MFN2

GENE INFORMATION

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Gene name

MFN2 (HGNC Symbol)

Synonyms

CMT2A2, CPRP1, KIAA0214, MARF

Description

mitofusin 2 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

1 (Chromosome progress)

Cytoband

p36.22

Chromosome location (bp)

12040238 - 12073571

Ensembl

ENSG00000116688 (version 73.37)

Entrez gene

9927

UniProt

O95140 (UniProt - Evidence at protein level)

neXtProt

NX_O95140

Antibodypedia

MFN2 antibodies
 

PROTEIN VIEW

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MFN2-001
 
MFN2-005
 
MFN2-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MFN2-001 ENSP00000235329
ENST00000235329
O95140
Show all »
Show » Show » 757 86.4 No 1
MFN2-005 ENSP00000412023
ENST00000412236
Q5JXC5
Show all »
Show » 98 11.2 No 0
MFN2-201 ENSP00000416338
ENST00000444836
O95140
Show all »
Show » Show » 757 86.4 No 1