https://glygen.org/publication/PubMed/22822062" }, { "database": "PubMed", "id": "21030584", "url": "https://glygen.org/publication/PubMed/21030584" }, { "database": "PubMed", "id": "27099339", "url": "https://glygen.org/publication/PubMed/27099339" } ] }, { "annotation": "Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia.", "evidence": [ { "database": "RefSeq", "id": "NP_057698", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057698" }, { "database": "PubMed", "id": "37558815", "url": "https://glygen.org/publication/PubMed/37558815" } ] }, { "annotation": "Interacts with ETS1 and modulates its transcriptional function", "evidence": [ { "database": "RefSeq", "id": "NP_057698", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057698" }, { "database": "PubMed", "id": "12743594", "url": "https://glygen.org/publication/PubMed/12743594" } ] }, { "annotation": "This gene encodes a member of a superfamily of divalent cation-dependent phosphodiesterases. The encoded protein associates with CD40, tumor necrosis factor (TNF) receptor-75 and TNF receptor associated factors (TRAFs), and inhibits nuclear factor-kappa-B activation. This protein has sequence and structural similarities with APE1 endonuclease, which is involved in both DNA repair and the activation of transcription factors. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_057698", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057698" } ] }, { "annotation": "Untangling trapped topoisomerases with tyrosyl-DNA phosphodiesterases. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_057698", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057698" }, { "database": "PubMed", "id": "32653827", "url": "https://glygen.org/publication/PubMed/32653827" } ] } ], "disease": [ { "disease_id": "DOID:0111613", "recommended_name": { "id": "DOID:0111613", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111613", "name": "autosomal recessive spinocerebellar ataxia 23", "description": "An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the TDP2 gene on chromosome 6p22.3." }, "synonyms": [ { "id": "DOID:0111613", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111613", "name": "SCAR23", "description": "" }, { "id": "DOID:0111613", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111613", "name": "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency", "description": "" }, { "id": "MONDO:0014846", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014846", "name": "spinocerebellar ataxia, autosomal recessive 23", "description": "" }, { "id": "MONDO:0014846", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014846", "name": "SCAR23", "description": "" }, { "id": "MONDO:0014846", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014846", "name": "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency", "description": "" }, { "id": "MONDO:0014846", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014846", "name": "spinocerebellar ataxia autosomal recessive type 23", "description": "" }, { "id": "MONDO:0014846", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014846", "name": "spinocerebellar ataxia, autosomal recessive 23", "description": "" }, { "id": "MONDO:0014846", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014846", "name": "spinocerebellar ataxia, autosomal recessive type 23", "description": "" }, { "id": "MIM:616949", "resource": "MIM", "url": "https://www.omim.org/entry/616949", "name": "Spinocerebellar ataxia, autosomal recessive, 23", "description": "Spinocerebellar ataxia, autosomal recessive, 23" } ], "evidence": [ { "id": "616949", "database": "MIM", "url": "https://www.omim.org/entry/616949" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 120, "end_pos": 120, "sequence_org": "N", "sequence_mut": "A", "comment": "Strongly reduced phosphodiesterase activity.", "evidence": [ { "database": "UniProtKB", "id": "O95551", "url": "https://www.uniprot.org/uniprot/O95551" }, { "database": "PubMed", "id": "22822062", "url": "https://glygen.org/publication/PubMed/22822062" } ] }, { "start_pos": 152, "end_pos": 152, "sequence_org": "E", "sequence_mut": "A", "comment": "Loss of phosphodiesterase activity.", "evidence": [ { "database": "UniProtKB", "id": "O95551", "url": "https://www.uniprot.org/uniprot/O95551" }, { "database": "PubMed", "id": "19794497", "url": "https://glygen.org/publication/PubMed/19794497" }, { "database": "PubMed", "id": "22822062", "url": "https://glygen.org/publication/PubMed/22822062" } ] }, { "start_pos": 178, "end_pos": 178, "sequence_org": "Y", "sequence_mut": "F", "comment": "Strongly decreased phosphodiesterase activity.", "evidence": [ { "database": "UniProtKB", "id": "O95551", "url": "https://www.uniprot.org/uniprot/O95551" }, { "database": "PubMed", "id": "27060144", "url": "https://glygen.org/publication/PubMed/27060144" } ] }, { "start_pos": 178, "end_pos": 178, "sequence_org": "Y", "sequence_mut": "W", "comment": "Strongly decreased phosphodiesterase activity.", "evidence": [ { "database": "UniProtKB", "id": "O95551", "url": "https://www.uniprot.org/uniprot/O95551" }, { "database": "PubMed", "id": "27060144", "url": "https://glygen.org/publication/PubMed/27060144" } ] }, { "start_pos": 206, "end_pos": 206, "sequence_org": "R", "sequence_mut": "A", "comment": "Loss of phosphodiesterase activity.", "evidence": [ { "database": "UniProtKB", "id": "O95551", "url": "https://www.uniprot.org/uniprot/O95551" }, { "database": "PubMed", "id": "27060144", "url": "https://glygen.org/publication/PubMed/27060144" } ] }, { "start_pos": 206, "end_pos": 206, "sequence_org": "R", "sequence_mut": "K", "comment": "Loss of phosphodiesterase activity.", "evidence": [ { "database": "UniProtKB", "id": "O95551", "url": "https://www.uniprot.org/uniprot/O95551" }, { "database": "PubMed", "id": "27060144", "url": "https://glygen.org/publication/PubMed/27060144" } ] }, { "start_pos": 262, "end_pos": 262, "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of phosphodiesterase activity.", "evidence": [ { "database": "UniProtKB", "id": "O95551", "url": "https://www.uniprot.org/uniprot/O95551" }, { "database": "PubMed", "id": "19794497", "url": "https://glygen.org/publication/PubMed/19794497" }, { "database": "PubMed", "id": "22822062", "url": "https://glygen.org/publication/PubMed/22822062" } ] }, { "start_pos": 262, "end_pos": 262, "sequence_org": "D", "sequence_mut": "H", "comment": "Loss of phosphodiesterase activity.", "evidence": [ { "database": "UniProtKB", "id": "O95551", "url": "https://www.uniprot.org/uniprot/O95551" }, { "database": "PubMed", "id": "27060144", "url": "https://glygen.org/publication/PubMed/27060144" } ] }, { "start_pos": 262, "end_pos": 262, "sequence_org": "D", "sequence_mut": "L", "comment": "Loss of phosphodiesterase activity.", "evidence": [ { "database": "UniProtKB", "id": "O95551", "url": "https://www.uniprot.org/uniprot/O95551" }, { "database": "PubMed", "id": "27060144", "url": "https://glygen.org/publication/PubMed/27060144" } ] }, { "start_pos": 262, "end_pos": 262, "sequence_org": "D", "sequence_mut": "M", "comment": "Loss of phosphodiesterase activity.", "evidence": [ { "database": "UniProtKB", "id": "O95551", "url": "https://www.uniprot.org/uniprot/O95551" }, { "database": "PubMed", "id": "27060144", "url": "https://glygen.org/publication/PubMed/27060144" } ] }, { "start_pos": 305, "end_pos": 305, "sequence_org": "L", "sequence_mut": "A", "comment": "Decreased phosphodiesterase activity.", "evidence": [ { "database": "UniProtKB", "id": "O95551", "url": "https://www.uniprot.org/uniprot/O95551" }, { "database": "PubMed", "id": "27060144", "url": "https://glygen.org/publication/PubMed/27060144" } ] }, { "start_pos": 305, "end_pos": 305, "sequence_org": "L", "sequence_mut": "F", "comment": "Decreased phosphodiesterase activity.", "evidence": [ { "database": "UniProtKB", "id": "O95551", "url": "https://www.uniprot.org/uniprot/O95551" }, { "database": "PubMed", "id": "27060144", "url": "https://glygen.org/publication/PubMed/27060144" } ] }, { "start_pos": 305, "end_pos": 305, "sequence_org": "L", "sequence_mut": "W", "comment": "Decreased phosphodiesterase activity.", "evidence": [ { "database": "UniProtKB", "id": "O95551", "url": "https://www.uniprot.org/uniprot/O95551" }, { "database": "PubMed", "id": "27060144", "url": "https://glygen.org/publication/PubMed/27060144" } ] }, { "start_pos": 316, "end_pos": 316, "sequence_org": "D", "sequence_mut": "N", "comment": "Strongly decreased phosphodiesterase activity.", "evidence": [ { "database": "UniProtKB", "id": "O95551", "url": "https://www.uniprot.org/uniprot/O95551" }, { "database": "PubMed", "id": "27060144", "url": "https://glygen.org/publication/PubMed/27060144" } ] }, { "start_pos": 350, "end_pos": 350, "sequence_org": "D", "sequence_mut": "N", "comment": "Strongly decreased phosphodiesterase activity.", "evidence": [ { "database": "UniProtKB", "id": "O95551", "url": "https://www.uniprot.org/uniprot/O95551" }, { "database": "PubMed", "id": "27060144", "url": "https://glygen.org/publication/PubMed/27060144" } ] }, { "start_pos": 351, "end_pos": 351, "sequence_org": "H", "sequence_mut": "A", "comment": "Loss of phosphodiesterase activity.", "evidence": [ { "database": "UniProtKB", "id": "O95551", "url": "https://www.uniprot.org/uniprot/O95551" }, { "database": "PubMed", "id": "22822062", "url": "https://glygen.org/publication/PubMed/22822062" } ] }, { "start_pos": 351, "end_pos": 351, "sequence_org": "H", "sequence_mut": "Q", "comment": "Loss of phosphodiesterase activity.", "evidence": [ { "database": "UniProtKB", "id": "O95551", "url": "https://www.uniprot.org/uniprot/O95551" }, { "database": "PubMed", "id": "27060144", "url": "https://glygen.org/publication/PubMed/27060144" } ] }, { "start_pos": 88, "end_pos": 88, "sequence_org": "T", "sequence_mut": "A", "comment": "Abolishes function, but retains ability to interact with SMAD3; when associated with A-92.", "evidence": [ { "database": "UniProtKB", "id": "O95551", "url": "https://www.uniprot.org/uniprot/O95551" }, { "database": "PubMed", "id": "18039968", "url": "https://glygen.org/publication/PubMed/18039968" } ] }, { "start_pos": 92, "end_pos": 92, "sequence_org": "T", "sequence_mut": "A", "comment": "Abolishes function, but retains ability to interact with SMAD3; when associated with A-88.", "evidence": [ { "database": "UniProtKB", "id": "O95551", "url": "https://www.uniprot.org/uniprot/O95551" }, { "database": "PubMed", "id": "18039968", "url": "https://glygen.org/publication/PubMed/18039968" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "95.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111802", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111802" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "94.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111802", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111802" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "89.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111802", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111802" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "83.64", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111802", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111802" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "92.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111802", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111802" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "98.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111802", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111802" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "97.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111802", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111802" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "94.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111802", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111802" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "89.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111802", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111802" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "87.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111802", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111802" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "91.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111802", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111802" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "94.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111802", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111802" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "90.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111802", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111802" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95551", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95551" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", 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"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", 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"MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": 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hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95551", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95551" } ], "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": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95551" } ], "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": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O95551", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95551" } ], "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", 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"database": "Ensembl Peptide", "id": "ENSP00000367440.4", "url": "https://www.ensembl.org/id/ENSP00000367440.4" } ] } }, { "isoform_ac": "O95551-2", "url": "", "sequence": { "sequence": "MRERHDTGACAEPRVGLLFRLKGRCRGGRKMELGSCLEGGREAAEEEGEPEVKKRRLLCVEFASVASCDAAVAQCFLAENDWEMERALNSYFEPPVEESALERRPETISEPKTYVDLTNEETTDSTTSKISPSEDTQQENGSMFSLITWNIDGLDLNNLSERARGVCSYLALYSPDVIFLQEVIPPYYSYLKKRSSNYEIITGHEEGYFTAIMLKKSRVKLKSQEIIPFPSTKMMRNLLCVHVNVSGNELCLMTSHLESTRGHAAERMNQLKMVLKKMQEAPESATVIFAGDTNLRDREVTRCGGLPNNIVDVWEFLGKPKHCQYTWDTQMNSNLGITAACKLRFDRIFFRAAAEEGHIIPRSLDLLGLEKLDCGRFPSDHWGLLCNLDIIL", "length": 392, "header": "sp|O95551-2|TYDP2_HUMAN Isoform 2 of Tyrosyl-DNA phosphodiesterase 2 OS=Homo sapiens OX=9606 GN=TDP2 PE=1 SV=1 CANONICAL=O95551-1" }, "locus": {} }, { "isoform_ac": "O95551-3", "url": "", "sequence": { "sequence": "MELGSCLEGGREAAEEEGEPEVKKRRLLCVEFASVASCDAAVAQCFLAENDWEMERALNSYLALYSPDVIFLQEVIPPYYSYLKKRSSNYEIITGHEEGYFTAIMLKKSRVKLKSQEIIPFPSTKMMRNLLCVHVNVSGNELCLMTSHLESTRGHAAERMNQLKMVLKKMQEAPESATVIFAGDTNLRDREVTRCGGLPNNIVDVWEFLGKPKHCQYTWDTQMNSNLGITAACKLRFDRIFFRAAAEEGHIIPRSLDLLGLEKLDCGRFPSDHWGLLCNLDIIL", "length": 284, "header": "sp|O95551-3|TYDP2_HUMAN Isoform 3 of Tyrosyl-DNA phosphodiesterase 2 OS=Homo sapiens OX=9606 GN=TDP2 PE=1 SV=1 CANONICAL=O95551-1" }, "locus": {} }, { "isoform_ac": "X6R5A3-1", "url": "", "sequence": { "sequence": "MATWKSPCFLYCLFILGPRLTGQNNSVDLTNEETTDSTTSKISPSEDTQQENGSMFSLITWNIDGLDLNNLSERARGVCSYLALYSPDVIFLQEVIPPYYSYLKKRSSNYEIITGHEEGYFTAIMLKKSRVKLKSQEIIPFPSTKMMRNLLCVHVNVSGNELCLMTSHLESTRGHAAERMNQLKMVLKKMQEAPESATVIFAGDTNLRDREVTRCGGLPNNIVDVWEFLGKPKHCQYTWDTQMNSNLGITAACKLRFDRIFFRAAAEEGHIIPRSLDLLGLEKLDCGRFPSDHWGLLCNLDIIL", "length": 304, "header": "tr|X6R5A3-1|TYDP2_HUMAN Computationally mapped isoform of Tyrosyl-DNA phosphodiesterase 2 OS=Homo sapiens OX=9606 GN=TDP2 PE=1 SV=1 CANONICAL=O95551-1" }, "locus": { "chromosome": "6", "start_pos": 24666195, "end_pos": 24650791, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000341060.3", "url": "https://www.ensembl.org/id/ENST00000341060.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000345345.3", "url": "https://www.ensembl.org/id/ENSP00000345345.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O95551", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95551" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" } ] } ], "phosphorylation": [ { "start_pos": 60, "end_pos": 60, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95551", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95551" }, { "database": "PubMed", "id": "26701725", "url": "https://glygen.org/publication/PubMed/26701725" } ], "site_lbl": "Ser60" }, { "start_pos": 88, "end_pos": 88, "kinase_uniprot_canonical_ac": "P36896-1", "kinase_gene_name": "ACVR1B", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95551", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95551" }, { "database": "PubMed", "id": "18039968", "url": "https://glygen.org/publication/PubMed/18039968" } ], "site_lbl": "Thr88" }, { "start_pos": 88, "end_pos": 88, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine; by ACVR1B", "evidence": [ { "database": "UniProtKB", "id": "O95551", "url": "https://www.uniprot.org/uniprot/O95551" }, { "database": "iPTMnet", "id": "O95551", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95551" }, { "database": "PubMed", "id": "18039968", "url": "https://glygen.org/publication/PubMed/18039968" } ], "site_lbl": "Thr88" }, { "start_pos": 92, "end_pos": 92, "kinase_uniprot_canonical_ac": "P36896-1", "kinase_gene_name": "ACVR1B", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95551", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95551" }, { "database": "PubMed", "id": "18039968", "url": "https://glygen.org/publication/PubMed/18039968" } ], "site_lbl": "Thr92" }, { "start_pos": 92, "end_pos": 92, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine; by ACVR1B", "evidence": [ { "database": "UniProtKB", "id": "O95551", "url": "https://www.uniprot.org/uniprot/O95551" }, { "database": "iPTMnet", "id": "O95551", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95551" }, { "database": "PubMed", "id": "18039968", "url": "https://glygen.org/publication/PubMed/18039968" } ], "site_lbl": "Thr92" }, { "start_pos": 95, "end_pos": 95, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95551", "url": "https://www.uniprot.org/uniprot/O95551" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95551", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95551" } ], "site_lbl": "Ser95" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Geometry of a complex formed by double strand break repair proteins at a single DNA end: recruitment of DNA-PKcs induces inward translocation of Ku protein.", "journal": "Nucleic acids research", "date": "1999", "authors": "Yoo S, Dynan WS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693571", "url": 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Biol. Chem.", "date": "2000", "authors": "Pype S, Declercq W, Ibrahimi A, Michiels C, Van Rietschoten JG, Dewulf N, de Boer M, Vandenabeele P, Huylebroeck D, Remacle JE", "evidence": [ { "database": "UniProtKB", "id": "O95551", "url": "https://www.uniprot.org/uniprot/O95551" } ], "reference": [ { "type": "PubMed", "id": "10764746", "url": "https://glygen.org/publication/PubMed/10764746" } ] }, { "title": "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning.", "journal": "Proc. Natl. Acad. Sci. 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"title": "TDP1 promotes assembly of non-homologous end joining protein complexes on DNA.", "journal": "DNA repair", "date": "2015", "authors": "Heo J, Li J, Summerlin M, Hays A, Katyal S, McKinnon PJ, Nitiss KC, Nitiss JL, Hanakahi LA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693571", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693571" } ], "reference": [ { "type": "PubMed", "id": "25841101", "url": "https://glygen.org/publication/PubMed/25841101" } ] }, { "title": "ERK3 regulates TDP2-mediated DNA damage response and chemoresistance in lung cancer cells.", "journal": "Oncotarget", "date": "2016", "authors": "Bian K, Muppani NR, Elkhadragy L, Wang W, Zhang C, Chen T, Jung S, Seternes OM, Long W", "evidence": [ { "database": "iPTMnet", "id": "O95551", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95551" } ], "reference": [ { "type": "PubMed", "id": "26701725", "url": "https://glygen.org/publication/PubMed/26701725" } ] }, { "title": "Reversal 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non-sense mutation in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by bilateral upward gaze; report of a case and review of the literature.", "journal": "European journal of medical genetics", "date": "2021", "authors": "Zoghi S, Khamirani HJ, Hassanipour H, Bostanian P, Masoudian R, Dastgheib SA", "evidence": [ { "database": "RefSeq", "id": "NP_057698", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057698" } ], "reference": [ { "type": "PubMed", "id": "34606976", "url": "https://glygen.org/publication/PubMed/34606976" } ] }, { "title": "Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia.", "journal": "Human genetics", "date": "2023-09", "authors": "Zagnoli-Vieira Guido, Brazina Jan, Van Den Bogaert Kris, Huybrechts Wim, Molenaers Guy, Caldecott Keith W, Van Esch Hilde", "evidence": [ { "database": "RefSeq", "id": "NP_057698", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057698" } ], "reference": [ { "type": "PubMed", "id": "37558815", "url": "https://glygen.org/publication/PubMed/37558815" } ] }, { "title": "The DNA-dependent protein kinase: requirement for DNA ends and association with Ku antigen.", "journal": "Cell", "date": "1993", "authors": "Gottlieb TM, Jackson SP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693571", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693571" } ], "reference": [ { "type": "PubMed", "id": "8422676", "url": "https://glygen.org/publication/PubMed/8422676" } ] }, { "title": "Mammalian DNA double-strand break repair protein XRCC4 interacts with DNA ligase IV.", "journal": "Current biology : CB", "date": "1997", "authors": "Critchlow SE, Bowater RP, Jackson SP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693571", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693571" } ], "reference": [ { "type": "PubMed", "id": "9259561", "url": "https://glygen.org/publication/PubMed/9259561" } ] }, { "title": "The XRCC4 gene product is a target for and interacts with the DNA-dependent protein kinase.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Leber R, Wise TW, Mizuta R, Meek K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693571", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693571" } ], "reference": [ { "type": "PubMed", "id": "9430729", "url": "https://glygen.org/publication/PubMed/9430729" } ] }, { "title": "Interaction of Ku protein and DNA-dependent protein kinase catalytic subunit with nucleic acids.", "journal": "Nucleic acids research", "date": "1998", "authors": "Dynan WS, Yoo S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693571", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693571" } ], "reference": [ { "type": "PubMed", "id": "9512523", "url": "https://glygen.org/publication/PubMed/9512523" } ] }, { "title": "DNA end-joining catalyzed by human cell-free extracts.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Baumann P, West SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693571", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693571" } ], "reference": [ { "type": "PubMed", "id": "9826654", "url": "https://glygen.org/publication/PubMed/9826654" } ] } ], "pathway": [ { "id": "R-HSA-5693571", "name": "Nonhomologous End-Joining (NHEJ)", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693571", "resource": "Reactome", "description": "Nonhomologous End-Joining (NHEJ)" } ], "orthologs": [ { "uniprot_canonical_ac": "Q3T1H5-1", "protein_name": "Tyrosyl-DNA phosphodiesterase 2", "gene_name": "Tdp2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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Tyrosyl-DNA phosphodiesterase TDP1 is able to remove 3'-phosphoglycolate and plays an important role in non-homologous end joining (NHEJ) (Inamdar et al. 2002, Zhou et al. 2005, Zhou et al. 2009, Heo et al. 2015). 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