DNM2

Last updated

DNM2
DNM2 protein.png
Available structures
PDB Ortholog search: PDBe RCSB
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
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004945
NM_001005360
NM_001005361
NM_001005362
NM_001190716

Contents

RefSeq (protein)

NP_001005360
NP_001005361
NP_001005362
NP_001177645
NP_004936

Location (UCSC) Chr 19: 10.72 – 10.83 Mb Chr 9: 21.34 – 21.42 Mb
PubMed search [3] [4]
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]

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000079805 Ensembl, May 2017
  2. 1 2 3 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. 1 2 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