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Reviewed November 2015

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, 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.

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

centronuclear myopathy - caused by mutations in the DNM2 gene

At least 24 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.

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. Charcot-Marie-Tooth disease is a group of progressive disorders that affect the peripheral nerves, which connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Damage to the peripheral nerves can result in loss of sensation and wasting (atrophy) of muscles in the feet, legs, and hands.

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 that cause Charcot-Marie-Tooth disease are described as "loss-of-function" because they impair 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 10,718,053 to 10,831,910

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 10,718,053 to base pair 10,831,910 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?

  • CMT2M
  • CMTDI1
  • DYN2
  • dynamin II

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?

actin ; amino acid ; atrophy ; cell ; cell membrane ; cytoskeleton ; DNA ; endocytosis ; exon ; gene ; muscle cells ; peripheral ; peripheral nerves ; protein ; Schwann cells ; sensory cells ; vesicle ; wasting

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (13 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 2015
Published: November 23, 2015