LOCUS       NM_016614               1935 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens tyrosyl-DNA phosphodiesterase 2 (TDP2), mRNA.
ACCESSION   NM_016614
VERSION     NM_016614.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1935)
  AUTHORS   Johnson,D., Allison,R.M., Cannavo,E., Cejka,P., Harper,J.A. and
            Neale,M.J.
  TITLE     Exploring the removal of Spo11 and topoisomerases from DNA breaks
            in S. cerevisiae by human Tyrosyl DNA Phosphodiesterase 2
  JOURNAL   DNA Repair (Amst) 142, 103757 (2024)
   PUBMED   39236418
  REMARK    GeneRIF: Exploring the removal of Spo11 and topoisomerases from DNA
            breaks in S. cerevisiae by human Tyrosyl DNA Phosphodiesterase 2.
REFERENCE   2  (bases 1 to 1935)
  AUTHORS   Zagnoli-Vieira,G., Brazina,J., Van Den Bogaert,K., Huybrechts,W.,
            Molenaers,G., Caldecott,K.W. and Van Esch,H.
  TITLE     Inactivating TDP2 missense mutation in siblings with congenital
            abnormalities reminiscent of fanconi anemia
  JOURNAL   Hum Genet 142 (9), 1417-1427 (2023)
   PUBMED   37558815
  REMARK    GeneRIF: Inactivating TDP2 missense mutation in siblings with
            congenital abnormalities reminiscent of fanconi anemia.
REFERENCE   3  (bases 1 to 1935)
  AUTHORS   Zoghi,S., Khamirani,H.J., Hassanipour,H., Bostanian,P.,
            Masoudian,R. and Dastgheib,S.A.
  TITLE     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
  JOURNAL   Eur J Med Genet 64 (12), 104348 (2021)
   PUBMED   34606976
  REMARK    GeneRIF: 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
REFERENCE   4  (bases 1 to 1935)
  AUTHORS   Saha,S., Sun,Y., Huang,S.N., Baechler,S.A., Pongor,L.S., Agama,K.,
            Jo,U., Zhang,H., Tse-Dinh,Y.C. and Pommier,Y.
  TITLE     DNA and RNA Cleavage Complexes and Repair Pathway for TOP3B RNA-
            and DNA-Protein Crosslinks
  JOURNAL   Cell Rep 33 (13), 108569 (2020)
   PUBMED   33378676
  REMARK    GeneRIF: DNA and RNA Cleavage Complexes and Repair Pathway for
            TOP3B RNA- and DNA-Protein Crosslinks.
REFERENCE   5  (bases 1 to 1935)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (bases 1 to 1935)
  AUTHORS   Pei,H., Yordy,J.S., Leng,Q., Zhao,Q., Watson,D.K. and Li,R.
  TITLE     EAPII interacts with ETS1 and modulates its transcriptional
            function
  JOURNAL   Oncogene 22 (18), 2699-2709 (2003)
   PUBMED   12743594
  REMARK    GeneRIF: interacts with ETS1 and modulates its transcriptional
            function
REFERENCE   7  (bases 1 to 1935)
  AUTHORS   Rodrigues-Lima,F., Josephs,M., Katan,M. and Cassinat,B.
  TITLE     Sequence analysis identifies TTRAP, a protein that associates with
            CD40 and TNF receptor-associated factors, as a member of a
            superfamily of divalent cation-dependent phosphodiesterases
  JOURNAL   Biochem Biophys Res Commun 285 (5), 1274-1279 (2001)
   PUBMED   11478795
REFERENCE   8  (bases 1 to 1935)
  AUTHORS   Hu,R.M., Han,Z.G., Song,H.D., Peng,Y.D., Huang,Q.H., Ren,S.X.,
            Gu,Y.J., Huang,C.H., Li,Y.B., Jiang,C.L., Fu,G., Zhang,Q.H.,
            Gu,B.W., Dai,M., Mao,Y.F., Gao,G.F., Rong,R., Ye,M., Zhou,J.,
            Xu,S.H., Gu,J., Shi,J.X., Jin,W.R., Zhang,C.K., Wu,T.M.,
            Huang,G.Y., Chen,Z., Chen,M.D. and Chen,J.L.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
REFERENCE   9  (bases 1 to 1935)
  AUTHORS   Pype,S., Declercq,W., Ibrahimi,A., Michiels,C., Van
            Rietschoten,J.G., Dewulf,N., de Boer,M., Vandenabeele,P.,
            Huylebroeck,D. and Remacle,J.E.
  TITLE     TTRAP, a novel protein that associates with CD40, tumor necrosis
            factor (TNF) receptor-75 and TNF receptor-associated factors
            (TRAFs), and that inhibits nuclear factor-kappa B activation
  JOURNAL   J Biol Chem 275 (24), 18586-18593 (2000)
   PUBMED   10764746
REFERENCE   10 (bases 1 to 1935)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL031775.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 26, 2018 this sequence version replaced NM_016614.2.
            
            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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.245659.1,
                                           SRR3476690.37100.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378198.9/ ENSP00000367440.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-202               AL031775.1         47131-47332
            203-288             AL031775.1         47419-47504
            289-462             AL031775.1         55296-55469
            463-554             AL031775.1         56127-56218
            555-673             AL031775.1         59500-59618
            674-844             AL031775.1         60877-61047
            845-1935            AL031775.1         62961-64051
FEATURES             Location/Qualifiers
     source          1..1935
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.3"
     gene            1..1935
                     /gene="TDP2"
                     /gene_synonym="AD022; dJ30M3.3; EAP2; EAPII; hTDP2; TTRAP"
                     /note="tyrosyl-DNA phosphodiesterase 2"
                     /db_xref="GeneID:51567"
                     /db_xref="HGNC:HGNC:17768"
                     /db_xref="MIM:605764"
     exon            1..202
                     /gene="TDP2"
                     /gene_synonym="AD022; dJ30M3.3; EAP2; EAPII; hTDP2; TTRAP"
                     /inference="alignment:Splign:2.1.0"
     CDS             38..1126
                     /gene="TDP2"
                     /gene_synonym="AD022; dJ30M3.3; EAP2; EAPII; hTDP2; TTRAP"
                     /EC_number="3.1.4.-"
                     /note="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"
                     /codon_start=1
                     /product="tyrosyl-DNA phosphodiesterase 2"
                     /protein_id="NP_057698.2"
                     /db_xref="CCDS:CCDS4557.1"
                     /db_xref="GeneID:51567"
                     /db_xref="HGNC:HGNC:17768"
                     /db_xref="MIM:605764"
                     /translation="MELGSCLEGGREAAEEEGEPEVKKRRLLCVEFASVASCDAAVAQ
                     CFLAENDWEMERALNSYFEPPVEESALERRPETISEPKTYVDLTNEETTDSTTSKISP
                     SEDTQQENGSMFSLITWNIDGLDLNNLSERARGVCSYLALYSPDVIFLQEVIPPYYSY
                     LKKRSSNYEIITGHEEGYFTAIMLKKSRVKLKSQEIIPFPSTKMMRNLLCVHVNVSGN
                     ELCLMTSHLESTRGHAAERMNQLKMVLKKMQEAPESATVIFAGDTNLRDREVTRCGGL
                     PNNIVDVWEFLGKPKHCQYTWDTQMNSNLGITAACKLRFDRIFFRAAAEEGHIIPRSL
                     DLLGLEKLDCGRFPSDHWGLLCNLDIIL"
     exon            203..288
                     /gene="TDP2"
                     /gene_synonym="AD022; dJ30M3.3; EAP2; EAPII; hTDP2; TTRAP"
                     /inference="alignment:Splign:2.1.0"
     exon            289..462
                     /gene="TDP2"
                     /gene_synonym="AD022; dJ30M3.3; EAP2; EAPII; hTDP2; TTRAP"
                     /inference="alignment:Splign:2.1.0"
     exon            463..554
                     /gene="TDP2"
                     /gene_synonym="AD022; dJ30M3.3; EAP2; EAPII; hTDP2; TTRAP"
                     /inference="alignment:Splign:2.1.0"
     exon            555..673
                     /gene="TDP2"
                     /gene_synonym="AD022; dJ30M3.3; EAP2; EAPII; hTDP2; TTRAP"
                     /inference="alignment:Splign:2.1.0"
     exon            674..844
                     /gene="TDP2"
                     /gene_synonym="AD022; dJ30M3.3; EAP2; EAPII; hTDP2; TTRAP"
                     /inference="alignment:Splign:2.1.0"
     exon            845..1935
                     /gene="TDP2"
                     /gene_synonym="AD022; dJ30M3.3; EAP2; EAPII; hTDP2; TTRAP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1916..1921
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TDP2"
                     /gene_synonym="AD022; dJ30M3.3; EAP2; EAPII; hTDP2; TTRAP"
                     /note="hexamer: AATAAA"
     polyA_site      1935
                     /gene="TDP2"
                     /gene_synonym="AD022; dJ30M3.3; EAP2; EAPII; hTDP2; TTRAP"
                     /note="major polyA site"
ORIGIN      
        1 gttccgctta aaggggcggt gcagaggcgg caggaagatg gagttgggga gttgcctgga
       61 gggcgggagg gaggcggcgg aggaagaggg cgagcctgag gtgaaaaagc ggcgacttct
      121 gtgtgtggag tttgcctcgg tcgcaagctg cgatgccgca gtggctcagt gcttcctggc
      181 cgagaacgac tgggagatgg aaagggctct gaactcctac ttcgagcctc cggtggagga
      241 gagcgccttg gaacgccgac ctgaaaccat ctctgagccc aagacctatg ttgacctaac
      301 caatgaagaa acaactgatt ccaccacttc taaaatcagc ccatctgaag atactcagca
      361 agaaaatggc agcatgttct ctctcattac ctggaatatt gatggattag atctaaacaa
      421 tctgtcagag agggctcgag gggtgtgttc ctacttagct ttgtacagcc cagatgtgat
      481 atttctacag gaagttattc ccccatatta tagctaccta aagaagagat caagtaatta
      541 tgagattatt acaggtcatg aagaaggata tttcacagct ataatgttga agaaatcaag
      601 agtgaaatta aaaagccaag agattattcc ttttccaagt accaaaatga tgagaaacct
      661 tttatgtgtg catgtgaacg tgtcaggaaa tgagctttgc cttatgacat cccatttgga
      721 gagcaccaga gggcatgctg cggaacgaat gaatcagtta aaaatggttt taaagaaaat
      781 gcaagaggct ccagagtcag ctacagttat atttgcagga gatacaaatc taagggatcg
      841 agaggttacc agatgtggtg gtttacccaa caacattgtg gatgtctggg agtttttggg
      901 caaacctaaa cattgccagt atacatggga tacacaaatg aactctaatc ttggaataac
      961 tgctgcttgt aaacttcgtt ttgatcgaat atttttcaga gcagcagcag aagagggaca
     1021 cattattccc cgaagtttgg accttcttgg attagaaaaa ctggactgtg gtagatttcc
     1081 tagtgatcac tggggtcttc tgtgcaactt agatataata ttgtaaaatg cttttcaagt
     1141 gtgggttttg ccctgattgt tgcaaataca atttccacct tctggaaagg taggtttgct
     1201 gtggaggaaa taatgtacta gatcattgtc acagaaaaac caactatgat ttatggttgt
     1261 gttttcagaa ttcaacatta aagattaatg tttatttaaa cgaacacatt cctgcattca
     1321 ggatgtgagg ccatttaata aaaagggcac aaagcctgtc agagttttca acggtgctta
     1381 tagctgccag ctggattcca aacaggtacc acattgtctc tgagctaatg tttatatttt
     1441 tccattcagg caccgaaata gttaatattt gaaataagtc ttcaaaagaa aacataagag
     1501 attattgagt tcttgggact ggatccttta tttcataagt tcagatcatc ttaaatgaaa
     1561 atgccatgat tatctgcagt taagtagatg acagctattc tacatcagac ttgatttttg
     1621 tcagctaatt acataattgg taagctataa ttgaaacctt atggcttaaa attccttaac
     1681 tcctttttga ttcatgtttg tagtcatgtt gtcaacagag gcaaagttaa gcttgatgat
     1741 ggttaaaatc ggtttgatag caccatggga catttttcta acaaaaataa atgcatgaag
     1801 agacatagcc ttttagtttt gctaattgtg aaatggaaat gctttacagg aagtaaatgc
     1861 aaattacttt taagtgtgct ttaaagaaaa atattttccc cacaagagaa atttaaataa
     1921 agaattttat ttgtt
//
