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

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
  • Mitofusin-2 3
  • EC 3.6.5.- 4
  • KIAA0214 4
  • CMT2A2A 3
  • CMT2A2B 3
  • 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 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2a and Neuropathy, Hereditary Motor And Sensory, Type Via. Among its related pathways are Pink/Parkin Mediated Mitophagy 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 for MFN2 Gene

  • Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion (PubMed:11181170, PubMed:11950885, 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

Additional gene information for MFN2 Gene

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

Genomics for MFN2 Gene

GeneHancer (GH) Regulatory Elements for MFN2 Gene

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 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 720.7 +2.6 2551 8.6 CLOCK MLX ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC MFN2 EXOSC10 ENSG00000226849 TARDBP MIIP TNFRSF1B PLOD1 CLCN6 KIAA2013 RNU5E-4P
GH01J011989 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 72.8 +10.3 10328 2.2 FOXA2 ETS1 YY1 EGR1 RXRA REST PPARG SP1 MXD3 ZBTB33 MFN2 MIIP PLOD1 KIAA2013 RNU5E-1 RNU5E-4P NPPB NPPA ENSG00000270914
GH01J012003 Enhancer 1.1 ENCODE dbSUPER 50.2 +24.9 24911 2.8 HDGF PKNOX1 ATF1 ARNT IRF4 TCF12 GATA2 ZFP91 ATF7 RUNX3 MFN2 PLOD1 ENSG00000270914
GH01J012014 Enhancer 1.3 Ensembl ENCODE dbSUPER 41.4 +34.6 34586 1.4 HDAC1 ZBTB40 EGR1 POLR3A CREM SMARCA5 ZBTB11 REST ELF1 ZNF592 MFN2 EXOSC10 MTOR VPS13D ENSG00000226849 ENSG00000271895 MIIP KIAA2013 ENSG00000270914
GH01J012001 Enhancer 0.9 ENCODE dbSUPER 56.3 +21.7 21712 1.2 HDAC1 CTCF KLF1 TEAD4 CEBPG E4F1 RAD21 CTBP1 ZNF143 ATF7 MFN2 PLOD1 ENSG00000270914
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MFN2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MFN2 gene promoter:

Genomic Locations for MFN2 Gene

Genomic Locations for MFN2 Gene
chr1:11,980,181-12,013,515
(GRCh38/hg38)
Size:
33,335 bases
Orientation:
Plus strand
chr1:12,040,238-12,073,572
(GRCh37/hg19)

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).
    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

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.
  • Ubiquitination at isoforms=2420, isoforms=2416, and posLast=406406
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MFN2 Gene

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

Protein Domains for MFN2 Gene

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: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:
GTP + H(2)O = GDP + phosphate.

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:0003924 GTPase activity IBA --
GO:0005515 protein binding IPI 17121834
GO:0005525 GTP binding IEA --
GO:0016787 hydrolase activity 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

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<tm1.1Balo>
  • Mfn2 Mfn2<tm1Dcc>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Addgene plasmids 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
cytoskeleton 3
endoplasmic reticulum 2
peroxisome 1
nucleus 1
lysosome 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:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MFN2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MFN2 Gene

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: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

(5) Drugs for MFN2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with MFN2: view

Transcripts for MFN2 Gene

Unigene Clusters for MFN2 Gene

Mitofusin 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
MFN2

Expression for MFN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of MFN2 Gene:

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)
  • Bone marrow(4.3)
  • Pancreas(4.2)
  • Muscle(3.8)
  • Heart(3.6)
  • Lung(3.1)
  • Liver(2.6)
  • Skin(2.6)
  • Kidney(2.3)
  • Eye(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 34 33
  • 99.43 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MFN2 34
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MFN2 34 33
  • 91.72 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MFN2 34 33
  • 90.93 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100911485 33
  • 90.09 (n)
mouse
(Mus musculus)
Mammalia Mfn2 16 34 33
  • 89.96 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 89 (a)
OneToMany
-- 34
  • 85 (a)
OneToMany
chicken
(Gallus gallus)
Aves MFN2 34 33
  • 80.04 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MFN2 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mfn2 33
  • 74.87 (n)
zebrafish
(Danio rerio)
Actinopterygii mfn2 34 33
  • 76.31 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Marf 34 35 33
  • 57.8 (n)
ManyToMany
fzo 34 35
  • 34 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001802 33
  • 57.01 (n)
worm
(Caenorhabditis elegans)
Secernentea fzo-1 34 33
  • 46.26 (n)
OneToMany
ZK1248.14 35
  • 35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2520 34
  • 51 (a)
OneToMany
Species where no ortholog for MFN2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MFN2: view image

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 from dbSNP and Humsavar for MFN2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1042837 benign, likely-benign, not specified, Hereditary motor and sensory neuropathy, Charcot-Marie-Tooth, Type 2 12,005,784(+) C/T coding_sequence_variant, synonymous_variant
rs1042842 benign, Hereditary motor and sensory neuropathy, Charcot-Marie-Tooth, Type 2 12,011,623(+) A/G 3_prime_UTR_variant
rs1060501915 pathogenic, Charcot-Marie-Tooth disease, type 2 11,998,842(+) GCTGGTGGC/GC coding_sequence_variant, frameshift
rs1060501916 uncertain-significance, Charcot-Marie-Tooth disease, type 2 12,009,615(+) A/G/T coding_sequence_variant, missense_variant
rs1060501917 uncertain-significance, Charcot-Marie-Tooth disease, type 2 12,011,512(+) T/G coding_sequence_variant, missense_variant

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MFN2 Gene

MalaCards: The human disease database

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

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. Nerve conduction velocities are normal or slightly reduced. 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 mutations 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. Nerve conduction velocities are normal or slightly reduced. {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 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, ECO:0000269 PubMed:20350294, ECO:0000269 PubMed:24604904, ECO:0000269 PubMed:26085578}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MFN2

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

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 44 58
  2. Control of mitochondrial morphology by a human mitofusin. (PMID: 11181170) Santel A … Fuller MT (Journal of cell science 2001) 2 3 4 22 58
  3. Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study. (PMID: 19754948) Wolf C … Weisschuh N (BMC medical genetics 2009) 3 22 44 58
  4. 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 44 58
  5. Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. (PMID: 18458227) Nicholson GA … Ouvrier RA (Neurology 2008) 3 4 22 58

Products for MFN2 Gene

Sources for MFN2 Gene

Content
Loading form....