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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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COX16
cytochrome c oxidase assembly factor COX16
Chromosome 14 Β· 14q24.2
NCBI Gene: 51241Ensembl: ENSG00000133983.17HGNC: HGNC:20213UniProt: Q9P0S2
26PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrial inner membraneprotein bindingmitochondrial respiratory chain complex IV assemblymitochondrionneurodegenerative diseasemitochondrial complex IV deficiency, nuclear type 22developmental disorder of mental healthIsolated cytochrome C oxidase deficiency
✦AI Summary

COX16 is a mitochondrial inner membrane protein essential for assembling cytochrome c oxidase (complex IV), the terminal enzyme of the respiratory chain 12. As a conserved assembly factor, COX16 specifically interacts with newly synthesized COX2 subunit and copper-coordinating metallochaperones (SCO1, SCO2, COA6) to promote copper insertion into COX2's active site 2. COX16 facilitates the critical merger of independent COX1 and COX2 assembly modules into the functional MITRAC intermediate 2. The protein is localized to the intermembrane space with its C-terminus facing outward 3. COX16 deficiency causes severe mitochondrial disease. Homozygous loss-of-function mutations result in complete complex IV dysfunction, manifesting as neonatal lactic acidosis, encephalopathy, cardiomyopathy, and hepatic dysfunction 4. Notably, COX16 knockout cells retain partial COX activity, suggesting functional redundancy in some contexts 1. Beyond its canonical assembly role, COX16 expression is upregulated in oral squamous cell carcinoma and breast cancer, where it promotes mitochondrial respiration and supports tumor progression 56. COX16 is also identified as part of cancer-associated membrane signatures predicting prognosis in lung adenocarcinoma 7, indicating disease relevance beyond mitochondrial dysfunction.

Sources cited
1
COX16 is required for COX assembly and copper delivery to COX2; COX16 knockout impairs assembly and co-immunoprecipitates with COX2
PMID: 29355485
2
COX16 interacts with newly synthesized COX2 and metallochaperones SCO1, SCO2, COA6; participates in merging COX1 and COX2 assembly lines
PMID: 29381136
3
COX16 homozygous nonsense variant causes complete loss of complex IV, neonatal lactic acidosis, cardiomyopathy, encephalopathy, and liver dysfunction
PMID: 33169484
4
COX16 encodes mitochondrial inner membrane protein with C-terminus in intermembrane space; is a novel COX assembly factor
PMID: 12446688
5
DAZAP1 enhances COX16 expression, promoting OSCC invasion, mitochondrial respiration, and metastasis; COX16 expression correlates with poor prognosis
PMID: 39120588
6
SYNJ2BP-COX16 fusion protein SUMOylation promotes breast cancer progression through increased ATP production and COX activity
PMID: 35998797
7
COX16 is identified as cancer-specific membrane protein with spatial localization in LUAD tumors and role in prognostic signature
PMID: 40664871
Disease Associationsβ“˜21
neurodegenerative diseaseOpen Targets
0.54Moderate
mitochondrial complex IV deficiency, nuclear type 22Open Targets
0.54Moderate
developmental disorder of mental healthOpen Targets
0.37Weak
Isolated cytochrome C oxidase deficiencyOpen Targets
0.37Weak
Abruptio PlacentaeOpen Targets
0.28Weak
EncephalopathyOpen Targets
0.25Weak
hypertrophic cardiomyopathyOpen Targets
0.25Weak
mitochondrial diseaseOpen Targets
0.19Weak
prostate carcinomaOpen Targets
0.14Weak
HypercholesterolemiaOpen Targets
0.13Weak
response to statinOpen Targets
0.08Suggestive
head and neck squamous cell carcinomaOpen Targets
0.03Suggestive
cervical carcinomaOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.01Suggestive
lactic acidosisOpen Targets
0.01Suggestive
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.01Suggestive
cardiomyopathyOpen Targets
0.01Suggestive
Decreased liver functionOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
Mitochondrial complex IV deficiency, nuclear type 22UniProt
Pathogenic Variants1
NM_016468.7(COX16):c.244C>T (p.Arg82Ter)Pathogenic
Mitochondrial complex IV deficiency, nuclear type 22
β˜†β˜†β˜†β˜†2022β†’ Residue 82
View on ClinVar β†—
Related Genes
PET117Shared pathway100%PET100Shared pathway100%COA5Shared pathway100%SMIM20Shared pathway100%COX20Shared pathway100%TMEM223Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Liver
89%
Lung
65%
Ovary
61%
Heart
31%
Bone Marrow
13%
Gene Interaction Network
Click a node to explore
COX16PET117PET100COA5SMIM20COX20TMEM223
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9P0S2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.37LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.85 [0.54–1.37]
RankingsWhere COX16 stands among ~20K protein-coding genes
  • #12,762of 20,598
    Most Researched26
  • #5,296of 5,498
    Most Pathogenic Variants1
  • #14,315of 17,882
    Most Constrained (LOEUF)1.37
Genes detectedCOX16
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
DAZAP1 Phase Separation Regulates Mitochondrial Metabolism to Facilitate Invasion and Metastasis of Oral Squamous Cell Carcinoma.
PMID: 39120588
Cancer Res Β· 2024
1.00
2
COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2.
PMID: 29355485
Biochim Biophys Acta Bioenerg Β· 2018
0.90
3
Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency.
PMID: 15596615
Arch Neurol Β· 2004
0.80
4
SUMOylation of SYNJ2BP-COX16 promotes breast cancer progression through DRP1-mediated mitochondrial fission.
PMID: 35998797
Cancer Lett Β· 2022
0.70
5
COX16 promotes COX2 metallation and assembly during respiratory complex IV biogenesis.
PMID: 29381136
Elife Β· 2018
0.60