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... See more...

Aliases for MFN2 Gene

Aliases for MFN2 Gene

  • Mitofusin 2 2 3 5
  • CPRP1 2 3 4
  • Transmembrane GTPase MFN2 3 4
  • Mitofusin-2 3 4
  • KIAA0214 2 4
  • CMT2A2 2 3
  • MARF 2 3
  • Mitochondrial Assembly Regulatory Factor 3
  • Hyperplasia Suppressor 3
  • EC 3.6.5.- 4
  • EC 3.6.5 50
  • CMT2A2A 3
  • CMT2A2B 3
  • HMSN6A 3
  • CMT2A 3
  • MFN2 5
  • 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 Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy and Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2a. Among its related pathways are Pathways of neurodegeneration - multiple diseases and Response to elevated platelet cytosolic Ca2+. Gene Ontology (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 Summary for MFN2 Gene

  • Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion (PubMed:11181170, PubMed:11950885, PubMed:26214738, PubMed:28114303). Mitochondria are highly dynamic organelles, and their morphology is determined by the equilibrium between mitochondrial fusion and fission events (PubMed:28114303). Overexpression induces the formation of mitochondrial networks (PubMed:28114303). Membrane clustering requires GTPase activity and may involve a major rearrangement of the coiled coil domains (Probable). Plays a central role in mitochondrial metabolism and may be associated with obesity and/or apoptosis processes (By similarity). Plays an important role in the regulation of vascular smooth muscle cell proliferation (By similarity). Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy) (PubMed:23620051). Is required for PRKN recruitment to dysfunctional mitochondria (PubMed:23620051). Involved in the control of unfolded protein response (UPR) upon ER stress including activation of apoptosis and autophagy during ER stress (By similarity). Acts as an upstream regulator of EIF2AK3 and suppresses EIF2AK3 activation under basal conditions (By similarity).

Gene Wiki entry for MFN2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MFN2 Gene

Genomics for MFN2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MFN2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J011978 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 320.6 +2.6 2551 8.6 BCLAF1 SP1 ZNF207 IKZF1 MYC NCOR1 ZNF600 SIX5 JUND ZNF580 MFN2 TARDBP EXOSC10 ENSG00000226849 MIIP TNFRSF1B PLOD1 CLCN6 KIAA2013 RNU5E-4P
GH01J011989 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 72.9 +10.4 10436 2.4 ATF3 YY1 HOMEZ FOXA2 RXRA SAP130 TEAD3 ZBTB33 FOSL2 ZNF205 MFN2 PLOD1 MIIP KIAA2013 RNU5E-1 RNU5E-4P NPPB NPPA RF00017-060 NONHSAG000387.2
GH01J012014 Enhancer 1.2 Ensembl ENCODE dbSUPER 59.9 +34.2 34153 2.3 IKZF1 NCOR1 ZNF592 HES1 TBP MNT MAFF NBN TAL1 ZNF316 MFN2 MIIP KIAA2013 ENSG00000270914 MN308906
GH01J012003 Enhancer 1.2 Ensembl ENCODE dbSUPER 50.2 +24.9 24911 2.8 ZNF600 NCOR1 IKZF1 ZNF592 NFIC NONO REST BHLHE40 ARNT TARDBP piR-57460-013 MFN2 PLOD1 piR-54764-005 MIIP
GH01J012001 Enhancer 1 Ensembl ENCODE dbSUPER 56.3 +21.7 21748 1.3 ZNF600 ZNF592 CEBPB REST TRIM22 CTCF NBN SMC3 RAD21 EP400 RF00017-060 piR-57460-013 MFN2 PLOD1 MIIP NONHSAG000387.2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MFN2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MFN2

Top Transcription factor binding sites by QIAGEN in the MFN2 gene promoter:
  • AREB6
  • c-Ets-1
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2
  • LyF-1
  • PPAR-alpha
  • SRF

Genomic Locations for MFN2 Gene

Latest Assembly
chr1:11,980,181-12,015,211
(GRCh38/hg38)
Size:
35,031 bases
Orientation:
Plus strand

Previous Assembly
chr1:12,040,501-12,073,565
(GRCh37/hg19 by Entrez Gene)
Size:
33,065 bases
Orientation:
Plus strand

chr1:12,040,238-12,073,571
(GRCh37/hg19 by Ensembl)
Size:
33,334 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 (PubMed:26085578). Oligomerization is essential for mitochondrion fusion (Probable). Interacts with VAT1 (By similarity). Interacts with STOML2; may form heterooligomers (PubMed:17121834). Interacts (phosphorylated) with PRKN (PubMed:23620051). Interacts with EIF2AK3 (By similarity). Interacts with THG1L; THG1L probably functions as a guanyl-nucleotide exchange factor/GEF, activating MFN2.
    SequenceCaution:
    • Sequence=BAA34389.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAB70866.2; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MFN2 Gene

    Alternative splice isoforms for MFN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MFN2 Gene

Selected DME Specific Peptides for MFN2 Gene

O95140:
  • FEECISQSAVKTKF
  • KLLRNKA
  • LPSGIGHTTNCF
  • FILNNRWD
  • TGLASLTSRTSMGI
  • KAQGMPEGGGALAEGFQ
  • LCADFQED

Post-translational modifications for MFN2 Gene

  • Phosphorylated by PINK1.
  • Ubiquitinated by non-degradative ubiquitin by PRKN, promoting mitochondrial fusion; deubiquitination by USP30 inhibits mitochondrial fusion (PubMed:23620051). Ubiquitinated by HUWE1 when dietary stearate (C18:0) levels are low; ubiquitination inhibits mitochondrial fusion (PubMed:26214738).
  • Ubiquitination at Lys406, Lys416, and Lys420
  • Modification sites at PhosphoSitePlus

Domains & Families for MFN2 Gene

Gene Families for MFN2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for MFN2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ11885 fis, clone HEMBA1007203, highly similar to Transmembrane GTPase MFN2 (EC 3.6.5.-) (A6NLD2_HUMAN)
  • Transmembrane GTPase MFN2 (MFN2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95140

UniProtKB/Swiss-Prot:

MFN2_HUMAN :
  • A helix bundle is formed by helices from the N-terminal and the C-terminal part of the protein. The GTPase domain cannot be expressed by itself, without the helix bundle. Rearrangement of the helix bundle and/or of the coiled coil domains may bring membranes from adjacent mitochondria into close contact, and thereby play a role in mitochondrial fusion.
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. Mitofusin subfamily.
Domain:
  • A helix bundle is formed by helices from the N-terminal and the C-terminal part of the protein. The GTPase domain cannot be expressed by itself, without the helix bundle. Rearrangement of the helix bundle and/or of the coiled coil domains may bring membranes from adjacent mitochondria into close contact, and thereby play a role in mitochondrial fusion.
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

Function for MFN2 Gene

Molecular function for MFN2 Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion (PubMed:11181170, PubMed:11950885, PubMed:26214738, PubMed:28114303). Mitochondria are highly dynamic organelles, and their morphology is determined by the equilibrium between mitochondrial fusion and fission events (PubMed:28114303). Overexpression induces the formation of mitochondrial networks (PubMed:28114303). Membrane clustering requires GTPase activity and may involve a major rearrangement of the coiled coil domains (Probable). Plays a central role in mitochondrial metabolism and may be associated with obesity and/or apoptosis processes (By similarity). Plays an important role in the regulation of vascular smooth muscle cell proliferation (By similarity). Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy) (PubMed:23620051). Is required for PRKN recruitment to dysfunctional mitochondria (PubMed:23620051). Involved in the control of unfolded protein response (UPR) upon ER stress including activation of apoptosis and autophagy during ER stress (By similarity). Acts as an upstream regulator of EIF2AK3 and suppresses EIF2AK3 activation under basal conditions (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=GTP + H2O = GDP + H(+) + phosphate; Xref=Rhea:RHEA:19669, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:58189;.

Enzyme Numbers (IUBMB) for MFN2 Gene

Phenotypes From GWAS Catalog for MFN2 Gene

Gene Ontology (GO) - Molecular Function for MFN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA,IBA 21873635
GO:0005515 protein binding IPI 16936636
GO:0005525 GTP binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with MFN2: view
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:
  • Mfn2 Mfn2<tm1Dcc>
  • Mfn2 Mfn2<tm1.1Balo>
  • Mfn2 Mfn2<tm1b(EUCOMM)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MFN2

No data available for 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. {ECO:0000269 PubMed:12499352}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MFN2 gene
Compartment Confidence
mitochondrion 5
cytosol 5
endoplasmic reticulum 3
plasma membrane 2
extracellular 2
cytoskeleton 2
peroxisome 2
nucleus 2
endosome 2
lysosome 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MFN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 11181170
GO:0005741 mitochondrial outer membrane IEA,TAS --
GO:0005829 cytosol ISS --
GO:0015630 microtubule cytoskeleton IDA --
GO:0016020 membrane IEA --
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

SIGNOR curated interactions for MFN2 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MFN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001825 blastocyst formation IMP --
GO:0006626 protein targeting to mitochondrion IDA 11181170
GO:0006914 autophagy IEA --
GO:0006915 apoptotic process IEA --
GO:0006986 response to unfolded protein IEA --
genes like me logo Genes that share ontologies with MFN2: view

Drugs & Compounds for MFN2 Gene

(4) Drugs for MFN2 Gene - From: HMDB

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

(1) Additional Compounds for MFN2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MFN2: view

Transcripts for MFN2 Gene

mRNA/cDNA for MFN2 Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
33 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MFN2

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

Expression for MFN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for MFN2 Gene



Protein tissue co-expression partners for MFN2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MFN2

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.

Evidence on tissue expression from TISSUES for MFN2 Gene

  • Nervous system(5)
  • Pancreas(4.5)
  • Bone marrow(4.4)
  • Muscle(3.9)
  • Heart(3.8)
  • Skin(3.5)
  • Lung(3.4)
  • Liver(3.1)
  • Kidney(2.9)
  • Eye(2.6)
  • Stomach(2.5)
  • Intestine(2.5)
  • Blood(2.5)
  • Thyroid gland(2.4)
  • Adrenal gland(2.3)
  • Spleen(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MFN2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • larynx
  • neck
  • nose
  • olfactory bulb
  • vocal cord
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • arm
  • digit
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • toe
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns 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 29 30
  • 99.43 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MFN2 30
  • 92 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia MFN2 29 30
  • 91.72 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MFN2 29 30
  • 90.93 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mfn2 29
  • 90.09 (n)
Mouse
(Mus musculus)
Mammalia Mfn2 29 16 30
  • 89.96 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 89 (a)
OneToMany
-- 30
  • 85 (a)
OneToMany
Chicken
(Gallus gallus)
Aves MFN2 29 30
  • 80.04 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MFN2 30
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mfn2 29
  • 74.87 (n)
Zebrafish
(Danio rerio)
Actinopterygii mfn2 29 30
  • 76.31 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Marf 29 30 31
  • 57.8 (n)
ManyToMany
fzo 30 31
  • 34 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001802 29
  • 57.01 (n)
Worm
(Caenorhabditis elegans)
Secernentea fzo-1 29 30
  • 46.26 (n)
OneToMany
ZK1248.14 31
  • 35 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2520 30
  • 51 (a)
OneToMany
Species where no ortholog for MFN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MFN2: view image
Alliance of Genome Resources:
Additional Orthologs for MFN2

Paralogs for MFN2 Gene

Paralogs for MFN2 Gene

(4) SIMAP similar genes for MFN2 Gene using alignment to 2 proteins:

  • MFN2_HUMAN
  • Q5JXC5_HUMAN
genes like me logo Genes that share paralogs with MFN2: view

Variants for MFN2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MFN2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1000842 Uncertain Significance: Charcot-Marie-Tooth disease, type 2 12,006,682(+) G/A
NM_014874.4(MFN2):c.1861G>A (p.Val621Ile)
MISSENSE
1005198 Uncertain Significance: Charcot-Marie-Tooth disease, type 2 11,989,232(+) G/T
NM_014874.4(MFN2):c.64G>T (p.Ala22Ser)
MISSENSE
1005589 Uncertain Significance: Charcot-Marie-Tooth disease, type 2 11,989,286(+) A/G
NM_014874.4(MFN2):c.118A>G (p.Asn40Asp)
MISSENSE
1006464 Uncertain Significance: Charcot-Marie-Tooth disease, type 2 12,007,161(+) T/C
NM_014874.4(MFN2):c.1981T>C (p.Phe661Leu)
MISSENSE
1008407 Uncertain Significance: Charcot-Marie-Tooth disease, type 2 11,999,093(+) G/A
NM_014874.4(MFN2):c.814G>A (p.Glu272Lys)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MFN2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv2672640 CNV deletion 23128226
esv2743785 CNV deletion 23290073
esv3304719 CNV mobile element insertion 20981092
esv3361336 CNV insertion 20981092
nsv1113077 CNV deletion 24896259
nsv470693 CNV loss 18288195
nsv945771 CNV duplication 23825009

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)

Additional Variant Information for MFN2 Gene

Human Gene Mutation Database (HGMD)
MFN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MFN2
Leiden Open Variation Database (LOVD)
MFN2

SNP Genotyping and Copy Number Assays for research

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

Disorders for MFN2 Gene

MalaCards: The human disease database

(77) MalaCards diseases for MFN2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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 2A2B (CMT2A2B) [MIM:617087]: 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. CMT2A2B is a severe form with autosomal recessive inheritance. {ECO:0000269 PubMed:18458227, ECO:0000269 PubMed:20350294, ECO:0000269 PubMed:21715711, ECO:0000269 PubMed:26085578, ECO:0000269 PubMed:26955893}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease 2A2A (CMT2A2A) [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. {ECO:0000269 PubMed:15064763, ECO:0000269 PubMed:15549395, ECO:0000269 PubMed:16762064, ECO:0000269 PubMed:20350294, ECO:0000269 PubMed:22206013}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Neuropathy, hereditary motor and sensory, 6A, with optic atrophy (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, ECO:0000269 PubMed:20350294, ECO:0000269 PubMed:24604904, ECO:0000269 PubMed:26085578}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for MFN2

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No data available for Genatlas for MFN2 Gene

Publications for MFN2 Gene

  1. MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families. (PMID: 20350294) Braathen GJ … Russell MB (BMC medical genetics 2010) 3 4 22 40 72
  2. Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. (PMID: 20008656) Calvo J … Magdelaine C (Archives of neurology 2009) 3 22 40 72
  3. Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. (PMID: 18458227) Nicholson GA … Ouvrier RA (Neurology 2008) 3 4 22 72
  4. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. (PMID: 16437557) Züchner S … Vance JM (Annals of neurology 2006) 3 4 22 72
  5. Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. (PMID: 15549395) Kijima K … Hayasaka K (Human genetics 2005) 3 4 22 72

Products for MFN2 Gene

  • Addgene plasmids for MFN2

Sources for MFN2 Gene