| 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 | 1189 | 1.07524143087149E-12 |
| lung adenocarcinoma | 2714 | 7.71488493205368E-9 |
| ovarian cancer | 8492 | 6.63260195570324E-8 |
| psoriasis | 6685 | 6.37200656861551E-6 |
| tuberculosis | 1563 | 1.63937292907741E-5 |
| malignant mesothelioma | 3163 | 1.85315136379523E-5 |
| lung cancer | 4473 | 4.3049404159075E-4 |
| Atopic dermatitis | 944 | 6.67357745021703E-4 |
| interstitial cystitis | 2299 | 0.00192904672729332 |
| cutaneous lupus erythematosus | 1056 | 0.00291390578052702 |
| intraductal papillary-mucinous neoplasm (IPMN) | 3289 | 0.00882243566426425 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| cytochrome-c oxidase deficiency disease | 19 | 0.0 | 5.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Leigh disease | 81 | 5.347 | 2.7 |
| Cardiomyopathy | 110 | 0.0 | 4.0 |
| Disease | Target Count |
|---|---|
| Leigh syndrome | 34 |
| Myopia 6 | 1 |
| Disease | log2 FC | p |
|---|---|---|
| malignant mesothelioma | -1.100 | 0.000 |
| psoriasis | 3.300 | 0.000 |
| cutaneous lupus erythematosus | 2.100 | 0.003 |
| juvenile dermatomyositis | 1.878 | 0.000 |
| Atopic dermatitis | 2.000 | 0.001 |
| tuberculosis | 2.400 | 0.000 |
| intraductal papillary-mucinous neoplasm ... | 1.200 | 0.009 |
| lung cancer | -1.500 | 0.000 |
| interstitial cystitis | 1.300 | 0.002 |
| lung adenocarcinoma | 1.200 | 0.000 |
| ovarian cancer | 3.300 | 0.000 |
| Species | Source |
|---|---|
| Chimp | OMA EggNOG |
| Mouse | OMA EggNOG Inparanoid |
| Dog | OMA EggNOG |
| Horse | OMA EggNOG |
| Cow | OMA EggNOG Inparanoid |
| Xenopus | OMA EggNOG |
| Zebrafish | OMA Inparanoid |
| S.cerevisiae | EggNOG Inparanoid |
| PMID | Text |
|---|---|
| 26700591 | Geranylgeranoic acid increased the SCO2 gene expression, which might enhance aerobic respiration. |
| 26351686 | Sco1 is a metallochaperone that selectively transfers Cu(I) ions based on loop recognition, whereas Sco2 is a copper-dependent thiol reductase of the cysteine ligands in the oxidase. |
| 26309161 | oncoprotein HBXIP enhances glucose metabolism reprogramming through suppressing SCO2 and PDHA1 in breast cancer |
| 25959673 | Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies. |
| 25720770 | Letter/Case Report: SCO2 mutations resulting in Leigh disease revealed at autopsy. |
| 25525168 | mutation in LRPAP1 is associated with high myopia. Further studies are expected to evaluate the pathogenicity of the variants in CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2. |
| 24403053 | COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase. |
| 23786650 | alpha-particle-induced bystander effect is regulated by p53 and its downstream SCO2 in the irradiated hepatoma cells |
| 23643385 | Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. |
| 23612020 | oroxylin A could increase protein and mRNA expression of TP53-induced glycolysis and apoptosis regulator (TIGAR) and synthesis of cytochrome c oxidase 2 (SCO2), which are the key metabolic modulators regulated by p53. |
| More... |
MLLLTRSPTAWHRLSQLKPRVLPGTLGGQALHLRSWLLSRQGPAETGGQGQPQGPGLRTRLLITGLFGAG 1 - 70 LGGAWLALRAEKERLQQQKRTEALRQAAVGQGDFHLLDHRGRARCKADFRGQWVLMYFGFTHCPDICPDE 71 - 140 LEKLVQVVRQLEAEPGLPPVQPVFITVDPERDDVEAMARYVQDFHPRLLGLTGSTKQVAQASHSYRVYYN 141 - 210 AGPKDEDQDYIVDHSIAIYLLNPDGLFTDYYGRSRSAEQISDSVRRHMAAFRSVLS 211 - 266 //
| PMID | Year | Title |
|---|---|---|
| 26741492 | 2016 | A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. |
| 26700591 | 2015 | Upregulation of energy metabolism-related, p53-target TIGAR and SCO2 in HuH-7 cells with p53 mutation by geranylgeranoic acid treatment. |
| 26351686 | 2015 | Loop recognition and copper-mediated disulfide reduction underpin metal site assembly of CuA in human cytochrome oxidase. |
| 26309161 | 2015 | The oncoprotein HBXIP promotes glucose metabolism reprogramming via downregulating SCO2 and PDHA1 in breast cancer. |
| 25959673 | 2015 | Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies. |
| 25944712 | 2015 | N-terminome analysis of the human mitochondrial proteome. |
| 25720770 | 2015 | Leigh disease due to SCO2 mutations revealed at extended autopsy. |
| 25525168 | 2014 | Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing. |
| 24403053 | 2014 | Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase. |
| 23786650 | 2013 | Alpha particle-induced bystander effect is mediated by ROS via a p53-dependent SCO2 pathway in hepatoma cells. |
| More... |
