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MFN2

GENERAL INFORMATION

Gene name

 MFN2

Gene description

 Mitofusin 2

Protein class

 Disease related genes
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Transporters

Predicted localization

 Intracellular,Membrane

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Expressed in all
HPA (cell line):Expressed in all
HPA (normal tissue):Expressed in all

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Mainly cytoplasmic expression in most tissues.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data.

Reliability score

 Uncertain based on 1 antibody.
HPA030554
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PROGNOSTIC SUMMARY
Prognostic marker in renal cancer (favourable).
Renal cancer p<0.001
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Expressed in all

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA030554

GENE INFORMATION

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

Cytoband

 p36.22

Chromosome location (bp)

 11980181 - 12013514

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000116688 (version 83.38)

Entrez gene

 9927

UniProt

 O95140 (UniProt - Evidence at protein level)

neXtProt

 NX_O95140

Antibodypedia

 MFN2 antibodies

PROTEIN BROWSER
MFN2-001
MFN2-005
MFN2-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
MFN2-001
ENSP00000235329
ENST00000235329
O95140 [Direct mapping]
Mitofusin-2
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Transporters
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000423 [macromitophagy]
GO:0001825 [blastocyst formation]
GO:0003924 [GTPase activity]
GO:0005515 [protein binding]
GO:0005525 [GTP binding]
GO:0005739 [mitochondrion]
GO:0005741 [mitochondrial outer membrane]
GO:0005829 [cytosol]
GO:0006626 [protein targeting to mitochondrion]
GO:0006915 [apoptotic process]
GO:0006986 [response to unfolded protein]
GO:0007006 [mitochondrial membrane organization]
GO:0007596 [blood coagulation]
GO:0008053 [mitochondrial fusion]
GO:0015630 [microtubule cytoskeleton]
GO:0016021 [integral component of membrane]
GO:0016236 [macroautophagy]
GO:0031306 [intrinsic component of mitochondrial outer membrane]
GO:0031625 [ubiquitin protein ligase binding]
GO:0034497 [protein localization to pre-autophagosomal structure]
GO:0046580 [negative regulation of Ras protein signal transduction]
GO:0048593 [camera-type eye morphogenesis]
GO:0048662 [negative regulation of smooth muscle cell proliferation]
GO:0051646 [mitochondrion localization]
Show all
 757 aa
86.4 kDa 		No 1
MFN2-005
ENSP00000412023
ENST00000412236
Q5JXC5 [Direct mapping]
Mitofusin-2
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005739 [mitochondrion]
GO:0008053 [mitochondrial fusion]
GO:0008152 [metabolic process]
GO:0016021 [integral component of membrane]
GO:0048662 [negative regulation of smooth muscle cell proliferation]
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 98 aa
11.2 kDa 		No 0
MFN2-201
ENSP00000416338
ENST00000444836
O95140 [Direct mapping]
Mitofusin-2
Show all
Transporters
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000423 [macromitophagy]
GO:0003924 [GTPase activity]
GO:0005515 [protein binding]
GO:0005525 [GTP binding]
GO:0005739 [mitochondrion]
GO:0005741 [mitochondrial outer membrane]
GO:0005829 [cytosol]
GO:0006626 [protein targeting to mitochondrion]
GO:0006915 [apoptotic process]
GO:0006986 [response to unfolded protein]
GO:0007006 [mitochondrial membrane organization]
GO:0007596 [blood coagulation]
GO:0008053 [mitochondrial fusion]
GO:0016021 [integral component of membrane]
GO:0016236 [macroautophagy]
GO:0031306 [intrinsic component of mitochondrial outer membrane]
GO:0031625 [ubiquitin protein ligase binding]
GO:0034497 [protein localization to pre-autophagosomal structure]
GO:0046580 [negative regulation of Ras protein signal transduction]
GO:0048662 [negative regulation of smooth muscle cell proliferation]
GO:0051646 [mitochondrion localization]
Show all
 757 aa
86.4 kDa 		No 1

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.