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Mfn2 mitofusin 2 [ Mus musculus (house mouse) ]

Gene ID: 170731, updated on 28-Dec-2022

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; parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization; and positive regulation of cold-induced thermogenesis. 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; and Charcot-Marie-Tooth disease type 6. Orthologous to human MFN2 (mitofusin 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in heart adult (RPKM 132.4), testis adult (RPKM 47.3) and 24 other tissues See more
Orthologs
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Genomic context

See Mfn2 in Genome Data Viewer
Location:
4; 4 E1
Exon count:
22
Annotation release Status Assembly Chr Location
109 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_000070.7Genomic Context describing neighboring genes Neighboring gene migration and invasion inhibitory protein Neighboring gene Friend virus susceptibility 1 Neighboring gene procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 Neighboring gene RIKEN cDNA 2510039O18 gene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables GTP binding ISO
Inferred from Sequence Orthology
more info
 
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables GTPase binding ISO
Inferred from Sequence Orthology
more info
 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables nucleotide binding 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 ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within apoptotic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within autophagy 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
PubMed 
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 mitochondrion localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mitochondrion localization ISO
Inferred from Sequence Orthology
more info
 
involved_in mitochondrion morphogenesis ISO
Inferred from Sequence Orthology
more info
 
involved_in mitochondrion organization ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within multicellular organism development 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 death 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 neuron death 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 vascular associated smooth muscle cell proliferation ISO
Inferred from Sequence Orthology
more info
 
involved_in parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cellular respiration ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of chromatin binding 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 glucose import 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 ISO
Inferred from Sequence Orthology
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
 
acts_upstream_of_or_within response to unfolded protein IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
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
PubMed 
located_in mitochondrial outer membrane ISO
Inferred from Sequence Orthology
more info
 
located_in mitochondrion HDA 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

Preferred Names
mitofusin-2
Names
HSG protein
hypertension related protein 1
mitochondrial assembly regulatory factor
transmembrane GTPase MFN2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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)

  1. NM_001285920.1NP_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
    Q80U63, Q923X2
    Related
    ENSMUSP00000030884.4, ENSMUST00000030884.10
    Conserved Domains (2) summary
    cd09912
    Location:97349
    DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
    pfam04799
    Location:596754
    Fzo_mitofusin; fzo-like conserved region
  2. NM_001285921.1NP_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
    Q80U63, Q923X2
    Conserved Domains (2) summary
    cd09912
    Location:97349
    DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
    pfam04799
    Location:596754
    Fzo_mitofusin; fzo-like conserved region
  3. NM_001285922.1NP_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
    Q80U63, Q923X2
    Conserved Domains (2) summary
    cd09912
    Location:97349
    DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
    pfam04799
    Location:596754
    Fzo_mitofusin; fzo-like conserved region
  4. NM_001285923.1NP_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
    Q80U63, Q923X2
    Related
    ENSMUSP00000101340.2, ENSMUST00000105715.8
    Conserved Domains (2) summary
    cd09912
    Location:97349
    DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
    pfam04799
    Location:596754
    Fzo_mitofusin; fzo-like conserved region
  5. NM_001355590.1NP_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
    Q923X2
    Conserved Domains (2) summary
    cd09912
    Location:97349
    DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
    pfam04799
    Location:596754
    Fzo_mitofusin; fzo-like conserved region
  6. NM_001355591.1NP_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
    Q923X2
    Conserved Domains (2) summary
    cd09912
    Location:97349
    DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
    pfam04799
    Location:596754
    Fzo_mitofusin; fzo-like conserved region
  7. NM_133201.3NP_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
    Q80U63, Q923X2
    Related
    ENSMUSP00000101341.3, ENSMUST00000105716.9
    Conserved Domains (2) summary
    cd09912
    Location:97349
    DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
    pfam04799
    Location:596754
    Fzo_mitofusin; fzo-like conserved region

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    147958043..147989527 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    Q923X2
    Conserved Domains (2) summary
    cd09912
    Location:97349
    DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
    pfam04799
    Location:596754
    Fzo_mitofusin; fzo-like conserved region
  2. XM_036163778.1XP_036019671.1  mitofusin-2 isoform X1

    UniProtKB/Swiss-Prot
    Q923X2
    Conserved Domains (2) summary
    cd09912
    Location:97349
    DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
    pfam04799
    Location:596754
    Fzo_mitofusin; fzo-like conserved region
  3. XM_036163779.1XP_036019672.1  mitofusin-2 isoform X1

    UniProtKB/Swiss-Prot
    Q923X2
    Conserved Domains (2) summary
    cd09912
    Location:97349
    DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
    pfam04799
    Location:596754
    Fzo_mitofusin; fzo-like conserved region
  4. XM_006538609.5XP_006538672.1  mitofusin-2 isoform X1

    See identical proteins and their annotated locations for XP_006538672.1

    UniProtKB/Swiss-Prot
    Q80U63, Q923X2
    Conserved Domains (2) summary
    cd09912
    Location:97349
    DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
    pfam04799
    Location:596754
    Fzo_mitofusin; fzo-like conserved region
  5. XM_036163781.1XP_036019674.1  mitofusin-2 isoform X1

    UniProtKB/Swiss-Prot
    Q923X2
    Conserved Domains (2) summary
    cd09912
    Location:97349
    DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
    pfam04799
    Location:596754
    Fzo_mitofusin; fzo-like conserved region
  6. XM_017320014.2XP_017175503.1  mitofusin-2 isoform X2

    Conserved Domains (2) summary
    cd09912
    Location:97349
    DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
    pfam04799
    Location:595690
    Fzo_mitofusin; fzo-like conserved region