DNM2

Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have been implicated in cell processes such as endocytosis and cell motility, and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts. Dynamins bind many proteins that bind actin and other cytoskeletal proteins. Dynamins can also self-assemble, a process that stimulates GTPase activity. Five alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined. [provided by RefSeq, Jun 2010]

Dynamin 2

Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Plays a role in the regulation of neuron morphology, axon growth and formation of neuronal growth cones (By similarity).

Plays an important role in vesicular trafficking processes, in particular endocytosis (PubMed:33713620).

Involved in cytokinesis (PubMed:12498685).

Regulates maturation of apoptotic cell corpse-containing phagosomes by recruiting PIK3C3 to the phagosome membrane (By similarity).

Antigen processing and presentation of exogenous peptide antigen via MHC class II Source: Reactome
Cellular response to carbon monoxide Source: Ensembl
Cellular response to dopamine Source: Ensembl
Cellular response to nitric oxide Source: Ensembl
Cellular response to X-ray Source: Ensembl
Dynamin family protein polymerization involved in mitochondrial fission Source: GO_Central
Endocytosis Source: UniProtKB
G2/M transition of mitotic cell cycle Source: UniProtKB
Golgi to plasma membrane transport Source: Ensembl
G protein-coupled receptor internalization Source: Ensembl
Macropinocytosis Source: Ensembl
Membrane fusion Source: GO_Central
Membrane organization Source: Reactome
Mitochondrial fission Source: GO_Central
Negative regulation of membrane tubulation Source: UniProtKB
Negative regulation of non-motile cilium assembly Source: Ensembl
Negative regulation of transforming growth factor beta receptor signaling pathway Source: Ensembl
Neuron projection morphogenesis Source: UniProtKB
Phagocytosis Source: UniProtKB-KW
Positive regulation of apoptotic process Source: UniProtKB
Positive regulation of clathrin-dependent endocytosis Source: Ensembl
Positive regulation of lamellipodium assembly Source: Ensembl
Positive regulation of nitric oxide biosynthetic process Source: Ensembl
Positive regulation of phagocytosis Source: Ensembl
Positive regulation of P-type sodium:potassium-exchanging transporter activity Source: Ensembl
Positive regulation of substrate adhesion-dependent cell spreading Source: Ensembl
Positive regulation of transcription, DNA-templated Source: UniProtKB
Post-Golgi vesicle-mediated transport Source: Reactome
Postsynaptic neurotransmitter receptor internalization Source: GO_Central
Receptor internalization Source: BHF-UCL
Receptor-mediated endocytosis Source: UniProtKB
Regulation of axon extension Source: UniProtKB
Regulation of Golgi organization Source: Ensembl
Regulation of Rac protein signal transduction Source: Ensembl
Regulation of synapse structure or activity Source: GO_Central
Regulation of transcription, DNA-templated Source: UniProtKB
Response to cocaine Source: Ensembl
Response to light stimulus Source: Ensembl
Signal transduction Source: UniProtKB
Spermatogenesis Source: Ensembl
Synaptic vesicle budding from presynaptic endocytic zone membrane Source: GO_Central
Synaptic vesicle transport Source: UniProtKB
Transferrin transport Source: BHF-UCL

Cytoskeleton; Cytoplasm; Cell junction; Clathrin-coated pit; Postsynaptic density; Synapse; Midbody; Phagocytic cup; Phagosome membrane. Colocalizes with CTTN at the basis of filopodia in hippocampus neuron growth zones (By similarity). Microtubule-associated. Also found in the postsynaptic density of neuronal cells. Co-localizes with PIK3C3 and RAB5A to the nascent phagosome (By similarity).

Myopathy, centronuclear, 1 (CNM1):
A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers.
Lethal congenital contracture syndrome 5 (LCCS5):
A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.
Charcot-Marie-Tooth disease, dominant, intermediate type, B (CMTDIB):
A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type B is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.
Charcot-Marie-Tooth disease 2M (CMT2M):
An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

Phosphorylation at Ser-764 by CDK1 is greatly increased upon mitotic entry. It regulates cytokinesis downstream of calcineurin, and does not affect clathrin-mediated endocytosis. Dephosphorylated by calcineurin/PP2 (By similarity). Phosphorylated on tyrosine residues after activation of SRC (By similarity).