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This gene encodes an outer mitochondrial membrane protein that functions in the regulation of mitochondrial morphology. It can directly recruit the fission mediator dynamin-related protein 1 (Drp1) to the mitochondrial surface. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]
MIEF2 (Mitochondrial Elongation Factor 2) is a Protein Coding gene. Diseases associated with MIEF2 include Combined Oxidative Phosphorylation Deficiency 49 and Smith-Magenis Syndrome. An important paralog of this gene is MIEF1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 16189514 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IEA,IDA | 23921378 |
GO:0005741 | mitochondrial outer membrane | IBA,IDA | 21508961 |
GO:0005777 | NOT peroxisome | TAS | 23921378 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003374 | dynamin family protein polymerization involved in mitochondrial fission | IDA | 23530241 |
GO:0007005 | mitochondrion organization | IDA | 21508961 |
GO:0008053 | NOT mitochondrial fusion | IMP | 23921378 |
GO:0010821 | regulation of mitochondrion organization | IMP | 29361167 |
GO:0090141 | positive regulation of mitochondrial fission | IBA,TAS | 23921378 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
duloxetine | Approved | Pharma | 0 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | · | 4d | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | · | 7d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | ||||||||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | |||||||||||||||||||||||||||||||||
SP6: | - | - | - | ||||||||||||||||||||||||||||||||||
SP7: | - | ||||||||||||||||||||||||||||||||||||
SP8: | - | - | |||||||||||||||||||||||||||||||||||
SP9: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SMCR7 30 |
|
||
MIEF2 31 |
|
OneToOne | |||
Dog (Canis familiaris) |
Mammalia | SMCR7 30 |
|
||
MIEF2 31 |
|
OneToOne | |||
Mouse (Mus musculus) |
Mammalia | Mief2 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MIEF2 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mief2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | MIEF2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MIEF2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SMCR7 30 |
|
||
MIEF2 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | MIEF2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mief2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mief2 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
978475 | Pathogenic: Combined oxidative phosphorylation deficiency 49 | 18,263,179(+) |
C/T NM_139162.4(MIEF2):c.241C>T (p.Gln81Ter) |
NONSENSE | |
rs12603700 | - |
p.Gly324Glu |
|||
rs3751981 | - |
p.Arg354Gln |
Disorder | Aliases | PubMed IDs |
---|---|---|
combined oxidative phosphorylation deficiency 49 |
|
|
smith-magenis syndrome |
|
|
optic atrophy 1 |
|
|
encephalopathy due to defective mitochondrial and peroxisomal fission 1 |
|
|
3-methylglutaconic aciduria, type iii |
|
|