Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MFN2 Gene

Aliases for MFN2 Gene

  • Mitofusin 2 2 3
  • Transmembrane GTPase MFN2 3 4
  • KIAA0214 4 6
  • CMT2A2 3 6
  • CPRP1 3 4
  • Mitochondrial Assembly Regulatory Factor 3
  • Hyperplasia Suppressor 3
  • Mitofusin-2 3
  • EC 3.6.5.- 4
  • EC 3.6.5 64
  • CMT2A 3
  • MARF 3
  • HSG 3

External Ids for MFN2 Gene

Summaries for MFN2 Gene

Entrez Gene Summary for MFN2 Gene

  • 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]

GeneCards Summary for MFN2 Gene

MFN2 (Mitofusin 2) is a Protein Coding gene. Diseases associated with MFN2 include hereditary motor and sensory neuropathy vi and charcot-marie-tooth neuropathy type 2a. Among its related pathways are Hemostasis and Glucose / Energy Metabolism. GO annotations related to this gene include GTP binding and ubiquitin protein ligase binding. An important paralog of this gene is MFN1.

UniProtKB/Swiss-Prot for MFN2 Gene

  • Essential transmembrane GTPase, which mediates mitochondrial fusion. Fusion of mitochondria occurs in many cell types and constitutes an important step in mitochondria morphology, which is balanced between fusion and fission. MFN2 acts independently of the cytoskeleton. It therefore plays a central role in mitochondrial metabolism and may be associated with obesity and/or apoptosis processes. Overexpression induces the formation of mitochondrial networks. Plays an important role in the regulation of vascular smooth muscle cell proliferation. Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy). Is required for PARK2 recruitment to dysfunctional mitochondria. Involved in the control of unfolded protein response (UPR) upon ER stress including activation of apoptosis and autophagy during ER stress. Acts as an upstream regulator of EIF2AK3 and suppresses EIF2AK3 activation under basal conditions.

Gene Wiki entry for MFN2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MFN2 Gene

Genomics for MFN2 Gene

Genomic Location for MFN2 Gene

Start:
11,980,181 bp from pter
End:
12,013,515 bp from pter
Size:
33,335 bases
Orientation:
Plus strand

Genomic View for MFN2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MFN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MFN2 Gene

Regulatory Elements for MFN2 Gene

Proteins for MFN2 Gene

  • Protein details for MFN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95140-MFN2_HUMAN
    Recommended name:
    Mitofusin-2
    Protein Accession:
    O95140
    Secondary Accessions:
    • A8K1B3
    • O95572
    • Q5JXC3
    • Q5JXC4
    • Q9H131
    • Q9NSX8

    Protein attributes for MFN2 Gene

    Size:
    757 amino acids
    Molecular mass:
    86402 Da
    Quaternary structure:
    • Forms homomultimers and heteromultimers with MFN1. Oligomerization, which is mediated by the second coiled coil region, may play an essential role in mitochondrion fusion. Interacts with VAT1. Interacts with STOML2; may form heterooligomers. Interacts (phosphorylated) with PARK2. Interacts with EIF2AK3.
    SequenceCaution:
    • Sequence=BAA34389.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAB70866.2; Type=Frameshift; Positions=581; Evidence={ECO:0000305};

    Alternative splice isoforms for MFN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MFN2 Gene

Proteomics data for MFN2 Gene at MOPED

Post-translational modifications for MFN2 Gene

  • Phosphorylated by PINK1.
  • Ubiquitinated by non-degradative ubiquitin by PARK2, promoting mitochondrial fusion; deubiquitination by USP30 inhibits mitochondrial fusion.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys406, Lys416, and Lys420

Other Protein References for MFN2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for MFN2 Gene

Protein Domains for MFN2 Gene

UniProtKB/Swiss-Prot:

MFN2_HUMAN
Domain:
  • Contains 1 dynamin-type G (guanine nucleotide-binding) domain.:
    • O95140
Family:
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. Mitofusin subfamily.:
    • O95140
genes like me logo Genes that share domains with MFN2: view

No data available for Gene Families for MFN2 Gene

Function for MFN2 Gene

Molecular function for MFN2 Gene

UniProtKB/Swiss-Prot CatalyticActivity: GTP + H(2)O = GDP + phosphate
UniProtKB/Swiss-Prot Function: Essential transmembrane GTPase, which mediates mitochondrial fusion. Fusion of mitochondria occurs in many cell types and constitutes an important step in mitochondria morphology, which is balanced between fusion and fission. MFN2 acts independently of the cytoskeleton. It therefore plays a central role in mitochondrial metabolism and may be associated with obesity and/or apoptosis processes. Overexpression induces the formation of mitochondrial networks. Plays an important role in the regulation of vascular smooth muscle cell proliferation. Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy). Is required for PARK2 recruitment to dysfunctional mitochondria. Involved in the control of unfolded protein response (UPR) upon ER stress including activation of apoptosis and autophagy during ER stress. Acts as an upstream regulator of EIF2AK3 and suppresses EIF2AK3 activation under basal conditions.

Enzyme Numbers (IUBMB) for MFN2 Gene

Gene Ontology (GO) - Molecular Function for MFN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IEA --
GO:0005515 protein binding IPI 17121834
GO:0005525 GTP binding IEA --
GO:0031625 ubiquitin protein ligase binding IPI 16936636
genes like me logo Genes that share ontologies with MFN2: view
genes like me logo Genes that share phenotypes with MFN2: view

Animal Models for MFN2 Gene

MGI Knock Outs for MFN2:

No data available for Transcription Factor Targeting and HOMER Transcription for MFN2 Gene

Localization for MFN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MFN2 Gene

Mitochondrion outer membrane; Multi-pass membrane protein. Note=Colocalizes with BAX during apoptosis.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MFN2 Gene COMPARTMENTS Subcellular localization image for MFN2 gene
Compartment Confidence
mitochondrion 5
cytosol 4
cytoskeleton 2
endoplasmic reticulum 2
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MFN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 11181170
GO:0005741 mitochondrial outer membrane TAS --
GO:0005829 cytosol ISS --
GO:0015630 microtubule cytoskeleton IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MFN2: view

Pathways for MFN2 Gene

genes like me logo Genes that share pathways with MFN2: view

Pathways by source for MFN2 Gene

1 Cell Signaling Technology pathway for MFN2 Gene

Gene Ontology (GO) - Biological Process for MFN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001825 blastocyst formation IEA --
GO:0006184 obsolete GTP catabolic process --
GO:0006626 protein targeting to mitochondrion IDA 11181170
GO:0006914 autophagy IEA --
GO:0006915 apoptotic process IEA --
genes like me logo Genes that share ontologies with MFN2: view

Compounds for MFN2 Gene

(1) HMDB Compounds for MFN2 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
86-01-1

(1) Novoseek inferred chemical compound relationships for MFN2 Gene

Compound -log(P) Hits PubMed IDs
glucose 0 5
genes like me logo Genes that share compounds with MFN2: view

Transcripts for MFN2 Gene

Unigene Clusters for MFN2 Gene

Mitofusin 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MFN2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16a ·
SP1: - - - - - - - - - -
SP2: - -
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9: - - - - - - - - - - -
SP10: - -
SP11:

ExUns: 16b ^ 17a · 17b ^ 18 ^ 19a · 19b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: - - - -
SP10:
SP11:

Relevant External Links for MFN2 Gene

GeneLoc Exon Structure for
MFN2
ECgene alternative splicing isoforms for
MFN2

Expression for MFN2 Gene

mRNA expression in normal human tissues for MFN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MFN2 Gene

This gene is overexpressed in Heart - Left Ventricle (5.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MFN2 Gene

SOURCE GeneReport for Unigene cluster for MFN2 Gene Hs.376681

mRNA Expression by UniProt/SwissProt for MFN2 Gene

O95140-MFN2_HUMAN
Tissue specificity: Ubiquitous; expressed at low level. Highly expressed in heart and kidney.
genes like me logo Genes that share expressions with MFN2: view

Orthologs for MFN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MFN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MFN2 36
  • 99.43 (n)
  • 99.74 (a)
MFN2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MFN2 36
  • 91.72 (n)
  • 96.7 (a)
MFN2 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MFN2 36
  • 90.93 (n)
  • 96.96 (a)
MFN2 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mfn2 36
  • 89.96 (n)
  • 94.98 (a)
Mfn2 16
Mfn2 37
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MFN2 37
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 85 (a)
OneToMany
-- 37
  • 89 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia LOC100911485 36
  • 90.09 (n)
  • 95.51 (a)
chicken
(Gallus gallus)
Aves MFN2 36
  • 80.04 (n)
  • 91.52 (a)
MFN2 37
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MFN2 37
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mfn2 36
  • 74.87 (n)
  • 85.71 (a)
zebrafish
(Danio rerio)
Actinopterygii mfn2 36
  • 76.31 (n)
  • 82.96 (a)
mfn2 37
  • 82 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001802 36
  • 57.01 (n)
  • 51.17 (a)
fruit fly
(Drosophila melanogaster)
Insecta fzo 37
  • 34 (a)
ManyToMany
Marf 36
  • 57.8 (n)
  • 49.03 (a)
Marf 37
  • 42 (a)
ManyToMany
fzo 38
  • 33 (a)
Marf 38
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea fzo-1 36
  • 46.26 (n)
  • 36.71 (a)
fzo-1 37
  • 34 (a)
OneToMany
ZK1248.14 38
  • 35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2520 37
  • 51 (a)
OneToMany
Species with no ortholog for MFN2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MFN2 Gene

ENSEMBL:
Gene Tree for MFN2 (if available)
TreeFam:
Gene Tree for MFN2 (if available)

Paralogs for MFN2 Gene

Paralogs for MFN2 Gene

Selected SIMAP similar genes for MFN2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MFN2: view

Variants for MFN2 Gene

Sequence variations from dbSNP and Humsavar for MFN2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs14305 -- 12,012,477(+) GACAG(C/G/T)TGGAG utr-variant-3-prime
rs730123 -- 12,010,235(+) GCGTC(A/G)CTGCC intron-variant
rs873457 -- 11,986,277(-) CACGT(C/G)AAAAA intron-variant
rs873458 -- 11,986,032(-) ACTTC(C/T)GTTTC intron-variant
rs910569 -- 11,985,482(-) tcttt(A/T)aaaaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MFN2 Gene

Variant ID Type Subtype PubMed ID
nsv870502 CNV Loss 21882294
nsv470693 CNV Loss 18288195
esv2743785 CNV Deletion 23290073
esv2672640 CNV Deletion 23128226
nsv871917 CNV Loss 21882294
esv268997 CNV Insertion 20981092

Relevant External Links for MFN2 Gene

HapMap Linkage Disequilibrium report
MFN2
Human Gene Mutation Database (HGMD)
MFN2
Locus Specific Mutation Databases (LSDB)
MFN2

Disorders for MFN2 Gene

(2) OMIM Diseases for MFN2 Gene (608507)

UniProtKB/Swiss-Prot

MFN2_HUMAN
  • Charcot-Marie-Tooth disease 2A2 (CMT2A2) [MIM:609260]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269 PubMed:15064763, ECO:0000269 PubMed:15549395, ECO:0000269 PubMed:22206013}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease 6 (CMT6) [MIM:601152]: A form of Charcot-Marie-Tooth disease characterized by the association of axonal peripheral neuropathy with optic atrophy. Charcot-Marie-Tooth disease is a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. It is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies and primary peripheral axonal neuropathies. Peripheral axonal neuropathies are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269 PubMed:16437557}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for MFN2 Gene

(7) Novoseek inferred disease relationships for MFN2 Gene

Disease -log(P) Hits PubMed IDs
hmsn vi 92.8 4
charcot-marie-tooth disease 90.6 30
optic atrophy autosomal dominant 88.2 4
optic atrophy 77.1 5
sensory neuropathy 68.9 4

Relevant External Links for MFN2

GeneTests
MFN2
GeneReviews
MFN2
Genetic Association Database (GAD)
MFN2
Human Genome Epidemiology (HuGE) Navigator
MFN2
genes like me logo Genes that share disorders with MFN2: view

Publications for MFN2 Gene

  1. Control of mitochondrial morphology by a human mitofusin. (PMID: 11181170) Santel A. … Fuller M.T. (J. Cell Sci. 2001) 2 3 4 23
  2. Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo. (PMID: 11950885) Rojo M. … Lombes A. (J. Cell Sci. 2002) 3 4 23
  3. Mitofusin-2 determines mitochondrial network architecture and mitochondrial metabolism. A novel regulatory mechanism altered in obesity. (PMID: 12598526) Bach D. … Zorzano A. (J. Biol. Chem. 2003) 3 4 23
  4. Mitofusin-1 protein is a generally expressed mediator of mitochondrial fusion in mammalian cells. (PMID: 12759376) Santel A. … Fuller M.T. (J. Cell Sci. 2003) 3 4 23
  5. Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. (PMID: 15549395) Kijima K. … Hayasaka K. (Hum. Genet. 2005) 3 4 23

Products for MFN2 Gene

  • Addgene plasmids for MFN2

Sources for MFN2 Gene

Back to Top

Content