SCO2 - synthesis of cytochrome C oxidase 2 Gene
Also Known as TP; MYP6; TYMP; ECGF1; SCO1L; MC4DN2; CEMCOX1; PD-ECGF; TdRPase; Gliostatin
Species: Homo sapiens
About SCO2
This gene has 5 transcripts (splice variants), 167 orthologues, 1 paralogue and is associated with 8 phenotypes. Ubiquitous expression in spleen (RPKM 14.8), bone marrow (RPKM 14.4) and 25 other tissues.
Summary
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 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001169109.2 | NP_001162580.1 | protein SCO2 homolog, mitochondrial precursor |
| NM_001169110.1 | NP_001162581.1 | protein SCO2 homolog, mitochondrial precursor |
| NM_001169111.2 | NP_001162582.1 | protein SCO2 homolog, mitochondrial precursor |
| NM_005138.3 | NP_005129.2 | protein SCO2 homolog, mitochondrial precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
24403053 | GOA |
| enables protein-disulfide reductase activity |
IDA
IDA: Inferred from direct assay
|
19336478 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in eye development |
IMP
IMP: Inferred from mutant phenotype
|
23643385 | GOA |
| involved in mitochondrial cytochrome c oxidase assembly |
IMP
IMP: Inferred from mutant phenotype
|
15229189 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in mitochondrial inner membrane |
IDA
IDA: Inferred from direct assay
|
15229189 | GOA |
| located in myofibril |
IDA
IDA: Inferred from direct assay
|
20864674 | GOA |
SCO2 Protein Structure
SCO1-SenC: SCO1/SenC (85 - 241)
- 0
- 100
- 200
- 266 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
protein SCO2 homolog, mitochondrial |
|
SCO2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
SCO2 | O43819 | CIDEB | Homo sapiens | Q9UHD4 | 32296183 | |
|
Intra
|
SCO2 | O43819 | CIDEB | Homo sapiens | Q9UHD4 | 32296183 | |
|
Intra
|
SCO2 | O43819 | CIDEB | Homo sapiens | Q9UHD4 | 32296183 |
SCO2 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P87066 | SCO2 Antibody (YA6759) | WB, IHC-P, ICC/IF, IP | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Myopia 6 |
|
|
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
|
| Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency |
|
|
| Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
|
| Mitochondrial Dna Depletion Syndrome 1 |
|
|
| Mitochondrial Dna Depletion Syndrome 4b |
|
|
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
|
| Rare Isolated Myopia |
|
|
| Myopia |
|
|
| Leigh Syndrome With Cardiomyopathy |
|
|
| Spinal Muscular Atrophy, Type I |
|
|
| Refractive Error |
|
|
| Lactic Acidosis |
|
|
| Leigh Syndrome |
|
|
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
|
| Spinal Muscular Atrophy |
|
|
| Dilated Cardiomyopathy |
|
|
| Hypertrophic Cardiomyopathy |
|
|
| Mitochondrial Disease |
|
|
| Cardiomyopathy, Infantile Hypertrophic |
|
|
| Degenerative Myopia |
|
|
| Mitochondrial Dna Depletion Syndrome 2 |
|
|
| Complement Component 2 Deficiency |
|
|
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
|
| Anisometropia |
|
|
| Kearns-Sayre Syndrome |
|
|
| Combined Oxidative Phosphorylation Deficiency 6 |
|
|
| Mitochondrial Dna Depletion Syndrome 3 |
|
|
| Mitochondrial Metabolism Disease |
|
|
| Menkes Disease |
|
|
| Juvenile Glaucoma |
|
|
| Mitochondrial Dna Depletion Syndrome |
|
|
| 3-Methylglutaconic Aciduria, Type Iii |
|
|
| Stickler Syndrome |
|
|
| Mitochondrial Dna Depletion Syndrome 4a |
|
|
| Hypoplastic Left Heart Syndrome |
|
|
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
|
| Mitochondrial Myopathy |
|
|
| Leber Hereditary Optic Neuropathy, Modifier Of |
|
|
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
|
| Left Ventricular Noncompaction |
|
|
| Retinitis Pigmentosa |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | SCO2 | VGNC | VGNC:106608 |
| Bos taurus | SCO2 | VGNC | VGNC:106917 |
| Felis catus | SCO2 | VGNC | VGNC:107068 |
| Mus musculus | SCO2 | MGD | MGI:3818630 |
| Others | SCO2 | NCBI |