|
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
|
|
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
gptkb:dynamins
|
|
gptkbp:bfsLayer
|
8
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
DNM2 gene
|