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MFN2 mitofusin 2 [ Homo sapiens (human) ]

Gene ID: 9927, updated on 14-Aug-2022

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; 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
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Genomic context

See MFN2 in Genome Data Viewer
Location:
1p36.22
Exon count:
22
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (11980444..12013508)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (11524563..11557644)
105.20220307 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 
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, Q9NSX8
    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, Q9NSX8
    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 Annotation Release 110 details...Open this link in a new tab

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_047436154.1XP_047292110.1  mitofusin-2 isoform X1

    UniProtKB/Swiss-Prot
    Q9NSX8
  2. XM_047436149.1XP_047292105.1  mitofusin-2 isoform X1

    UniProtKB/Swiss-Prot
    Q9NSX8
  3. XM_005263543.4XP_005263600.1  mitofusin-2 isoform X1

    See identical proteins and their annotated locations for XP_005263600.1

    UniProtKB/Swiss-Prot
    O95140, Q9NSX8
    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_005263548.4XP_005263605.1  mitofusin-2 isoform X1

    See identical proteins and their annotated locations for XP_005263605.1

    UniProtKB/Swiss-Prot
    O95140, Q9NSX8
    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_005263545.4XP_005263602.1  mitofusin-2 isoform X1

    See identical proteins and their annotated locations for XP_005263602.1

    UniProtKB/Swiss-Prot
    O95140, Q9NSX8
    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
  6. XM_047436156.1XP_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)