AlphaFold predicted structure
DNM2 · P50570
Mean pLDDT
77.6/ 100
Confident
870 residues
Confidence breakdown
- Very high(≥ 90)40%
- Confident(70–90)36%
- Low(50–70)8%
- Very low(< 50)17%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
DNM2
Chr 19p13.2dynamin 2
- Aliases:
- DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB
- MANE:
- ENST00000389253.9
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Arthrogryposis
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalCongenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDistal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalHereditary neuropathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHereditary neuropathy or pain disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLikely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalMitochondrial disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Disease associations (Open Targets)
autosomal dominant centronuclear myopathy
0.84Charcot-Marie-Tooth disease dominant intermediate B
0.80Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
0.80fetal akinesia-cerebral and retinal hemorrhage syndrome
0.73autosomal dominant Charcot-Marie-Tooth disease type 2M
0.72centronuclear myopathy
0.69Charcot-Marie-Tooth disease
0.59intermediate Charcot-Marie-Tooth disease
0.46neurodegenerative disease
0.45X-linked myotubular myopathy
0.43
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Dynamin-2
Catalyzes the hydrolysis of GTP and utilizes this energy to mediate vesicle scission at plasma membrane during endocytosis and filament remodeling at many actin structures during organization of the actin cytoskeleton (PubMed:15731758, PubMed:19605363, PubMed:19623537, PubMed:33713620, PubMed:34744632). Plays an important role in vesicular trafficking processes, namely clathrin-mediated endocytosis (CME), exocytic and clathrin-coated vesicle from the trans-Golgi network, and PDGF stimulated macropinocytosis (PubMed:15731758, PubMed:19623537, PubMed:33713620). During vesicular trafficking process, associates to the membrane, through lipid binding, and self-assembles into ring-like structure through oligomerization to form a helical polymer around the vesicle membrane and leading to vesicle scission (PubMed:17636067, PubMed:34744632, PubMed:36445308). Plays a role in organization of the actin cytoskeleton by mediating arrangement of stress fibers and actin bundles in podocytes (By similarity). During organization of the actin cytoskeleton, self-assembles into ring-like structure that directly bundles actin filaments to form typical membrane tubules decorated with dynamin spiral polymers (By similarity). Self-assembly increases GTPase activity and the GTP hydrolysis causes the rapid depolymerization of dynamin spiral polymers, and results in dispersion of actin bundles (By similarity). Remodels, through its interaction with CTTN, bundled actin filaments in a GTPase-dependent manner and plays a role in orchestrating the global actomyosin cytoskeleton (PubMed:19605363). The interaction with CTTN stabilizes the interaction of DNM2 and actin filaments and stimulates the intrinsic GTPase activity that results in actin filament-barbed ends and increases the sensitivity of filaments in bundles to the actin depolymerizing factor, CFL1 (By similarity). Plays a role in the autophagy process, by participating in the formation of ATG9A vesicles destined for the autophagosomes through its interaction with SNX18 (PubMed:29437695), by mediating recycling endosome scission leading to autophagosome release through MAP1LC3B interaction (PubMed:29437695, PubMed:32315611). Also regulates maturation of apoptotic cell corpse-containing phagosomes by recruiting PIK3C3 to the phagosome membrane (By similarity). Also plays a role in cytokinesis (By similarity). May participate in centrosome cohesion through its interaction with TUBG1 (By similarity). Plays a role in the regulation of neuron morphology, axon growth and formation of neuronal growth cones (By similarity). Involved in membrane tubulation (PubMed:24135484)
Diseases associated with DNM2
Curated MONDO disease pages that list DNM2 among their top associated genes.