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DNM2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2YS1
Identifiers
Aliases	DNM2, CMT2M, CMTDI1, CMTDIB, DI-CMTB, DYN2, DYNII, LCCS5, dynamin 2
External IDs	OMIM: 602378; MGI: 109547; HomoloGene: 90883; GeneCards: DNM2; OMA:DNM2 - orthologs
Gene location (Human)
Chr.	Chromosome 19 (human)
End	10,833,488 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	21,419,055 bp
RNA expression pattern
	Top expressed in
	granulocyte; ; mucosa of transverse colon; ; skin of leg; ; right lung; ; upper lobe of left lung; ; rectum; ; skin of abdomen; ; body of stomach; ; apex of heart; ; gastric mucosa;
	Top expressed in
	granulocyte; ; renal corpuscle; ; ankle joint; ; lip; ; ascending aorta; ; tail of embryo; ; aortic valve; ; medullary collecting duct; ; endocardial cushion; ; secondary oocyte;
	More reference expression data
	n/a
Gene ontology
Molecular function	nucleotide binding; nitric-oxide synthase binding; SH3 domain binding; phosphatidylinositol 3-kinase regulatory subunit binding; D2 dopamine receptor binding; GTP binding; protein binding; WW domain binding; protein-containing complex binding; enzyme binding; hydrolase activity; protein kinase binding; GTPase activity; microtubule binding;
Cellular component	endocytic vesicle membrane; cytosol; endosome; centrosome; Golgi apparatus; postsynaptic membrane; membrane; postsynaptic density; focal adhesion; photoreceptor inner segment; clathrin-coated endocytic vesicle; Golgi membrane; plasma membrane; synapse; ruffle membrane; cell junction; trans-Golgi network; midbody; growth cone; perinuclear region of cytoplasm; clathrin-coated pit; phagocytic cup; microtubule; extracellular exosome; cytoskeleton; nucleus; lamellipodium; cell projection; cytoplasmic vesicle; phagocytic vesicle membrane; cytoplasm; mitochondrial membranes; axon; protein-containing complex; dendritic spine; dendritic spine head; presynapse; postsynaptic endocytic zone membrane; glutamatergic synapse; postsynaptic density, intracellular component;
Biological process	negative regulation of membrane tubulation; G protein-coupled receptor internalization; positive regulation of phagocytosis; neuron projection morphogenesis; regulation of transcription, DNA-templated; endocytosis; regulation of axon extension; ventricular septum development; antigen processing and presentation of exogenous peptide antigen via MHC class II; transferrin transport; response to light stimulus; cellular response to X-ray; positive regulation of nitric oxide biosynthetic process; cellular response to dopamine; regulation of nitric-oxide synthase activity; receptor internalization; regulation of Rac protein signal transduction; negative regulation of transforming growth factor beta receptor signaling pathway; receptor-mediated endocytosis; coronary vasculature development; positive regulation of transcription, DNA-templated; positive regulation of P-type sodium:potassium-exchanging transporter activity; aorta development; positive regulation of endocytosis; positive regulation of substrate adhesion-dependent cell spreading; regulation of Golgi organization; G2/M transition of mitotic cell cycle; macropinocytosis; spermatogenesis; positive regulation of apoptotic process; synaptic vesicle transport; cellular response to nitric oxide; positive regulation of lamellipodium assembly; Golgi to plasma membrane transport; cellular response to carbon monoxide; signal transduction; response to cocaine; phagocytosis; mitochondrial fission; dynamin family protein polymerization involved in mitochondrial fission; membrane organization; membrane fusion; negative regulation of non-motile cilium assembly; synaptic vesicle budding from presynaptic endocytic zone membrane; synaptic vesicle endocytosis; regulation of synapse structure or activity; postsynaptic neurotransmitter receptor internalization; positive regulation of clathrin-dependent endocytosis;
	Sources:Amigo / QuickGO
Orthologs
	1785
	13430
	ENSG00000079805
	ENSMUSG00000033335
	P50570
	P39054
	NM_004945; NM_001005360; NM_001005361; NM_001005362; NM_001190716
NM_001039520; NM_001253893; NM_001253894; NM_007871; NM_001357718;
	NM_001357719; NM_001357721
	NP_001005360; NP_001005361; NP_001005362; NP_001177645; NP_004936
NP_001034609; NP_001240822; NP_001240823; NP_031897; NP_001344647;
	NP_001344648; NP_001344650
	Wikidata
View/Edit Human	View/Edit Mouse

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

Function

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.^[7]

Interactions

DNM2 has been shown to interact with:

Clinical relevance

Mutations in this gene have been associated to cases of acute lymphoblastic leukaemia,^[10] or congenital myopathy (centronuclear type).^[11]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000079805 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000033335 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Diatloff-Zito C, Gordon AJ, Duchaud E, Merlin G (Nov 1995). "Isolation of an ubiquitously expressed cDNA encoding human dynamin II, a member of the large GTP-binding protein family". Gene. 163 (2): 301–6. doi:10.1016/0378-1119(95)00275-B. PMID 7590285.
^ Klocke R, Augustin A, Ronsiek M, Stief A, van der Putten H, Jockusch H (Jul 1997). "Dynamin genes Dnm1 and Dnm2 are located on proximal mouse chromosomes 2 and 9, respectively". Genomics. 41 (2): 290–2. doi:10.1006/geno.1997.4634. PMID 9143510.
^ "Entrez Gene: DNM2 dynamin 2".
^ ^a ^b Okamoto PM, Gamby C, Wells D, Fallon J, Vallee RB (Dec 2001). "Dynamin isoform-specific interaction with the shank/ProSAP scaffolding proteins of the postsynaptic density and actin cytoskeleton". J. Biol. Chem. 276 (51): 48458–65. doi:10.1074/jbc.M104927200. PMC 2715172. PMID 11583995.
^ Lundmark R, Carlsson SR (Nov 2003). "Sorting nexin 9 participates in clathrin-mediated endocytosis through interactions with the core components". J. Biol. Chem. 278 (47): 46772–81. doi:10.1074/jbc.M307334200. PMID 12952949. S2CID 19544862.
^ Zhang J, Ding L, Holmfeldt L, Wu G, Heatley SL, Payne-Turner D, Easton J, Chen X, Wang J, Rusch M, Lu C, Chen SC, Wei L, Collins-Underwood JR, Ma J, Roberts KG, Pounds SB, Ulyanov A, Becksfort J, Gupta P, Huether R, Kriwacki RW, Parker M, McGoldrick DJ, Zhao D, Alford D, Espy S, Bobba KC, Song G, Pei D, Cheng C, Roberts S, Barbato MI, Campana D, Coustan-Smith E, Shurtleff SA, Raimondi SC, Kleppe M, Cools J, Shimano KA, Hermiston ML, Doulatov S, Eppert K, Laurenti E, Notta F, Dick JE, Basso G, Hunger SP, Loh ML, Devidas M, Wood B, Winter S, Dunsmore KP, Fulton RS, Fulton LL, Hong X, Harris CC, Dooling DJ, Ochoa K, Johnson KJ, Obenauer JC, Evans WE, Pui CH, Naeve CW, Ley TJ, Mardis ER, Wilson RK, Downing JR, Mullighan CG (2012). "The genetic basis of early T-cell precursor acute lymphoblastic leukaemia". Nature. 481 (7380): 157–63. Bibcode:2012Natur.481..157Z. doi:10.1038/nature10725. PMC 3267575. PMID 22237106.
^ Jungbluth H (2014). "Pathogenic mechanisms in centronuclear myopathies". Front Aging Neurosci. 6: 339. doi:10.3389/fnagi.2014.00339. PMC 4271577. PMID 25566070.