Mfn2 mitofusin 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mfn2provided by MGI
Official Full Name: mitofusin 2provided by MGI
Primary source: MGI:MGI:2442230
See related: Ensembl:ENSMUSG00000029020 AllianceGenome:MGI:2442230
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Fzo; D630023P19Rik
Summary: Predicted to enable several functions, including GTP binding activity; GTPase activity; and enzyme binding activity. Involved in mitochondrial fusion; positive regulation of cold-induced thermogenesis; and type 2 mitophagy. Acts upstream of or within blastocyst formation and camera-type eye morphogenesis. Located in microtubule cytoskeleton and mitochondrion. Is expressed in several structures, including brain; early conceptus; eye; heart; and oocyte. Used to study Charcot-Marie-Tooth disease type 2A2A. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease type 2A2A; Charcot-Marie-Tooth disease type 2A2B; Charcot-Marie-Tooth disease type 6; and multiple symmetric lipomatosis. Orthologous to human MFN2 (mitofusin 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in heart adult (RPKM 132.4), testis adult (RPKM 47.3) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 E1; 4 78.56 cM

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (147958043..147989527, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (147873586..147904909, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mfn2[R364W], Mfn2[G176S], and Mfn2[H165R] mutations drive Charcot-Marie-Tooth type 2A disease by inducing apoptosis and mitochondrial oxidative phosphorylation damage.
Title: Mfn2(R364W), Mfn2(G176S), and Mfn2(H165R) mutations drive Charcot-Marie-Tooth type 2A disease by inducing apoptosis and mitochondrial oxidative phosphorylation damage.
Suppression of miR-17 Alleviates Acute Respiratory Distress-associated Lung Fibrosis by Regulating Mfn2.
Title: Suppression of miR-17 Alleviates Acute Respiratory Distress-associated Lung Fibrosis by Regulating Mfn2.
The circular RNA circSLC16A10 alleviates diabetic retinopathy by improving mitochondrial function via the miR-761-5p/MFN2 axis.
Title: The circular RNA circSLC16A10 alleviates diabetic retinopathy by improving mitochondrial function via the miR-761-5p/MFN2 axis.
Mitofusin 1 and 2 overexpression reduces AbetaO-mediated ER stress and apoptosis in N2a APPswe cells.
Title: Mitofusin 1 and 2 overexpression reduces AβO-mediated ER stress and apoptosis in N2a APPswe cells.
METTL3 confers protection against mitochondrial dysfunction and cognitive impairment in an Alzheimer disease mouse model by upregulating Mfn2 via N6-methyladenosine modification.
Title: METTL3 confers protection against mitochondrial dysfunction and cognitive impairment in an Alzheimer disease mouse model by upregulating Mfn2 via N6-methyladenosine modification.
lncRNA ZNF593-AS inhibits cardiac hypertrophy and myocardial remodeling by upregulating Mfn2 expression.
Title: lncRNA ZNF593-AS inhibits cardiac hypertrophy and myocardial remodeling by upregulating Mfn2 expression.
Mitofusin 2 plays a critical role in maintaining the functional integrity of the neuromuscular-skeletal axis.
Title: Mitofusin 2 plays a critical role in maintaining the functional integrity of the neuromuscular-skeletal axis.
Mfn2/Hsc70 Complex Mediates the Formation of Mitochondria-Lipid Droplets Membrane Contact and Regulates Myocardial Lipid Metabolism.
Title: Mfn2/Hsc70 Complex Mediates the Formation of Mitochondria-Lipid Droplets Membrane Contact and Regulates Myocardial Lipid Metabolism.
Mitofusin-2 induced by exercise modifies lipid droplet-mitochondria communication, promoting fatty acid oxidation in male mice with NAFLD.
Title: Mitofusin-2 induced by exercise modifies lipid droplet-mitochondria communication, promoting fatty acid oxidation in male mice with NAFLD.
Mitofusin-2 Regulates Platelet Mitochondria and Function.
Title: Mitofusin-2 Regulates Platelet Mitochondria and Function.

Submit: New GeneRIF Correction See all GeneRIFs (133)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (7) 1 citation
Targeted (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D4Nimr1 (e-PCR), detects polymorphism
- UniSTS:142482

D4Mit206 (e-PCR), detects polymorphism
- UniSTS:129987

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables GTP binding	ISO Inferred from Sequence Orthology more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables membrane scission GTPase motor activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables proteoglycan binding	ISO Inferred from Sequence Orthology more info
enables small GTPase binding	ISO Inferred from Sequence Orthology more info
enables ubiquitin protein ligase binding	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in aerobic respiration	ISO Inferred from Sequence Orthology more info
involved_in aerobic respiration	ISS Inferred from Sequence or Structural Similarity more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within blastocyst formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within camera-type eye morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular distribution of mitochondria	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial calcium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial fusion	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial fusion	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within mitochondrial fusion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial fusion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial fusion	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial membrane organization	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial membrane organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitochondrion localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrion localization	ISO Inferred from Sequence Orthology more info
involved_in mitochondrion localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitochondrion organization	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of Ras protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of Ras protein signal transduction	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cardiac muscle cell apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell cycle	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell size	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of glial cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of mitochondrial fission	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of reactive oxygen species biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of release of cytochrome c from mitochondria	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of sarcomere organization	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of smooth muscle cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of smooth muscle cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of vascular associated smooth muscle cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of D-glucose import	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cellular respiration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cold-induced thermogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of dendritic spine morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of estradiol secretion	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of hydrogen peroxide biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of insulin receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of mitochondrial membrane potential	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of ovarian follicle development	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of progesterone secretion	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of reactive oxygen species biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of vascular associated smooth muscle cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of vascular associated smooth muscle cell apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of vascular associated smooth muscle cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of vascular associated smooth muscle cell proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein localization to phagophore assembly site	ISO Inferred from Sequence Orthology more info
involved_in protein targeting to mitochondrion	ISO Inferred from Sequence Orthology more info
involved_in protein targeting to mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to unfolded protein	IEA Inferred from Electronic Annotation more info
involved_in type 2 mitophagy	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitochondrial outer membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial outer membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial outer membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: mitofusin-2

Names: HSG protein; hypertension related protein 1; mitochondrial assembly regulatory factor; transmembrane GTPase MFN2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001285920.1 → NP_001272849.1 mitofusin-2

See identical proteins and their annotated locations for NP_001272849.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript. All variants (1 through 7) encode the same protein.

Source sequence(s)

AK042080, AL607066, BY131209, BY151666

Consensus CDS

CCDS38965.1

UniProtKB/Swiss-Prot

A2A7Y7, A8Y5E4, Q3V3B8, Q80U63, Q80WP4, Q80XK3, Q8BHF0, Q8BKV5, Q8R535, Q923X2

UniProtKB/TrEMBL

Q3TEX7, Q3UGM1

Related

ENSMUSP00000030884.4, ENSMUST00000030884.10

Conserved Domains (2) summary

cd09912
Location:97 → 349

DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins

pfam04799
Location:596 → 754

Fzo_mitofusin; fzo-like conserved region
NM_001285921.1 → NP_001272850.1 mitofusin-2

See identical proteins and their annotated locations for NP_001272850.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All variants (1 through 7) encode the same protein.

Source sequence(s)

AK146801, AL607066, BY131209

Consensus CDS

CCDS38965.1

UniProtKB/Swiss-Prot

A2A7Y7, A8Y5E4, Q3V3B8, Q80U63, Q80WP4, Q80XK3, Q8BHF0, Q8BKV5, Q8R535, Q923X2

UniProtKB/TrEMBL

Q3TEX7, Q3UGM1

Conserved Domains (2) summary

cd09912
Location:97 → 349

DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins

pfam04799
Location:596 → 754

Fzo_mitofusin; fzo-like conserved region
NM_001285922.1 → NP_001272851.1 mitofusin-2

See identical proteins and their annotated locations for NP_001272851.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All variants (1 through 7) encode the same protein.

Source sequence(s)

AK042080, AL607066, BY123199, BY131209

Consensus CDS

CCDS38965.1

UniProtKB/Swiss-Prot

A2A7Y7, A8Y5E4, Q3V3B8, Q80U63, Q80WP4, Q80XK3, Q8BHF0, Q8BKV5, Q8R535, Q923X2

UniProtKB/TrEMBL

Q3TEX7, Q3UGM1

Conserved Domains (2) summary

cd09912
Location:97 → 349

DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins

pfam04799
Location:596 → 754

Fzo_mitofusin; fzo-like conserved region
NM_001285923.1 → NP_001272852.1 mitofusin-2

See identical proteins and their annotated locations for NP_001272852.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. All variants (1 through 7) encode the same protein.

Source sequence(s)

AK042080, AL607066, BY105143

Consensus CDS

CCDS38965.1

UniProtKB/Swiss-Prot

A2A7Y7, A8Y5E4, Q3V3B8, Q80U63, Q80WP4, Q80XK3, Q8BHF0, Q8BKV5, Q8R535, Q923X2

UniProtKB/TrEMBL

Q3TEX7, Q3UGM1

Related

ENSMUSP00000101340.2, ENSMUST00000105715.8

Conserved Domains (2) summary

cd09912
Location:97 → 349

DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins

pfam04799
Location:596 → 754

Fzo_mitofusin; fzo-like conserved region
NM_001355590.1 → NP_001342519.1 mitofusin-2

Status: VALIDATED

Description

Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. All variants (1 through 7) encode the same protein.

Source sequence(s)

AK042080, AL607066, BY062931

Consensus CDS

CCDS38965.1

UniProtKB/Swiss-Prot

A2A7Y7, A8Y5E4, Q3V3B8, Q80U63, Q80WP4, Q80XK3, Q8BHF0, Q8BKV5, Q8R535, Q923X2

UniProtKB/TrEMBL

Q3TEX7, Q3UGM1

Conserved Domains (2) summary

cd09912
Location:97 → 349

DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins

pfam04799
Location:596 → 754

Fzo_mitofusin; fzo-like conserved region
NM_001355591.1 → NP_001342520.1 mitofusin-2

Status: VALIDATED

Description

Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. All variants (1 through 7) encode the same protein.

Source sequence(s)

AK042080, AL607066, BY085386, BY105143

Consensus CDS

CCDS38965.1

UniProtKB/Swiss-Prot

A2A7Y7, A8Y5E4, Q3V3B8, Q80U63, Q80WP4, Q80XK3, Q8BHF0, Q8BKV5, Q8R535, Q923X2

UniProtKB/TrEMBL

Q3TEX7, Q3UGM1

Conserved Domains (2) summary

cd09912
Location:97 → 349

DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins

pfam04799
Location:596 → 754

Fzo_mitofusin; fzo-like conserved region
NM_133201.3 → NP_573464.2 mitofusin-2

See identical proteins and their annotated locations for NP_573464.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All variants (1 through 7) encode the same protein.

Source sequence(s)

AK042080, AL607066, BY131209

Consensus CDS

CCDS38965.1

UniProtKB/Swiss-Prot

A2A7Y7, A8Y5E4, Q3V3B8, Q80U63, Q80WP4, Q80XK3, Q8BHF0, Q8BKV5, Q8R535, Q923X2

UniProtKB/TrEMBL

Q3TEX7, Q3UGM1

Related

ENSMUSP00000101341.3, ENSMUST00000105716.9

Conserved Domains (2) summary

cd09912
Location:97 → 349

DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins

pfam04799
Location:596 → 754

Fzo_mitofusin; fzo-like conserved region

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

147958043..147989527 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036163780.1 → XP_036019673.1 mitofusin-2 isoform X1

UniProtKB/Swiss-Prot

A2A7Y7, A8Y5E4, Q3V3B8, Q80U63, Q80WP4, Q80XK3, Q8BHF0, Q8BKV5, Q8R535, Q923X2

UniProtKB/TrEMBL

Q3TEX7, Q3UGM1

Conserved Domains (2) summary

cd09912
Location:97 → 349

DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins

pfam04799
Location:596 → 754

Fzo_mitofusin; fzo-like conserved region
XM_036163778.1 → XP_036019671.1 mitofusin-2 isoform X1

UniProtKB/Swiss-Prot

A2A7Y7, A8Y5E4, Q3V3B8, Q80U63, Q80WP4, Q80XK3, Q8BHF0, Q8BKV5, Q8R535, Q923X2

UniProtKB/TrEMBL

Q3TEX7, Q3UGM1

Conserved Domains (2) summary

cd09912
Location:97 → 349

DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins

pfam04799
Location:596 → 754

Fzo_mitofusin; fzo-like conserved region
XM_036163779.1 → XP_036019672.1 mitofusin-2 isoform X1

UniProtKB/Swiss-Prot

A2A7Y7, A8Y5E4, Q3V3B8, Q80U63, Q80WP4, Q80XK3, Q8BHF0, Q8BKV5, Q8R535, Q923X2

UniProtKB/TrEMBL

Q3TEX7, Q3UGM1

Conserved Domains (2) summary

cd09912
Location:97 → 349

DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins

pfam04799
Location:596 → 754

Fzo_mitofusin; fzo-like conserved region
XM_006538609.5 → XP_006538672.1 mitofusin-2 isoform X1

See identical proteins and their annotated locations for XP_006538672.1

UniProtKB/Swiss-Prot

A2A7Y7, A8Y5E4, Q3V3B8, Q80U63, Q80WP4, Q80XK3, Q8BHF0, Q8BKV5, Q8R535, Q923X2

UniProtKB/TrEMBL

Q3TEX7, Q3UGM1

Conserved Domains (2) summary

cd09912
Location:97 → 349

DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins

pfam04799
Location:596 → 754

Fzo_mitofusin; fzo-like conserved region
XM_036163781.1 → XP_036019674.1 mitofusin-2 isoform X1

UniProtKB/Swiss-Prot

A2A7Y7, A8Y5E4, Q3V3B8, Q80U63, Q80WP4, Q80XK3, Q8BHF0, Q8BKV5, Q8R535, Q923X2

UniProtKB/TrEMBL

Q3TEX7, Q3UGM1

Conserved Domains (2) summary

cd09912
Location:97 → 349

DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins

pfam04799
Location:596 → 754

Fzo_mitofusin; fzo-like conserved region
XM_017320014.2 → XP_017175503.1 mitofusin-2 isoform X2

UniProtKB/TrEMBL

Q3TEX7, Q3UGM1

Conserved Domains (2) summary

cd09912
Location:97 → 349

DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins

pfam04799
Location:595 → 690

Fzo_mitofusin; fzo-like conserved region