Statements (48)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
|
| gptkbp:associatedWith |
gptkb:Charcot-Marie-Tooth_disease_type_2A
|
| gptkbp:biologicalProcess |
mitochondrial quality control
mitophagy mitochondrial dynamics mitochondrial trafficking |
| gptkbp:discoveredBy |
2001
|
| gptkbp:function |
mitochondrial fusion
regulation of mitochondrial morphology mitochondria-ER tethering mitochondrial tethering |
| gptkbp:gene |
gptkb:MFN2
|
| gptkbp:gene_location_(human) |
gptkb:chromosome_1p36.22
|
| https://www.w3.org/2000/01/rdf-schema#label |
mitofusin 2
|
| gptkbp:interactsWith |
gptkb:OPA1
mitofusin 1 |
| gptkbp:locatedIn |
outer mitochondrial membrane
|
| gptkbp:molecularWeight |
about 86 kDa
|
| gptkbp:mutationAssociatedWith |
muscle weakness
peripheral neuropathy sensory loss axonal degeneration optic atrophy |
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Mfn2
|
| gptkbp:regulates |
apoptosis
cell proliferation lipid metabolism glucose metabolism oxidative phosphorylation neuronal survival autophagy insulin signaling cell death synaptic function calcium signaling mitochondrial DNA maintenance mitochondrial metabolism reactive oxygen species production axon maintenance endoplasmic reticulum-mitochondria contact mitochondrial network |
| gptkbp:structure |
transmembrane domain
GTPase domain coiled-coil domains |
| gptkbp:UniProtID |
O95140
|
| gptkbp:bfsParent |
gptkb:PARK2_gene
|
| gptkbp:bfsLayer |
7
|