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    MFN2 mitofusin 2 [ Homo sapiens (human) ]

    Gene ID: 9927, updated on 19-Jul-2021

    Summary

    Official Symbol
    MFN2provided by HGNC
    Official Full Name
    mitofusin 2provided by HGNC
    Primary source
    HGNC:HGNC:16877
    See related
    Ensembl:ENSG00000116688 MIM:608507
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HSG; MARF; CMT2A; CPRP1; CMT2A2; HMSN6A; CMT2A2A; CMT2A2B
    Summary
    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]
    Expression
    Ubiquitous expression in heart (RPKM 98.6), thyroid (RPKM 37.1) 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:
    1p36.22
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (11980215..12013508)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (12040501..12073565)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene KIAA2013 Neighboring gene Sharpr-MPRA regulatory region 3946 Neighboring gene Sharpr-MPRA regulatory region 8260 Neighboring gene procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Neighboring gene migration and invasion inhibitory protein Neighboring gene microRNA 6729 Neighboring gene RNA, 7SL, cytoplasmic 649, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr significantly downregulates expression level of MFN2 in the mitochondria via VprBP-DDB1-CUL4A ubiquitin ligase in a proteasome-dependent manner PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA0214

    Gene Ontology Provided by GOA

    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
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in blastocyst formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in camera-type eye morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitochondrial fusion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in mitochondrial fusion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitochondrial fusion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mitochondrial fusion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in mitochondrial membrane organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mitochondrion localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in mitochondrion localization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of Ras protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of smooth muscle cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of vascular associated smooth muscle cell apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of vascular associated smooth muscle cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within protein localization to phagophore assembly site IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein targeting to mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT involved_in regulation of cell cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to unfolded protein IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in intrinsic component of mitochondrial outer membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in intrinsic component of mitochondrial outer membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in microtubule cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    mitofusin-2
    Names
    hyperplasia suppressor
    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.

    Genomic

    1. NG_007945.1 RefSeqGene

      Range
      5001..38335
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_255

    mRNA and Protein(s)

    1. NM_001127660.2NP_001121132.1  mitofusin-2

      See identical proteins and their annotated locations for NP_001121132.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AI857365, AK289828, AL137666
      Consensus CDS
      CCDS30587.1
      UniProtKB/Swiss-Prot
      O95140
      Related
      ENSP00000502151.1, ENST00000674817.1
      Conserved Domains (2) summary
      cd09912
      Location:97349
      DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
      pfam04799
      Location:595754
      Fzo_mitofusin; fzo-like conserved region
    2. NM_014874.4NP_055689.1  mitofusin-2

      See identical proteins and their annotated locations for NP_055689.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AI857365, AL137666, BC017061, DC401346
      Consensus CDS
      CCDS30587.1
      UniProtKB/Swiss-Prot
      O95140
      Related
      ENSP00000235329.5, ENST00000235329.10
      Conserved Domains (2) summary
      cd09912
      Location:97349
      DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
      pfam04799
      Location:595754
      Fzo_mitofusin; fzo-like conserved region

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      11980215..12013508
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005263548.3XP_005263605.1  mitofusin-2 isoform X1

      See identical proteins and their annotated locations for XP_005263605.1

      UniProtKB/Swiss-Prot
      O95140
      Conserved Domains (2) summary
      cd09912
      Location:97349
      DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
      pfam04799
      Location:595754
      Fzo_mitofusin; fzo-like conserved region
    2. XM_005263543.3XP_005263600.1  mitofusin-2 isoform X1

      See identical proteins and their annotated locations for XP_005263600.1

      UniProtKB/Swiss-Prot
      O95140
      Related
      ENSP00000502334.1, ENST00000674658.1
      Conserved Domains (2) summary
      cd09912
      Location:97349
      DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
      pfam04799
      Location:595754
      Fzo_mitofusin; fzo-like conserved region
    3. XM_024451299.1XP_024307067.1  mitofusin-2 isoform X1

      Related
      ENSP00000502404.1, ENST00000675231.1
      Conserved Domains (2) summary
      cd09912
      Location:97349
      DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
      pfam04799
      Location:595754
      Fzo_mitofusin; fzo-like conserved region
    4. XM_005263545.3XP_005263602.1  mitofusin-2 isoform X1

      See identical proteins and their annotated locations for XP_005263602.1

      UniProtKB/Swiss-Prot
      O95140
      Related
      ENSP00000501646.1, ENST00000675053.1
      Conserved Domains (2) summary
      cd09912
      Location:97349
      DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
      pfam04799
      Location:595754
      Fzo_mitofusin; fzo-like conserved region
    5. XM_005263547.3XP_005263604.1  mitofusin-2 isoform X1

      See identical proteins and their annotated locations for XP_005263604.1

      UniProtKB/Swiss-Prot
      O95140
      Conserved Domains (2) summary
      cd09912
      Location:97349
      DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
      pfam04799
      Location:595754
      Fzo_mitofusin; fzo-like conserved region
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