| Tbio | Protein SCO2 homolog, mitochondrial |
Acts as a copper chaperone, transporting copper to the Cu(A) site on the cytochrome c oxidase subunit II (COX2).
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]
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]
Comments
| Disease | Target Count | P-value |
|---|---|---|
| juvenile dermatomyositis | 1187 | 1.1e-12 |
| lung adenocarcinoma | 2716 | 7.7e-09 |
| ovarian cancer | 8520 | 6.6e-08 |
| psoriasis | 6694 | 1.1e-07 |
| tuberculosis | 2010 | 1.6e-05 |
| malignant mesothelioma | 3232 | 1.9e-05 |
| lung cancer | 4740 | 4.3e-04 |
| Atopic dermatitis | 952 | 6.7e-04 |
| interstitial cystitis | 2312 | 1.9e-03 |
| cutaneous lupus erythematosus | 1057 | 2.9e-03 |
| intraductal papillary-mucinous neoplasm (IPMN) | 3291 | 8.8e-03 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| cytochrome-c oxidase deficiency disease | 19 | 0.0 | 5.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Cardiomyopathy | 116 | 0.0 | 4.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Heart disease | 306 | 4.151 | 2.1 |
| Lactic acidosis | 51 | 3.228 | 1.6 |
| Disease | log2 FC | p |
|---|---|---|
| Atopic dermatitis | 2.000 | 6.7e-04 |
| cutaneous lupus erythematosus | 2.100 | 2.9e-03 |
| interstitial cystitis | 1.300 | 1.9e-03 |
| intraductal papillary-mucinous neoplasm ... | 1.200 | 8.8e-03 |
| juvenile dermatomyositis | 1.878 | 1.1e-12 |
| lung adenocarcinoma | 1.200 | 7.7e-09 |
| lung cancer | -1.500 | 4.3e-04 |
| malignant mesothelioma | -1.100 | 1.9e-05 |
| ovarian cancer | 3.300 | 6.6e-08 |
| psoriasis | 1.500 | 1.1e-07 |
| tuberculosis | 2.400 | 1.6e-05 |
MLLLTRSPTAWHRLSQLKPRVLPGTLGGQALHLRSWLLSRQGPAETGGQGQPQGPGLRTRLLITGLFGAG 1 - 70 LGGAWLALRAEKERLQQQKRTEALRQAAVGQGDFHLLDHRGRARCKADFRGQWVLMYFGFTHCPDICPDE 71 - 140 LEKLVQVVRQLEAEPGLPPVQPVFITVDPERDDVEAMARYVQDFHPRLLGLTGSTKQVAQASHSYRVYYN 141 - 210 AGPKDEDQDYIVDHSIAIYLLNPDGLFTDYYGRSRSAEQISDSVRRHMAAFRSVLS 211 - 266 //
