DNM2 gene

GPTKB entity

Statements (50)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alias CMT2M
CMTDIB
DNMII
dynamin II
gptkbp:alternativeSplicing yes
gptkbp:associatedWith gptkb:hereditary_spastic_paraplegia
gptkb:centronuclear_myopathy
Charcot-Marie-Tooth disease type 2M
gptkbp:biologicalProcess GTP binding
cell division
cytoskeleton organization
endocytosis
vesicle-mediated transport
microtubule binding
gptkbp:discoveredIn 1997
gptkbp:encodes dynamin-2
gptkbp:Entrez_Gene_ID 1759
ENSG00000137768
gptkbp:expressedIn ubiquitous
gptkbp:fullName dynamin 2
gptkbp:function GTPase activity
endocytosis
membrane trafficking
gptkbp:geneType protein-coding
gptkbp:HGNC_ID 2974
https://www.w3.org/2000/01/rdf-schema#label DNM2 gene
gptkbp:interactsWith gptkb:BIN1
gptkb:endophilin
SH3GL1
gptkbp:length 26 exons
gptkbp:locatedOnChromosome 12
12q13.3
gptkbp:mutationAssociatedWith nonsense
missense
splice site
gptkbp:OMIM 602378
gptkbp:organism gptkb:Homo_sapiens
gptkbp:orthologInMouse Dnm2
gptkbp:pathway clathrin-mediated endocytosis
membrane fission
gptkbp:proteinFamily gptkb:dynamin_family
gptkbp:regulates phosphorylation
alternative splicing
gptkbp:subcellularLocation gptkb:Golgi_apparatus
gptkb:cytoplasm
gptkb:plasma_membrane
gptkbp:UniProtID gptkb:O00499
gptkbp:bfsParent gptkb:Dynamin
gptkbp:bfsLayer 6