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Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimeric protein complex that requires several assembly factors; this gene encodes one of the COX assembly factors. The encoded protein is a metallochaperone that is involved in the biogenesis of cytochrome c oxidase subunit II. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy and myopia 6. [provided by RefSeq, Oct 2014]
SCO2 (Synthesis Of Cytochrome C Oxidase 2) is a Protein Coding gene. Diseases associated with SCO2 include Myopia 6 and Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 1. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Copper homeostasis. Gene Ontology (GO) annotations related to this gene include copper ion binding. An important paralog of this gene is SCO1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004645 | phosphorylase activity | IEA | -- |
GO:0005507 | copper ion binding | NAS | 10545952 |
GO:0005515 | protein binding | IPI | 24403053 |
GO:0015035 | protein disulfide oxidoreductase activity | IDA | 19336478 |
GO:0016763 | transferase activity, transferring pentosyl groups | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005739 | mitochondrion | TAS | 10545952 |
GO:0005743 | mitochondrial inner membrane | IEA | -- |
GO:0005759 | mitochondrial matrix | TAS | -- |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | ||
2 | Gene Expression |
.48
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3 | Central carbon metabolism in cancer | ||
4 | Metabolism |
.40
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5 | TP53 Regulates Metabolic Genes |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001654 | eye development | IMP | 23643385 |
GO:0001701 | in utero embryonic development | IEA | -- |
GO:0003012 | muscle system process | IEA | -- |
GO:0006206 | pyrimidine nucleobase metabolic process | IEA | -- |
GO:0006213 | pyrimidine nucleoside metabolic process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Copper | Approved, Investigational | Pharma | 249 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
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ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||
SP2: | - | ||||||||||||
SP3: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SCO2 30 |
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Cow (Bos Taurus) |
Mammalia | SCO2 30 |
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Dog (Canis familiaris) |
Mammalia | SCO2 30 |
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Mouse (Mus musculus) |
Mammalia | Sco2 30 17 |
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Chicken (Gallus gallus) |
Aves | SCO2 30 |
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Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100497895 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | sco2 30 |
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Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.1027 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | CG8885 32 |
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Worm (Caenorhabditis elegans) |
Secernentea | C01F1.2 32 |
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Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SCO1 33 |
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Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.1093 30 |
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SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
658290 | Likely Pathogenic: not provided | 50,526,364(-) | C/CA | FRAMESHIFT_VARIANT,FIVE_PRIME_UTR_VARIANT | |
666945 | Uncertain Significance: not specified | 50,525,857(-) | GGCGCGGCTCTGCGGG | FRAMESHIFT_VARIANT,INTRON_VARIANT | |
669173 | Likely Benign: not provided | 50,526,035(-) | C/T | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
673707 | Benign: not provided | 50,526,189(-) | C/T | INTRON_VARIANT | |
694442 | Likely Pathogenic: Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 50,526,404(-) | A/C | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT |
Disorder | Aliases | PubMed IDs |
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myopia 6 |
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cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 |
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fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency |
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autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect |
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rare isolated myopia |
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