Dynamin 2 (DNM2)

CMTDI1; CMTDIB; DYN2; DYNII; Cytoskeletal Protein

SPN	V658
HGNC	2974
MGI	109547
PubMed	19623537
RGD	2513
UniProt	P50570
Wiki	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. Four alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined.

Reference

"Isolation of an ubiquitously expressed cDNA encoding human dynamin II, a member of the large GTP-binding protein family."
Gene 163:301-306(1995) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and biology of human chromosome 19."
Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Dynamin isoform-specific interaction with the shank/ProSAP scaffolding proteins of the postsynaptic density and actin cytoskeleton."
J. Biol. Chem. 276:48458-48465(2001) [PubMed] [Europe PMC] [Abstract]

"The large GTPase dynamin associates with the spindle midzone and is required for cytokinesis."
Curr. Biol. 12:2111-2117(2002) [PubMed] [Europe PMC] [Abstract]

"TTP specifically regulates the internalization of the transferrin receptor."
Cell 123:875-888(2005) [PubMed] [Europe PMC] [Abstract]

"NOSTRIN functions as a homotrimeric adaptor protein facilitating internalization of eNOS."
J. Cell Sci. 118:5059-5069(2005) [PubMed] [Europe PMC] [Abstract]

"SNX9 regulates dynamin assembly and is required for efficient clathrin-mediated endocytosis."
Mol. Biol. Cell 16:2058-2067(2005) [PubMed] [Europe PMC] [Abstract]

"Myosin 1E interacts with synaptojanin-1 and dynamin and is involved in endocytosis."
FEBS Lett. 581:644-650(2007) [PubMed] [Europe PMC] [Abstract]

"A novel sorting nexin modulates endocytic trafficking and alpha-secretase cleavage of the amyloid precursor protein."
J. Biol. Chem. 283:14257-14268(2008) [PubMed] [Europe PMC] [Abstract]

"The PCH family member proline-serine-threonine phosphatase-interacting protein 1 targets to the leukocyte uropod and regulates directed cell migration."
Mol. Biol. Cell 19:3180-3191(2008) [PubMed] [Europe PMC] [Abstract]

"A quantitative atlas of mitotic phosphorylation."
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]

"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]

"Lysine acetylation targets protein complexes and co-regulates major cellular functions."
Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]

"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Solution structure of the PH domain of dynamin-2 from human."
Submitted (APR-2008) to the PDB data bank

"Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease."
Nat. Genet. 37:289-294(2005) [PubMed] [Europe PMC] [Abstract]

"Mutations in dynamin 2 cause dominant centronuclear myopathy."
Nat. Genet. 37:1207-1209(2005) [PubMed] [Europe PMC] [Abstract]

"Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset."
Ann. Neurol. 62:666-670(2007) [PubMed] [Europe PMC] [Abstract]

"Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease."
Neurology 69:291-295(2007) [PubMed] [Europe PMC] [Abstract]

"Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation."
Neuromuscul. Disord. 17:955-959(2007) [PubMed] [Europe PMC] [Abstract]

"Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation."
J. Neurol. 255:986-992(2008) [PubMed] [Europe PMC] [Abstract]

"Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis."
Hum. Mutat. 30:1419-1427(2009) [PubMed] [Europe PMC] [Abstract]

"A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation."
Neurology 72:93-95(2009) [PubMed] [Europe PMC] [Abstract]

"Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation."
Neuromuscul. Disord. 20:49-52(2010) [PubMed] [Europe PMC] [Abstract]

"Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset."
Neuromuscul. Disord. 20:53-56(2010) [PubMed] [Europe PMC] [Abstract]

"Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy."
Neuromuscul. Disord. 20:229-237(2010) [PubMed] [Europe PMC] [Abstract]

"Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy."
Hum. Mutat. 33:949-959(2012) [PubMed] [Europe PMC] [Abstract]

"Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome."
Eur. J. Hum. Genet. 21:637-642(2013) [PubMed] [Europe PMC] [Abstract]