LOCUS       NM_003282                751 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens troponin I2, fast skeletal type (TNNI2), transcript
            variant 1, mRNA.
ACCESSION   NM_003282
VERSION     NM_003282.4
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 751)
  AUTHORS   Seyama,R., Uchiyama,Y., Kaneshi,Y., Hamanaka,K., Fujita,A.,
            Tsuchida,N., Koshimizu,E., Misawa,K., Miyatake,S., Mizuguchi,T.,
            Makino,S., Itakura,A., Okamoto,N. and Matsumoto,N.
  TITLE     Distal arthrogryposis in a girl arising from a novel TNNI2 variant
            inherited from paternal somatic mosaicism
  JOURNAL   J Hum Genet 68 (5), 363-367 (2023)
   PUBMED   36631501
  REMARK    GeneRIF: Distal arthrogryposis in a girl arising from a novel TNNI2
            variant inherited from paternal somatic mosaicism.
REFERENCE   2  (bases 1 to 751)
  AUTHORS   Li,Y., Nong,T., Li,Y., Li,X., Li,Z., Lv,H., Xu,H., Li,J. and Zhu,M.
  TITLE     A TNNI2 variant c.525G>T causes distal arthrogryposis in a Chinese
            family
  JOURNAL   Mol Genet Genomic Med 10 (12), e2042 (2022)
   PUBMED   36069346
  REMARK    GeneRIF: A TNNI2 variant c.525G>T causes distal arthrogryposis in a
            Chinese family.
REFERENCE   3  (bases 1 to 751)
  AUTHORS   Barthel,B.L., Cox,D., Barbieri,M., Ziemba,M., Straub,V.,
            Hoffman,E.P. and Russell,A.J.
  TITLE     Elevation of fast but not slow troponin I in the circulation of
            patients with Becker and Duchenne muscular dystrophy
  JOURNAL   Muscle Nerve 64 (1), 43-49 (2021)
   PUBMED   33683712
  REMARK    GeneRIF: Elevation of fast but not slow troponin I in the
            circulation of patients with Becker and Duchenne muscular
            dystrophy.
REFERENCE   4  (bases 1 to 751)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 751)
  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   6  (bases 1 to 751)
  AUTHORS   Jha,P.K., Leavis,P.C. and Sarkar,S.
  TITLE     Interaction of deletion mutants of troponins I and T: COOH-terminal
            truncation of troponin T abolishes troponin I binding and reduces
            Ca2+ sensitivity of the reconstituted regulatory system
  JOURNAL   Biochemistry 35 (51), 16573-16580 (1996)
   PUBMED   8987992
REFERENCE   7  (bases 1 to 751)
  AUTHORS   Lanfranchi,G., Muraro,T., Caldara,F., Pacchioni,B., Pallavicini,A.,
            Pandolfo,D., Toppo,S., Trevisan,S., Scarso,S. and Valle,G.
  TITLE     Identification of 4370 expressed sequence tags from a
            3'-end-specific cDNA library of human skeletal muscle by DNA
            sequencing and filter hybridization
  JOURNAL   Genome Res 6 (1), 35-42 (1996)
   PUBMED   8681137
REFERENCE   8  (bases 1 to 751)
  AUTHORS   Zhu,L., Perez-Alvarado,G. and Wade,R.
  TITLE     Sequencing of a cDNA encoding the human fast-twitch skeletal muscle
            isoform of troponin I
  JOURNAL   Biochim Biophys Acta 1217 (3), 338-340 (1994)
   PUBMED   8148383
REFERENCE   9  (bases 1 to 751)
  AUTHORS   Wade,R., Eddy,R., Shows,T.B. and Kedes,L.
  TITLE     cDNA sequence, tissue-specific expression, and chromosomal mapping
            of the human slow-twitch skeletal muscle isoform of troponin I
  JOURNAL   Genomics 7 (3), 346-357 (1990)
   PUBMED   2365354
REFERENCE   10 (bases 1 to 751)
  AUTHORS   Moir,A.J., Ordidge,M., Grand,R.J., Trayer,I.P. and Perry,S.V.
  TITLE     Studies of the interaction of troponin I with proteins of the
            I-filament and calmodulin
  JOURNAL   Biochem J 209 (2), 417-426 (1983)
   PUBMED   6847627
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC051649.21, BP233165.1,
            L21715.1, AW984315.1 and F36243.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_003282.3.
            
            Summary: This gene encodes a fast-twitch skeletal muscle protein, a
            member of the troponin I gene family, and a component of the
            troponin complex including troponin T, troponin C and troponin I
            subunits. The troponin complex, along with tropomyosin, is
            responsible for the calcium-dependent regulation of striated muscle
            contraction. Mouse studies show that this component is also present
            in vascular smooth muscle and may play a role in regulation of
            smooth muscle function. In addition to muscle tissues, this protein
            is found in corneal epithelium, cartilage where it is an inhibitor
            of angiogenesis to inhibit tumor growth and metastasis, and mammary
            gland where it functions as a co-activator of estrogen
            receptor-related receptor alpha. This protein also suppresses tumor
            growth in human ovarian carcinoma. Mutations in this gene cause
            myopathy and distal arthrogryposis type 2B. Alternatively spliced
            transcript variants have been found for this gene. [provided by
            RefSeq, Mar 2009].
            
            Transcript Variant: This variant (1) and variant 2 encode the same
            protein (isoform 1).
            
            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 :: CF552540.1, BQ926240.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000381911.6/ ENSP00000371336.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                AC051649.21        159015-159036       c
            23-49               BP233165.1         23-49
            50-134              L21715.1           1-85
            135-512             AW984315.1         56-433
            513-750             L21715.1           464-701
            751-751             F36243.1           352-352
FEATURES             Location/Qualifiers
     source          1..751
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..751
                     /gene="TNNI2"
                     /gene_synonym="AMCD2B; DA2B; DA2B1; FSSV; fsTnI"
                     /note="troponin I2, fast skeletal type"
                     /db_xref="GeneID:7136"
                     /db_xref="HGNC:HGNC:11946"
                     /db_xref="MIM:191043"
     exon            1..53
                     /gene="TNNI2"
                     /gene_synonym="AMCD2B; DA2B; DA2B1; FSSV; fsTnI"
                     /inference="alignment:Splign:2.1.0"
     exon            54..83
                     /gene="TNNI2"
                     /gene_synonym="AMCD2B; DA2B; DA2B1; FSSV; fsTnI"
                     /inference="alignment:Splign:2.1.0"
     CDS             76..624
                     /gene="TNNI2"
                     /gene_synonym="AMCD2B; DA2B; DA2B1; FSSV; fsTnI"
                     /note="isoform 1 is encoded by transcript variant 1;
                     troponin I, skeletal, fast; troponin I type 2 (skeletal,
                     fast); troponin I fast twitch 2"
                     /codon_start=1
                     /product="troponin I, fast skeletal muscle isoform 1"
                     /protein_id="NP_003273.1"
                     /db_xref="CCDS:CCDS31333.1"
                     /db_xref="GeneID:7136"
                     /db_xref="HGNC:HGNC:11946"
                     /db_xref="MIM:191043"
                     /translation="MGDEEKRNRAITARRQHLKSVMLQIAATELEKEESRREAEKQNY
                     LAEHCPPLHIPGSMSEVQELCKQLHAKIDAAEEEKYDMEVRVQKTSKELEDMNQKLFD
                     LRGKFKRPPLRRVRMSADAMLKALLGSKHKVCMDLRANLKQVKKEDTEKERDLRDVGD
                     WRKNIEEKSGMEGRKKMFESES"
     exon            84..90
                     /gene="TNNI2"
                     /gene_synonym="AMCD2B; DA2B; DA2B1; FSSV; fsTnI"
                     /inference="alignment:Splign:2.1.0"
     exon            91..132
                     /gene="TNNI2"
                     /gene_synonym="AMCD2B; DA2B; DA2B1; FSSV; fsTnI"
                     /inference="alignment:Splign:2.1.0"
     exon            133..261
                     /gene="TNNI2"
                     /gene_synonym="AMCD2B; DA2B; DA2B1; FSSV; fsTnI"
                     /inference="alignment:Splign:2.1.0"
     exon            262..351
                     /gene="TNNI2"
                     /gene_synonym="AMCD2B; DA2B; DA2B1; FSSV; fsTnI"
                     /inference="alignment:Splign:2.1.0"
     exon            352..528
                     /gene="TNNI2"
                     /gene_synonym="AMCD2B; DA2B; DA2B1; FSSV; fsTnI"
                     /inference="alignment:Splign:2.1.0"
     exon            529..751
                     /gene="TNNI2"
                     /gene_synonym="AMCD2B; DA2B; DA2B1; FSSV; fsTnI"
                     /inference="alignment:Splign:2.1.0"
     regulatory      731..736
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TNNI2"
                     /gene_synonym="AMCD2B; DA2B; DA2B1; FSSV; fsTnI"
                     /note="hexamer: AATAAA"
     polyA_site      751
                     /gene="TNNI2"
                     /gene_synonym="AMCD2B; DA2B; DA2B1; FSSV; fsTnI"
                     /note="major polyA site"
ORIGIN      
        1 aactcgccgc tgccggcctg acctcgctcc cagccctgct gcccagattc taggctccaa
       61 gctcaggacc tcaggatggg agatgaggag aagcggaaca gggccatcac ggcccgcagg
      121 cagcacctga agagtgtgat gctgcagata gcggccacgg agctggagaa ggaggagagc
      181 cgccgtgagg cagagaagca gaactacctg gcggagcact gcccgccgct gcatatcccg
      241 ggctccatgt ctgaagtgca ggagctctgc aaacagctgc acgccaagat cgatgcggct
      301 gaagaggaga agtacgacat ggaggtgagg gtgcagaaga ccagcaagga gctggaggac
      361 atgaaccaga agctatttga tctgcggggc aagttcaagc ggcccccact gcggagggtg
      421 cgcatgtcgg ccgatgccat gctcaaggcc ctgctgggct cgaagcacaa ggtgtgcatg
      481 gacctgaggg ccaacctgaa gcaggtcaag aaggaggaca cagagaagga gcgggacctg
      541 cgagacgtgg gtgactggag gaagaacatc gaggagaagt ctggcatgga gggccggaag
      601 aagatgtttg agtccgagtc ctaggccact cgctgcccct acgcctgccc cggtgcccgg
      661 ctcccagcag aacatactag ggagatgcac ccagagcctg ccagggaggg ctggcctcac
      721 caccaccgtc aataaaggat ttgaatcccc a
//
