| Gene Symbol |
MFN2
|
| Entrez Gene |
9927
|
| Alt Symbol |
CMT2A, CMT2A2, CPRP1, HSG, MARF
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
mitofusin 2
|
| Other Description |
hyperplasia suppressor|mitochondrial assembly regulatory factor|mitofusin-2|transmembrane GTPase MFN2
|
| Swissprots |
Q5JXC4 A8K1B3 Q9NSX8 O95140 Q9H131 Q5JXC3 O95572
|
| Accessions |
EAW71726 EAW71727 O95140 AF036536 AAD02058 AI857365 AK001189 BAG50864 AK021947 BAG51062 AK022453 BAG51075 AK289828 BAF82517 AK295890 BAH12214 AL122114 AL137666 CAB70866 AY028429 AAK18728 BC017061 AAH17061 BU178912 D86987 BAA34389 DC401346 DQ894181 ABM85107 EU176270 ABW03721 XM_005263543 XP_005263600 XM_005263545 XP_005263602 XM_005263547 XP_005263604 XM_005263548 XP_005263605 NM_001127660 NP_001121132 NM_014874 NP_055689
|
| Function |
Essential transmembrane GTPase, which mediates mitochondrial fusion. Fusion of mitochondria occurs in many cell types and constitutes an important step in mitochondria morphology, which is balanced between fusion and fission. MFN2 acts independently of the cytoskeleton. It therefore plays a central role in mitochondrial metabolism and may be associated with obesity and/or apoptosis processes. Overexpression induces the formation of mitochondrial networks. Plays an important role in the regulation of vascular smooth muscle cell proliferation. Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy). Is required for PARK2 recruitment to dysfunctional mitochondria. Involved in the control of unfolded protein response (UPR) upon ER stress including activation of apoptosis and autophagy during ER stress. Acts as an upstream regulator of EIF2AK3 and suppresses EIF2AK3 activation under basal conditions. {ECO:0000269|PubMed:11181170, ECO:0000269|PubMed:11950885, EC
|
| Subcellular Location |
Mitochondrion outer membrane {ECO:0000269|PubMed:11181170, ECO:0000269|PubMed:11950885, ECO:0000269|PubMed:12499352, ECO:0000269|PubMed:23620051}; Multi- pass membrane protein {ECO:0000269|PubMed:11181170, ECO:0000269|PubMed:11950885, ECO:0000269|PubMed:12499352, ECO:0000269|PubMed:23620051}. Note=Colocalizes with BAX during apoptosis.
|
| Tissue Specificity |
Ubiquitous; expressed at low level. Highly expressed in heart and kidney. {ECO:0000269|PubMed:11950885, ECO:0000269|PubMed:12759376}.
|