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Gene Review

MYH2  -  myosin, heavy chain 2, skeletal muscle, adult

Homo sapiens

Synonyms: IBM3, MYH2A, MYHSA2, MYHas8, MyHC-2A, ...
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Disease relevance of MYH2


High impact information on MYH2


Associations of MYH2 with chemical compounds


Biological context of MYH2

  • In addition, we analyzed the extent and distribution of nucleotide variation in MYH2 in 50 blood donors, who served as controls, by the complete sequencing of all 38 exons comprising the coding region [8].

Anatomical context of MYH2


Other interactions of MYH2


Analytical, diagnostic and therapeutic context of MYH2

  • METHODS: The expression of MyHC IIa in nine muscle specimens from six individuals carrying the mutation was analyzed by immunohistochemistry, sodium dodecyl sulfate-polyacrylamide gel electrophoresis, and a new reverse transcriptase--PCR method to measure the relative abundance of the various MyHC transcripts [1].


  1. Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age. Tajsharghi, H., Thornell, L.E., Darin, N., Martinsson, T., Kyllerman, M., Wahlström, J., Oldfors, A. Neurology (2002) [Pubmed]
  2. A Caenorhabditis elegans model of the myosin heavy chain IIa E706K [corrected] mutation. Tajsharghi, H., Pilon, M., Oldfors, A. Ann. Neurol. (2005) [Pubmed]
  3. Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene. Martinsson, T., Oldfors, A., Darin, N., Berg, K., Tajsharghi, H., Kyllerman, M., Wahlstrom, J. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  4. Concordant deletions of chromosome 3p and loss of heterozygosity for chromosomes 13 and 17 in small cell lung carcinoma. Mori, N., Yokota, J., Oshimura, M., Cavenee, W.K., Mizoguchi, H., Noguchi, M., Shimosato, Y., Sugimura, T., Terada, M. Cancer Res. (1989) [Pubmed]
  5. Characterization of the metastasis-associated protein, S100A4. Roles of calcium binding and dimerization in cellular localization and interaction with myosin. Kim, E.J., Helfman, D.M. J. Biol. Chem. (2003) [Pubmed]
  6. PstI RFLP at the MYH2 locus on chromosome 17. Schwartz, C. Nucleic Acids Res. (1990) [Pubmed]
  7. Association of CD38 with nonmuscle myosin heavy chain IIA and Lck is essential for the internalization and activation of CD38. Rah, S.Y., Park, K.H., Nam, T.S., Kim, S.J., Kim, H., Im, M.J., Kim, U.H. J. Biol. Chem. (2007) [Pubmed]
  8. Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2). Tajsharghi, H., Darin, N., Rekabdar, E., Kyllerman, M., Wahlström, J., Martinsson, T., Oldfors, A. Eur. J. Hum. Genet. (2005) [Pubmed]
  9. Localization of a locus for Charcot-Marie-Tooth neuropathy type Ia (CMT1A) to chromosome 17. McAlpine, P.J., Feasby, T.E., Hahn, A.F., Komarnicki, L., James, S., Guy, C., Dixon, M., Qayyum, S., Wright, J., Coopland, G. Genomics (1990) [Pubmed]
  10. Induced shift in myosin heavy chain expression in myosin myopathy by endurance training. Tajsharghi, H., Stibrant Sunnerhagen, K., Darin, N., Kyllerman, M., Oldfors, A. J. Neurol. (2004) [Pubmed]
  11. Muscle cell and motor protein function in patients with a IIa myosin missense mutation (Glu-706 to Lys). Li, M., Lionikas, A., Yu, F., Tajsharghi, H., Oldfors, A., Larsson, L. Neuromuscul. Disord. (2006) [Pubmed]
  12. Myopathies associated with myosin heavy chain mutations. Oldfors, A., Tajsharghi, H., Darin, N., Lindberg, C. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases. (2004) [Pubmed]
  13. Kinetic properties of myosin heavy chain isoforms in single fibers from human skeletal muscle. Hilber, K., Galler, S., Gohlsch, B., Pette, D. FEBS Lett. (1999) [Pubmed]
  14. Cloning of the murine non-muscle myosin heavy chain IIA gene ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes. D'Apolito, M., Guarnieri, V., Boncristiano, M., Zelante, L., Savoia, A. Gene (2002) [Pubmed]
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