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MICU3 (Mitochondrial Calcium Uptake Family Member 3) is a Protein Coding gene. Diseases associated with MICU3 include Generalized Epilepsy With Febrile Seizures Plus, Type 6 and Optic Atrophy 3, Autosomal Dominant. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is MICU2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005509 | calcium ion binding | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IEA | -- |
GO:0005743 | mitochondrial inner membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006851 | mitochondrial calcium ion transmembrane transport | IEA,TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Nutra | 6556 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EFHA2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EFHA2 30 |
|
||
MICU3 31 |
|
OneToOne | |||
Dog (Canis familiaris) |
Mammalia | MICU3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Micu3 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MICU3 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Micu3 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | MICU3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | EFHA2 30 |
|
||
MICU3 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | MICU3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | micu3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | micu3a 30 31 |
|
OneToMany | |
MICU3 (1 of 2) 31 |
|
OneToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004179 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG4662 30 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | CELE_C56A3.6 30 |
|
||
C56A3.6 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10493 31 |
|
OneToMany |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv250e55 | CNV | gain | 17911159 |
dgv3786n106 | CNV | deletion | 24896259 |
esv1983650 | CNV | deletion | 18987734 |
esv2736679 | CNV | deletion | 23290073 |
esv2736680 | CNV | deletion | 23290073 |
esv2759599 | CNV | gain | 17122850 |
esv2761416 | CNV | gain | 21179565 |
esv3304421 | CNV | mobile element insertion | 20981092 |
esv3366766 | CNV | insertion | 20981092 |
esv3543151 | CNV | deletion | 23714750 |
esv3572603 | CNV | loss | 25503493 |
esv3572604 | CNV | loss | 25503493 |
esv5842 | CNV | loss | 19470904 |
esv6985 | CNV | gain | 19470904 |
nsv1018645 | CNV | gain | 25217958 |
nsv1074745 | CNV | deletion | 25765185 |
nsv396389 | CNV | deletion | 16902084 |
nsv8304 | CNV | gain+loss | 18304495 |
nsv831243 | CNV | gain | 17160897 |
nsv831244 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
generalized epilepsy with febrile seizures plus, type 6 |
|
|
optic atrophy 3, autosomal dominant |
|
|
cataract 3, multiple types |
|
|
charcot-marie-tooth disease, recessive intermediate a |
|
|
generalized epilepsy with febrile seizures plus, type 4 |
|
|