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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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COX4I2
cytochrome c oxidase subunit 4I2
Chromosome 20 · 20q11.21
NCBI Gene: 84701Ensembl: ENSG00000131055.6HGNC: HGNC:16232UniProt: H6SG14
33PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionmitochondrial electron transport, cytochrome c to oxygenrespiratory chain complex IVmitochondrial intermembrane spacePancreatic insufficiency - anemia - hyperostosispancreatic insufficiency-anemia-hyperostosis syndromehypertensionAbnormality of the skeletal system
✦AI Summary

COX4I2 (cytochrome c oxidase subunit 4I2) encodes a structural subunit of cytochrome c oxidase (complex IV), the terminal enzyme of the mitochondrial electron transport chain that catalyzes oxygen reduction to water during oxidative phosphorylation 1. The protein functions in mitochondrial respiration and is subject to post-translational regulation, including deacetylation by SIRT3 to maintain mitochondrial homeostasis 2. COX4I2 expression is transcriptionally regulated by hypoxia-inducible factor 1α (HIF1A) under hypoxic conditions 3 and by EBF1 in cancer-associated fibroblasts 4. The gene exhibits tissue-specific expression patterns, with relatively high levels in pancreatic acinar cells 1. Mutations in COX4I2 cause a rare syndrome characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, associated with reduced COX4I2 expression and impaired hypoxic response 1. In cancer contexts, COX4I2 overexpression promotes tumor progression through enhanced angiogenesis 53 and epithelial-mesenchymal transition 5. The protein serves as a biomarker for highly vascular tumors and metabolism-type pheochromocytomas 6, while also contributing to immunosuppressive tumor microenvironments in colorectal cancer 4. Mendelian randomization studies suggest protective roles against osteoarthritis 7.

Sources cited
1
COX4I2 is a structural subunit of cytochrome c oxidase, causes rare syndrome when mutated, and has high expression in pancreatic acinar cells
PMID: 19268275
2
COX4I2 is deacetylated by SIRT3 to maintain mitochondrial homeostasis and prevent osteoarthritis progression
PMID: 36683245
3
COX4I2 expression is transcriptionally regulated by HIF1A under hypoxic conditions and promotes angiogenesis
PMID: 38422899
4
EBF1 transcriptionally regulates COX4I2 in cancer-associated fibroblasts, contributing to immunosuppressive tumor microenvironment
PMID: 39002521
5
COX4I2 overexpression promotes epithelial-mesenchymal transition and angiogenesis in colorectal cancer
PMID: 36064310
6
COX4I2 serves as a marker for metabolism-type pheochromocytomas
PMID: 38407266
7
COX4I2 acts as a protective factor against osteoarthritis based on Mendelian randomization analysis
PMID: 40068079
Disease Associationsⓘ21
Pancreatic insufficiency - anemia - hyperostosisOpen Targets
0.52Moderate
pancreatic insufficiency-anemia-hyperostosis syndromeOpen Targets
0.51Moderate
hypertensionOpen Targets
0.11Weak
Abnormality of the skeletal systemOpen Targets
0.10Suggestive
clonal hematopoiesisOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
medullary thyroid gland carcinomaOpen Targets
0.08Suggestive
thyroid cancerOpen Targets
0.07Suggestive
response to xenobiotic stimulusOpen Targets
0.07Suggestive
bronchiectasisOpen Targets
0.07Suggestive
osteosarcomaOpen Targets
0.06Suggestive
bronchiectasis with or without elevated sweat chloride 3Open Targets
0.06Suggestive
primary ciliary dyskinesiaOpen Targets
0.05Suggestive
myeloproliferative disorderOpen Targets
0.05Suggestive
Young syndromeOpen Targets
0.05Suggestive
pheochromocytomaOpen Targets
0.05Suggestive
gliomaOpen Targets
0.05Suggestive
Chronic mucocutaneous candidosisOpen Targets
0.04Suggestive
immunodeficiency 51Open Targets
0.04Suggestive
metabolic syndromeOpen Targets
0.04Suggestive
Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosisUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NDUFS2Protein interaction100%NDUFA9Protein interaction100%NDUFA10Protein interaction100%NDUFB9Protein interaction100%UQCRHLProtein interaction99%NDUFB10Protein interaction99%
Tissue Expression6 tissues
Heart
100%
Lung
71%
Ovary
7%
Brain
5%
Liver
2%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
COX4I2NDUFS2NDUFA9NDUFA10NDUFB9UQCRHLNDUFB10
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q96KJ9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.08LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.72 [0.49–1.08]
RankingsWhere COX4I2 stands among ~20K protein-coding genes
  • #11,310of 20,598
    Most Researched33
  • #10,949of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedCOX4I2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Reprogramming of Mitochondrial Respiratory Chain Complex by Targeting SIRT3-COX4I2 Axis Attenuates Osteoarthritis Progression.
PMID: 36683245
Adv Sci (Weinh) · 2023
1.00
2
Identification of COX4I2 as a hypoxia-associated gene acting through FGF1 to promote EMT and angiogenesis in CRC.
PMID: 36064310
Cell Mol Biol Lett · 2022
0.90
3
Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene.
PMID: 19268275
Am J Hum Genet · 2009
0.80
4
HIF1A transcriptional regulation of COX4I2 impacts angiogenesis in pheochromocytoma.
PMID: 38422899
Biochem Biophys Res Commun · 2024
0.70
5
Molecular classification and tumor microenvironment characteristics in pheochromocytomas.
PMID: 38407266
Elife · 2024
0.60