Aliases for MFN2 Gene
Aliases for MFN2 Gene
External Ids for MFN2 Gene
- HGNC: 16877
- Entrez Gene: 9927
- Ensembl: ENSG00000116688
- OMIM: 608507
- UniProtKB: O95140
Previous GeneCards Identifiers for MFN2 Gene
- GC01P012104
- GC01P011885
- GC01P011649
- GC01P011749
- GC01P011974
- GC01P012040
- GC01P011195
Summaries 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, Type 2A2 and Hereditary Motor And Sensory Neuropathy Via. Among its related pathways are Mitophagy - animal and Pink/Parkin Mediated Mitophagy. 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 PARK2 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).
No data available for CIViC summary , 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
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around MFN2 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the MFN2 gene promoter:
Regulatory Element Products
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:
-
- 1p36.22 by Ensembl
- 1p36.22 by Entrez Gene
- 1p36.22 by HGNC
MFN2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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 (By similarity). Oligomerization is essential for mitochondrion fusion (Probable). Interacts with VAT1 (By similarity). Interacts with STOML2; may form heterooligomers (PubMed:17121834). Interacts (phosphorylated) with PARK2 (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};
Protein Expression 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 PARK2, promoting mitochondrial fusion; deubiquitination by USP30 inhibits mitochondrial fusion.
- Ubiquitination at Lys406, posLast=416416, and posLast=420420
- Modification sites at PhosphoSitePlus
Other Protein References for MFN2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for MFN2 (Mitofusin 2)
- Cell Signaling Technology (CST) Antibodies for MFN2 (MFN2)
-
Custom Antibody ServicesOriGene Antibodies for MFN2
- Novus Biologicals Antibodies for MFN2
- Invitrogen Antibodies for MFN2
- antibodies-online Antibodies for MFN2: See all 133
- GeneTex MFN2 antibody for MFN2
-
Custom Antibody ServicesProSci Antibodies for MFN2
-
Santa Cruz Biotechnology (SCBT) Antibodies for MFN2
Protein Products
-
OriGene Purified Proteins for MFN2
- Search Origene for MassSpec and Protein Over-expression Lysates for MFN2
- Origene Custom Protein Services for MFN2
- antibodies-online Proteins for MFN2: See all 5
- Search antibodies-online for peptides
- Search GeneTex for Proteins for MFN2
Domains & Families for MFN2 Gene
Protein Domains for MFN2 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for MFN2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O95140UniProtKB/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.
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:
- 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 PARK2 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).
Enzyme Numbers (IUBMB) 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 |
Phenotypes for MFN2 Gene
- MGI mutant phenotypes for MFN2:
- inferred from 6 alleles
- GenomeRNAi human phenotypes for MFN2:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for MFN2
-
-
ViGene Biosciences lentiviral particle packaged cDNA for MFN2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for MFN2 gene
- Search ViGene Biosciences for MFN2
CRISPR Products
-
OriGene CRISPR knockouts for MFN2
-
Santa Cruz Biotechnology (SCBT) CRISPR for MFN2
- GenScript: Design CRISPR guide RNA sequences for MFN2
miRNA for MFN2 Gene
- miRTarBase miRNAs that target MFN2
-
- hsa-mir-1-3p (MIRT023877)
- hsa-mir-16-5p (MIRT031906)
- hsa-mir-193b-3p (MIRT041312)
- hsa-mir-484 (MIRT041972)
- hsa-mir-99b-5p (MIRT044188)
- hsa-mir-221-3p (MIRT046976)
- hsa-mir-34a-5p (MIRT047398)
- hsa-mir-93-5p (MIRT048771)
- hsa-mir-92a-3p (MIRT049714)
- hsa-mir-1260b (MIRT052698)
- hsa-mir-3619-5p (MIRT052861)
- hsa-mir-106b-5p (MIRT438678)
- hsa-mir-218-5p (MIRT440249)
- hsa-mir-4303 (MIRT512544)
- hsa-mir-6826-3p (MIRT512545)
- hsa-mir-3156-3p (MIRT512546)
- hsa-mir-610 (MIRT512547)
- hsa-mir-6751-3p (MIRT512548)
- hsa-mir-1199-5p (MIRT512549)
- hsa-mir-4653-5p (MIRT512550)
- hsa-mir-3921 (MIRT512551)
- hsa-mir-532-3p (MIRT512552)
- hsa-mir-2276-5p (MIRT512553)
- hsa-mir-6795-3p (MIRT512554)
- hsa-mir-6887-3p (MIRT512555)
- hsa-mir-4301 (MIRT512556)
- hsa-mir-483-3p (MIRT512557)
- hsa-mir-6792-3p (MIRT535963)
- hsa-mir-4691-5p (MIRT535964)
miRNA Products
- Search ViGene Biosciences for MFN2
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for MFN2
- Browse OriGene Inhibitory RNA Products For MFN2
-
ViGene Biosciences ready-to-package AAV shRNAs for MFN2 gene
Clone Products
- Sino Biological Human cDNA Clone for MFN2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for MFN2
- VectorBuilder custom plasmid, inducible vectors for MFN2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MFN2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for MFN2
-
ViGene Biosciences adenoviral particle packaged cDNA for MFN2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for MFN2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for MFN2 gene
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}.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| cytosol | 5 |
| cytoskeleton | 3 |
| endoplasmic reticulum | 2 |
| peroxisome | 1 |
| nucleus | 1 |
| lysosome | 1 |
| 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 | -- |
Pathways & Interactions for MFN2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Pink/Parkin Mediated Mitophagy |
1.00
|
|
| 2 | Mitophagy - animal | ||
| 3 | Toll-Like receptor Signaling Pathways | ||
| 4 | Glucose / Energy Metabolism | ||
| 5 | Factors involved in megakaryocyte development and platelet production | ||
Pathways by source for MFN2 Gene
1 Cell Signaling Technology pathway for MFN2 Gene
4 Reactome pathways for MFN2 Gene
2 KEGG pathways for MFN2 Gene
Interacting Proteins for MFN2 Gene
Selected Interacting proteins:
ENSP00000235329
O95140-MFN2_HUMAN
for MFN2 Gene via
STRING
MINT
IID
UniProtKB
| 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 | -- |
Transcripts for MFN2 Gene
mRNA/cDNA for MFN2 Gene
- (6) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (476) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for MFN2
-
Santa Cruz Biotechnology (SCBT) CRISPR for MFN2
- GenScript: Design CRISPR guide RNA sequences for MFN2
miRNA Products
- Search ViGene Biosciences for MFN2
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for MFN2
- Browse OriGene Inhibitory RNA Products For MFN2
-
ViGene Biosciences ready-to-package AAV shRNAs for MFN2 gene
Clone Products
- Sino Biological Human cDNA Clone for MFN2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for MFN2
- VectorBuilder custom plasmid, inducible vectors for MFN2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MFN2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
| 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: |
Expression 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).
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, MaxQB, and MOPED for MFN2 Gene
NURSA nuclear receptor signaling pathways regulating expression of MFN2 Gene:
MFN2SOURCE GeneReport for Unigene cluster for MFN2 Gene:
Hs.376681mRNA 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)
- Skin(2.6)
- Liver(2.5)
- Kidney(2.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for MFN2 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- nervous
- respiratory
- skeletal muscle
- skeleton
Organs:
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
Primer Products
-
OriGene qPCR primer pairs and template standards for MFN2
-
OriGene qPCR primer pairs for MFN2
Orthologs for MFN2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MFN2 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | MFN2 35 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | MFN2 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | MFN2 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | LOC100911485 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Mfn2 34 16 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | MFN2 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | MFN2 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | mfn2 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | mfn2 34 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Marf 36 34 35 |
|
||
| fzo 36 35 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001802 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | fzo-1 34 35 |
|
||
| ZK1248.14 36 |
|
|
|||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.2520 35 |
|
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)
Paralogs for MFN2 Gene
(4) SIMAP similar genes for MFN2 Gene using alignment to 2 proteins:
Variants for MFN2 Gene
| SNP ID | Clin | Chr 01 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs119103261 | Pathogenic, Charcot-Marie-Tooth disease 2A2A (CMT2A2A) [MIM:609260] | 12,002,014(+) | ACCAA(C/G)TTTGA | reference, missense | |
| rs119103263 | Pathogenic, Neuropathy, hereditary motor and sensory, 6A (HMSN6A) [MIM:601152] | 11,992,659(+) | TGGCT(C/T)GGAGG | reference, missense | |
| rs119103264 | Pathogenic, Neuropathy, hereditary motor and sensory, 6A (HMSN6A) [MIM:601152] | 12,001,411(+) | GCGGC(A/G)GCACA | reference, missense | |
| rs119103265 | Pathogenic, Charcot-Marie-Tooth disease 2A2A (CMT2A2A) [MIM:609260], Neuropathy, hereditary motor and sensory, 6A (HMSN6A) [MIM:601152] | 12,002,033(+) | CGGTC(C/T)GGGCC | reference, missense | |
| rs119103266 | Pathogenic, Neuropathy, hereditary motor and sensory, 6A (HMSN6A) [MIM:601152] | 11,998,787(+) | TGTCA(C/T)CACAG | reference, missense |
| 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MFN2 Gene
Disorders for MFN2 Gene
(35) MalaCards diseases for MFN2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| charcot-marie-tooth disease, type 2a2 |
|
|
| hereditary motor and sensory neuropathy via |
|
|
| charcot-marie-tooth disease 2a2b |
|
|
| lipomatosis, multiple symmetric |
|
|
| severe early-onset axonal neuropathy due to mfn2 deficiency |
|
|
Search MFN2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
MFN2_HUMAN- 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:22206013}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- 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:21715711, ECO:0000269 PubMed:26955893}. 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
No data available for Genatlas for MFN2 Gene
Publications for MFN2 Gene
- Control of mitochondrial morphology by a human mitofusin. (PMID: 11181170) Santel A. … Fuller M.T. (J. Cell Sci. 2001) 2 3 4 22 64
- 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 22 46 64
- Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study. (PMID: 19754948) Wolf C. … Weisschuh N. (BMC Med. Genet. 2009) 3 22 46 64
- Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. (PMID: 20008656) Calvo J. … Magdelaine C. (Arch. Neurol. 2009) 3 22 46 64
- Identification of a novel mitochondrial complex containing mitofusin 2 and stomatin-like protein 2. (PMID: 17121834) Hajek P. … Attardi G. (J. Biol. Chem. 2007) 3 4 22 64
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