Free for academic non-profit institutions. Other users need a Commercial license
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]
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 Response to elevated platelet cytosolic Ca2+ and Mitophagy - animal. Gene Ontology (GO) annotations related to this gene include GTP binding and ubiquitin protein ligase binding. An important paralog of this gene is MFN1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003924 | GTPase activity | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 16936636 |
GO:0005525 | GTP binding | IEA | -- |
GO:0016787 | hydrolase activity | IEA | -- |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Mitophagy |
1.00
|
|
2 | Glucose / Energy Metabolism | ||
3 | Mitophagy - animal | ||
4 | NOD-like receptor signaling pathway | ||
5 | Parkinson disease |
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 | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MFN2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MFN2 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MFN2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MFN2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mfn2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Mfn2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | MFN2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MFN2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mfn2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mfn2 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Marf 30 31 32 |
|
ManyToMany | |
fzo 31 32 |
|
ManyToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001802 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | fzo-1 30 31 |
|
OneToMany | |
ZK1248.14 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.2520 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
637061 | Uncertain Significance: Charcot-Marie-Tooth disease | 12,007,174(+) | T/C | MISSENSE_VARIANT | |
637062 | Uncertain Significance: Charcot-Marie-Tooth disease | 12,009,722(+) | C/G | MISSENSE_VARIANT | |
637063 | Pathogenic: Charcot-Marie-Tooth disease | 12,004,614(+) | G/A | SPLICE_DONOR_VARIANT | |
637064 | Pathogenic: Charcot-Marie-Tooth disease | 12,007,217(+) | C/G | NONSENSE | |
637279 | Pathogenic: Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease, type 2 | 11,999,055(+) | G/T | MISSENSE_VARIANT |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
neuropathy, hereditary motor and sensory, type via, with optic atrophy |
|
|
charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a |
|
|
charcot-marie-tooth disease, axonal, autosomal recessive, type 2a2b |
|
|
charcot-marie-tooth disease type 2a2a |
|
|
charcot-marie-tooth disease/hereditary motor and sensory neuropathy |
|
|