Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes a protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mitochondrial membrane. Mutations in this gene can cause mitochondrial complex IV deficiency, which results in ataxia and muscle hypotonia. There are multiple pseudogenes for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
COX20 (Cytochrome C Oxidase Assembly Factor COX20) is a Protein Coding gene. Diseases associated with COX20 include Mitochondrial Complex Iv Deficiency and Hypotonia. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Gene Expression.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 23125284 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IBA,IDA | -- |
GO:0005743 | mitochondrial inner membrane | IDA | 23125284 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
.40
|
|
2 | Gene Expression |
.48
|
|
3 | Metabolism |
.40
|
|
4 | TP53 Regulates Metabolic Genes | ||
5 | Regulation of TP53 Activity |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0033617 | mitochondrial respiratory chain complex IV assembly | IBA,IMP | 23125284 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | COX20 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | COX20 30 |
|
||
FAM36A 31 |
|
OneToOne | |||
Dog (Canis familiaris) |
Mammalia | COX20 30 |
|
||
Rat (Rattus norvegicus) |
Mammalia | Cox20 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Cox20 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | COX20 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | COX20 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | COX20 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | COX20 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100497666 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | zgc:92598 30 |
|
||
COX20 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | l(3)87Df 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
673679 | Likely Benign: not provided | 244,842,507(+) | C/T | INTRON_VARIANT | |
683598 | Benign: not provided | 244,841,783(+) | G/C | INTRON_VARIANT | |
683599 | Benign: not provided | 244,842,411(+) | A/C | INTRON_VARIANT | |
683601 | Benign: not provided | 244,842,526(+) | C/T | INTRON_VARIANT | |
683603 | Benign: not provided | 244,842,539(+) | T/A | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2669232 | CNV | deletion | 23128226 |
esv2726684 | CNV | deletion | 23290073 |
nsv549493 | CNV | gain | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
mitochondrial complex iv deficiency |
|
|
hypotonia |
|
|
transient neonatal thrombocytopenia |
|
|
transient neonatal neutropenia |
|
|
leigh syndrome |
|
|