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0 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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COXFA4L2
cytochrome c oxidase hypoxia associated subunit FA4L2
Chromosome 12 Β· 12q13.3
NCBI Gene: 56901Ensembl: ENSG00000185633.12HGNC: HGNC:29836UniProt: Q9NRX3
29PubMed Papers
20Diseases
3Drugs
0Pathogenic Variants
CLINICAL
FDA Approved Target
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
enzyme inhibitor activityresponse to hypoxiacellular response to hypoxianegative regulation of mitochondrial electron transport, NADH to ubiquinonetype 2 diabetes mellitusdiabetes mellituspolycystic ovary syndromemetabolic syndrome
✦AI Summary

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cytochrome c oxidase hypoxia associated subunit FA4L2

⚠Limited data available β€” This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
type 2 diabetes mellitusOpen Targets
0.61Moderate
diabetes mellitusOpen Targets
0.60Moderate
polycystic ovary syndromeOpen Targets
0.41Moderate
metabolic syndromeOpen Targets
0.41Moderate
gestational diabetesOpen Targets
0.41Moderate
Insulin resistanceOpen Targets
0.40Moderate
obesityOpen Targets
0.40Weak
prediabetes syndromeOpen Targets
0.40Weak
type 1 diabetes mellitusOpen Targets
0.39Weak
Disorder of lipid metabolismOpen Targets
0.38Weak
agingOpen Targets
0.37Weak
prostate cancerOpen Targets
0.36Weak
COVID-19Open Targets
0.36Weak
abnormal glucose toleranceOpen Targets
0.36Weak
metabolic diseaseOpen Targets
0.35Weak
breast cancerOpen Targets
0.34Weak
colorectal cancerOpen Targets
0.34Weak
Autosomal dominant polycystic kidney diseaseOpen Targets
0.34Weak
chronic kidney diseaseOpen Targets
0.32Weak
non-small cell lung carcinomaOpen Targets
0.32Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Drug Targets3
ME-344Phase I/II
Mitochondrial complex I (NADH dehydrogenase) inhibitor
breast cancer
METFORMINApproved
Mitochondrial complex I (NADH dehydrogenase) inhibitor
diabetes mellitus
METFORMIN HYDROCHLORIDEApproved
Mitochondrial complex I (NADH dehydrogenase) inhibitor
type 2 diabetes mellitus
Related Genes
NDUFB5Protein interaction100%NDUFA13Protein interaction100%NDUFA5Protein interaction100%NDUFB8Protein interaction100%NDUFA6Protein interaction100%NDUFA12Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Lung
45%
Brain
30%
Liver
15%
Ovary
12%
Bone Marrow
0%
Gene Interaction Network
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COXFA4L2NDUFB5NDUFA13NDUFA5NDUFB8NDUFA6NDUFA12
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q9NRX3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.82LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.25 [0.82–1.82]
RankingsWhere COXFA4L2 stands among ~20K protein-coding genes
  • #12,128of 20,598
    Most Researched29
  • #688of 1,025
    FDA-Approved Drug Targets2
  • #16,687of 17,882
    Most Constrained (LOEUF)1.82
Genes detectedCOXFA4L2
Sources retrieved0 papers
Response timeβ€”