Homo sapiens Protein: MFN2 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-369397.4 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | MFN2 | ||||||||||||||||||||||
Protein Name | mitofusin 2 | ||||||||||||||||||||||
Synonyms | CMT2A; CMT2A2; CPRP1; HSG; MARF; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000416338 | ||||||||||||||||||||||
InnateDB Gene | IDBG-89999 (MFN2) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
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:0000269PubMed:11181170, ECO:0000269PubMed:11950885, ECO:0000269PubMed:15322553, ECO:0000269PubMed:23620051, ECO:0000269PubMed:23921378}. | ||||||||||||||||||||||
Subcellular Localization | Mitochondrion outer membrane {ECO:0000269PubMed:11181170, ECO:0000269PubMed:11950885, ECO:0000269PubMed:12499352, ECO:0000269PubMed:23620051}; Multi- pass membrane protein {ECO:0000269PubMed:11181170, ECO:0000269PubMed:11950885, ECO:0000269PubMed:12499352, ECO:0000269PubMed:23620051}. Note=Colocalizes with BAX during apoptosis. | ||||||||||||||||||||||
Disease Associations | Charcot-Marie-Tooth disease 2A2 (CMT2A2) [MIM:609260]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269PubMed:15064763, ECO:0000269PubMed:15549395, ECO:0000269PubMed:22206013}. Note=The disease is caused by mutations affecting the gene represented in this entry.Charcot-Marie-Tooth disease 6 (CMT6) [MIM:601152]: A form of Charcot-Marie-Tooth disease characterized by the association of axonal peripheral neuropathy with optic atrophy. Charcot-Marie- Tooth disease is a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. It is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies and primary peripheral axonal neuropathies. Peripheral axonal neuropathies are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269PubMed:16437557}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Ubiquitous; expressed at low level. Highly expressed in heart and kidney. {ECO:0000269PubMed:11950885, ECO:0000269PubMed:12759376}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR001401
Dynamin, GTPase domain IPR006884 Fzo/mitofusin HR2 domain IPR027417 P-loop containing nucleoside triphosphate hydrolase |
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PFAM |
PF00350
PF04799 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00053
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | O95140 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-O95140 | ||||||||||||||||||||||
TrEMBL | Q5JXC5 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 9927 | ||||||||||||||||||||||
UniGene | Hs.731483 | ||||||||||||||||||||||
RefSeq | NP_001121132 | ||||||||||||||||||||||
HUGO | HGNC:16877 | ||||||||||||||||||||||
OMIM | 608507 | ||||||||||||||||||||||
CCDS | CCDS30587 | ||||||||||||||||||||||
HPRD | 08495 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AF036536 AK289828 AL096840 AL137666 AY028429 BC017061 CH471130 D86987 | ||||||||||||||||||||||
GenPept | AAD02058 AAH17061 AAK18728 BAA34389 BAF82517 CAB70866 CAI19087 CAI19088 EAW71726 | ||||||||||||||||||||||