Tissue expression of MFN2 - Summary - The Human Protein Atlas

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MFN2

TISSUE

CELL

PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

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 tissue category

HPA:	Expressed in all
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

Protein expression

Mainly cytoplasmic expression in most tissues.

DATA 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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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

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 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: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 Show all	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] Show all	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

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The Human Protein Atlas

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