LOCUS       NM_001276345            1165 bp    mRNA    linear   PRI 12-DEC-2024
DEFINITION  Homo sapiens troponin T2, cardiac type (TNNT2), transcript variant
            5, mRNA.
ACCESSION   NM_001276345
VERSION     NM_001276345.2
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 1165)
  AUTHORS   Landim-Vieira,M., Ma,W., Song,T., Rastegarpouyani,H., Gong,H.,
            Coscarella,I.L., Bogaards,S.J.P., Conijn,S.P., Ottenheijm,C.A.C.,
            Hwang,H.S., Papadaki,M., Knollmann,B.C., Sadayappan,S.,
            Irving,T.C., Galkin,V.E., Chase,P.B. and Pinto,J.R.
  TITLE     Cardiac troponin T N-domain variant destabilizes the actin
            interface resulting in disturbed myofilament function
  JOURNAL   Proc Natl Acad Sci U S A 120 (23), e2221244120 (2023)
   PUBMED   37252999
  REMARK    GeneRIF: Cardiac troponin T N-domain variant destabilizes the actin
            interface resulting in disturbed myofilament function.
REFERENCE   2  (bases 1 to 1165)
  AUTHORS   Tsaturyan,A.K., Zaklyazminskaya,E.V., Polyak,M.E., Kopylova,G.V.,
            Shchepkin,D.V., Kochurova,A.M., Gonchar,A.D., Kleymenov,S.Y.,
            Koubasova,N.A., Bershitsky,S.Y., Matyushenko,A.M. and Levitsky,D.I.
  TITLE     De Novo Asp219Val Mutation in Cardiac Tropomyosin Associated with
            Hypertrophic Cardiomyopathy
  JOURNAL   Int J Mol Sci 24 (1), 18 (2022)
   PUBMED   36613463
  REMARK    GeneRIF: De Novo Asp219Val Mutation in Cardiac Tropomyosin
            Associated with Hypertrophic Cardiomyopathy.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1165)
  AUTHORS   Moridi,M., Magnusson,C. and Zilg,B.
  TITLE     Cardiac troponin T as a postmortem biomarker for acute myocardial
            infarction
  JOURNAL   Forensic Sci Int 341, 111506 (2022)
   PUBMED   36368163
  REMARK    GeneRIF: Cardiac troponin T as a postmortem biomarker for acute
            myocardial infarction.
REFERENCE   4  (bases 1 to 1165)
  AUTHORS   Eggers,K.M., Hammarsten,O., Aldous,S.J., Cullen,L.,
            Greenslade,J.H., Lindahl,B., Parsonage,W.A., Pemberton,C.J.,
            Pickering,J.W., Richards,A.M., Troughton,R.W. and Than,M.P.
  TITLE     Diagnostic and prognostic performance of the ratio between
            high-sensitivity cardiac troponin I and troponin T in patients with
            chest pain
  JOURNAL   PLoS One 17 (11), e0276645 (2022)
   PUBMED   36318533
  REMARK    GeneRIF: Diagnostic and prognostic performance of the ratio between
            high-sensitivity cardiac troponin I and troponin T in patients with
            chest pain.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1165)
  AUTHORS   Cirino,A.L. and Ho,C.
  TITLE     Hypertrophic Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301725
REFERENCE   6  (bases 1 to 1165)
  AUTHORS   Hershberger,R.E. and Jordan,E.
  TITLE     Dilated Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301486
REFERENCE   7  (bases 1 to 1165)
  AUTHORS   Noland,T.A. Jr., Raynor,R.L. and Kuo,J.F.
  TITLE     Identification of sites phosphorylated in bovine cardiac troponin I
            and troponin T by protein kinase C and comparative substrate
            activity of synthetic peptides containing the phosphorylation sites
  JOURNAL   J Biol Chem 264 (34), 20778-20785 (1989)
   PUBMED   2584239
REFERENCE   8  (bases 1 to 1165)
  AUTHORS   Solaro,R.J., el-Saleh,S.C. and Kentish,J.C.
  TITLE     Ca2+, pH and the regulation of cardiac myofilament force and ATPase
            activity
  JOURNAL   Mol Cell Biochem 89 (2), 163-167 (1989)
   PUBMED   2530435
REFERENCE   9  (bases 1 to 1165)
  AUTHORS   Breitbart,R.E. and Nadal-Ginard,B.
  TITLE     Developmentally induced, muscle-specific trans factors control the
            differential splicing of alternative and constitutive troponin T
            exons
  JOURNAL   Cell 49 (6), 793-803 (1987)
   PUBMED   3581171
REFERENCE   10 (bases 1 to 1165)
  AUTHORS   Medford,R.M., Nguyen,H.T., Destree,A.T., Summers,E. and
            Nadal-Ginard,B.
  TITLE     A novel mechanism of alternative RNA splicing for the
            developmentally regulated generation of troponin T isoforms from a
            single gene
  JOURNAL   Cell 38 (2), 409-421 (1984)
   PUBMED   6205765
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AJ709280.1, X79855.1,
            BC002653.2, L40162.1 and AA865519.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001276345.1.
            
            Summary: This gene encodes the cardiac isoform of troponin T. The
            encoded protein is the tropomyosin-binding subunit of the troponin
            complex, which is located on the thin filament of striated muscles
            and regulates muscle contraction in response to alterations in
            intracellular calcium ion concentration. Mutations in this gene
            have been associated with familial hypertrophic cardiomyopathy as
            well as with dilated cardiomyopathy. [provided by RefSeq, May
            2022].
            
            Transcript Variant: This variant (5) encodes the longest isoform
            (5).
            
            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 :: SRR1803614.321359.1,
                                           SRR7410570.114632.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000656932.1/ ENSP00000499593.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-72                AJ709280.1         41-112
            73-397              X79855.1           1-325
            398-420             BC002653.2         354-376
            421-1153            L40162.1           372-1104
            1154-1165           AA865519.1         49-60               c
FEATURES             Location/Qualifiers
     source          1..1165
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     gene            1..1165
                     /gene="TNNT2"
                     /gene_synonym="CMD1D; CMH2; CMPD2; cTnT; LVNC6; RCM3;
                     TnTC"
                     /note="troponin T2, cardiac type"
                     /db_xref="GeneID:7139"
                     /db_xref="HGNC:HGNC:11949"
                     /db_xref="MIM:191045"
     exon            1..58
                     /gene="TNNT2"
                     /gene_synonym="CMD1D; CMH2; CMPD2; cTnT; LVNC6; RCM3;
                     TnTC"
                     /inference="alignment:Splign:2.1.0"
     exon            59..113
                     /gene="TNNT2"
                     /gene_synonym="CMD1D; CMH2; CMPD2; cTnT; LVNC6; RCM3;
                     TnTC"
                     /inference="alignment:Splign:2.1.0"
     CDS             73..969
                     /gene="TNNT2"
                     /gene_synonym="CMD1D; CMH2; CMPD2; cTnT; LVNC6; RCM3;
                     TnTC"
                     /note="isoform 5 is encoded by transcript variant 5;
                     cardiomyopathy, dilated 1D (autosomal dominant);
                     cardiomyopathy, hypertrophic 2; troponin T, cardiac
                     muscle; troponin T type 2 (cardiac)"
                     /codon_start=1
                     /product="troponin T, cardiac muscle isoform 5"
                     /protein_id="NP_001263274.1"
                     /db_xref="CCDS:CCDS73003.1"
                     /db_xref="GeneID:7139"
                     /db_xref="HGNC:HGNC:11949"
                     /db_xref="MIM:191045"
                     /translation="MSDIEEVVEEYEEEEQEEAAVEEEEDWREDEDEQEEAAEEDAEA
                     EAETEETRAEEDEEEEEAKEAEDGPMEESKPKPRSFMPNLVPPKIPDGERVDFDDIHR
                     KRMEKDLNELQALIEAHFENRKKEEEELVSLKDRIERRRAERAEQQRIRNEREKERQN
                     RLAEERARREEEENRRKAEDEARKKKALSNMMHFGGYIQKQAQTERKSGKRQTEREKK
                     KKILAERRKVLAIDHLNEDQLREKAKELWQSIYNLEAEKFDLQEKFKQQKYEINVLRN
                     RINDNQKVSKTRGKAKVTGRWK"
     exon            114..124
                     /gene="TNNT2"
                     /gene_synonym="CMD1D; CMH2; CMPD2; cTnT; LVNC6; RCM3;
                     TnTC"
                     /inference="alignment:Splign:2.1.0"
     exon            125..139
                     /gene="TNNT2"
                     /gene_synonym="CMD1D; CMH2; CMPD2; cTnT; LVNC6; RCM3;
                     TnTC"
                     /inference="alignment:Splign:2.1.0"
     exon            140..169
                     /gene="TNNT2"
                     /gene_synonym="CMD1D; CMH2; CMPD2; cTnT; LVNC6; RCM3;
                     TnTC"
                     /inference="alignment:Splign:2.1.0"
     exon            170..235
                     /gene="TNNT2"
                     /gene_synonym="CMD1D; CMH2; CMPD2; cTnT; LVNC6; RCM3;
                     TnTC"
                     /inference="alignment:Splign:2.1.0"
     exon            236..271
                     /gene="TNNT2"
                     /gene_synonym="CMD1D; CMH2; CMPD2; cTnT; LVNC6; RCM3;
                     TnTC"
                     /inference="alignment:Splign:2.1.0"
     exon            272..305
                     /gene="TNNT2"
                     /gene_synonym="CMD1D; CMH2; CMPD2; cTnT; LVNC6; RCM3;
                     TnTC"
                     /inference="alignment:Splign:2.1.0"
     exon            306..366
                     /gene="TNNT2"
                     /gene_synonym="CMD1D; CMH2; CMPD2; cTnT; LVNC6; RCM3;
                     TnTC"
                     /inference="alignment:Splign:2.1.0"
     exon            367..483
                     /gene="TNNT2"
                     /gene_synonym="CMD1D; CMH2; CMPD2; cTnT; LVNC6; RCM3;
                     TnTC"
                     /inference="alignment:Splign:2.1.0"
     exon            484..561
                     /gene="TNNT2"
                     /gene_synonym="CMD1D; CMH2; CMPD2; cTnT; LVNC6; RCM3;
                     TnTC"
                     /inference="alignment:Splign:2.1.0"
     exon            562..672
                     /gene="TNNT2"
                     /gene_synonym="CMD1D; CMH2; CMPD2; cTnT; LVNC6; RCM3;
                     TnTC"
                     /inference="alignment:Splign:2.1.0"
     exon            673..681
                     /gene="TNNT2"
                     /gene_synonym="CMD1D; CMH2; CMPD2; cTnT; LVNC6; RCM3;
                     TnTC"
                     /inference="alignment:Splign:2.1.0"
     exon            682..791
                     /gene="TNNT2"
                     /gene_synonym="CMD1D; CMH2; CMPD2; cTnT; LVNC6; RCM3;
                     TnTC"
                     /inference="alignment:Splign:2.1.0"
     exon            792..882
                     /gene="TNNT2"
                     /gene_synonym="CMD1D; CMH2; CMPD2; cTnT; LVNC6; RCM3;
                     TnTC"
                     /inference="alignment:Splign:2.1.0"
     exon            883..923
                     /gene="TNNT2"
                     /gene_synonym="CMD1D; CMH2; CMPD2; cTnT; LVNC6; RCM3;
                     TnTC"
                     /inference="alignment:Splign:2.1.0"
     exon            924..1165
                     /gene="TNNT2"
                     /gene_synonym="CMD1D; CMH2; CMPD2; cTnT; LVNC6; RCM3;
                     TnTC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1143..1148
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TNNT2"
                     /gene_synonym="CMD1D; CMH2; CMPD2; cTnT; LVNC6; RCM3;
                     TnTC"
                     /note="hexamer: AATAAA"
     polyA_site      1165
                     /gene="TNNT2"
                     /gene_synonym="CMD1D; CMH2; CMPD2; cTnT; LVNC6; RCM3;
                     TnTC"
                     /note="major polyA site"
ORIGIN      
        1 agtccccgct gagactgagc agacgcctcc aggatctgtc ggcagctgct gttctgaggg
       61 agagcagaga ccatgtctga catagaagag gtggtggaag agtacgagga ggaggagcag
      121 gaagaagcag ctgttgaaga agaggaggac tggagagagg acgaagacga gcaggaggag
      181 gcagcggaag aggatgctga agcagaggct gagaccgagg agaccagggc agaagaagat
      241 gaagaagaag aggaagcaaa ggaggctgaa gatggcccaa tggaggagtc caaaccaaag
      301 cccaggtcgt tcatgcccaa cttggtgcct cccaagatcc ccgatggaga gagagtggac
      361 tttgatgaca tccaccggaa gcgcatggag aaggacctga atgagttgca ggcgctgatc
      421 gaggctcact ttgagaacag gaagaaagag gaggaggagc tcgtttctct caaagacagg
      481 atcgagagac gtcgggcaga gcgggccgag cagcagcgca tccggaatga gcgggagaag
      541 gagcggcaga accgcctggc tgaagagagg gctcgacgag aggaggagga gaacaggagg
      601 aaggctgagg atgaggcccg gaagaagaag gctttgtcca acatgatgca ttttgggggt
      661 tacatccaga agcaggccca gacagagcgg aaaagtggga agaggcagac tgagcgggaa
      721 aagaagaaga agattctggc tgagaggagg aaggtgctgg ccattgacca cctgaatgaa
      781 gatcagctga gggagaaggc caaggagctg tggcagagca tctataactt ggaggcagag
      841 aagttcgacc tgcaggagaa gttcaagcag cagaaatatg agatcaatgt tctccgaaac
      901 aggatcaacg ataaccagaa agtctccaag acccgcggga aggctaaagt caccgggcgc
      961 tggaaataga gcctggcctc cttcaccaaa gatctgctcc tcgctcgcac ctgcctccgg
     1021 cctgcactcc cccagttccc gggccctcct gggcacccca ggcagctcct gtttggaaat
     1081 ggggagctgg cctaggtggg agccaccact cctgcctgcc cccacaccca ctccacacca
     1141 gtaataaaaa gccaccacac actga
//
