COX20

Protein identityUniProt · HPA

UniProt accession

Q5RI15

Gene

COX20

Ensembl

ENSG00000203667

Chromosome

1

Canonical length

118 aa

Protein class

Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters

Subcellular location

Mitochondria

OverviewNCBI Gene

This gene encodes a protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mitochondrial membrane. Mutations in this gene can cause mitochondrial complex IV deficiency, which results in ataxia and muscle hypotonia. There are multiple pseudogenes for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

Canonical amino-acid sequenceUniProt

118 residues, UniProt reviewed canonical sequence.

>Q5RI15|COX20
     1  MAAPPEPGEP EERKSLKLLG FLDVENTPCA RHSILYGSLG SVVAGFGHFL FTSRIRRSCD
    61  VGVGGFILVT LGCWFHCRYN YAKQRIQERI AREEIKKKIL YEGTHLDPER KHNGSSSN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COX20 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

2

Mean surface accessibility (rSASA)

0.52

Highest tissue expression

54 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COX20.

Disease | AllUniProt

Conditions COX20 is implicated in, by any mechanism.

• Mitochondrial complex IV deficiency, nuclear type 11 (MC4DN11) MIM:619054

Disease | GeneticClinVar

15 pathogenic / likely-pathogenic of 166 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial complex IV deficiency, nuclear type 11
• COX20-related disorder
• Inborn genetic diseases
• Mitochondrial disease
• Mitochondrial complex IV deficiency, nuclear type 1

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)

1.48

gnomAD pLI

0.02

gnomAD missense Z

0.29

DepMap mean gene effect

-0.48

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• mitochondrial respiratory chain complex IV assembly

Cellular components

• mitochondrial inner membrane
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Cox20
• Cytochrome c oxidase assembly protein COX20

KeywordsUniProt

• Acetylation
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Primary mitochondrial disease
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of COX20 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• COA6
• COX18
• SCO1
• SCO2
• TMEM177
• MT-CO2