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Aliases for MFN2 Gene

Aliases for MFN2 Gene

  • Mitofusin 2 2 3 5
  • Transmembrane GTPase MFN2 3 4
  • CPRP1 3 4
  • Mitochondrial Assembly Regulatory Factor 3
  • Hyperplasia Suppressor 3
  • EC 3.6.5.- 4
  • KIAA0214 4
  • EC 3.6.5 63
  • CMT2A2 3
  • HMSN6A 3
  • CMT2A 3
  • MARF 3
  • HSG 3

External Ids for MFN2 Gene

Previous GeneCards Identifiers for MFN2 Gene

  • GC01P012104
  • GC01P011885
  • GC01P011649
  • GC01P011749
  • GC01P011974
  • GC01P012040
  • GC01P011195

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 via and charcot-marie-tooth disease, type 2a2. Among its related pathways are Glucose / Energy Metabolism and Factors involved in megakaryocyte development and platelet production. 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

Regulatory Elements for MFN2 Gene

Enhancers for MFN2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MFN2 on UCSC Golden Path with GeneCards custom track

Promoters for MFN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MFN2 on UCSC Golden Path with GeneCards custom track

Genomic Location for MFN2 Gene

Chromosome:
1
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

Genes around MFN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MFN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MFN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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.
  • Ubiquitination at Lys 406, Lys 416, and Lys 420
  • Modification sites at PhosphoSitePlus

Other Protein References for MFN2 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MFN2 (MFN2)

Domains & Families for MFN2 Gene

Protein Domains for MFN2 Gene

Graphical View of Domain Structure for InterPro Entry

O95140

UniProtKB/Swiss-Prot:

MFN2_HUMAN :
  • Contains 1 dynamin-type G (guanine nucleotide-binding) domain.
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. Mitofusin subfamily.
Domain:
  • Contains 1 dynamin-type G (guanine nucleotide-binding) domain.
Family:
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. Mitofusin subfamily.
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

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

Human Phenotype Ontology for MFN2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MFN2 Gene

MGI Knock Outs for MFN2:

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
cytosol 5
mitochondrion 5
cytoskeleton 3
endoplasmic reticulum 2
nucleus 1

Gene Ontology (GO) - Cellular Components for MFN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005741 mitochondrial outer membrane IEA,TAS --
GO:0005829 cytosol ISS --
genes like me logo Genes that share ontologies with MFN2: view

Pathways & Interactions for MFN2 Gene

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

Pathways by source for MFN2 Gene

SIGNOR curated interactions for MFN2 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for MFN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001825 blastocyst formation IEA --
GO:0006626 protein targeting to mitochondrion IDA 11181170
GO:0006915 apoptotic process IEA --
GO:0007006 mitochondrial membrane organization IDA 11181170
GO:0007050 NOT cell cycle arrest ISS --
genes like me logo Genes that share ontologies with MFN2: view

Drugs & Compounds for MFN2 Gene

(2) Drugs for MFN2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(3) Additional Compounds for MFN2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
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 (x5.7).

Protein differential expression in normal tissues from HIPED for MFN2 Gene

This gene is overexpressed in Breast (15.2), Peripheral blood mononuclear cells (8.0), and Cervix (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with MFN2: view

Protein tissue co-expression partners for MFN2 Gene

Primer Products

In Situ Assay Products

Orthologs for MFN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MFN2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MFN2 35
  • 91.72 (n)
  • 96.7 (a)
MFN2 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MFN2 35
  • 90.93 (n)
  • 96.96 (a)
MFN2 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mfn2 35
  • 89.96 (n)
  • 94.98 (a)
Mfn2 16
Mfn2 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MFN2 35
  • 99.43 (n)
  • 99.74 (a)
MFN2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100911485 35
  • 90.09 (n)
  • 95.51 (a)
oppossum
(Monodelphis domestica)
Mammalia MFN2 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 85 (a)
OneToMany
-- 36
  • 89 (a)
OneToMany
chicken
(Gallus gallus)
Aves MFN2 35
  • 80.04 (n)
  • 91.52 (a)
MFN2 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MFN2 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mfn2 35
  • 74.87 (n)
  • 85.71 (a)
zebrafish
(Danio rerio)
Actinopterygii mfn2 35
  • 76.31 (n)
  • 82.96 (a)
mfn2 36
  • 82 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta fzo 37
  • 33 (a)
Marf 37
  • 46 (a)
Marf 35
  • 57.8 (n)
  • 49.03 (a)
fzo 36
  • 34 (a)
ManyToMany
Marf 36
  • 42 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001802 35
  • 57.01 (n)
  • 51.17 (a)
worm
(Caenorhabditis elegans)
Secernentea ZK1248.14 37
  • 35 (a)
fzo-1 35
  • 46.26 (n)
  • 36.71 (a)
fzo-1 36
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2520 36
  • 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

(4) 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
rs28940296 Charcot-Marie-Tooth disease 2A2 (CMT2A2) 11,992,584(+) ACCCC(A/G/T)TTACC reference, missense
rs28940293 Charcot-Marie-Tooth disease 2A2 (CMT2A2) 11,992,606(+) GGTTC(C/G/T)GGACG reference, missense
rs28940291 Charcot-Marie-Tooth disease 2A2 (CMT2A2) 11,992,660(+) GGCTC(A/G)GAGGC reference, missense
rs28940295 Charcot-Marie-Tooth disease 2A2 (CMT2A2) 11,999,030(+) CCCGG(C/G)CAAAC reference, missense
rs28940294 Charcot-Marie-Tooth disease 2A2 (CMT2A2) 12,001,423(+) GGAGC(A/G)TTGTA reference, missense

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

Variation tolerance for MFN2 Gene

Residual Variation Intolerance Score: 3.58% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.73; 32.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MFN2 Gene

HapMap Linkage Disequilibrium report
MFN2
Human Gene Mutation Database (HGMD)
MFN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MFN2 Gene

Disorders for MFN2 Gene

MalaCards: The human disease database

(29) MalaCards diseases for MFN2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MFN2 in MalaCards View complete list of genes associated with diseases

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.
  • Neuropathy, hereditary motor and sensory, 6A (HMSN6A) [MIM:601152]: An autosomal dominant neurologic disorder characterized by optic atrophy and peripheral sensorimotor neuropathy manifesting as axonal Charcot-Marie-Tooth disease. 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, and normal or slightly reduced nerve conduction velocities. {ECO:0000269 PubMed:16437557}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MFN2

Genetic Association Database (GAD)
MFN2
Human Genome Epidemiology (HuGE) Navigator
MFN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MFN2
genes like me logo Genes that share disorders with MFN2: view

No data available for Genatlas for MFN2 Gene

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 67
  2. Phenotypic spectrum of MFN2 mutations in the Spanish population. (PMID: 19889647) Casasnovas C. … Volpini V. (J. Med. Genet. 2010) 3 23
  3. Subjects with early-onset type 2 diabetes show defective activation of the skeletal muscle PGC-1{alpha}/Mitofusin-2 regulatory pathway in response to physical activity. (PMID: 20032281) HernA!ndez-Alvarez M.I. … Nolan J.J. (Diabetes Care 2010) 3 23
  4. Mechanisms of disease and clinical features of mutations of the gene for mitofusin 2: an important cause of hereditary peripheral neuropathy with striking clinical variability in children and adults. (PMID: 20163430) Ouvrier R. … Grew S. (Dev Med Child Neurol 2010) 3 23
  5. MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families. (PMID: 20350294) Braathen G.J. … Russell M.B. (BMC Med. Genet. 2010) 3 23

Products for MFN2 Gene

Sources for MFN2 Gene

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