COX4I2

Protein identityUniProt · HPA

UniProt accession

Q96KJ9

Gene

COX4I2

Ensembl

ENSG00000131055

Chromosome

20

Canonical length

171 aa

Protein class

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

OverviewNCBI Gene

Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes isoform 2 of subunit IV. Isoform 1 of subunit IV is encoded by a different gene, however, the two genes show a similar structural organization. Subunit IV is the largest nuclear encoded subunit which plays a pivotal role in COX regulation. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

171 residues, UniProt reviewed canonical sequence.

>Q96KJ9|COX4I2
     1  MLPRAAWSLV LRKGGGGRRG MHSSEGTTRG GGKMSPYTNC YAQRYYPMPE EPFCTELNAE
    61  EQALKEKEKG SWTQLTHAEK VALYRLQFNE TFAEMNRRSN EWKTVMGCVF FFIGFAALVI
   121  WWQRVYVFPP KPITLTDERK AQQLQRMLDM KVNPVQGLAS RWDYEKKQWK K

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COX4I2 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)

0.51

Highest tissue expression

108 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COX4I2.

Disease | AllUniProt

Conditions COX4I2 is implicated in, by any mechanism.

• Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH) MIM:612714

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)

1.34

gnomAD pLI

0

gnomAD missense Z

-0.07

DepMap mean gene effect

-0.07

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

• cellular respiration
• generation of precursor metabolites and energy
• mitochondrial electron transport, cytochrome c to oxygen

Cellular components

• mitochondrial inner membrane
• mitochondrial intermembrane space
• mitochondrion
• respiratory chain complex IV

Protein domainsUniProt · Pfam · InterPro

• Cytochrome c oxidase subunit IV family
• Cytochrome c oxidase subunit IV
• Cytochrome c oxidase subunit IV superfamily
• Cytochrome c oxidase subunit IV

KeywordsUniProt

• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Transit peptide
• Transmembrane
• Transmembrane helix