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MFN2 mitofusin 2 [ Homo sapiens (human) ]

Gene ID: 9927, updated on 18-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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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. Cell-cycle arrest at G2/M and proliferation inhibition by adenovirus-expressed mitofusin-2 gene in human colorectal cancer cell lines. Cheng X, et al. Neoplasma, 2013. PMID 23906296
  3. Relationship between mitofusin 2 and cancer. Allegra A, et al. Adv Protein Chem Struct Biol, 2019. PMID 31036292
  4. 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
  5. 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

See all (318) 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)

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 membrane scission GTPase motor activity IEA
Inferred from Electronic Annotation
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 IGI
Inferred from Genetic Interaction
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
  
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

Gene LinkOut

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