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Protein Page:
MFN2 (human)

Overview
MFN2 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. Defects in MFN2 are the cause of Charcot-Marie-Tooth disease type 2A2 (CMT2A2). CMT2A2 is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT2 group 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. Defects in MFN2 are the cause of Charcot-Marie-Tooth disease type 6 (CMT6); also referred to as autosomal dominant hereditary motor and sensory neuropathy VI (HMSN6). CMT6 is an autosomal dominant form of axonal CMT associated with optic atrophy. Belongs to the mitofusin family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Cell cycle regulation; Cytoskeletal; EC 3.6.5.-; Hydrolase; Membrane protein, integral; Membrane protein, multi-pass; Mitochondrial
Chromosomal Location of Human Ortholog: 1p36.22
Cellular Component: cytosol; intrinsic to mitochondrial outer membrane; mitochondrial outer membrane; mitochondrion
Molecular Function: protein binding; ubiquitin protein ligase binding
Biological Process: blood coagulation; cell cycle arrest; macroautophagy; mitochondrial fusion; mitochondrial membrane organization and biogenesis; mitochondrion localization; negative regulation of Ras protein signal transduction; negative regulation of smooth muscle cell proliferation; protein targeting to mitochondrion
Disease: Charcot-marie-tooth Disease, Axonal, Type 2a2; Neuropathy, Hereditary Motor And Sensory, Type Vi
Reference #:  O95140 (UniProtKB)
Alt. Names/Synonyms: CMT2A; CMT2A2; CPRP1; HSG; hyperplasia suppressor; KIAA0214; MARF; MFN2; mitochondrial assembly regulatory factor; mitofusin 2; Mitofusin-2; Transmembrane GTPase MFN2
Gene Symbols: MFN2
Molecular weight: 86,402 Da
Basal Isoelectric point: 6.52  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
Select Structure to View Below

MFN2

Protein Structure Not Found.


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