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DNM2 gene

dynamin 2
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Normal Function

The DNM2 gene provides instructions for making a protein called dynamin 2. Dynamin 2 is present in cells throughout the body. It is involved in endocytosis, which is a process that brings substances into the cell. During endocytosis, the cell membrane folds around a substance (such as a protein) outside the cell to form a sac-like structure called a vesicle. The vesicle is drawn into the cell and is pinched off from the cell membrane. Dynamin 2 is thought to play a key role in altering the cell membrane to form these vesicles.

Dynamin 2 is also involved in the cell's structural framework (cytoskeleton). The protein interacts with multiple parts of the cytoskeleton, including tube-like structures called microtubules and proteins called actin, which organize into filaments to provide structure. These parts of the cytoskeleton are involved in movement of molecules within the cells, cell shape, cell mobility, and attachment of cells to one another.

Health Conditions Related to Genetic Changes

Centronuclear myopathy

At least 25 mutations in the DNM2 gene have been found to cause centronuclear myopathy, a condition that is characterized by muscle weakness (myopathy) in the skeletal muscles, which are the muscles used for movement. Most of these mutations change single DNA building blocks (nucleotides) in regions of the gene known as exon 8, exon 11, and exon 16. These mutations lead to a change in the structure of dynamin 2. DNM2 gene mutations that cause centronuclear myopathy are described as "gain-of-function" because they appear to enhance the activity of dynamin 2, affecting endocytosis and leading to disorganization of structures similar to microtubules, called transverse tubules (T tubules), which are found within the membrane of muscle fibers. The T tubules are necessary for normal muscle tensing (contractions) and relaxation. As a result of the DNM2 gene mutations, the structure of muscle cells becomes abnormal and they cannot contract and relax normally, leading to the muscle weakness that is characteristic of centronuclear myopathy.

More About This Health Condition

Charcot-Marie-Tooth disease

MedlinePlus Genetics provides information about Charcot-Marie-Tooth disease

More About This Health Condition

Other Names for This Gene

  • CMT2M
  • CMTDI1
  • CMTDIB
  • DI-CMTB
  • DYN2
  • DYN2_HUMAN
  • dynamin II
  • DYNII

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • Bird TD. Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview. 1998 Sep 28 [updated 2020 May 14]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews┬« [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1358/ Citation on PubMed
  • Bitoun M, Bevilacqua JA, Prudhon B, Maugenre S, Taratuto AL, Monges S, Lubieniecki F, Cances C, Uro-Coste E, Mayer M, Fardeau M, Romero NB, Guicheney P. Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. Ann Neurol. 2007 Dec;62(6):666-70. Citation on PubMed
  • Bitoun M, Stojkovic T, Prudhon B, Maurage CA, Latour P, Vermersch P, Guicheney P. A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings. Neuromuscul Disord. 2008 Apr;18(4):334-8. doi: 10.1016/j.nmd.2008.01.005. Epub 2008 Apr 3. Citation on PubMed
  • Chin YH, Lee A, Kan HW, Laiman J, Chuang MC, Hsieh ST, Liu YW. Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation. Hum Mol Genet. 2015 Oct 1;24(19):5542-54. doi: 10.1093/hmg/ddv285. Epub 2015 Jul 21. Citation on PubMed
  • Fabrizi GM, Ferrarini M, Cavallaro T, Cabrini I, Cerini R, Bertolasi L, Rizzuto N. Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. Neurology. 2007 Jul 17;69(3):291-5. Citation on PubMed
  • Jeub M, Bitoun M, Guicheney P, Kappes-Horn K, Strach K, Druschky KF, Weis J, Fischer D. Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature. Clin Neuropathol. 2008 Nov-Dec;27(6):430-8. Review. Citation on PubMed
  • Jungbluth H, Gautel M. Pathogenic mechanisms in centronuclear myopathies. Front Aging Neurosci. 2014 Dec 19;6:339. doi: 10.3389/fnagi.2014.00339. eCollection 2014. Review. Citation on PubMed or Free article on PubMed Central
  • Niemann A, Berger P, Suter U. Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease. Neuromolecular Med. 2006;8(1-2):217-42. Review. Citation on PubMed
  • Romero NB. Centronuclear myopathies: a widening concept. Neuromuscul Disord. 2010 Apr;20(4):223-8. doi: 10.1016/j.nmd.2010.01.014. Epub 2010 Feb 23. Review. Citation on PubMed
  • Schafer DA. Regulating actin dynamics at membranes: a focus on dynamin. Traffic. 2004 Jul;5(7):463-9. Review. Citation on PubMed
  • Z├╝chner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, De Jonghe P, Merory J, Oliveira SA, Speer MC, Stenger JE, Walizada G, Zhu D, Pericak-Vance MA, Nicholson G, Timmerman V, Vance JM. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet. 2005 Mar;37(3):289-94. Epub 2005 Jan 30. Citation on PubMed
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