Aliases for MFN2 Gene
External Ids for MFN2 Gene
Previous GeneCards Identifiers for MFN2 Gene
This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
GeneCards Summary for MFN2 Gene
MFN2 (Mitofusin 2) is a Protein Coding gene. Diseases associated with MFN2 include Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy and Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2a. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Mitophagy - animal. Gene Ontology (GO) annotations related to this gene include GTP binding and ubiquitin protein ligase binding. An important paralog of this gene is MFN1.
UniProtKB/Swiss-Prot Summary for MFN2 Gene
Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion (PubMed:11181170, PubMed:11950885, PubMed:28114303). Mitochondria are highly dynamic organelles, and their morphology is determined by the equilibrium between mitochondrial fusion and fission events (PubMed:28114303). Overexpression induces the formation of mitochondrial networks (PubMed:28114303). Membrane clustering requires GTPase activity and may involve a major rearrangement of the coiled coil domains (Probable). Plays a central role in mitochondrial metabolism and may be associated with obesity and/or apoptosis processes (By similarity). Plays an important role in the regulation of vascular smooth muscle cell proliferation (By similarity). Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy) (PubMed:23620051). Is required for PRKN recruitment to dysfunctional mitochondria (PubMed:23620051). Involved in the control of unfolded protein response (UPR) upon ER stress including activation of apoptosis and autophagy during ER stress (By similarity). Acts as an upstream regulator of EIF2AK3 and suppresses EIF2AK3 activation under basal conditions (By similarity).