DNM2 : dynamin 2
Description
The DNM2 (dynamin 2) is a protein-coding gene located on chromosome 19.
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.
Dynamin 2 (DNM2) is a GTPase that uses energy from GTP hydrolysis to mediate vesicle scission during endocytosis and filament remodeling in the actin cytoskeleton. It plays a vital role in vesicular trafficking processes like clathrin-mediated endocytosis (CME), exocytosis, and macropinocytosis. During vesicular trafficking, it associates with membranes through lipid binding and self-assembles into ring-like structures to form a helical polymer around the vesicle membrane, leading to vesicle scission. DNM2 also plays a role in organizing the actin cytoskeleton by mediating the arrangement of stress fibers and actin bundles. It self-assembles into ring-like structures that directly bundle actin filaments to form membrane tubules, and its GTPase activity is involved in the depolymerization of these structures. Through its interaction with CTTN, it remodels bundled actin filaments and plays a role in orchestrating the actomyosin cytoskeleton. DNM2 is involved in autophagy, participating in the formation of ATG9A vesicles destined for autophagosomes and mediating recycling endosome scission to release autophagosomes. It also regulates the maturation of apoptotic cell corpse-containing phagosomes and plays a role in cytokinesis, centrosome cohesion, neuron morphology, and membrane tubulation.
DNM2 is also known as CMT2M, CMTDI1, CMTDIB, DI-CMTB, DYN2, DYNII, LCCS5.
Associated Diseases
- Charcot-Marie-Tooth disease, dominant intermediate B
- Lethal congenital contracture syndrome 5
- Autosomal dominant centronuclear myopathy
- Centronuclear myopathy 1
- Charcot-Marie-Tooth disease
- Centronuclear myopathy
