|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:CMT2A
gptkb:Mitofusin-2
gptkb:Ras_p21_protein_activator_2
|
|
gptkbp:discoveredBy
|
Santel A et al.
|
|
gptkbp:discoveredIn
|
2001
|
|
gptkbp:encodes
|
gptkb:Mitofusin-2_protein
|
|
gptkbp:Entrez_Gene_ID
|
9927
ENSG00000116688
|
|
gptkbp:expressedIn
|
ubiquitous tissues
|
|
gptkbp:fullName
|
gptkb:Mitofusin_2
|
|
gptkbp:function
|
mitochondrial fusion
regulation of mitochondrial morphology
mitochondria-ER tethering
mitochondrial trafficking
|
|
gptkbp:HGNC_ID
|
HGNC:7373
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
MFN2
|
|
gptkbp:interactsWith
|
gptkb:MFN1
gptkb:OPA1
|
|
gptkbp:locatedOnChromosome
|
gptkb:1p36.22
|
|
gptkbp:mutationAssociatedWith
|
gptkb:Charcot-Marie-Tooth_disease_type_2A
gptkb:hereditary_spastic_paraplegia
|
|
gptkbp:OMIM
|
608507
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Mfn2
|
|
gptkbp:proteinFamily
|
gptkb:mitofusin_family
|
|
gptkbp:subcellularLocation
|
outer mitochondrial membrane
|
|
gptkbp:UniProtID
|
O95140
|
|
gptkbp:bfsParent
|
gptkb:Charcot-Marie-Tooth_disease
|
|
gptkbp:bfsLayer
|
6
|