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    MFN2 mitofusin 2 [ Homo sapiens (human) ]

    Gene ID: 9927, updated on 10-Dec-2024

    Summary

    Official Symbol
    MFN2provided by HGNC
    Official Full Name
    mitofusin 2provided by HGNC
    Primary source
    HGNC:HGNC:16877
    See related
    Ensembl:ENSG00000116688 MIM:608507; AllianceGenome:HGNC:16877
    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; MSL; 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:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (11980444..12013508)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (11524563..11557644)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (12040501..12073565)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11985428-11986090 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11986091-11986754 Neighboring gene KIAA2013 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11993557-11994482 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11994483-11995406 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:11998825-12000024 Neighboring gene Sharpr-MPRA regulatory region 8260 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12005168-12005843 Neighboring gene procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:12023296-12023497 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:12026474-12026974 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:12026975-12027475 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 279 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 280 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 183 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12060855-12061784 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:12065587-12065864 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 185 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12067964-12068629 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12068630-12069294 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 186 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:12079342-12080212 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12080213-12081083 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (615 hits/1283 screens)

    Associated conditions

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2017-02-02)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2017-02-02)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    New gene functions in megakaryopoiesis and platelet formation.
    EBI GWAS Catalog

    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

    General gene information

    Clone Names

    • KIAA0214

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding  
    enables GTPase activity  
    enables membrane scission GTPase motor activity  
    enables protein binding PubMed 
    enables ubiquitin protein ligase binding PubMed 
    Process Evidence Code Pubs
    involved_in aerobic respiration PubMed 
    involved_in apoptotic process  
    involved_in blastocyst formation  
    involved_in camera-type eye morphogenesis  
    involved_in mitochondrial fusion  
    involved_in mitochondrial fusion PubMed 
    involved_in mitochondrial fusion PubMed 
    involved_in mitochondrial fusion  
    involved_in mitochondrial fusion PubMed 
    involved_in mitochondrial membrane organization PubMed 
    involved_in mitochondrion localization  
    involved_in mitochondrion localization PubMed 
    involved_in negative regulation of Ras protein signal transduction PubMed 
    involved_in negative regulation of smooth muscle cell proliferation  
    involved_in positive regulation of cold-induced thermogenesis PubMed 
    involved_in positive regulation of vascular associated smooth muscle cell apoptotic process PubMed 
    involved_in positive regulation of vascular associated smooth muscle cell proliferation PubMed 
    acts_upstream_of_or_within protein localization to phagophore assembly site PubMed 
    involved_in protein targeting to mitochondrion PubMed 
    involved_in response to unfolded protein  
    involved_in type 2 mitophagy  
    Component Evidence Code Pubs
    located_in cytosol  
    located_in microtubule cytoskeleton  
    is_active_in mitochondrial outer membrane  
    located_in mitochondrial outer membrane  
    located_in mitochondrial outer membrane  
    located_in mitochondrion PubMed 
    located_in mitochondrion 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_001127660.2 → NP_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
      A8K1B3, O95140, O95572, Q5JXC3, Q5JXC4, Q9H131, Q9NSX8
      UniProtKB/TrEMBL
      A0A6Q8PGV8
      Related
      ENSP00000502151.1, ENST00000674817.1
      Conserved Domains (2) summary
      cd09912
      Location:97 → 349
      DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
      pfam04799
      Location:595 → 754
      Fzo_mitofusin; fzo-like conserved region
    2. NM_014874.4 → NP_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
      A8K1B3, O95140, O95572, Q5JXC3, Q5JXC4, Q9H131, Q9NSX8
      UniProtKB/TrEMBL
      A0A6Q8PGV8
      Related
      ENSP00000235329.5, ENST00000235329.10
      Conserved Domains (2) summary
      cd09912
      Location:97 → 349
      DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
      pfam04799
      Location:595 → 754
      Fzo_mitofusin; fzo-like conserved region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      11980444..12013508
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436154.1 → XP_047292110.1  mitofusin-2 isoform X1

      UniProtKB/Swiss-Prot
      A8K1B3, O95140, O95572, Q5JXC3, Q5JXC4, Q9H131, Q9NSX8
      UniProtKB/TrEMBL
      A0A6Q8PGV8
    2. XM_047436149.1 → XP_047292105.1  mitofusin-2 isoform X1

      UniProtKB/Swiss-Prot
      A8K1B3, O95140, O95572, Q5JXC3, Q5JXC4, Q9H131, Q9NSX8
      UniProtKB/TrEMBL
      A0A6Q8PGV8
    3. XM_005263543.4 → XP_005263600.1  mitofusin-2 isoform X1

      See identical proteins and their annotated locations for XP_005263600.1

      UniProtKB/Swiss-Prot
      A8K1B3, O95140, O95572, Q5JXC3, Q5JXC4, Q9H131, Q9NSX8
      UniProtKB/TrEMBL
      A0A6Q8PGV8
      Related
      ENSP00000502404.1, ENST00000675231.1
      Conserved Domains (2) summary
      cd09912
      Location:97 → 349
      DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
      pfam04799
      Location:595 → 754
      Fzo_mitofusin; fzo-like conserved region
    4. XM_005263548.4 → XP_005263605.1  mitofusin-2 isoform X1

      See identical proteins and their annotated locations for XP_005263605.1

      UniProtKB/Swiss-Prot
      A8K1B3, O95140, O95572, Q5JXC3, Q5JXC4, Q9H131, Q9NSX8
      UniProtKB/TrEMBL
      A0A6Q8PGV8
      Conserved Domains (2) summary
      cd09912
      Location:97 → 349
      DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
      pfam04799
      Location:595 → 754
      Fzo_mitofusin; fzo-like conserved region
    5. XM_005263545.4 → XP_005263602.1  mitofusin-2 isoform X1

      See identical proteins and their annotated locations for XP_005263602.1

      UniProtKB/Swiss-Prot
      A8K1B3, O95140, O95572, Q5JXC3, Q5JXC4, Q9H131, Q9NSX8
      UniProtKB/TrEMBL
      A0A6Q8PGV8
      Related
      ENSP00000501646.1, ENST00000675053.1
      Conserved Domains (2) summary
      cd09912
      Location:97 → 349
      DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
      pfam04799
      Location:595 → 754
      Fzo_mitofusin; fzo-like conserved region
    6. XM_047436156.1 → XP_047292112.1  mitofusin-2 isoform X2

      UniProtKB/TrEMBL
      A0A6Q8PGS9
      Related
      ENST00000675483.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      11524563..11557644
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339952.1 → XP_054195927.1  mitofusin-2 isoform X1

      UniProtKB/Swiss-Prot
      A8K1B3, O95140, O95572, Q5JXC3, Q5JXC4, Q9H131, Q9NSX8
      UniProtKB/TrEMBL
      A0A6Q8PGV8
    2. XM_054339950.1 → XP_054195925.1  mitofusin-2 isoform X1

      UniProtKB/Swiss-Prot
      A8K1B3, O95140, O95572, Q5JXC3, Q5JXC4, Q9H131, Q9NSX8
      UniProtKB/TrEMBL
      A0A6Q8PGV8
    3. XM_054339951.1 → XP_054195926.1  mitofusin-2 isoform X1

      UniProtKB/Swiss-Prot
      A8K1B3, O95140, O95572, Q5JXC3, Q5JXC4, Q9H131, Q9NSX8
      UniProtKB/TrEMBL
      A0A6Q8PGV8
    4. XM_054339953.1 → XP_054195928.1  mitofusin-2 isoform X1

      UniProtKB/Swiss-Prot
      A8K1B3, O95140, O95572, Q5JXC3, Q5JXC4, Q9H131, Q9NSX8
      UniProtKB/TrEMBL
      A0A6Q8PGV8
    5. XM_054339949.1 → XP_054195924.1  mitofusin-2 isoform X1

      UniProtKB/Swiss-Prot
      A8K1B3, O95140, O95572, Q5JXC3, Q5JXC4, Q9H131, Q9NSX8
      UniProtKB/TrEMBL
      A0A6Q8PGV8
    6. XM_054339954.1 → XP_054195929.1  mitofusin-2 isoform X2

      UniProtKB/TrEMBL
      A0A6Q8PGS9
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