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DNM2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

DNM2 gene

The DNM2 gene provides instructions for producing dynamin 2, a protein critical for cellular transport processes and maintaining the structural framework of cells.

Normal Function

The DNM2 gene provides instructions for making the protein dynamin 2, which is present in cells throughout the body. This protein is essential for endocytosis, the process by which cells bring substances inside. During this process, the cell membrane folds around an external substance to form a sac-like structure called a vesicle, which is then pinched off from the membrane. Dynamin 2 plays a key role in altering the cell membrane to facilitate the formation of these vesicles.

Additionally, dynamin 2 is involved in the cell's structural framework, or cytoskeleton. It interacts with microtubules and actin filaments to support cell shape, mobility, the movement of molecules within the cell, and the attachment of cells to one another.

Health Conditions Related to Genetic Changes

Centronuclear myopathy

At least 25 mutations in the DNM2 gene have been linked to centronuclear myopathy, a condition characterized by skeletal muscle weakness. These mutations are typically "gain-of-function," meaning they enhance the activity of dynamin 2. This overactivity disrupts endocytosis and leads to the disorganization of transverse tubules (T tubules)—structures within muscle fibers necessary for normal contraction and relaxation. Consequently, muscle cells cannot function properly, resulting in muscle weakness.

Charcot-Marie-Tooth disease

Mutations in the DNM2 gene are also associated with Charcot-Marie-Tooth disease.

Other Names for This Gene

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

Genomic Location

The DNM2 gene is found on chromosome 19.

Frequently Asked Questions

Current management is supportive: physical therapy, orthotic devices, and respiratory support when needed. No disease‑modifying drugs are approved yet, but research is exploring small‑molecule inhibitors that reduce dynamin 2 activity and gene‑editing approaches. Clinical trials are ongoing, and patients should be monitored for eligibility.
comprehensive evaluation includes nerve conduction studies showing demyelinating or axonal patterns, followed by targeted genetic testing (next‑generation sequencing panels or whole‑exome sequencing) that includes DNM2. Confirmation requires identification of a pathogenic variant and correlation with clinical findings.
DNM2 gain‑of‑function mutations increase dynamin 2 activity, disrupting endocytosis and the organization of transverse tubules in muscle fibers. This leads to centrally located nuclei, abnormal muscle fiber architecture, and reduced force generation. Clinically, patients present with early‑onset, proximal muscle weakness, hypotonia, and sometimes delayed motor milestones. Respiratory muscle involvement may occur in severe cases.
In CMT, DNM2 mutations impair axonal transport, leading to sensory loss, muscle wasting, and foot deformities. Management includes regular physiotherapy, balance training, and footwear modifications to prevent ulcers. Maintaining a healthy weight, avoiding repetitive strain, and using assistive devices (e.g., ankle‑foot orthoses) can reduce progression and improve quality of life.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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