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: 864.34   (req: < 5)

Gene RIFs: 158   (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: 864.34   (req: >= 5)

Gene RIFs: 158   (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

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

Related Tools

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (202)

Explore Interacting Targets

1 – 10 of 202

• See Interactions on String-DB

MFN1

Tbio

Novelty:  0.00372574

p_int:  0.99999989

p_ni:  1.08e-7

p_wrong:  2e-9

Score:  0.947

Data Source:  BioPlex,STRINGDB

REEP5

Tbio

Novelty:  0.00160455

p_int:  0.99999968

p_ni:  3.18e-7

p_wrong:  1e-9

Score:  0.279

Data Source:  BioPlex,STRINGDB

GHITM

Tbio

Novelty:  0.00360652

p_int:  0.999999666

p_ni:  3.34e-7

Score:  0.458

Data Source:  BioPlex,STRINGDB

MARCH5

Tbio

Family:  Epigenetic

Novelty:  0.02702094

p_int:  0.999634738

p_ni:  0.00036522

p_wrong:  4.1e-8

Score:  0.916

Data Source:  BioPlex,STRINGDB

THY1

Tbio

Novelty:  0.00032846

p_int:  0.991002024

p_ni:  0.008620313

p_wrong:  0.000377663

Data Source:  BioPlex

VSIG1

Tbio

Novelty:  0.15442611

p_int:  0.970657573

p_ni:  0.022456243

p_wrong:  0.006886184

Score:  0.222

Data Source:  BioPlex,STRINGDB

PINK1

Tbio

Family:  Kinase

Novelty:  0.00100973

Score:  0.997

Data Source:  STRINGDB

PRKN

Tbio

Family:  Enzyme

Novelty:  0.00079898

Score:  0.99

Data Source:  STRINGDB

VDAC1

Tbio

Novelty:  0.0011441

Score:  0.978

Data Source:  STRINGDB

DNM1L

Tchem

Novelty:  0.00151314

Score:  0.975

Data Source:  STRINGDB

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (9)

Reactome (7)

KEGG (2)

Autophagy (R-HSA-9612973)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Autophagy	109 targets	R-HSA-9612973
Reactome	Cellular responses to external stimuli	487 targets	R-HSA-8953897
Reactome	Factors involved in megakaryocyte development and platelet production	139 targets	R-HSA-983231
Reactome	Hemostasis	666 targets	R-HSA-109582
Reactome	Macroautophagy	90 targets	R-HSA-1632852

Name	Explore in Pharos	Explore in Source
Autophagy	109 targets	R-HSA-9612973
Cellular responses to external stimuli	487 targets	R-HSA-8953897
Factors involved in megakaryocyte development and platelet production	139 targets	R-HSA-983231
Hemostasis	666 targets	R-HSA-109582
Macroautophagy	90 targets	R-HSA-1632852

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (26)

Functions (3)

Components (6)

Processes (17)

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1 – 3 of 3

GO Term	Evidence	Assigned by
ubiquitin protein ligase binding	Inferred from Physical Interaction (IPI)	UniProtKB
GTPase activity	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
GTP binding	Inferred from Electronic Annotation (IEA)	UniProtKB-KW

Disease Associations ()

No disease associations found

GWAS Traits (16)

• Explore on Target Illumination GWAS Analytics (TIGA)

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1 – 5 of 16

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
platelet count	EFO_0004309	4	4	3	2.2	97.7
platelet crit	EFO_0007985	2	2	2		95
eosinophil percentage of leukocytes	EFO_0007991	2	2	3		72.6
mitochondrial DNA measurement	EFO_0006312	1	1	1		63.7
homocysteine measurement	EFO_0004578	1	2	2		53.2

• Explore on Target Illumination GWAS Analytics (TIGA)

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
platelet count	EFO_0004309	3	2.2	97.7
platelet crit	EFO_0007985	2		95
eosinophil percentage of leukocytes	EFO_0007991	3		72.6
mitochondrial DNA measurement	EFO_0006312	1		63.7
homocysteine measurement	EFO_0004578	2		53.2

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
Alternative splicing
Apoptosis
Autophagy
Charcot-Marie-Tooth disease
Coiled coil
Complete proteome
Disease mutation
GTP-binding
Hydrolase
Membrane

GWAS Trait Find Similar Targets

No Header	No Header
allergic rhinitis
Eczema
eosinophil count
eosinophil percentage of granulocytes
eosinophil percentage of leukocytes
folic acid measurement
homocysteine measurement
hypertension
mitochondrial DNA measurement
Moyamoya disease

MGI Phenotype Find Similar Targets

No Header	No Header
behavior/neurological phenotype
cardiovascular system phenotype
cellular phenotype
embryo phenotype
growth/size/body region phenotype
homeostasis/metabolism phenotype
limbs/digits/tail phenotype
mortality/aging
muscle phenotype
nervous system phenotype

IDG Resources

No IDG generated resources found

Orthologs (11)

1 – 5 of 11

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	mitofusin 2	VGNC:1318	457958
Mouse	mitofusin 2	MGI:2442230	170731
Rat	mitofusin 2	RGD:628843	64476
Dog	mitofusin 2	VGNC:43193	487439
Horse	mitofusin 2	VGNC:20145	100055966

Species	Name	OMA	EggNOG	Inparanoid
Chimp	mitofusin 2
Mouse	mitofusin 2
Rat	mitofusin 2
Dog	mitofusin 2
Horse	mitofusin 2

Publication Statistics

PubMed Score 864.34

PubMed score by year

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PubTator Score 371.18

PubTator score by year

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Related Publications

Text Mined References (180)

GeneRif Annotations (158)

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PMID	Year	Title