Tbio MFN2 Mitofusin-2

Protein Summary

Description

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). 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]

Uniprot Accession IDs

• O95140
• A8K1B3
• O95572
• Q5JXC3
• Q5JXC4
• Q9H131
• Q9NSX8

Gene Name

• MFN2

Ensembl ID

• ENST00000235329
• ENSP00000235329
• ENSG00000116688
• ENST00000444836
• ENSP00000416338

Symbol

• CPRP1
• KIAA0214
• HSG
• MARF
• CMT2A
• CPRP1
• CMT2A2
• HMSN6A
• CMT2A2A
• CMT2A2B

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
molecular function	0.95
co-expressed gene	0.93
kinase perturbation	0.93
transcription factor perturbation	0.91
virus perturbation	0.88

Protein Classes

PANTHER Classes

Protein / Hydrolase / Phosphatase / Nucleotide Phosphatase / Mitofusin-2

DTO Classes

Protein / Enzyme / Hydrolase / Phosphatase / Nucleotide Phosphatase / Mitofusin-2

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1040.78   (req: < 5)

Gene RIFs: 237   (req: <= 3)

Antibodies: 643   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1040.78   (req: >= 5)

Gene RIFs: 237   (req: > 3)

Antibodies: 643   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 20

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0