SCO2

Protein identityUniProt · HPA

UniProt accession

O43819

Gene

SCO2

Ensembl

ENSG00000284194

Chromosome

22

Canonical length

266 aa

Protein class

Disease related genes, Human disease related genes, Predicted membrane proteins

Subcellular location

Mitochondria

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

266 residues, UniProt reviewed canonical sequence.

>O43819|SCO2
     1  MLLLTRSPTA WHRLSQLKPR VLPGTLGGQA LHLRSWLLSR QGPAETGGQG QPQGPGLRTR
    61  LLITGLFGAG LGGAWLALRA EKERLQQQKR TEALRQAAVG QGDFHLLDHR GRARCKADFR
   121  GQWVLMYFGF THCPDICPDE LEKLVQVVRQ LEAEPGLPPV QPVFITVDPE RDDVEAMARY
   181  VQDFHPRLLG LTGSTKQVAQ ASHSYRVYYN AGPKDEDQDY IVDHSIAIYL LNPDGLFTDY
   241  YGRSRSAEQI SDSVRRHMAA FRSVLS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SCO2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.4

Highest tissue expression

45 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SCO2.

Disease | AllUniProt

Conditions SCO2 is implicated in, by any mechanism.

• Mitochondrial complex IV deficiency, nuclear type 2 (MC4DN2) MIM:604377
• Myopia 6 (MYP6) MIM:608908

Disease | GeneticClinVar

49 pathogenic / likely-pathogenic of 420 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
• Myopia 6
• SCO2-related disorder
• Severe global developmental delay
• Seizure

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.76

gnomAD pLI

0

gnomAD missense Z

-1.61

DepMap mean gene effect

-0.12

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• eye development
• in utero embryonic development
• intracellular copper ion homeostasis
• mitochondrial respiratory chain complex IV assembly
• muscle system process
• respiratory electron transport chain
• response to activity

Molecular functions

• copper chaperone activity
• copper ion binding
• protein-disulfide reductase activity

Cellular components

• mitochondrial inner membrane
• mitochondrion
• myofibril

Protein domainsUniProt · Pfam · InterPro

• Copper chaperone SCO1/SenC
• Thioredoxin domain
• Synthesis of cytochrome c oxidase, Sco1/Sco2
• Thioredoxin-like superfamily
• SCO1/SenC

KeywordsUniProt

• Cardiomyopathy
• Chaperone
• Copper
• Cytochrome c-type biogenesis
• Disulfide bond
• Leigh syndrome
• Membrane
• Metal-binding
• Mitochondrion
• Mitochondrion inner membrane
• Primary mitochondrial disease
• Transit peptide
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of SCO2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• COA6
• COX16
• COX20
• TMEM177