Gene Symbol: MYOZ2
Description: myozenin 2
Alias: C4orf5, CMH16, CS-1, FATZ-2, myozenin-2, FATZ-related protein 2, calcineurin-binding protein calsarcin-1, muscle-specific protein
Species: human
Products:     MYOZ2

Top Publications

  1. Levin E, Leibinger M, Gobrecht P, Hilla A, Andreadaki A, Fischer D. Muscle LIM Protein Is Expressed in the Injured Adult CNS and Promotes Axon Regeneration. Cell Rep. 2019;26:1021-1032.e6 pubmed publisher
    ..Thus, MLP-mediated effects on actin could become a therapeutic strategy for promoting nerve repair. ..
  2. Li L, Huang Q, Barbero M, Liu L, Nguyen T, Beretta Piccoli M, et al. Quantitative proteomics analysis to identify biomarkers of chronic myofascial pain and therapeutic targets of dry needling in a rat model of myofascial trigger points. J Pain Res. 2019;12:283-298 pubmed publisher the PKM gene), the muscle isoform of glycogen phosphorylase (encoded by the PYGM gene), and myozenin 2 (encoded by the MYOZ2 gene). The validation results were consistent with the TMT results...
  3. Li Y, Zhu G, Ma Y, Qu H. Expression and prognosis of MYOZ2 in gastric cancer. Eur Rev Med Pharmacol Sci. 2018;22:5920-5927 pubmed publisher
    To investigate the expression of human myozenin 2 (MYOZ2) in cancer tissues and its effect on the prognosis of patients with gastric cancer...
  4. Sambuughin N, Swietnicki W, Techtmann S, Matrosova V, Wallace T, Goldfarb L, et al. KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase. Biochem Biophys Res Commun. 2012;421:743-9 pubmed publisher
    ..KBTBD13 is a muscle specific protein composed of an N terminal BTB domain and a C terminal Kelch-repeat domain...
  5. Stavusis J, Inashkina I, Jankevics E, Radovica I, Micule I, Strautmanis J, et al. CAV3 gene sequence variations: National Genome Database and clinics. Acta Neurol Scand. 2015;132:185-90 pubmed publisher
    ..Persons included in the National Genome Database could be screened for late onset Mendelian diseases. ..
  6. Spinazzola J, Smith T, Liu M, Luna E, Barton E. Gamma-sarcoglycan is required for the response of archvillin to mechanical stimulation in skeletal muscle. Hum Mol Genet. 2015;24:2470-81 pubmed publisher
    ..These results position archvillin as a mechanically sensitive component of the dystrophin complex and demonstrate that signaling defects caused by loss of γ-SG occur both at the sarcolemma and in the nucleus. ..
  7. Wang Y, Yang W, Li P, Wang H, Zhang Y, Zan L. Myocyte enhancer factor 2A promotes proliferation and its inhibition attenuates myogenic differentiation via myozenin 2 in bovine skeletal muscle myoblast. PLoS ONE. 2018;13:e0196255 pubmed publisher
    ..Besides, MEF2A was found to be an important transcription factor that bound to the myozenin 2 (MyoZ2) proximal promoter and performed upstream of MyoZ2 during myoblast differentiation...
  8. Lu S, Crawford G, Dore J, Anderson S, Despres D, Horowits R. Cardiac-specific NRAP overexpression causes right ventricular dysfunction in mice. Exp Cell Res. 2011;317:1226-37 pubmed publisher
  9. González Coraspe J, Weis J, Anderson M, Münchberg U, Lorenz K, Buchkremer S, et al. Biochemical and pathological changes result from mutated Caveolin-3 in muscle. Skelet Muscle. 2018;8:28 pubmed publisher
    ..Glycosylation of sarcolemmal proteins seems to be normal. The new pathophysiological insights might be of relevance for the development of therapeutic strategies for caveolinopathy patients targeting improved protein folding capacity. ..

More Information


  1. Millay D, Gamage D, Quinn M, Min Y, Mitani Y, Bassel Duby R, et al. Structure-function analysis of myomaker domains required for myoblast fusion. Proc Natl Acad Sci U S A. 2016;113:2116-21 pubmed publisher
    ..These findings represent an important step toward deciphering the cellular components and mechanisms that control myoblast fusion and muscle formation. ..
  2. Wu Y, Huang J, Liu D, Tan J, Peng Y, Yang J, et al. Mitsugumin 53 protects the kidney from severe burn injury in mice. Burns Trauma. 2013;1:128-33 pubmed publisher
    ..In conclusion, our data indicate that MG53 protein protects the kidney by involving local PTRF after severe burn injury. ..
  3. Yan J, Zhang L, Sultana N, Park D, Shekhar A, Bu L, et al. A Murine Myh6MerCreMer Knock-In Allele Specifically Mediates Temporal Genetic Deletion in Cardiomyocytes after Tamoxifen Induction. PLoS ONE. 2015;10:e0133472 pubmed publisher
    ..Mhy6 encodes a cardiac muscle specific protein: alpha-myosin heavy chain...
  4. Bottje W, Kong B, Reverter A, Waardenberg A, Lassiter K, Hudson N. Progesterone signalling in broiler skeletal muscle is associated with divergent feed efficiency. BMC Syst Biol. 2017;11:29 pubmed publisher pointed to a coordinated reduction in slow twitch muscle isoforms of the contractile apparatus (MYH15, TPM3, MYOZ2, TNNI1, MYL2, MYOM3, CSRP3, TNNT2), consistent with diminishment in associated slow machinery (myoglobin and ..
  5. Kumar B, Brown N, Swanson B, Schmitt A, Old M, Ozer E, et al. High expression of myoferlin is associated with poor outcome in oropharyngeal squamous cell carcinoma patients and is inversely associated with HPV-status. Oncotarget. 2016;7:18665-77 pubmed publisher
    Myoferlin (MYOF) is a member of ferlin family of membrane proteins that was originally discovered as a muscle specific protein. Recent studies have shown that myoferlin is also expressed in other cell types including endothelial cells ..
  6. Albrecht I, Wick C, Hallgren Ã, Tjärnlund A, Nagaraju K, Andrade F, et al. Development of autoantibodies against muscle-specific FHL1 in severe inflammatory myopathies. J Clin Invest. 2015;125:4612-24 pubmed publisher
    ..Importantly, these results indicate that anti-FHL1 autoantibodies in peripheral blood have promising potential as a biomarker to identify a subset of severe IIM. ..
  7. Quinn M, Goh Q, Kurosaka M, Gamage D, Petrany M, Prasad V, et al. Myomerger induces fusion of non-fusogenic cells and is required for skeletal muscle development. Nat Commun. 2017;8:15665 pubmed publisher
    ..Our findings identify myomerger as a fundamental myoblast fusion protein and establish a system that begins to reconstitute mammalian cell fusion. ..
  8. Sestili P, Barbieri E, Stocchi V. Effects of Creatine in Skeletal Muscle Cells and in Myoblasts Differentiating Under Normal or Oxidatively Stressing Conditions. Mini Rev Med Chem. 2016;16:4-11 pubmed
  9. Palmer S, Groves N, Schindeler A, Yeoh T, Biben C, Wang C, et al. The small muscle-specific protein Csl modifies cell shape and promotes myocyte fusion in an insulin-like growth factor 1-dependent manner. J Cell Biol. 2001;153:985-98 pubmed
  10. Li C, Vu K, Hazelgrove K, Kuemmerle J. Increased IGF-IEc expression and mechano-growth factor production in intestinal muscle of fibrostenotic Crohn's disease and smooth muscle hypertrophy. Am J Physiol Gastrointest Liver Physiol. 2015;309:G888-99 pubmed publisher
  11. Osio A, Tan L, Chen S, Lombardi R, Nagueh S, Shete S, et al. Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy. Circ Res. 2007;100:766-8 pubmed
    ..4-centimorgan region on 4q26-q27 locus and encompassed myozenin 2 (MYOZ2), a Z-disk protein. The maximum logarithm of odds score was 2.03 (P=0.005)...
  12. Guo X, Fan C, Wang Y, Wang M, Cai C, Yang Y, et al. Genetic anticipation in a special form of hypertrophic cardiomyopathy with sudden cardiac death in a family with 74 members across 5 generations. Medicine (Baltimore). 2017;96:e6249 pubmed publisher
    ..The sarcomere gene mutations MYH7-A719H and MYOZ2-L169G were detected in the HCM individuals in this pedigree...
  13. Frey N, Richardson J, Olson E. Calsarcins, a novel family of sarcomeric calcineurin-binding proteins. Proc Natl Acad Sci U S A. 2000;97:14632-7 pubmed
    ..Calsarcins represent a novel family of sarcomeric proteins that link calcineurin with the contractile apparatus, thereby potentially coupling muscle activity to calcineurin activation. ..
  14. Yadav A, Kumar B, Lang J, Teknos T, Kumar P. A muscle-specific protein 'myoferlin' modulates IL-6/STAT3 signaling by chaperoning activated STAT3 to nucleus. Oncogene. 2017;36:6374-6382 pubmed publisher
    ..Based on these results, we have proposed a novel model for the role of myoferlin in chaperoning phosphorylated STAT3 to the nucleus. ..
  15. Posch M, Perrot A, Dietz R, Ozcelik C, Pankuweit S, Ruppert V, et al. Mutations in MYOZ1 as well as MYOZ2 encoding the calsarcins are not associated with idiopathic and familial dilated cardiomyopathy. Mol Genet Metab. 2007;91:207-8 pubmed
  16. Gontier Y, Taivainen A, Fontao L, Sonnenberg A, van der Flier A, Carpen O, et al. The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins. J Cell Sci. 2005;118:3739-49 pubmed
    ..These data shed new light on the complex organization of the Z-disc that is highly relevant to understanding muscular dystrophies. ..
  17. Hayashi T, Arimura T, Itoh Satoh M, Ueda K, Hohda S, Inagaki N, et al. Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. J Am Coll Cardiol. 2004;44:2192-201 pubmed
    ..These observations suggest that the difference in clinical phenotype (HCM or DCM) may be correlated with the property of altered binding among the Z-disc components. ..
  18. Deng Y, Huang Y, Lu W, Huang Y, Xian J, Wei H, et al. The Caveolin-3 P104L mutation of LGMD-1C leads to disordered glucose metabolism in muscle cells. Biochem Biophys Res Commun. 2017;486:218-223 pubmed publisher
    Caveolin-3 (CAV3) is a muscle specific protein that plays an important role in maintaining muscle health and glucose homeostasis in vivo...
  19. Ahmad F, Gonzalez O, Ramagli L, Xu J, Siciliano M, Bachinski L, et al. Identification and characterization of a novel gene (C4orf5) located on human chromosome 4q with specific expression in cardiac and skeletal muscle. Genomics. 2000;70:347-53 pubmed
    ..A novel 1.3-kb cDNA (HGMW-approved symbol C4orf5) with an open reading frame of 795 bp was identified. A probe designed from the 3' untranslated region of the 1...
  20. Aurino S, Piluso G, Saccone V, Cacciottolo M, D Amico F, Dionisi M, et al. Candidate-gene testing for orphan limb-girdle muscular dystrophies. Acta Myol. 2008;27:90-7 pubmed
    ..We identified a large number of variations in any of the genes in both patients and controls. Correlations with disease or possible modifying effects on the LGMD phenotype remain to be investigated. ..
  21. Sneddon A, Delday M, Steven J, Maltin C. Elevated IGF-II mRNA and phosphorylation of 4E-BP1 and p70(S6k) in muscle showing clenbuterol-induced anabolism. Am J Physiol Endocrinol Metab. 2001;281:E676-82 pubmed
    ..These novel findings indicate that clenbuterol-induced muscle anabolism is potentially mediated, at least in part, by an IGF-II-induced activation of 4E-BP1 and p70(S6k)...
  22. Frey N, Olson E. Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins. J Biol Chem. 2002;277:13998-4004 pubmed
    ..Calsarcins represent a novel family of sarcomeric proteins that serve as focal points for the interactions of an array of proteins involved in Z-disc structure and signal transduction in striated muscle. ..
  23. Rangrez A, Hoppe P, Kuhn C, Zille E, Frank J, Frey N, et al. MicroRNA miR-301a is a novel cardiac regulator of Cofilin-2. PLoS ONE. 2017;12:e0183901 pubmed publisher
  24. Ruggiero A, Chen S, Lombardi R, Rodriguez G, Marian A. Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activity. Cardiovasc Res. 2013;97:44-54 pubmed publisher
    ..We determined potential involvement of calcineurin in the pathogenesis of HCM caused by mutations in myozenin 2 (MYOZ2), an inhibitor of calcineurin...
  25. Faulkner G, Pallavicini A, Formentin E, Comelli A, Ievolella C, Trevisan S, et al. ZASP: a new Z-band alternatively spliced PDZ-motif protein. J Cell Biol. 1999;146:465-75 pubmed
    ..The transcript coding for this Z-band alternatively spliced PDZ motif (ZASP) protein maps on chromosome 10q22.3-10q23.2, near the locus for infantile-onset spinocerebellar ataxia. ..
  26. von Nandelstadh P, Ismail M, Gardin C, Suila H, Zara I, Belgrano A, et al. A class III PDZ binding motif in the myotilin and FATZ families binds enigma family proteins: a common link for Z-disc myopathies. Mol Cell Biol. 2009;29:822-34 pubmed publisher
    ..This is the first report of a binding motif common to both the myotilin and the FATZ (calsarcin/myozenin) families that is specific for interactions with Enigma family members. ..
  27. Dunckley T, Lukas R. Nicotinic modulation of gene expression in SH-SY5Y neuroblastoma cells. Brain Res. 2006;1116:39-49 pubmed
    ..altered expression of thirteen out of fourteen of these genes chosen for further study, including contactin 1, myozenin 2, and ubiquitin-conjugating enzymes E2C and E2S...
  28. Martin L, Comuzzie A, Sonnenberg G, Myklebust J, James R, Marks J, et al. Major quantitative trait locus for resting heart rate maps to a region on chromosome 4. Hypertension. 2004;43:1146-51 pubmed
    ..This signal is in the same region as a quantitative trait locus (QTL) for long QT syndrome 4 and a QTL for heart rate in rats. Within the 1-LOD unit support interval, there are 2 strong candidates: ankyrin-B and myozenin 2.
  29. Takada F, Vander Woude D, Tong H, Thompson T, Watkins S, Kunkel L, et al. Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines. Proc Natl Acad Sci U S A. 2001;98:1595-600 pubmed
    ..Thus, myozenin is a skeletal muscle Z line protein that may be a good candidate gene for limb-girdle muscular dystrophy or other neuromuscular disorders. ..
  30. Herring B, Dixon S, Gallagher P. Smooth muscle myosin light chain kinase expression in cardiac and skeletal muscle. Am J Physiol Cell Physiol. 2000;279:C1656-64 pubmed
  31. Posch M, Thiemann L, Tomasov P, Veselka J, Cardim N, Garcia Castro M, et al. Sequence analysis of myozenin 2 in 438 European patients with familial hypertrophic cardiomyopathy. Med Sci Monit. 2008;14:CR372-4 pubmed
    ..b>MYOZ2 encodes for sarcomeric calsarcin-1 located in the myocardial z-disc, a focal point of HCM disease genes...