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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) Band 19p13.2 Start 10,718,055 bp End 10,833,488 bp
Gene location (Mouse) Chr. Chromosome 9 (mouse) Band 9 A3|9 7.79 cM Start 21,336,204 bp End 21,419,055 bp
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 1785 13430 Ensembl ENSG00000079805 ENSMUSG00000033335 UniProt P50570 P39054 RefSeq (mRNA) NM_004945 NM_001005360 NM_001005361 NM_001005362 NM_001190716 NM_001039520 NM_001253893 NM_001253894 NM_007871 NM_001357718 NM_001357719 NM_001357721 RefSeq (protein) NP_001005360 NP_001005361 NP_001005362 NP_001177645 NP_004936 NP_001034609 NP_001240822 NP_001240823 NP_031897 NP_001344647 NP_001344648 NP_001344650 Location (UCSC) Chr 19: 10.72 – 10.83 Mb Chr 9: 21.34 – 21.42 Mb PubMed search
Wikidata
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Dynamin-2 is a protein that in humans is encoded by the DNM2 gene.

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.

Interactions

DNM2 has been shown to interact with:

• SHANK1,
• SHANK2, and
• SNX9.

Clinical relevance

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

References

1. ^ GRCh38: Ensembl release 89: ENSG00000079805 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000033335 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "Entrez Gene: DNM2 dynamin 2".
8. ^ 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.
9. 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.
10. 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.
11. Jungbluth H (2014). "Pathogenic mechanisms in centronuclear myopathies". Front Aging Neurosci. 6: 339. doi:10.3389/fnagi.2014.00339. PMC 4271577. PMID 25566070.

Further reading

• Sever S (2003). "Dynamin and endocytosis". Curr. Opin. Cell Biol. 14 (4): 463–7. doi:10.1016/S0955-0674(02)00347-2. PMID 12383797.
• Wiejak J, Wyroba E (2003). "Dynamin: characteristics, mechanism of action and function". Cell. Mol. Biol. Lett. 7 (4): 1073–80. PMID 12511974.
• Orth JD, McNiven MA (2003). "Dynamin at the actin-membrane interface". Curr. Opin. Cell Biol. 15 (1): 31–9. doi:10.1016/S0955-0674(02)00010-8. PMID 12517701.
• Kasai K, Shin HW, Shinotsuka C, et al. (1999). "Dynamin II is involved in endocytosis but not in the formation of transport vesicles from the trans-Golgi network". J. Biochem. 125 (4): 780–9. doi:10.1093/oxfordjournals.jbchem.a022349. PMID 10101292.
• Vila-Coro AJ, Mellado M, Martín de Ana A, et al. (1999). "Characterization of RANTES- and aminooxypentane-RANTES-triggered desensitization signals reveals differences in recruitment of the G protein-coupled receptor complex". J. Immunol. 163 (6): 3037–44. doi:10.4049/jimmunol.163.6.3037. PMID 10477567.
• Fish KN, Schmid SL, Damke H (2000). "Evidence that dynamin-2 functions as a signal-transducing GTPase". J. Cell Biol. 150 (1): 145–54. doi:10.1083/jcb.150.1.145. PMC 2185575. PMID 10893263.
• Salcini AE, Hilliard MA, Croce A, et al. (2001). "The Eps15 C. elegans homologue EHS-1 is implicated in synaptic vesicle recycling". Nat. Cell Biol. 3 (8): 755–60. doi:10.1038/35087075. PMID 11483962. S2CID 975746.
• Wan KF, Sambi BS, Frame M, et al. (2001). "The inhibitory gamma subunit of the type 6 retinal cyclic guanosine monophosphate phosphodiesterase is a novel intermediate regulating p42/p44 mitogen-activated protein kinase signaling in human embryonic kidney 293 cells". J. Biol. Chem. 276 (41): 37802–8. doi:10.1074/jbc.M105087200. PMID 11502744.
• Kennerson ML, Zhu D, Gardner RJ, et al. (2001). "Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2". Am. J. Hum. Genet. 69 (4): 883–8. doi:10.1086/323743. PMC 1226074. PMID 11533912.
• Okamoto PM, Gamby C, Wells D, et al. (2002). "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.
• Lee E, De Camilli P (2002). "Dynamin at actin tails". Proc. Natl. Acad. Sci. U.S.A. 99 (1): 161–6. doi:10.1073/pnas.012607799. PMC 117532. PMID 11782545.
• Scott MP, Zappacosta F, Kim EY, et al. (2002). "Identification of novel SH3 domain ligands for the Src family kinase Hck. Wiskott-Aldrich syndrome protein (WASP), WASP-interacting protein (WIP), and ELMO1". J. Biol. Chem. 277 (31): 28238–46. doi:10.1074/jbc.M202783200. PMID 12029088. S2CID 45563411.
• Schafer DA, Weed SA, Binns D, et al. (2003). "Dynamin2 and cortactin regulate actin assembly and filament organization". Curr. Biol. 12 (21): 1852–7. doi:10.1016/S0960-9822(02)01228-9. PMC 9590655. PMID 12419186. S2CID 7363545.
• Modregger J, Schmidt AA, Ritter B, et al. (2003). "Characterization of Endophilin B1b, a brain-specific membrane-associated lysophosphatidic acid acyl transferase with properties distinct from endophilin A1". J. Biol. Chem. 278 (6): 4160–7. doi:10.1074/jbc.M208568200. PMID 12456676. S2CID 7783586.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Speer MC, Graham FL, Bonner E, et al. (2003). "Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot-Marie-Tooth neuropathy to D19S586 to D19S432". Neurogenetics. 4 (2): 83–5. doi:10.1007/s10048-002-0139-3. PMID 12481986. S2CID 19120964.
• Aniko G (2015). "The coexistence of dynamin 2 mutation and multiple mitochondrial DNA (mtDNA) deletions in the background of severe cardiomyopathy and centronuclear myopathy" (PDF). Clinical Neuropathology. 32 (2): 89–95. doi:10.5414/NP300789. PMID 25492887.

External links

• GeneReviews/NIH/NCBI/UW entry on DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy or AD Charcot-Marie-Tooth Disease Type 2B
• HGNC Approved Gene Symbol: DNM2, Cytogenetic location: 19p13.2, Genomic coordinates (GRCh38): 19:10,718,052-10,831,909 (from NCBI)

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