LOCUS       NM_003289               1190 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens tropomyosin 2 (TPM2), transcript variant Tpm2.2, mRNA.
ACCESSION   NM_003289
VERSION     NM_003289.4
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 1190)
  AUTHORS   Wallgren-Pettersson,C., Jokela,M., Lehtokari,V.L., Tyynismaa,H.,
            Sainio,M.T., Ylikallio,E., Tynninen,O., Pelin,K. and Auranen,M.
  TITLE     Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia
  JOURNAL   Neuromuscul Disord 35, 29-32 (2024)
   PUBMED   38219297
  REMARK    GeneRIF: Variants in tropomyosins TPM2 and TPM3 causing muscle
            hypertonia.
REFERENCE   2  (bases 1 to 1190)
  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   3  (bases 1 to 1190)
  AUTHORS   Sliwinska,M., Robaszkiewicz,K., Wasag,P. and Moraczewska,J.
  TITLE     Mutations Q93H and E97K in TPM2 Disrupt Ca-Dependent Regulation of
            Actin Filaments
  JOURNAL   Int J Mol Sci 22 (8), 4036 (2021)
   PUBMED   33919826
  REMARK    GeneRIF: Mutations Q93H and E97K in TPM2 Disrupt Ca-Dependent
            Regulation of Actin Filaments.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1190)
  AUTHORS   Karpicheva,O.E., Simonyan,A.O., Rysev,N.A., Redwood,C.S. and
            Borovikov,Y.S.
  TITLE     Looking for Targets to Restore the Contractile Function in
            Congenital Myopathy Caused by Gln147Pro Tropomyosin
  JOURNAL   Int J Mol Sci 21 (20), 7590 (2020)
   PUBMED   33066566
  REMARK    GeneRIF: Looking for Targets to Restore the Contractile Function in
            Congenital Myopathy Caused by Gln(147)Pro Tropomyosin.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1190)
  AUTHORS   Geeves,M.A., Hitchcock-DeGregori,S.E. and Gunning,P.W.
  TITLE     A systematic nomenclature for mammalian tropomyosin isoforms
  JOURNAL   J Muscle Res Cell Motil 36 (2), 147-153 (2015)
   PUBMED   25369766
  REMARK    Review article
REFERENCE   6  (bases 1 to 1190)
  AUTHORS   North,K.N. and Ryan,M.M.
  TITLE     Nemaline Myopathy - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301465
REFERENCE   7  (bases 1 to 1190)
  AUTHORS   DeChene,E.T., Kang,P.B. and Beggs,A.H.
  TITLE     Congenital Fiber-Type Disproportion - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301436
REFERENCE   8  (bases 1 to 1190)
  AUTHORS   Chevray,P.M. and Nathans,D.
  TITLE     Protein interaction cloning in yeast: identification of mammalian
            proteins that react with the leucine zipper of Jun
  JOURNAL   Proc Natl Acad Sci U S A 89 (13), 5789-5793 (1992)
   PUBMED   1631061
REFERENCE   9  (bases 1 to 1190)
  AUTHORS   Holtzer,M.E., Kidd,S.G., Crimmins,D.L. and Holtzer,A.
  TITLE     Beta beta homodimers exist in native rabbit skeletal muscle
            tropomyosin and increase after denaturation-renaturation
  JOURNAL   Protein Sci 1 (3), 335-341 (1992)
   PUBMED   1304342
REFERENCE   10 (bases 1 to 1190)
  AUTHORS   Prasad,G.L., Meissner,S., Sheer,D.G. and Cooper,H.L.
  TITLE     A cDNA encoding a muscle-type tropomyosin cloned from a human
            epithelial cell line: identity with human fibroblast tropomyosin
            TM1
  JOURNAL   Biochem Biophys Res Commun 177 (3), 1068-1075 (1991)
   PUBMED   2059197
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AI660199.1, X06825.1 and
            AJ572605.1.
            
            On Oct 30, 2019 this sequence version replaced NM_003289.3.
            
            Summary: This gene encodes beta-tropomyosin, a member of the actin
            filament binding protein family, and mainly expressed in slow, type
            1 muscle fibers. Mutations in this gene can alter the expression of
            other sarcomeric tropomyosin proteins, and cause cap disease,
            nemaline myopathy and distal arthrogryposis syndromes.
            Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene.[provided by RefSeq, Mar
            2009].
            
            Transcript Variant: This variant (Tpm2.2, also known as variant 1)
            represents the longer transcript and encodes isoform Tpm2.2st (also
            known as 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 :: X06825.1, SRR14038194.2294952.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162946, SAMN03267751
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000645482.3/ ENSP00000496494.2
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-222               AI660199.1         106-327
            223-973             X06825.1           221-971
            974-1190            AJ572605.1         164-380
FEATURES             Location/Qualifiers
     source          1..1190
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.3"
     gene            1..1190
                     /gene="TPM2"
                     /gene_synonym="AMCD1; CMYO23; CMYP23; DA1; DA2B; DA2B4;
                     HEL-S-273; NEM4; TMSB"
                     /note="tropomyosin 2"
                     /db_xref="GeneID:7169"
                     /db_xref="HGNC:HGNC:12011"
                     /db_xref="MIM:190990"
     exon            1..222
                     /gene="TPM2"
                     /gene_synonym="AMCD1; CMYO23; CMYP23; DA1; DA2B; DA2B4;
                     HEL-S-273; NEM4; TMSB"
                     /inference="alignment:Splign:2.1.0"
     CDS             109..963
                     /gene="TPM2"
                     /gene_synonym="AMCD1; CMYO23; CMYP23; DA1; DA2B; DA2B4;
                     HEL-S-273; NEM4; TMSB"
                     /note="isoform Tpm2.2st is encoded by transcript variant
                     Tpm2.2; tropomyosin beta chain; nemaline myopathy type 4;
                     epididymis secretory protein Li 273; tropomyosin 2 (beta)"
                     /codon_start=1
                     /product="tropomyosin beta chain isoform Tpm2.2st"
                     /protein_id="NP_003280.2"
                     /db_xref="CCDS:CCDS6587.1"
                     /db_xref="GeneID:7169"
                     /db_xref="HGNC:HGNC:12011"
                     /db_xref="MIM:190990"
                     /translation="MDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQ
                     ALQKKLKGTEDEVEKYSESVKEAQEKLEQAEKKATDAEADVASLNRRIQLVEEELDRA
                     QERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDR
                     KYEEVARKLVILEGELERSEERAEVAESKCGDLEEELKIVTNNLKSLEAQADKYSTKE
                     DKYEEEIKLLEEKLKEAETRAEFAERSVAKLEKTIDDLEDEVYAQKMKYKAISEELDN
                     ALNDITSL"
     exon            223..348
                     /gene="TPM2"
                     /gene_synonym="AMCD1; CMYO23; CMYP23; DA1; DA2B; DA2B4;
                     HEL-S-273; NEM4; TMSB"
                     /inference="alignment:Splign:2.1.0"
     exon            349..482
                     /gene="TPM2"
                     /gene_synonym="AMCD1; CMYO23; CMYP23; DA1; DA2B; DA2B4;
                     HEL-S-273; NEM4; TMSB"
                     /inference="alignment:Splign:2.1.0"
     exon            483..600
                     /gene="TPM2"
                     /gene_synonym="AMCD1; CMYO23; CMYP23; DA1; DA2B; DA2B4;
                     HEL-S-273; NEM4; TMSB"
                     /inference="alignment:Splign:2.1.0"
     exon            601..671
                     /gene="TPM2"
                     /gene_synonym="AMCD1; CMYO23; CMYP23; DA1; DA2B; DA2B4;
                     HEL-S-273; NEM4; TMSB"
                     /inference="alignment:Splign:2.1.0"
     exon            672..747
                     /gene="TPM2"
                     /gene_synonym="AMCD1; CMYO23; CMYP23; DA1; DA2B; DA2B4;
                     HEL-S-273; NEM4; TMSB"
                     /inference="alignment:Splign:2.1.0"
     exon            748..810
                     /gene="TPM2"
                     /gene_synonym="AMCD1; CMYO23; CMYP23; DA1; DA2B; DA2B4;
                     HEL-S-273; NEM4; TMSB"
                     /inference="alignment:Splign:2.1.0"
     exon            811..880
                     /gene="TPM2"
                     /gene_synonym="AMCD1; CMYO23; CMYP23; DA1; DA2B; DA2B4;
                     HEL-S-273; NEM4; TMSB"
                     /inference="alignment:Splign:2.1.0"
     exon            881..1190
                     /gene="TPM2"
                     /gene_synonym="AMCD1; CMYO23; CMYP23; DA1; DA2B; DA2B4;
                     HEL-S-273; NEM4; TMSB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1173..1178
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TPM2"
                     /gene_synonym="AMCD1; CMYO23; CMYP23; DA1; DA2B; DA2B4;
                     HEL-S-273; NEM4; TMSB"
                     /note="hexamer: AATAAA"
     polyA_site      1190
                     /gene="TPM2"
                     /gene_synonym="AMCD1; CMYO23; CMYP23; DA1; DA2B; DA2B4;
                     HEL-S-273; NEM4; TMSB"
                     /note="major polyA site"
ORIGIN      
        1 agtcccgctc cgtcctcctc gcctgccacc ggtgcaccca gtccgctcac ccagcccagt
       61 ccgtccggtc ctcaccgcct gccggccggc ccacccccca ccgcagccat ggacgccatc
      121 aagaagaaga tgcagatgct gaagctggac aaggagaacg ccatcgaccg cgccgagcag
      181 gccgaagccg acaagaagca agctgaggac cgctgcaagc agctggagga ggagcagcag
      241 gccctccaga agaagctgaa ggggacagag gatgaggtgg aaaagtattc tgaatccgtg
      301 aaggaggccc aggagaaact ggagcaggcc gagaagaagg ccactgatgc tgaggcagat
      361 gtggcctccc tgaaccgccg cattcagctg gttgaggagg agctggaccg ggcccaggag
      421 cgcctggcta cagccctgca gaagctggag gaggccgaga aggcggctga tgagagcgag
      481 agaggaatga aggtcatcga aaaccgggcc atgaaggatg aggagaagat ggaactgcag
      541 gagatgcagc tgaaggaggc caagcacatc gctgaggatt cagaccgcaa atatgaagag
      601 gtggccagga agctggtgat cctggaagga gagctggagc gctcggagga gagggctgag
      661 gtggccgaga gtaaatgtgg ggacctagag gaggagctga aaattgttac caacaacttg
      721 aaatccctgg aggcccaggc ggacaagtat tccaccaaag aagataaata tgaagaggag
      781 atcaaactgt tggaggagaa gctgaaggag gctgagaccc gagcagagtt tgccgagagg
      841 tctgtggcaa agttggagaa aaccatcgat gacctagaag atgaagtcta tgcccagaag
      901 atgaagtaca aggccattag cgaggaactg gacaacgcac tcaatgacat cacctccctc
      961 tgagccccac gccagcgtgg ccacctcagc tctcttctct cctctccttt ccattctctc
     1021 tatggggagg ggagcaggca ggaggagcag aaattgccaa cattgcacag ccaggctggg
     1081 agcagcctag ggagagcccc catcatgccc accacccact ctggcactgg cttcatcctt
     1141 tacctatccc cttccaccct cctttgctgc ttaataaatt ctgaacttgg
//
