Gene: DNM2

Alternate names for this Gene: CMT2M|CMTDI1|CMTDIB|DI-CMTB|DYN2|DYNII|LCCS5

Gene Summary: 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.2

Description of this Gene: dynamin 2

Type of Gene: protein-coding

rs12459943 in DNM2 gene and Body Height PMID 25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.

rs121909088 in DNM2 gene and CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) PMID 19623537 2009 Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis.

PMID 15731758 2005 Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.

PMID 28676641 2017 Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells.

PMID 16227997 2005 Mutations in dynamin 2 cause dominant centronuclear myopathy.

PMID 20529869 2010 Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers.

PMID 20817456 2010 Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation.

PMID 24016602 2014 A mutation associated with centronuclear myopathy enhances the size and stability of dynamin 2 complexes in cells.

PMID 25492887 2015 The coexistence of dynamin 2 mutation and multiple mitochondrial DNA (mtDNA) deletions in the background of severe cardiomyopathy and centronuclear myopathy.

PMID 22613877 2012 Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2.

PMID 25501959 2015 Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China.

PMID 22096584 2011 Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy.

PMID 22369075 2012 A centronuclear myopathy--dynamin 2 mutation impairs autophagy in mice.

PMID 22396310 2012 Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

PMID 27343996 2016 Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2.

PMID 20858595 2010 A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice.

PMID 21762456 2011 Common membrane trafficking defects of disease-associated dynamin 2 mutations.

PMID 20227276 2010 Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.

PMID 23338057 2013 Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy.

PMID 17008356 2006 A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.

PMID 25957634 2015 Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

PMID 24465259 2014 Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy.

PMID 25262827 2014 N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy.

PMID 26199319 2015 Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation.

PMID 19130742 2009 Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature.

PMID 21221624 2011 Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations.

PMID 20927630 2011 Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.

PMID 23394783 2013 Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort.

PMID 26273216 2015 DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy.

PMID 18560793 2008 Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation.

PMID 17636067 2007 Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease.

PMID 17932957 2007 Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.

PMID 24135484 2014 The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish.

PMID 20700106 2010 Dynamin GTPase regulation is altered by PH domain mutations found in centronuclear myopathy patients.

PMID 19932619 2010 Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset.

PMID 26842864 2016 Zebrafish as a Model to Investigate Dynamin 2-Related Diseases.

PMID 26908122 2016 DNM2 mutations in Chinese Han patients with centronuclear myopathy.

rs199927590 in DNM2 gene and Charcot-Marie-Tooth Disease PMID 25025039 2014 Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

rs11671653 in DNM2 gene and Coronary heart disease PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

rs397514735 in DNM2 gene and LETHAL CONGENITAL CONTRACTURE SYNDROME 5 PMID 23092955 2013 Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.

rs11671653 in DNM2 gene and Low density lipoprotein cholesterol measurement PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs121909089 in DNM2 gene and Myopathy, Centronuclear, 1 PMID 19932620 2010 Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation.

PMID 19623537 2009 Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis.

PMID 19932619 2010 Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset.

PMID 17932957 2007 Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.

PMID 16227997 2005 Mutations in dynamin 2 cause dominant centronuclear myopathy.

PMID 20227276 2010 Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.

PMID 22617344 2012 Clinical utility gene card for: Centronuclear and myotubular myopathies.

PMID 17825552 2007 Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.

PMID 22396310 2012 Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

PMID 19122038 2009 A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 20529869 2010 Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers.

PMID 20858595 2010 A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice.

PMID 22096584 2011 Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy.

rs77581414 in DNM2 gene and Prostate carcinoma PMID 31095341 2020 Radiogenomics Consortium Genome-Wide Association Study Meta-Analysis of Late Toxicity After Prostate Cancer Radiotherapy.

rs113084827 in DNM2 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs113084827 in DNM2 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1610095 in DNM2 gene and Serum total cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs143928955 in DNM2 gene and Venous Thromboembolism PMID 31420334 2019 Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.