LOCUS       NM_003279                681 bp    mRNA    linear   PRI 18-JUL-2024
DEFINITION  Homo sapiens troponin C2, fast skeletal type (TNNC2), mRNA.
ACCESSION   NM_003279
VERSION     NM_003279.3
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 681)
  AUTHORS   van de Locht,M., Donkervoort,S., de Winter,J.M., Conijn,S.,
            Begthel,L., Kusters,B., Mohassel,P., Hu,Y., Medne,L., Quinn,C.,
            Moore,S.A., Foley,A.R., Seo,G., Hwee,D.T., Malik,F.I., Irving,T.,
            Ma,W., Granzier,H.L., Kamsteeg,E.J., Immadisetty,K.,
            Kekenes-Huskey,P., Pinto,J.R., Voermans,N., Bonnemann,C.G. and
            Ottenheijm,C.A.
  TITLE     Pathogenic variants in TNNC2 cause congenital myopathy due to an
            impaired force response to calcium
  JOURNAL   J Clin Invest 131 (9) (2021)
   PUBMED   33755597
  REMARK    GeneRIF: Pathogenic variants in TNNC2 cause congenital myopathy due
            to an impaired force response to calcium.
REFERENCE   2  (bases 1 to 681)
  AUTHORS   Yu,C., Zhan,X., Liu,C., Zhang,Z., Jiang,J., Xu,G. and Xue,J.
  TITLE     A Mechanism Underlying Sex-Associated Differences in Ankylosing
            Spondylitis: Troponin C2, Fast Skeletal Type (TNNC2) and Calcium
            Signaling Pathway
  JOURNAL   Med Sci Monit 26, e925179 (2020)
   PUBMED   33052895
  REMARK    GeneRIF: A Mechanism Underlying Sex-Associated Differences in
            Ankylosing Spondylitis: Troponin C2, Fast Skeletal Type (TNNC2) and
            Calcium Signaling Pathway.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 681)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 681)
  AUTHORS   Jin,Y. and Yang,Y.
  TITLE     Bioinformatics-based discovery of PYGM and TNNC2 as potential
            biomarkers of head and neck squamous cell carcinoma
  JOURNAL   Biosci Rep 39 (7) (2019)
   PUBMED   31324732
  REMARK    GeneRIF: Bioinformatics-based discovery of PYGM and TNNC2 as
            potential biomarkers of head and neck squamous cell carcinoma.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 681)
  AUTHORS   Sahni,N., Yi,S., Taipale,M., Fuxman Bass,J.I.,
            Coulombe-Huntington,J., Yang,F., Peng,J., Weile,J., Karras,G.I.,
            Wang,Y., Kovacs,I.A., Kamburov,A., Krykbaeva,I., Lam,M.H.,
            Tucker,G., Khurana,V., Sharma,A., Liu,Y.Y., Yachie,N., Zhong,Q.,
            Shen,Y., Palagi,A., San-Miguel,A., Fan,C., Balcha,D., Dricot,A.,
            Jordan,D.M., Walsh,J.M., Shah,A.A., Yang,X., Stoyanova,A.K.,
            Leighton,A., Calderwood,M.A., Jacob,Y., Cusick,M.E.,
            Salehi-Ashtiani,K., Whitesell,L.J., Sunyaev,S., Berger,B.,
            Barabasi,A.L., Charloteaux,B., Hill,D.E., Hao,T., Roth,F.P.,
            Xia,Y., Walhout,A.J.M., Lindquist,S. and Vidal,M.
  TITLE     Widespread macromolecular interaction perturbations in human
            genetic disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   6  (bases 1 to 681)
  AUTHORS   Tiso,N., Rampoldi,L., Pallavicini,A., Zimbello,R., Pandolfo,D.,
            Valle,G., Lanfranchi,G. and Danieli,G.A.
  TITLE     Fine mapping of five human skeletal muscle genes:
            alpha-tropomyosin, beta-tropomyosin, troponin-I slow-twitch,
            troponin-I fast-twitch, and troponin-C fast
  JOURNAL   Biochem Biophys Res Commun 230 (2), 347-350 (1997)
   PUBMED   9016781
REFERENCE   7  (bases 1 to 681)
  AUTHORS   Prentice,H., Kloner,R.A., Prigozy,T., Christensen,T., Newman,L.,
            Li,Y. and Kedes,L.
  TITLE     Tissue restricted gene expression assayed by direct DNA injection
            into cardiac and skeletal muscle
  JOURNAL   J Mol Cell Cardiol 26 (10), 1393-1401 (1994)
   PUBMED   7869399
REFERENCE   8  (bases 1 to 681)
  AUTHORS   Gahlmann,R. and Kedes,L.
  TITLE     Cloning, structural analysis, and expression of the human fast
            twitch skeletal muscle troponin C gene
  JOURNAL   J Biol Chem 265 (21), 12520-12528 (1990)
   PUBMED   2373703
REFERENCE   9  (bases 1 to 681)
  AUTHORS   Gahlmann,R., Wade,R., Gunning,P. and Kedes,L.
  TITLE     Differential expression of slow and fast skeletal muscle troponin
            C. Slow skeletal muscle troponin C is expressed in human
            fibroblasts
  JOURNAL   J Mol Biol 201 (2), 379-391 (1988)
   PUBMED   3166492
REFERENCE   10 (bases 1 to 681)
  AUTHORS   Romero-Herrera,A.E., Castillo,O. and Lehmann,H.
  TITLE     Human skeletal muscle proteins. The primary structure of troponin C
  JOURNAL   J Mol Evol 8 (3), 251-270 (1976)
   PUBMED   978749
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BU854061.1 and AI080746.1.
            
            On Nov 23, 2018 this sequence version replaced NM_003279.2.
            
            Summary: Troponin (Tn), a key protein complex in the regulation of
            striated muscle contraction, is composed of 3 subunits. The Tn-I
            subunit inhibits actomyosin ATPase, the Tn-T subunit binds
            tropomyosin and Tn-C, while the Tn-C subunit binds calcium and
            overcomes the inhibitory action of the troponin complex on actin
            filaments. The protein encoded by this gene is the Tn-C subunit.
            [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 :: BC005323.1, SRR5189667.314405.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162946, SAMN03465413
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372555.8/ ENSP00000361636.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-417               BU854061.1         34-450
            418-681             AI080746.1         13-276              c
FEATURES             Location/Qualifiers
     source          1..681
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.12"
     gene            1..681
                     /gene="TNNC2"
                     /gene_synonym="CFAP85; CMYO15; CMYP15; FAP85; MYONRI"
                     /note="troponin C2, fast skeletal type"
                     /db_xref="GeneID:7125"
                     /db_xref="HGNC:HGNC:11944"
                     /db_xref="MIM:191039"
     exon            1..67
                     /gene="TNNC2"
                     /gene_synonym="CFAP85; CMYO15; CMYP15; FAP85; MYONRI"
                     /inference="alignment:Splign:2.1.0"
     CDS             65..547
                     /gene="TNNC2"
                     /gene_synonym="CFAP85; CMYO15; CMYP15; FAP85; MYONRI"
                     /note="troponin C type 2 (fast)"
                     /codon_start=1
                     /product="troponin C, skeletal muscle"
                     /protein_id="NP_003270.1"
                     /db_xref="CCDS:CCDS13375.1"
                     /db_xref="GeneID:7125"
                     /db_xref="HGNC:HGNC:11944"
                     /db_xref="MIM:191039"
                     /translation="MTDQQAEARSYLSEEMIAEFKAAFDMFDADGGGDISVKELGTVM
                     RMLGQTPTKEELDAIIEEVDEDGSGTIDFEEFLVMMVRQMKEDAKGKSEEELAECFRI
                     FDRNADGYIDPEELAEIFRASGEHVTDEEIESLMKDGDKNNDGRIDFDEFLKMMEGVQ
                     "
     exon            68..119
                     /gene="TNNC2"
                     /gene_synonym="CFAP85; CMYO15; CMYP15; FAP85; MYONRI"
                     /inference="alignment:Splign:2.1.0"
     exon            120..263
                     /gene="TNNC2"
                     /gene_synonym="CFAP85; CMYO15; CMYP15; FAP85; MYONRI"
                     /inference="alignment:Splign:2.1.0"
     exon            264..378
                     /gene="TNNC2"
                     /gene_synonym="CFAP85; CMYO15; CMYP15; FAP85; MYONRI"
                     /inference="alignment:Splign:2.1.0"
     exon            379..515
                     /gene="TNNC2"
                     /gene_synonym="CFAP85; CMYO15; CMYP15; FAP85; MYONRI"
                     /inference="alignment:Splign:2.1.0"
     exon            516..681
                     /gene="TNNC2"
                     /gene_synonym="CFAP85; CMYO15; CMYP15; FAP85; MYONRI"
                     /inference="alignment:Splign:2.1.0"
     regulatory      660..665
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TNNC2"
                     /gene_synonym="CFAP85; CMYO15; CMYP15; FAP85; MYONRI"
                     /note="hexamer: AATAAA"
     polyA_site      681
                     /gene="TNNC2"
                     /gene_synonym="CFAP85; CMYO15; CMYP15; FAP85; MYONRI"
                     /note="major polyA site"
ORIGIN      
        1 atctttgggt ggtggagtgc aaaggaggcg acctgcaaca gaggagtccc ggtcaccagc
       61 aaccatgacg gaccagcagg ctgaggccag gtcctacctc agcgaagaga tgatcgctga
      121 gttcaaggct gcctttgaca tgtttgatgc tgatggtggt ggggacatca gcgtcaagga
      181 gttgggcacg gtgatgagga tgctgggcca gacacccacc aaggaggagc tggacgccat
      241 catcgaggag gtggatgagg acggcagcgg caccatcgac ttcgaggagt tcttggtcat
      301 gatggtgcgc cagatgaaag aggacgcgaa agggaagagc gaggaggagc tggccgagtg
      361 cttccgcatc ttcgacagga atgcagacgg ctacatcgac ccggaggagc tggctgagat
      421 tttcagggcc tccggggagc acgtgacgga cgaggagatc gaatctctga tgaaagacgg
      481 cgacaagaac aacgacggcc gcattgactt cgacgagttc ctgaagatga tggagggcgt
      541 gcagtaagga gtggacagtc gcctctacca agatcgcgtg tccctagggt gtgggagact
      601 ccgccctgcc gggtccccac cagggaggcg cgaccccttg tgggtctttg tctggaagga
      661 ataaaagcaa atgttccaaa a
//
