Statements (60)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
|
| gptkbp:alternativeName |
gptkb:MFN2
Ras homolog gene family member V |
| gptkbp:associatedWith |
gptkb:Charcot-Marie-Tooth_disease_type_2A
|
| gptkbp:biologicalProcess |
cell proliferation
autophagy apoptotic process mitochondrial organization |
| gptkbp:cellularComponent |
gptkb:endoplasmic_reticulum
mitochondrion |
| gptkbp:discoveredBy |
2001
|
| gptkbp:encodedBy |
MFN2 gene
|
| gptkbp:Entrez_Gene_ID |
ENSG00000118579
GC01M014874 |
| gptkbp:expressedIn |
gptkb:skeletal_muscle
gptkb:nervous_system heart |
| gptkbp:function |
mitochondrial fusion
regulation of mitochondrial morphology mitochondria-ER tethering mitochondrial tethering |
| gptkbp:gene |
gptkb:MFN2
|
| gptkbp:HGNC_ID |
HGNC:16443
|
| https://www.w3.org/2000/01/rdf-schema#label |
Mitofusin-2
|
| gptkbp:interactsWith |
gptkb:OPA1
Mitofusin-1 |
| gptkbp:locatedIn |
outer mitochondrial membrane
|
| gptkbp:locatedOnChromosome |
gptkb:1p36.22
|
| gptkbp:molecularWeight |
86 kDa
|
| gptkbp:mutationAssociatedWith |
missense mutation
peripheral neuropathy axonal degeneration nonsense mutation frameshift mutation splice site mutation |
| gptkbp:OMIM |
608507
|
| gptkbp:orthologInMouse |
gptkb:Mfn2
|
| gptkbp:PDB |
6JFK
6JFL |
| gptkbp:RefSeq |
NM_014874
|
| gptkbp:regulates |
cell differentiation
lipid metabolism angiogenesis oxidative phosphorylation insulin signaling cell death mitochondrial quality control mitophagy calcium signaling mitochondrial metabolism cellular energy homeostasis endoplasmic reticulum stress response reactive oxygen species production mitochondrial trafficking |
| gptkbp:structure |
transmembrane domain
GTPase domain coiled-coil domain |
| gptkbp:UniProtID |
O95140
|
| gptkbp:bfsParent |
gptkb:MFN2
|
| gptkbp:bfsLayer |
7
|