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    MFN2 mitofusin 2 [ Homo sapiens (human) ]

    Gene ID: 9927, updated on 6-Nov-2024

    Summary

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    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
    mouse all
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    Try the new Transcript table

    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Low MFN2 expression related to ageing in granulosa cells is associated with assisted reproductive technology outcome. Wang L, et al. Reprod Biomed Online, 2019 Feb. PMID 30593438
    2. Relationship between mitofusin 2 and cancer. Allegra A, et al. Adv Protein Chem Struct Biol, 2019. PMID 31036292
    3. Mitofusin 2 is involved in chemotaxis of neutrophil-like differentiated HL-60 cells. Mazaki Y, et al. Biochem Biophys Res Commun, 2019 Jun 4. PMID 30987827
    4. Single Nucleotide Polymorphisms (SNPs) Genotyping Reveals that Mfn2 Polymorphisms are Associated with Thoracic Aortic Dissection in Han Chinese Population. Han J, et al. Med Sci Monit, 2019 Apr 3. PMID 30940795, Free PMC Article
    5. Mitochondrial fusion and maintenance of mitochondrial homeostasis in diabetic retinopathy. Duraisamy AJ, et al. Biochim Biophys Acta Mol Basis Dis, 2019 Jun 1. PMID 30922813

    See all (316) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. miR-373-3p promotes aerobic glycolysis in colon cancer cells by targeting MFN2.
      Title: miR-373-3p promotes aerobic glycolysis in colon cancer cells by targeting MFN2.
    2. The circular RNA circSLC16A10 alleviates diabetic retinopathy by improving mitochondrial function via the miR-761-5p/MFN2 axis.
      Title: The circular RNA circSLC16A10 alleviates diabetic retinopathy by improving mitochondrial function via the miR-761-5p/MFN2 axis.
    3. MFN2 suppresses the accumulation of lipid droplets and the progression of clear cell renal cell carcinoma.
      Title: MFN2 suppresses the accumulation of lipid droplets and the progression of clear cell renal cell carcinoma.
    4. lncRNA ZNF593-AS inhibits cardiac hypertrophy and myocardial remodeling by upregulating Mfn2 expression.
      Title: lncRNA ZNF593-AS inhibits cardiac hypertrophy and myocardial remodeling by upregulating Mfn2 expression.
    5. Mitofusin-2 enhances cervical cancer progression through Wnt/beta-catenin signaling.
      Title: Mitofusin-2 enhances cervical cancer progression through Wnt/β-catenin signaling.
    6. Declined circular RNA mitofusin 2 constrains the deterioration of Wilms tumor via modulating microRNA-372-3p/transforming growth factor-beta receptor type 2 axis.
      Title: Declined circular RNA mitofusin 2 constrains the deterioration of Wilms tumor via modulating microRNA-372-3p/transforming growth factor-β receptor type 2 axis.
    7. Evaluation of the role of mitofusin-1 and mitofusin-2 in periodontal disease.
      Title: Evaluation of the role of mitofusin-1 and mitofusin-2 in periodontal disease.
    8. MTCH2 cooperates with MFN2 and lysophosphatidic acid synthesis to sustain mitochondrial fusion.
      Title: MTCH2 cooperates with MFN2 and lysophosphatidic acid synthesis to sustain mitochondrial fusion.
    9. Clinicopathologic features of two unrelated autopsied patients with Charcot-Marie-Tooth disease carrying MFN2 gene mutation.
      Title: Clinicopathologic features of two unrelated autopsied patients with Charcot-Marie-Tooth disease carrying MFN2 gene mutation.
    10. CMT2A-linked MFN2 mutation, T206I promotes mitochondrial hyperfusion and predisposes cells towards mitophagy.
      Title: CMT2A-linked MFN2 mutation, T206I promotes mitochondrial hyperfusion and predisposes cells towards mitophagy.
    Submit: New GeneRIF Correction See all GeneRIFs (239)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    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 aerobic respiration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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
    		  
    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
    		  
    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 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 
    involved_in response to unfolded protein IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in type 2 mitophagy ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in microtubule cytoskeleton 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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    mitofusin-2
    Names
    hyperplasia suppressor
    mitochondrial assembly regulatory factor
    transmembrane GTPase MFN2

    NCBI Reference Sequences (RefSeq)

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    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

    2. XM_047436149.1 → XP_047292105.1  mitofusin-2 isoform X1

      UniProtKB/Swiss-Prot
      A8K1B3, O95140, O95572, Q5JXC3, Q5JXC4, Q9H131, Q9NSX8

    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

      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

    2. XM_054339950.1 → XP_054195925.1  mitofusin-2 isoform X1

      UniProtKB/Swiss-Prot
      A8K1B3, O95140, O95572, Q5JXC3, Q5JXC4, Q9H131, Q9NSX8

    3. XM_054339951.1 → XP_054195926.1  mitofusin-2 isoform X1

      UniProtKB/Swiss-Prot
      A8K1B3, O95140, O95572, Q5JXC3, Q5JXC4, Q9H131, Q9NSX8

    4. XM_054339953.1 → XP_054195928.1  mitofusin-2 isoform X1

      UniProtKB/Swiss-Prot
      A8K1B3, O95140, O95572, Q5JXC3, Q5JXC4, Q9H131, Q9NSX8

    5. XM_054339949.1 → XP_054195924.1  mitofusin-2 isoform X1

      UniProtKB/Swiss-Prot
      A8K1B3, O95140, O95572, Q5JXC3, Q5JXC4, Q9H131, Q9NSX8

    6. XM_054339954.1 → XP_054195929.1  mitofusin-2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95140.3 GenPept UniProtKB/Swiss-Prot:O95140

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