Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

DNM2

Reviewed November 2010

What is the official name of the DNM2 gene?

The official name of this gene is “dynamin 2.”

DNM2 is the gene's official symbol. The DNM2 gene is also known by other names, listed below.

What is the normal function of the DNM2 gene?

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, a process that brings substances into the cell. During endocytosis, the cell membrane folds around a substance outside the cell (such as a protein) 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 also associates with tube-like structures, called microtubules, which are part of the cell's structural framework (cytoskeleton). The cytoskeleton defines cell shape, organizes the placement of cell contents, and aids in cell movement. Microtubules are also essential for cell division. In a related role, dynamin 2 appears to be important for the structure of a cell component called the centrosome, which is the organizing center for microtubules.

How are changes in the DNM2 gene related to health conditions?

centronuclear myopathy - caused by mutations in the DNM2 gene

At least 14 mutations in the DNM2 gene have been found to cause centronuclear myopathy. 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. Research suggests that changing the structure of the protein impairs its interaction with microtubules and other components of the centrosome. It is unclear how DNM2 gene mutations cause the signs and symptoms of centronuclear myopathy.

Charcot-Marie-Tooth disease - caused by mutations in the DNM2 gene

Researchers have identified a few DNM2 gene mutations that cause a form of Charcot-Marie-Tooth disease known as dominant intermediate B. One mutation replaces the protein building block (amino acid) lysine with the amino acid glutamic acid at position 558 (written as Lys558Glu) in the dynamin 2 protein. As a result of other mutations, dynamin 2 is missing one or more amino acids.

In addition, at least three DNM2 gene mutations have been identified in individuals with another form of Charcot-Marie-Tooth disease called type 2. These mutations change or delete a single amino acid in dynamin 2.

DNM2 gene mutations affect the activity of the dynamin 2 protein. These mutations may disrupt endocytosis, interfere with the arrangement of microtubules in the cytoskeleton, and disturb cellular organization. Researchers suggest that the mutations may also cause dysfunction of the Schwann cells that surround nerves. Schwann cells form myelin sheaths, which are the fatty coverings that insulate and protect certain nerve cells and promote the efficient transmission of nerve impulses. It is unclear how DNM2 gene mutations cause the signs and symptoms of Charcot-Marie-Tooth disease.

Where is the DNM2 gene located?

Cytogenetic Location: 19p13.2

Molecular Location on chromosome 19: base pairs 10,718,052 to 10,831,909

The DNM2 gene is located on the short (p) arm of chromosome 19 at position 13.2.

The DNM2 gene is located on the short (p) arm of chromosome 19 at position 13.2.

More precisely, the DNM2 gene is located from base pair 10,718,052 to base pair 10,831,909 on chromosome 19.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about DNM2?

You and your healthcare professional may find the following resources about DNM2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the DNM2 gene or gene products?

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

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding DNM2?

acids ; amino acid ; cell ; cell division ; cell membrane ; centrosome ; cytoskeleton ; DNA ; endocytosis ; exon ; gene ; glutamic acid ; lysine ; mutation ; protein ; Schwann cells ; vesicle

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/17932957?dopt=Abstract)
  • Bitoun M, Maugenre S, Jeannet PY, Lacène E, Ferrer X, Laforêt P, Martin JJ, Laporte J, Lochmüller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P. Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet. 2005 Nov;37(11):1207-9. Epub 2005 Oct 16. (http://www.ncbi.nlm.nih.gov/pubmed/16227997?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/18394888?dopt=Abstract)
  • OMIM: DYNAMIN 2 (http://omim.org/entry/602378)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/17636067?dopt=Abstract)
  • Fischer D, Herasse M, Bitoun M, Barragán-Campos HM, Chiras J, Laforêt P, Fardeau M, Eymard B, Guicheney P, Romero NB. Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy. Brain. 2006 Jun;129(Pt 6):1463-9. Epub 2006 Apr 3. (http://www.ncbi.nlm.nih.gov/pubmed/16585051?dopt=Abstract)
  • Gene Review: Charcot-Marie-Tooth Hereditary Neuropathy Overview (http://www.ncbi.nlm.nih.gov/books/NBK1358)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/19130742?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1785)
  • Niemann A, Berger P, Suter U. Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease. Neuromolecular Med. 2006;8(1-2):217-42. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16775378?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/20181480?dopt=Abstract)
  • Schafer DA. Regulating actin dynamics at membranes: a focus on dynamin. Traffic. 2004 Jul;5(7):463-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15180823?dopt=Abstract)
  • Susman RD, Quijano-Roy S, Yang N, Webster R, Clarke NF, Dowling J, Kennerson M, Nicholson G, Biancalana V, Ilkovski B, Flanigan KM, Arbuckle S, Malladi C, Robinson P, Vucic S, Mayer M, Romero NB, Urtizberea JA, García-Bragado F, Guicheney P, Bitoun M, Carlier RY, North KN. Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Neuromuscul Disord. 2010 Apr;20(4):229-37. doi: 10.1016/j.nmd.2010.02.016. Epub 2010 Mar 12. (http://www.ncbi.nlm.nih.gov/pubmed/20227276?dopt=Abstract)
  • Thompson HM, Cao H, Chen J, Euteneuer U, McNiven MA. Dynamin 2 binds gamma-tubulin and participates in centrosome cohesion. Nat Cell Biol. 2004 Apr;6(4):335-42. Epub 2004 Mar 14. (http://www.ncbi.nlm.nih.gov/pubmed/15048127?dopt=Abstract)
  • Züchner 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. (http://www.ncbi.nlm.nih.gov/pubmed/15731758?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: November 2010
Published: November 24, 2014