DNM2

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DNM2
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases DNM2, CMT2M, CMTDI1, CMTDIB, DI-CMTB, DYN2, DYNII, LCCS5, dynamin 2
External IDs MGI: 109547 HomoloGene: 90883 GeneCards: DNM2
Gene location (Human)
Chromosome 19 (human)
Chr. Chromosome 19 (human)[1]
Chromosome 19 (human)
Genomic location for DNM2
Genomic location for DNM2
Band 19p13.2 Start 10,718,079 bp[1]
End 10,833,488 bp[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004945
NM_001005360
NM_001005361
NM_001005362
NM_001190716

NM_001039520
NM_001253893
NM_001253894
NM_007871

RefSeq (protein)

NP_001005360
NP_001005361
NP_001005362
NP_001177645
NP_004936

NP_001034609
NP_001240822
NP_001240823
NP_031897

Location (UCSC) Chr 19: 10.72 – 10.83 Mb Chr 19: 21.42 – 21.51 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[edit]

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[edit]

DNM2 has been shown to interact with:

Clinical relevance[edit]

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

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000079805 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000033335 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  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. PMID 7590285. doi:10.1016/0378-1119(95)00275-B. 
  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. PMID 9143510. doi:10.1006/geno.1997.4634. 
  7. ^ "Entrez Gene: DNM2 dynamin 2". 
  8. ^ 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. PMC 2715172Freely accessible. PMID 11583995. doi:10.1074/jbc.M104927200. 
  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. PMID 12952949. doi:10.1074/jbc.M307334200. 
  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. PMC 3267575Freely accessible. PMID 22237106. doi:10.1038/nature10725. 
  11. ^ Jungbluth, H (2014). "Pathogenic mechanisms in centronuclear myopathies.". Front Aging Neurosci. 6: 339. PMC 4271577Freely accessible. PMID 25566070. doi:10.3389/fnagi.2014.00339. 

Further reading[edit]

External links[edit]