2024年12月24日 · DNM2 (Dynamin 2) is a Protein Coding gene. Diseases associated with DNM2 include Myopathy, Centronuclear, 1 and Charcot-Marie-Tooth Disease, Dominant Intermediate B. Among its related pathways are Gap junction trafficking and trans-Golgi Network Vesicle Budding.

Dynamin-2 is a protein that in humans is encoded by the DNM2 gene. [5][6] 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.

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.

2022年11月11日 · Dynamin 2 mechanoenzyme is a key regulator of membrane remodeling and gain-of-function mutations in its gene cause centronuclear myopathies. Here, we investigate the functions of...

During the last two decades, DNM2 involvement, through mutations or overexpression, emerged in an increasing number of cancers and often associated with poor prognosis. A wide panel of DNM2-dependent processes was described in cancer cells which explains DNM2 contribution to cancer pathomechanisms.

DNM2 is a ubiquitously expressed large GTPase involved in clathrin (see 118955)-dependent and -independent endocytosis and intracellular membrane trafficking. DNM2 interacts tightly with actin and microtubule networks and may have a role in centrosome function (summary by Durieux et …

关于 dnm2 Cytogenetic location: 19p13.2 Genomic coordinates (GRCh38): 19:10,718,079-10,831,903 (from NCBI) This gene has 26 transcripts (splice variants), 315 orthologues, 6 paralogues and is associated with 75 phenotypes.

Dynamin 2 (DNM2) belongs to a family of large GTPases that are well known for mediating membrane fission by oligomerizing at the neck of membrane invaginations. Autosomal dominant mutations in the ubiquitously expressed DNM2 cause 2 discrete ...

we report a novel DNM2 mutation in the Pleckstrin homology domain of DNM2 (p.K559del) in a patient with an axonal length-dependent sensorimotor polyneuropathy predominantly affecting the lower limbs. Dynamin 2 gene is a novel susceptibility gene for late-onset Alzheimer disease in non-APOE-epsilon4 carriers.

2024年2月4日 · Clinical resource with information about DNM2, Autosomal dominant centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B, Fetal akinesia-cerebral and retinal hemorrhage syndrome, Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project., Meta-analysis of ...