MYBPC2

Summary

Gene Symbol: MYBPC2
Description: myosin binding protein C, fast type
Alias: MYBPC, MYBPCF, myosin-binding protein C, fast-type, C-protein, skeletal muscle fast isoform, fast MyBP-C, fast-type muscle myosin-binding-protein C, testicular tissue protein Li 126
Species: human
Products:     MYBPC2

Top Publications

  1. Alyonycheva T, Mikawa T, Reinach F, Fischman D. Isoform-specific interaction of the myosin-binding proteins (MyBPs) with skeletal and cardiac myosin is a property of the C-terminal immunoglobulin domain. J Biol Chem. 1997;272:20866-72 pubmed
    ..Evidence is presented indicating that MyBP-H and -C compete for binding to a discrete number of sites in myosin filaments. ..
  2. Moolman Smook J, Flashman E, de Lange W, Li Z, Corfield V, Redwood C, et al. Identification of novel interactions between domains of Myosin binding protein-C that are modulated by hypertrophic cardiomyopathy missense mutations. Circ Res. 2002;91:704-11 pubmed
    ..We suggest that the HCM mutations act by altering the cMyBPC collar, indicating its importance in thick filament structure and regulation. ..
  3. Giles J, Patel J, Miller A, Iverson E, Fitzsimons D, Moss R. Recovery of left ventricular function following in vivo reexpression of cardiac myosin binding protein C. J Gen Physiol. 2019;151:77-89 pubmed publisher
    ..and commensurate impairment of systolic and diastolic function to levels approaching those observed in MYBPC 3 null mice...
  4. Ding J, Peng Z, Wu D, Miao J, Liu B, Wang L. A transcriptomics study of differentiated C2C12 myoblasts identified novel functional responses to 17β-estradiol. Cell Biol Int. 2018;42:965-974 pubmed publisher
    ..were identified, and RT-qPCR validation results showed seven cytoskeletal genes (Myh8, Cenpe, Jak3, Obscn, Ldb3, Mybpc2, Col4a3bp), three genes related to ion channels (Kcnq1, Lrrc26, P2rx3) and Fhl1 transcript 2 were associated with ..
  5. Yamamoto Y, Ueyama T, Ito T, Tsuruo Y. Downregulation of growth hormone 1 gene in the cerebellum and prefrontal cortex of rats with depressive-like behavior. Physiol Genomics. 2015;47:170-6 pubmed publisher
    ..both the cerebellum and PFC of the depressive group were Alas2, Gh1, Hba-a2, Hbb, Hbb-b1, Hbe2, LOC689064, Mrps10, Mybpc, Olf6415, and Pfkb1...
  6. Freeman L, Rush J, Meurs K, Bulmer B, Cunningham S. Body size and metabolic differences in Maine Coon cats with and without hypertrophic cardiomyopathy. J Feline Med Surg. 2013;15:74-80 pubmed publisher
    ..Sixteen of 63 cats had HCM [myosin binding protein C (MYBPC)+, n = 3 and MYBPC-, n = 13] and 47/63 were echocardiographically normal (MYBPC+, n = 17 and MYBPC-, n = 30)...
  7. Müller A, Bockstahler M, Hristov G, Weiß C, Fischer A, Korkmaz Icöz S, et al. Identification of novel antigens contributing to autoimmunity in cardiovascular diseases. Clin Immunol. 2016;173:64-75 pubmed publisher
    ..Hereby, 3 peptide sequences, derived from myosin-binding-protein-C (MYBPC) fast-type, RNA-binding-protein 20 (RBM20), and dystrophin, showed pathogenic effects on the myocardium of mice...
  8. Toib A, Zhang C, Borghetti G, Zhang X, Wallner M, Yang Y, et al. Remodeling of repolarization and arrhythmia susceptibility in a myosin-binding protein C knockout mouse model. Am J Physiol Heart Circ Physiol. 2017;313:H620-H630 pubmed publisher
    ..phenotype and cellular electrophysiological properties of mice with HCM, induced by myosin-binding protein C (MyBPC) knockout (KO), and to test the hypothesis that remodeling of repolarizing K+ currents causes APD ..
  9. Yang W, Lu B, Fu J. Molecular Convergent Evolution of the MYBPC2 Gene Among Three High-Elevation Amphibian Species. J Mol Evol. 2017;84:139-143 pubmed publisher
    We report a strong pattern of molecular-level convergent/parallel evolution of the MYBPC2 gene...

More Information

Publications23

  1. Tarkiainen M, Sipola P, Jalanko M, Helio T, Laine M, Jarvinen V, et al. Cardiovascular magnetic resonance of mitral valve length in hypertrophic cardiomyopathy. J Cardiovasc Magn Reson. 2016;18:33 pubmed publisher
    ..Of the subjects with the MYBPC-Q1016X mutation, 32 had left ventricular hypertrophy (LVH, LV maximal wall thickness ≥ 13 mm in CMR) and 15 ..
  2. Li M, Andersson Lendahl M, Sejersen T, Arner A. Knockdown of fast skeletal myosin-binding protein C in zebrafish results in a severe skeletal myopathy. J Gen Physiol. 2016;147:309-22 pubmed publisher
    Myosin-binding protein C (MyBPC) in the muscle sarcomere interacts with several contractile and structural proteins. Mutations in the cardiac isoform (MyBPC-3) in humans, or animal knockout, are associated with cardiomyopathy...
  3. Gresham K, Stelzer J. The contributions of cardiac myosin binding protein C and troponin I phosphorylation to β-adrenergic enhancement of in vivo cardiac function. J Physiol. 2016;594:669-86 pubmed publisher
    ..e. serine to alanine substitution at Ser273, Ser282 and Ser302; MyBPC(PKA-)) to generate a novel mouse model expressing non-phosphorylatable PKA residues in TnI and MyBP-C (DBL(PKA-))...
  4. Jiang J, Burgon P, Wakimoto H, Onoue K, Gorham J, O Meara C, et al. Cardiac myosin binding protein C regulates postnatal myocyte cytokinesis. Proc Natl Acad Sci U S A. 2015;112:9046-51 pubmed publisher
    Homozygous cardiac myosin binding protein C-deficient (Mybpc(t/t)) mice develop dramatic cardiac dilation shortly after birth; heart size increases almost twofold. We have investigated the mechanism of cardiac enlargement in these hearts...
  5. Guardiani C, Cecconi F, Livi R. Computational analysis of folding and mutation properties of C5 domain of myosin binding protein C. Proteins. 2008;70:1313-22 pubmed
    ..This indicates the CD-loop as a natively unfolded sequence with a likely coupling between folding and ligand binding. ..
  6. Luther P, Bennett P, Knupp C, Craig R, Padrón R, Harris S, et al. Understanding the organisation and role of myosin binding protein C in normal striated muscle by comparison with MyBP-C knockout cardiac muscle. J Mol Biol. 2008;384:60-72 pubmed publisher
    ..However, in the MyBP-C-deficient hearts these extra meridional reflections are weak or absent, suggesting that they are due to MyBP-C itself or to MyBP-C in combination with a head perturbation brought about by the presence of MyBP-C. ..
  7. Blandin G, Marchand S, Charton K, Daniele N, Gicquel E, Boucheteil J, et al. A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome. Skelet Muscle. 2013;3:3 pubmed publisher
    ..This dataset represents a valuable resource for future functional investigations. ..
  8. Weber F, Vaughan K, Reinach F, Fischman D. Complete sequence of human fast-type and slow-type muscle myosin-binding-protein C (MyBP-C). Differential expression, conserved domain structure and chromosome assignment. Eur J Biochem. 1993;216:661-9 pubmed
    ..Sequence comparison of all three proteins has allowed us to map a highly conserved region between the first and second C2 motifs, the only large spacer sequence present between motifs in these proteins. ..
  9. Hitomi N, Kubo T, Kitaoka H, Hirota T, Hamada T, Hoshikawa E, et al. A frameshift deletion mutation in the cardiac myosin-binding protein C gene associated with dilated phase of hypertrophic cardiomyopathy and dilated cardiomyopathy. J Cardiol. 2010;56:189-96 pubmed publisher
    A few studies reported that some mutations in the cardiac myosin-binding protein C (MyBPC) gene were associated with dilated phase of hypertrophic cardiomyopathy (D-HCM) resembling dilated cardiomyopathy (DCM)...
  10. Tanjore R, Rangaraju A, Kerkar P, Calambur N, Nallari P. MYBPC3 gene variations in hypertrophic cardiomyopathy patients in India. Can J Cardiol. 2008;24:127-30 pubmed
    ..Cardiac myosin-binding protein C (MyBPC) is the predominant myosin-binding protein isoform in the heart muscle...
  11. Flashman E, Korkie L, Watkins H, Redwood C, Moolman Smook J. Support for a trimeric collar of myosin binding protein C in cardiac and fast skeletal muscle, but not in slow skeletal muscle. FEBS Lett. 2008;582:434-8 pubmed publisher
    Myosin-binding protein C (MyBPC) is proposed to take on a trimeric collar arrangement around the thick filament backbone in cardiac muscle, based on interactions between cardiac MyBPC domains C5 and C8...
  12. Welikson R, Fischman D. 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. J Cell Sci. 2002;115:3517-26 pubmed
    ..These latter sites are neither sufficient nor required for cable formation. ..
  13. Meurs K, Kuan M. Differential methylation of CpG sites in two isoforms of myosin binding protein C, an important hypertrophic cardiomyopathy gene. Environ Mol Mutagen. 2011;52:161-4 pubmed publisher
    ..of the CpGs within the exonic regions of the skeletal muscle isoform of the myosin binding protein C gene (MYBPC2); there are no known mutations that lead to the development of familial human disease within this gene...
  14. Singh R, Dunn J, Qadan M, Hall N, Wang K, Root D. Whole length myosin binding protein C stabilizes myosin S2 as measured by gravitational force spectroscopy. Arch Biochem Biophys. 2018;638:41-51 pubmed publisher
    ..The C-terminal end of myosin binding protein C (MyBPC) binds to LMM and the N-terminal end can bind either S2 or actin...