LOCUS       NM_004533               3604 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens myosin binding protein C2 (MYBPC2), mRNA.
ACCESSION   NM_004533
VERSION     NM_004533.4
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 3604)
  AUTHORS   Chen,Z., Li,X.Y., Guo,P. and Wang,D.L.
  TITLE     MYBPC2 and MYL1 as Significant Gene Markers for Rhabdomyosarcoma
  JOURNAL   Technol Cancer Res Treat 20, 1533033820979669 (2021)
   PUBMED   33499774
  REMARK    GeneRIF: MYBPC2 and MYL1 as Significant Gene Markers for
            Rhabdomyosarcoma.
REFERENCE   2  (bases 1 to 3604)
  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   3  (bases 1 to 3604)
  AUTHORS   Blandin,G., Marchand,S., Charton,K., Daniele,N., Gicquel,E.,
            Boucheteil,J.B., Bentaib,A., Barrault,L., Stockholm,D., Bartoli,M.
            and Richard,I.
  TITLE     A human skeletal muscle interactome centered on proteins involved
            in muscular dystrophies: LGMD interactome
  JOURNAL   Skelet Muscle 3 (1), 3 (2013)
   PUBMED   23414517
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3604)
  AUTHORS   Meurs,K.M. and Kuan,M.
  TITLE     Differential methylation of CpG sites in two isoforms of myosin
            binding protein C, an important hypertrophic cardiomyopathy gene
  JOURNAL   Environ Mol Mutagen 52 (2), 161-164 (2011)
   PUBMED   20740642
  REMARK    GeneRIF: the mean methylation level of CpGs was significantly
            higher in MYBPC3 than MYBPC2.
REFERENCE   5  (bases 1 to 3604)
  AUTHORS   Hitomi,N., Kubo,T., Kitaoka,H., Hirota,T., Hamada,T., Hoshikawa,E.,
            Hayato,K., Okawa,M., Kimura,A. and Doi,Y.L.
  TITLE     A frameshift deletion mutation in the cardiac myosin-binding
            protein C gene associated with dilated phase of hypertrophic
            cardiomyopathy and dilated cardiomyopathy
  JOURNAL   J Cardiol 56 (2), 189-196 (2010)
   PUBMED   20605413
  REMARK    GeneRIF: The patients with a frameshift deletion mutation of MyBPC
            may develop LV systolic dysfunction and suffer from cardiovascular
            events through mid-life and beyond.
REFERENCE   6  (bases 1 to 3604)
  AUTHORS   Guardiani,C., Cecconi,F. and Livi,R.
  TITLE     Computational analysis of folding and mutation properties of C5
            domain of myosin binding protein C
  JOURNAL   Proteins 70 (4), 1313-1322 (2008)
   PUBMED   17876814
  REMARK    GeneRIF: the CD-loop is a natively unfolded sequence with a likely
            coupling between folding and ligand binding.
REFERENCE   7  (bases 1 to 3604)
  AUTHORS   Moolman-Smook,J., Flashman,E., de Lange,W., Li,Z., Corfield,V.,
            Redwood,C. and Watkins,H.
  TITLE     Identification of novel interactions between domains of Myosin
            binding protein-C that are modulated by hypertrophic cardiomyopathy
            missense mutations
  JOURNAL   Circ Res 91 (8), 704-711 (2002)
   PUBMED   12386147
  REMARK    GeneRIF: Identification of interactions between domains of Myosin
            binding protein-C that are modulated by hypertrophic cardiomyopathy
            missense mutations.
REFERENCE   8  (bases 1 to 3604)
  AUTHORS   Welikson,R.E. and Fischman,D.A.
  TITLE     The C-terminal IgI domains of myosin-binding proteins C and H
            (MyBP-C and MyBP-H) are both necessary and sufficient for the
            intracellular crosslinking of sarcomeric myosin in transfected
            non-muscle cells
  JOURNAL   J Cell Sci 115 (Pt 17), 3517-3526 (2002)
   PUBMED   12154082
REFERENCE   9  (bases 1 to 3604)
  AUTHORS   Alyonycheva,T.N., Mikawa,T., Reinach,F.C. and Fischman,D.A.
  TITLE     Isoform-specific interaction of the myosin-binding proteins (MyBPs)
            with skeletal and cardiac myosin is a property of the C-terminal
            immunoglobulin domain
  JOURNAL   J Biol Chem 272 (33), 20866-20872 (1997)
   PUBMED   9252413
REFERENCE   10 (bases 1 to 3604)
  AUTHORS   Weber,F.E., Vaughan,K.T., Reinach,F.C. and Fischman,D.A.
  TITLE     Complete sequence of human fast-type and slow-type muscle
            myosin-binding-protein C (MyBP-C). Differential expression,
            conserved domain structure and chromosome assignment
  JOURNAL   Eur J Biochem 216 (2), 661-669 (1993)
   PUBMED   8375400
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC020909.9, CF553029.1,
            BC130536.1 and AA086285.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_004533.3.
            
            Summary: This gene encodes a member of the myosin-binding protein C
            family. This family includes the fast-, slow- and cardiac-type
            isoforms, each of which is a myosin-associated protein found in the
            cross-bridge-bearing zone (C region) of A bands in striated muscle.
            The protein encoded by this locus is referred to as the fast-type
            isoform. Mutations in the related but distinct genes encoding the
            slow-type and cardiac-type isoforms have been associated with
            distal arthrogryposis, type 1 and hypertrophic cardiomyopathy,
            respectively. [provided by RefSeq, Jul 2012].
            
            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 :: X73113.1, HM005439.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2152719, SAMEA2158800
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000357701.6/ ENSP00000350332.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                AC020909.9         31198-31208
            12-44               CF553029.1         1-33
            45-3268             BC130536.1         1-3224
            3269-3276           AA086285.1         336-343             c
            3277-3509           BC130536.1         3233-3465
            3510-3604           AA086285.1         6-100               c
FEATURES             Location/Qualifiers
     source          1..3604
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     gene            1..3604
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /note="myosin binding protein C2"
                     /db_xref="GeneID:4606"
                     /db_xref="HGNC:HGNC:7550"
                     /db_xref="MIM:160793"
     exon            1..81
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /inference="alignment:Splign:2.1.0"
     CDS             63..3488
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /note="fast-type muscle myosin-binding-protein C; fast
                     MyBP-C; testicular tissue protein Li 126; myosin binding
                     protein C, fast type; fast skeletal-type muscle
                     myosin-binding-protein C"
                     /codon_start=1
                     /product="myosin-binding protein C, fast-type"
                     /protein_id="NP_004524.3"
                     /db_xref="CCDS:CCDS46152.1"
                     /db_xref="GeneID:4606"
                     /db_xref="HGNC:HGNC:7550"
                     /db_xref="MIM:160793"
                     /translation="MPEAKPAAKKAPKGKDAPKGAPKEAPPKEAPAEAPKEAPPEDQS
                     PTAEEPTGVFLKKPDSVSVETGKDAVVVAKVNGKELPDKPTIKWFKGKWLELGSKSGA
                     RFSFKESHNSASNVYTVELHIGKVVLGDRGYYRLEVKAKDTCDSCGFNIDVEAPRQDA
                     SGQSLESFKRTSEKKSDTAGELDFSGLLKKREVVEEEKKKKKKDDDDLGIPPEIWELL
                     KGAKKSEYEKIAFQYGITDLRGMLKRLKKAKVEVKKSAAFTKKLDPAYQVDRGNKIKL
                     MVEISDPDLTLKWFKNGQEIKPSSKYVFENVGKKRILTINKCTLADDAAYEVAVKDEK
                     CFTELFVKEPPVLIVTPLEDQQVFVGDRVEMAVEVSEEGAQVMWMKDGVELTREDSFK
                     ARYRFKKDGKRHILIFSDVVQEDRGRYQVITNGGQCEAELIVEEKQLEVLQDIADLTV
                     KASEQAVFKCEVSDEKVTGKWYKNGVEVRPSKRITISHVGRFHKLVIDDVRPEDEGDY
                     TFVPDGYALSLSAKLNFLEIKVEYVPKQEPPKIHLDCSGKTSENAIVVVAGNKLRLDV
                     SITGEPPPVATWLKGDEVFTTTEGRTRIEKRVDCSSFVIESAQREDEGRYTIKVTNPV
                     GEDVASIFLQVVDVPDPPEAVRITSVGEDWAILVWEPPMYDGGKPVTGYLVERKKKGS
                     QRWMKLNFEVFTETTYESTKMIEGILYEMRVFAVNAIGVSQPSMNTKPFMPIAPTSEP
                     LHLIVEDVTDTTTTLKWRPPNRIGAGGIDGYLVEYCLEGSEEWVPANTEPVERCGFTV
                     KNLPTGARILFRVVGVNIAGRSEPATLAQPVTIREIAEPPKIRLPRHLRQTYIRKVGE
                     QLNLVVPFQGKPRPQVVWTKGGAPLDTSRVHVRTSDFDTVFFVRQAARSDSGEYELSV
                     QIENMKDTATIRIRVVEKAGPPINVMVKEVWGTNALVEWQAPKDDGNSEIMGYFVQKA
                     DKKTMEWFNVYERNRHTSCTVSDLIVGNEYYFRVYTENICGLSDSPGVSKNTARILKT
                     GITFKPFEYKEHDFRMAPKFLTPLIDRVVVAGYSAALNCAVRGHPKPKVVWMKNKMEI
                     REDPKFLITNYQGVLTLNIRRPSPFDAGTYTCRAVNELGEALAECKLEVRVPQ"
     exon            82..171
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /inference="alignment:Splign:2.1.0"
     exon            172..258
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /inference="alignment:Splign:2.1.0"
     exon            259..407
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /inference="alignment:Splign:2.1.0"
     exon            408..525
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /inference="alignment:Splign:2.1.0"
     exon            526..574
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /inference="alignment:Splign:2.1.0"
     exon            575..634
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /inference="alignment:Splign:2.1.0"
     exon            635..831
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /inference="alignment:Splign:2.1.0"
     exon            832..964
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /inference="alignment:Splign:2.1.0"
     exon            965..1089
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /inference="alignment:Splign:2.1.0"
     exon            1090..1195
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /inference="alignment:Splign:2.1.0"
     exon            1196..1368
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /inference="alignment:Splign:2.1.0"
     exon            1369..1534
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /inference="alignment:Splign:2.1.0"
     exon            1535..1641
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /inference="alignment:Splign:2.1.0"
     exon            1642..1671
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /inference="alignment:Splign:2.1.0"
     exon            1672..1811
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /inference="alignment:Splign:2.1.0"
     exon            1812..1971
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /inference="alignment:Splign:2.1.0"
     exon            1972..2076
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /inference="alignment:Splign:2.1.0"
     exon            2077..2265
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /inference="alignment:Splign:2.1.0"
     exon            2266..2400
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /inference="alignment:Splign:2.1.0"
     exon            2401..2568
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /inference="alignment:Splign:2.1.0"
     exon            2569..2657
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /inference="alignment:Splign:2.1.0"
     exon            2658..2853
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /inference="alignment:Splign:2.1.0"
     exon            2854..2993
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /inference="alignment:Splign:2.1.0"
     exon            2994..3153
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /inference="alignment:Splign:2.1.0"
     exon            3154..3290
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /inference="alignment:Splign:2.1.0"
     exon            3291..3477
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /inference="alignment:Splign:2.1.0"
     exon            3478..3604
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3584..3589
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /note="hexamer: AACAAA"
     polyA_site      3604
                     /gene="MYBPC2"
                     /gene_synonym="fsMyBP-C; MYBPC; MYBPCF"
                     /note="major polyA site"
ORIGIN      
        1 gtcctcccta gggcctagcg ggacgcggct gcggtcagag gagcaggagg aggtcccccg
       61 acatgcctga ggcaaaacca gcggccaaaa aggcccccaa aggcaaagat gcccccaaag
      121 gagcccccaa ggaggctccc cctaaggagg ctcctgcaga ggcccccaaa gaagccccac
      181 ccgaggacca gtccccgact gcagaggagc ccaccggcgt tttcctgaag aagccggact
      241 ccgtctcagt ggagactggg aaggacgcag tggtcgtggc caaggtgaac gggaaggagc
      301 tcccagacaa accgaccatc aagtggttca aggggaagtg gctggagctg ggcagcaaga
      361 gtggcgcccg cttctccttc aaggagtccc acaactccgc cagcaatgtg tacaccgtgg
      421 agctgcacat tgggaaggtg gtactggggg accgtgggta ttaccgcctc gaggtcaaag
      481 ccaaggacac ctgtgacagc tgtggcttca acatcgatgt ggaggcaccc cgtcaggatg
      541 cctctgggca gagtctagaa agcttcaagc gtacgagtga aaagaagtcg gatactgcag
      601 gtgagctgga tttcagtggc ctgttgaaga agagggaggt ggtggaggag gagaagaaga
      661 agaaaaagaa agatgacgat gacctaggca tccccccgga gatttgggag ctcctgaaag
      721 gggcaaagaa gagcgagtac gagaaaatcg ccttccagta tggcatcacc gacctccggg
      781 gcatgctgaa gcggctgaaa aaggctaagg tcgaggtcaa gaagagtgca gcattcacaa
      841 agaagctgga tccagcctac caagtggaca gaggcaacaa gatcaagttg atggtagaga
      901 tcagcgaccc agacctgacc ctcaagtggt tcaagaacgg ccaggagatc aaaccaagca
      961 gcaagtacgt gtttgagaac gttggtaaga agcgaattct taccatcaac aagtgcacgc
     1021 tggcggatga cgctgcctat gaagtagctg tcaaggatga gaagtgtttc accgagctct
     1081 tcgtcaaaga acctccagtc ctaattgtca cacctcttga ggaccagcag gtgtttgtgg
     1141 gtgaccgggt ggaaatggca gtggaggtgt cagaagaggg tgcccaggtg atgtggatga
     1201 aagatggtgt ggaactgact cgggaggatt ccttcaaggc ccggtaccgc ttcaagaagg
     1261 acgggaagcg ccacatcctc atcttctcag acgtggtcca ggaggacagg ggtcgctatc
     1321 aggtcataac caatggcggc cagtgtgagg ccgagctgat tgtggaagag aaacagctgg
     1381 aggtcctgca ggacatcgcg gatctgacgg tgaaggcctc agaacaagct gtgttcaagt
     1441 gcgaggtgtc tgatgagaaa gtgacgggca agtggtataa gaatggggtc gaggtgcggc
     1501 ccagcaagag gatcaccatt tcccatgtag gcaggttcca caagctggtg atcgatgacg
     1561 tccgccccga ggatgaggga gactacacgt ttgtgcctga cggctacgcc ctgtcgctct
     1621 cggccaagct caacttcctg gaaatcaagg tggagtacgt tcccaagcaa gagccaccaa
     1681 agatccactt ggattgctcg gggaagacct cagagaatgc gattgtggtt gtggctggaa
     1741 acaagctgag gcttgacgtg tccatcacag gggagccccc tcccgtcgct acctggctga
     1801 agggagatga ggtattcacg accaccgagg gcaggacccg catcgagaag cgggtggact
     1861 gcagcagctt tgtgattgag agtgcgcagc gggaagacga gggccgctac accatcaagg
     1921 tcaccaaccc cgtcggcgag gacgtggctt ccatcttcct gcaagttgta gatgtcccag
     1981 accccccgga ggctgtgcgc atcacctcgg ttggagagga ttgggccatc cttgtctggg
     2041 agccaccaat gtacgatggg gggaagccag tcaccgggta cctcgtagag cggaagaaga
     2101 agggctctca gcgctggatg aagctgaact ttgaggtctt cacagagacc acctatgagt
     2161 ccaccaagat gatcgagggc atcctctatg agatgcgtgt cttcgccgtc aatgctatag
     2221 gggtctccca gcccagcatg aacaccaagc cttttatgcc tattgcaccc acgagtgaac
     2281 ccctgcacct gatagtggag gatgtgacag acaccaccac cacactcaag tggaggcctc
     2341 cgaacaggat cggggcaggt ggcatcgatg ggtacctggt ggagtactgc ctggaaggct
     2401 ccgaggaatg ggtccctgcc aacaccgagc ccgtggagcg ctgtggcttc accgtcaaga
     2461 atctcccgac cggagccaga atcctcttcc gagtagttgg ggtcaacatc gcggggcgca
     2521 gcgagccggc caccctggcc cagccggtca ccatcaggga gattgcggag ccacccaaga
     2581 tccggcttcc ccgccatctc cgccagacct acatccgcaa agtgggcgag cagctcaacc
     2641 ttgtcgtccc cttccaggga aagccccggc cccaggtggt gtggaccaag ggcggggccc
     2701 cgctggacac ctcccgcgtg cacgtgcgga ccagcgactt cgacaccgtg ttcttcgtgc
     2761 gccaggcggc ccgctccgac tccggggagt acgagctgag cgtgcagatc gagaacatga
     2821 aggacaccgc caccatccgc atccgcgttg tggaaaaggc tgggcccccc ataaacgtga
     2881 tggtgaagga ggtgtggggc acgaacgcgc tggtggagtg gcaggccccc aaagatgatg
     2941 ggaacagtga gatcatgggg tatttcgtcc agaaagcaga caaaaaaacc atggagtggt
     3001 tcaacgtcta tgaacgtaac aggcacacta gctgtactgt gtccgacctt atcgtgggca
     3061 atgaatacta tttccgagtt tacaccgaga acatctgtgg gctcagtgac tcacctggtg
     3121 tctccaagaa cacggcccgc atcctcaaga caggaatcac cttcaaaccg ttcgagtata
     3181 aggagcatga cttccggatg gctcccaagt tcctgacacc tctcatagac cgcgtggtcg
     3241 tggctgggta ctcggcagcc ctcaactgtg ctgtcagagg ccacccgaag ccgaaggtgg
     3301 tctggatgaa gaacaagatg gaaatccgtg aagatcccaa gttcctgata accaattacc
     3361 aaggagtcct gacgctgaac atccgtcgcc cctcgccctt cgacgctggg acttacacct
     3421 gccgggccgt caacgagctg ggcgaggcgc tggctgagtg caagctggag gtccgagtgc
     3481 cgcagtgaga cctgtcccct acctgccaag acaattggtg gtggagtcct gaccccaatc
     3541 cccaacctcc caggactgtg ttctttctgg agttttcgct gagaacaaaa cagtgttgtc
     3601 tgga
//
