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    Mfn2 mitofusin 2 [ Mus musculus (house mouse) ]

    Gene ID: 170731, updated on 9-Dec-2024

    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, Dec 2024]
    Expression
    Ubiquitous expression in heart adult (RPKM 132.4), testis adult (RPKM 47.3) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Mfn2 in Genome Data Viewer
    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_000070.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E181 Neighboring gene migration and invasion inhibitory protein Neighboring gene Friend virus susceptibility 1 Neighboring gene STARR-positive B cell enhancer ABC_E9625 Neighboring gene procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 Neighboring gene STARR-seq mESC enhancer starr_12062 Neighboring gene RIKEN cDNA 2510039O18 gene Neighboring gene STARR-positive B cell enhancer ABC_E2145

    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

    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 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
      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: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
      A2A7Y7, A8Y5E4, Q3V3B8, Q80U63, Q80WP4, Q80XK3, Q8BHF0, Q8BKV5, Q8R535, Q923X2
      UniProtKB/TrEMBL
      Q3TEX7, Q3UGM1
      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
      A2A7Y7, A8Y5E4, Q3V3B8, Q80U63, Q80WP4, Q80XK3, Q8BHF0, Q8BKV5, Q8R535, Q923X2
      UniProtKB/TrEMBL
      Q3TEX7, Q3UGM1
      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
      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: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
      A2A7Y7, A8Y5E4, Q3V3B8, Q80U63, Q80WP4, Q80XK3, Q8BHF0, Q8BKV5, Q8R535, Q923X2
      UniProtKB/TrEMBL
      Q3TEX7, Q3UGM1
      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
      A2A7Y7, A8Y5E4, Q3V3B8, Q80U63, Q80WP4, Q80XK3, Q8BHF0, Q8BKV5, Q8R535, Q923X2
      UniProtKB/TrEMBL
      Q3TEX7, Q3UGM1
      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
      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: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: 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

    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
      A2A7Y7, A8Y5E4, Q3V3B8, Q80U63, Q80WP4, Q80XK3, Q8BHF0, Q8BKV5, Q8R535, Q923X2
      UniProtKB/TrEMBL
      Q3TEX7, Q3UGM1
      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
      A2A7Y7, A8Y5E4, Q3V3B8, Q80U63, Q80WP4, Q80XK3, Q8BHF0, Q8BKV5, Q8R535, Q923X2
      UniProtKB/TrEMBL
      Q3TEX7, Q3UGM1
      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
      A2A7Y7, A8Y5E4, Q3V3B8, Q80U63, Q80WP4, Q80XK3, Q8BHF0, Q8BKV5, Q8R535, Q923X2
      UniProtKB/TrEMBL
      Q3TEX7, Q3UGM1
      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
      A2A7Y7, A8Y5E4, Q3V3B8, Q80U63, Q80WP4, Q80XK3, Q8BHF0, Q8BKV5, Q8R535, Q923X2
      UniProtKB/TrEMBL
      Q3TEX7, Q3UGM1
      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
      A2A7Y7, A8Y5E4, Q3V3B8, Q80U63, Q80WP4, Q80XK3, Q8BHF0, Q8BKV5, Q8R535, Q923X2
      UniProtKB/TrEMBL
      Q3TEX7, Q3UGM1
      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

      UniProtKB/TrEMBL
      Q3TEX7, Q3UGM1
      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