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    mfn2 mitofusin 2 [ Danio rerio (zebrafish) ]

    Gene ID: 567448, updated on 15-Dec-2024

    Summary

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    Official Symbol
    mfn2provided by ZNC
    Official Full Name
    mitofusin 2provided by ZNC
    Primary source
    ZFIN:ZDB-GENE-081105-44
    See related
    Ensembl:ENSDARG00000079504 AllianceGenome:ZFIN:ZDB-GENE-081105-44
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    mg:cb01g09; wu:fb79a11; si:dkeyp-104h9.2
    Summary
    Predicted to enable GTPase activity. Acts upstream of or within several processes, including axonal transport of mitochondrion; axonogenesis; and neuromuscular junction development. Predicted to be located in membrane and mitochondrion. Predicted to be active in mitochondrial outer membrane. Is expressed in several structures, including heart; muscle; nervous system; otic vesicle; and ventral mesenchyme. Used to study Charcot-Marie-Tooth disease type 2. 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]
    Orthologs
    human mouse all
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    Genomic context

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    See mfn2 in Genome Data Viewer
    Location:
    chromosome: 8
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 8 NC_007119.7 (47897734..47948904)
    105 previous assembly GRCz10 (GCF_000002035.5) 8 NC_007119.6 (47908742..47959912)

    Chromosome 8 - NC_007119.7Genomic Context describing neighboring genes Neighboring gene si:dkeyp-104h9.5 Neighboring gene procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1a Neighboring gene uncharacterized LOC108190986 Neighboring gene PR domain containing 16 Neighboring gene uncharacterized LOC137496386

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. Axonal Transport Defects in a Mitofusin 2 Loss of Function Model of Charcot-Marie-Tooth Disease in Zebrafish. Chapman AL, et al. PLoS One, 2013. PMID 23840650, Free PMC Article
    2. Mitochondrial dynamics in mammalian health and disease. Liesa M, et al. Physiol Rev, 2009 Jul. PMID 19584314
    3. Developmental defects and neuromuscular alterations due to mitofusin 2 gene (MFN2) silencing in zebrafish: a new model for Charcot-Marie-Tooth type 2A neuropathy. Vettori A, et al. Neuromuscul Disord, 2011 Jan. PMID 20951042
    4. Mitofusin 2 regulates neutrophil adhesive migration and the actin cytoskeleton. Zhou W, et al. J Cell Sci, 2020 Sep 4. PMID 32788232, Free PMC Article
    5. Opa1 is required for proper mitochondrial metabolism in early development. Rahn JJ, et al. PLoS One, 2013. PMID 23516612, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MFN2 mutation status should be investigated in patients presenting with early-onset recessively inherited axonal CMT
      Title: Axonal Transport Defects in a Mitofusin 2 Loss of Function Model of Charcot-Marie-Tooth Disease in Zebrafish.
    2. These results highlight the essential role of mitofusin 2 in the motor axon development and demonstrate the potential of zebrafish as a suitable and complementary platform for dissecting pathogenetic mechanisms of MFN2 mutations in vivo.
      Title: Developmental defects and neuromuscular alterations due to mitofusin 2 gene (MFN2) silencing in zebrafish: a new model for Charcot-Marie-Tooth type 2A neuropathy.
    Submit: New GeneRIF Correction

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within axonal transport of mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within axonogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within hemopoiesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrial fusion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within mitochondrial fusion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrion localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within neuromuscular junction development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in mitochondrial outer membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial outer membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    mitofusin-2

    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)

    1. NM_001128254.2 → NP_001121726.1  mitofusin-2

      See identical proteins and their annotated locations for NP_001121726.1

      Status: VALIDATED

      Source sequence(s)
      BX548250
      UniProtKB/TrEMBL
      A0A8M2BJP0, A8WIN6
      Related
      ENSDARP00000123285.2, ENSDART00000140266.3
      Conserved Domains (2) summary
      cd09912
      Location:97 → 349
      DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
      pfam04799
      Location:594 → 754
      Fzo_mitofusin; fzo-like conserved region

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007119.7 Reference GRCz11 Primary Assembly

      Range
      47897734..47948904
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005172484.5 → XP_005172541.1  mitofusin-2 isoform X1

      See identical proteins and their annotated locations for XP_005172541.1

      UniProtKB/TrEMBL
      A0A8M2BJP0, A8WIN6
      Conserved Domains (2) summary
      cd09912
      Location:97 → 349
      DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
      pfam04799
      Location:594 → 754
      Fzo_mitofusin; fzo-like conserved region

    2. XM_005172483.5 → XP_005172540.1  mitofusin-2 isoform X1

      See identical proteins and their annotated locations for XP_005172540.1

      UniProtKB/TrEMBL
      A0A8M2BJP0, A8WIN6
      Conserved Domains (2) summary
      cd09912
      Location:97 → 349
      DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
      pfam04799
      Location:594 → 754
      Fzo_mitofusin; fzo-like conserved region
    Nucleotide Protein Strain
    Heading Accession and Version

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