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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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COX7A2L
cytochrome c oxidase subunit 7A2 like
Chromosome 2 · 2p21
NCBI Gene: 9167Ensembl: ENSG00000115944.16HGNC: HGNC:2289UniProt: O14548
42PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionprotein-macromolecule adaptor activitymitochondrial respirasome assemblymitochondrial inner membranesmoking initiationdrug allergyidiopathic pulmonary fibrosisbreast cancer
✦AI Summary

COX7A2L is a mitochondrial assembly factor that mediates the formation of respiratory supercomplexes, particularly the CIII₂IV₂ supercomplex and larger structures like the CS-respirasome (MCI₁III₂IV₂) 12. It functions as a molecular adapter associating with both respiratory complexes III and IV to promote their functional organization 3. COX7A2L plays a critical regulatory role in metabolic adaptation: supercomplexes assembled by COX7A2L maintain oxidative phosphorylation under low-oxygen conditions and facilitate metabolic rewiring toward glycolysis 3. The protein is essential for preventing metabolic exhaustion through coordinated MRC organization 3. Under nutrient and ER stress, PERK-eIF2α signaling upregulates COX7A2L to enhance supercomplex assembly and ATP production 4. Genetically, COX7A2L variants in the 3' UTR affect muscle expression levels, with increased expression correlating with higher cardiorespiratory fitness, greater lean mass, and reduced body fat in humans 5. In metabolic disease contexts, COX7A2L knockdown promotes glutaminolysis and cell proliferation while enhancing antioxidative defense 6. Clinical evidence suggests COX7A2L may modulate apoptosis and proliferation in acute kidney injury through Wnt/β-catenin pathway regulation 7. However, recent cardiomyocyte studies suggest COX7A2L's effects on cell viability may be cell-type specific 8.

Sources cited
1
COX7A2L mediates formation of CIII₂IV₂ supercomplex and CS-respirasome (MCI₁III₂IV₂)
PMID: 27545886
2
COX7A2L is essential for mammalian SC III₂+IV assembly and supercomplex organization remodeling
PMID: 30428348
3
COX7A2L maintains OXPHOS upon metabolic rewiring toward glycolysis under low oxygen conditions
PMID: 36198313
4
PERK-eIF2α axis increases COX7A2L expression to promote supercomplexes and ATP production during ER and nutrient stress
PMID: 31023583
5
COX7A2L genetic variants affect skeletal muscle expression; increased COX7A2L associates with higher cardiorespiratory fitness and lean mass
PMID: 36253618
6
COX7A2L depletion reprograms metabolism toward anabolism, increases glutaminolysis, and enhances cell proliferation and antioxidative defense
PMID: 37351168
7
COX7A2L is regulated by TCF4 and modulates apoptosis and Wnt/β-catenin signaling in acute kidney injury
PMID: 39499704
8
Altering COX7A2L expression in cardiomyocytes did not significantly affect cell viability or mitochondrial function
PMID: 40560843
Disease Associationsⓘ20
smoking initiationOpen Targets
0.27Weak
drug allergyOpen Targets
0.12Weak
idiopathic pulmonary fibrosisOpen Targets
0.10Weak
breast cancerOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
Chronic Obstructive AsthmaOpen Targets
0.08Suggestive
glioblastoma multiformeOpen Targets
0.08Suggestive
gastroesophageal reflux diseaseOpen Targets
0.07Suggestive
major depressive disorderOpen Targets
0.06Suggestive
Romano-Ward syndromeOpen Targets
0.05Suggestive
FRAXF syndromeOpen Targets
0.05Suggestive
Abnormality of the skeletal systemOpen Targets
0.05Suggestive
cancerOpen Targets
0.04Suggestive
catecholaminergic polymorphic ventricular tachycardiaOpen Targets
0.04Suggestive
Familial short QT syndromeOpen Targets
0.04Suggestive
Familial progressive cardiac conduction defectOpen Targets
0.04Suggestive
mosaic variegated aneuploidy syndrome 4Open Targets
0.04Suggestive
familial atrial fibrillationOpen Targets
0.04Suggestive
Brugada syndromeOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UQCR10Protein interaction100%UQCR11Protein interaction100%UQCRHProtein interaction100%UQCRFS1Protein interaction100%COX5BProtein interaction100%UQCRC2Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Heart
93%
Bone Marrow
93%
Ovary
65%
Liver
58%
Lung
37%
Gene Interaction Network
Click a node to explore
COX7A2LUQCR10UQCR11UQCRHUQCRFS1COX5BUQCRC2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O14548
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.76LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.23 [0.84–1.76]
RankingsWhere COX7A2L stands among ~20K protein-coding genes
  • #9,855of 20,598
    Most Researched42
  • #16,404of 17,882
    Most Constrained (LOEUF)1.76
Genes detectedCOX7A2L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Mitochondrial supercomplex assembly regulates metabolic features and glutamine dependency in mammalian cells.
PMID: 37351168
Theranostics · 2023
1.00
2
ER and Nutrient Stress Promote Assembly of Respiratory Chain Supercomplexes through the PERK-eIF2α Axis.
PMID: 31023583
Mol Cell · 2019
0.90
3
COX7A2L genetic variants determine cardiorespiratory fitness in mice and human.
PMID: 36253618
Nat Metab · 2022
0.80
4
Two independent respiratory chains adapt OXPHOS performance to glycolytic switch.
PMID: 36198313
Cell Metab · 2022
0.70
5
Human COX7A2L Regulates Complex III Biogenesis and Promotes Supercomplex Organization Remodeling without Affecting Mitochondrial Bioenergetics.
PMID: 30428348
Cell Rep · 2018
0.60