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DNM2

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.

Read more about gene names and symbols on the About page.

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? 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

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

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.

See also Understanding Medical Terminology.

References (15 links)

 

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? in the Handbook.

 
Reviewed: November 2010
Published: August 25, 2014