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    MFN2 mitofusin 2 [ Homo sapiens (human) ]

    Gene ID: 9927, updated on 6-Dec-2016
    Official Symbol
    MFN2provided by HGNC
    Official Full Name
    mitofusin 2provided by HGNC
    Primary source
    HGNC:HGNC:16877
    See related
    Ensembl:ENSG00000116688 MIM:608507; Vega:OTTHUMG00000002392
    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]
    Orthologs
    Location:
    1p36.22
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (11980181..12013515)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (12040238..12073572)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene KIAA2013 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
      Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Mitophagy, organism-specific biosystem (from REACTOME)
      Mitophagy, organism-specific biosystemMitophagy is a specific form of autophagy where mitochondria are specifically targeted for degradation by autophagolysosomes.. In mammals there are a number of known mechanisms of mitophagy. One insu...
    • NOD-like receptor signaling pathway, organism-specific biosystem (from KEGG)
      NOD-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
    • NOD-like receptor signaling pathway, conserved biosystem (from KEGG)
      NOD-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
    • Pink/Parkin Mediated Mitophagy, organism-specific biosystem (from REACTOME)
      Pink/Parkin Mediated Mitophagy, organism-specific biosystemThis is the process of selective removal of damaged mitochondria by autophagosomes and subsequent catabolism by lysosomes. In healthy mitochondria, PINK1 is imported to the inner mitochondrial membra...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA0214

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    blastocyst formation IEA
    Inferred from Electronic Annotation
    more info
     
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    camera-type eye morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    NOT cell cycle arrest ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    macroautophagy TAS
    Traceable Author Statement
    more info
     
    mitochondrial fusion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitochondrial fusion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitochondrial fusion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    mitochondrial membrane organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion localization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of Ras protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of smooth muscle cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    parkin-mediated mitophagy in response to mitochondrial depolarization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein localization to pre-autophagosomal structure IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein targeting to mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to unfolded protein IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    intrinsic component of mitochondrial outer membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    microtubule cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    mitofusin-2
    Names
    hyperplasia suppressor
    mitochondrial assembly regulatory factor
    transmembrane GTPase MFN2

    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_001127660.1NP_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, DC401346
      Consensus CDS
      CCDS30587.1
      UniProtKB/Swiss-Prot
      O95140
      Related
      ENSP00000416338, ENST00000444836
      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_014874.3NP_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, OTTHUMP00000002509, ENST00000235329, OTTHUMT00000006859
      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 Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      11980181..12013515
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005263548.3XP_005263605.1  

      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  

      See identical proteins and their annotated locations for XP_005263600.1

      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
    3. XM_005263545.3XP_005263602.1  

      See identical proteins and their annotated locations for XP_005263602.1

      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
    4. XM_005263547.3XP_005263604.1  

      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

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      12028020..12061326
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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