| 释义 |
- Function
- Interactions
- Clinical relevance
- References
- Further reading
- External links
{{Infobox_gene}}Dynamin-2 is a protein that in humans is encoded by the DNM2 gene.[1][2] 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.[3] Interactions DNM2 has been shown to interact with: - SHANK1,[4]
- SHANK2,[4] and
- SNX9.[5]
Clinical relevance Mutations in this gene have been associated to cases of acute lymphoblastic leukaemia,[6] or congenital myopathy (centronuclear type).[7] {{Clear}} References 1. ^{{cite journal | vauthors = Diatloff-Zito C, Gordon AJ, Duchaud E, Merlin G | title = Isolation of an ubiquitously expressed cDNA encoding human dynamin II, a member of the large GTP-binding protein family | journal = Gene | volume = 163 | issue = 2 | pages = 301–6 |date=Nov 1995 | pmid = 7590285 | pmc = | doi =10.1016/0378-1119(95)00275-B }}
2. ^{{cite journal | vauthors = Klocke R, Augustin A, Ronsiek M, Stief A, van der Putten H, Jockusch H | title = Dynamin genes Dnm1 and Dnm2 are located on proximal mouse chromosomes 2 and 9, respectively | journal = Genomics | volume = 41 | issue = 2 | pages = 290–2 |date=Jul 1997 | pmid = 9143510 | pmc = | doi = 10.1006/geno.1997.4634 }}
3. ^{{cite web | title = Entrez Gene: DNM2 dynamin 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1785| accessdate = }}
4. ^1 {{cite journal | date = Dec 2001 | vauthors = Okamoto PM, Gamby C, Wells D, Fallon J, Vallee RB | title = Dynamin isoform-specific interaction with the shank/ProSAP scaffolding proteins of the postsynaptic density and actin cytoskeleton | journal = J. Biol. Chem. | volume = 276 | issue = 51 | pages = 48458–65 | pmid = 11583995 | pmc = 2715172 | doi = 10.1074/jbc.M104927200}}
5. ^{{cite journal | date = Nov 2003 | vauthors = Lundmark R, Carlsson SR | title = Sorting nexin 9 participates in clathrin-mediated endocytosis through interactions with the core components | journal = J. Biol. Chem. | volume = 278 | issue = 47 | pages = 46772–81 | pmid = 12952949 | doi = 10.1074/jbc.M307334200}}
6. ^{{cite journal | vauthors = 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 | title = The genetic basis of early T-cell precursor acute lymphoblastic leukaemia | journal = Nature | volume = 481 | issue = 7380 | pages = 157–63 | year = 2012 | pmid = 22237106 | pmc = 3267575 | doi = 10.1038/nature10725 }}
7. ^{{cite journal|last1=Jungbluth|first1=H|title=Pathogenic mechanisms in centronuclear myopathies.|journal=Front Aging Neurosci|doi=10.3389/fnagi.2014.00339|pmid=25566070|volume=6|year=2014|pages=339|pmc=4271577}}
Further reading {{refbegin|35em}}- {{cite journal | author=Sever S |title=Dynamin and endocytosis. |journal=Curr. Opin. Cell Biol. |volume=14 |issue= 4 |pages= 463–7 |year= 2003 |pmid= 12383797 |doi=10.1016/S0955-0674(02)00347-2 }}
- {{cite journal | vauthors=Wiejak J, Wyroba E |title=Dynamin: characteristics, mechanism of action and function. |journal=Cell. Mol. Biol. Lett. |volume=7 |issue= 4 |pages= 1073–80 |year= 2003 |pmid= 12511974 |doi= }}
- {{cite journal | vauthors=Orth JD, McNiven MA |title=Dynamin at the actin-membrane interface. |journal=Curr. Opin. Cell Biol. |volume=15 |issue= 1 |pages= 31–9 |year= 2003 |pmid= 12517701 |doi=10.1016/S0955-0674(02)00010-8 }}
- {{cite journal | vauthors=Kasai K, Shin HW, Shinotsuka C |title=Dynamin II is involved in endocytosis but not in the formation of transport vesicles from the trans-Golgi network. |journal=J. Biochem. |volume=125 |issue= 4 |pages= 780–9 |year= 1999 |pmid= 10101292 |doi= 10.1093/oxfordjournals.jbchem.a022349|display-authors=etal}}
- {{cite journal | vauthors=Vila-Coro AJ, Mellado M, Martín de Ana A |title=Characterization of RANTES- and aminooxypentane-RANTES-triggered desensitization signals reveals differences in recruitment of the G protein-coupled receptor complex. |journal=J. Immunol. |volume=163 |issue= 6 |pages= 3037–44 |year= 1999 |pmid= 10477567 |doi= |display-authors=etal}}
- {{cite journal | vauthors=Fish KN, Schmid SL, Damke H |title=Evidence that dynamin-2 functions as a signal-transducing GTPase. |journal=J. Cell Biol. |volume=150 |issue= 1 |pages= 145–54 |year= 2000 |pmid= 10893263 |doi=10.1083/jcb.150.1.145 | pmc=2185575 }}
- {{cite journal | vauthors=Salcini AE, Hilliard MA, Croce A |title=The Eps15 C. elegans homologue EHS-1 is implicated in synaptic vesicle recycling. |journal=Nat. Cell Biol. |volume=3 |issue= 8 |pages= 755–60 |year= 2001 |pmid= 11483962 |doi= 10.1038/35087075 |display-authors=etal}}
- {{cite journal | vauthors=Wan KF, Sambi BS, Frame M |title=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. |journal=J. Biol. Chem. |volume=276 |issue= 41 |pages= 37802–8 |year= 2001 |pmid= 11502744 |doi= 10.1074/jbc.M105087200 |display-authors=etal}}
- {{cite journal | vauthors=Kennerson ML, Zhu D, Gardner RJ |title=Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2. |journal=Am. J. Hum. Genet. |volume=69 |issue= 4 |pages= 883–8 |year= 2001 |pmid= 11533912 |doi=10.1086/323743 | pmc=1226074 |display-authors=etal}}
- {{cite journal | vauthors=Okamoto PM, Gamby C, Wells D |title=Dynamin isoform-specific interaction with the shank/ProSAP scaffolding proteins of the postsynaptic density and actin cytoskeleton. |journal=J. Biol. Chem. |volume=276 |issue= 51 |pages= 48458–65 |year= 2002 |pmid= 11583995 |doi= 10.1074/jbc.M104927200 | pmc=2715172 |display-authors=etal}}
- {{cite journal | vauthors=Lee E, De Camilli P |title=Dynamin at actin tails. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 1 |pages= 161–6 |year= 2002 |pmid= 11782545 |doi= 10.1073/pnas.012607799 | pmc=117532 }}
- {{cite journal | vauthors=Scott MP, Zappacosta F, Kim EY |title=Identification of novel SH3 domain ligands for the Src family kinase Hck. Wiskott-Aldrich syndrome protein (WASP), WASP-interacting protein (WIP), and ELMO1. |journal=J. Biol. Chem. |volume=277 |issue= 31 |pages= 28238–46 |year= 2002 |pmid= 12029088 |doi= 10.1074/jbc.M202783200 |display-authors=etal}}
- {{cite journal | vauthors=Schafer DA, Weed SA, Binns D |title=Dynamin2 and cortactin regulate actin assembly and filament organization. |journal=Curr. Biol. |volume=12 |issue= 21 |pages= 1852–7 |year= 2003 |pmid= 12419186 |doi=10.1016/S0960-9822(02)01228-9 |display-authors=etal}}
- {{cite journal | vauthors=Modregger J, Schmidt AA, Ritter B |title=Characterization of Endophilin B1b, a brain-specific membrane-associated lysophosphatidic acid acyl transferase with properties distinct from endophilin A1. |journal=J. Biol. Chem. |volume=278 |issue= 6 |pages= 4160–7 |year= 2003 |pmid= 12456676 |doi= 10.1074/jbc.M208568200 |display-authors=etal}}
- {{cite journal | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
- {{cite journal | vauthors=Speer MC, Graham FL, Bonner E |title=Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot-Marie-Tooth neuropathy to D19S586 to D19S432. |journal=Neurogenetics |volume=4 |issue= 2 |pages= 83–5 |year= 2003 |pmid= 12481986 |doi=10.1007/s10048-002-0139-3 |display-authors=etal}}
- {{cite journal|last1=Aniko|first1=Gal|title=The coexistence of dynamin 2 mutation and multiple mitochondrial DNA (mtDNA) deletions in the background of severe cardiomyopathy and centronuclear myopathy.|journal=Clinical Neuropathology|volume=32.|issue=ISSN 0722–5091|pages=89–95|doi=10.5414/NP300789|pmid=25492887|url=http://real.mtak.hu/29088/|year=2015}}
{{refend}} External links - [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cmt-dib GeneReviews/NIH/NCBI/UW entry on DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy or AD Charcot-Marie-Tooth Disease Type 2B]
{{Vesicular transport proteins}}{{protein-stub}} |