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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SQLE
squalene epoxidase
Chromosome 8 · 8q24.13
NCBI Gene: 6713Ensembl: ENSG00000104549.13HGNC: HGNC:11279UniProt: Q14534
86PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of cell population proliferationprotein bindinglipid droplet formationendoplasmic reticulum membraneneurodegenerative diseaseAlzheimer diseasemultiple sclerosislysosomal storage disease
✦AI Summary

SQLE (squalene epoxidase) is a rate-limiting enzyme in cholesterol biosynthesis that catalyzes the oxidation of squalene to epoxysqualene 1. Located in the endoplasmic reticulum, SQLE plays crucial roles beyond basic sterol synthesis. In cancer, SQLE promotes tumor growth through multiple mechanisms: it maintains lipid raft stability and activates oncogenic Src/PI3K/Akt signaling pathways 2, while its inhibition leads to squalene accumulation-induced ER stress and apoptosis 2. SQLE creates immunosuppressive tumor microenvironments by generating cholesterol that impairs CD8+ T cell function and promotes myeloid-derived suppressor cells 3. In hepatocellular carcinoma, SQLE-driven cholesterol accumulation produces oxidized LDL that induces protumorigenic TREM2+ tumor-associated macrophages 4. The enzyme also contributes to metabolic reprogramming in brain tumors, where NR4A2-mediated SQLE activation dysregulates cholesterol homeostasis in microglia 5. Clinically, SQLE represents a promising therapeutic target, as its inhibition with drugs like terbinafine can restore anti-PD-1 immunotherapy efficacy 3 and suppress pancreatic cancer growth 2. Additionally, SQLE mutations in dermatophytes confer resistance to antifungal therapy 6.

Sources cited
1
SQLE is a rate-limiting enzyme in cholesterol biosynthesis
PMID: 32698040
2
SQLE maintains lipid raft stability, activates Src/PI3K/Akt signaling, and its inhibition causes ER stress and apoptosis
PMID: 37542052
3
SQLE creates immunosuppressive environments by impairing CD8+ T cells and promoting MDSCs, and its inhibition restores anti-PD-1 efficacy
PMID: 38744443
4
SQLE-driven cholesterol produces oxidized LDL that induces protumorigenic TREM2+ macrophages
PMID: 40695827
5
NR4A2-mediated SQLE activation dysregulates cholesterol homeostasis in microglia
PMID: 36649564
6
SQLE mutations in dermatophytes confer antifungal resistance
PMID: 38623728
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.52Moderate
Alzheimer diseaseOpen Targets
0.44Moderate
lysosomal storage diseaseOpen Targets
0.43Moderate
multiple sclerosisOpen Targets
0.43Moderate
Parkinson diseaseOpen Targets
0.43Moderate
ovarian carcinomaOpen Targets
0.16Weak
cardiomyopathyOpen Targets
0.09Suggestive
dilated cardiomyopathyOpen Targets
0.09Suggestive
atrial fibrillationOpen Targets
0.09Suggestive
benign neoplasm of eyeOpen Targets
0.09Suggestive
heart failureOpen Targets
0.09Suggestive
hypertrophic cardiomyopathyOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
ovarian cancerOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
head and neck squamous cell carcinomaOpen Targets
0.06Suggestive
colorectal carcinomaOpen Targets
0.05Suggestive
cancerOpen Targets
0.04Suggestive
exostosisOpen Targets
0.04Suggestive
osteosarcomaOpen Targets
0.04Suggestive
Pathogenic Variants1
NM_003129.4(SQLE):c.1278del (p.Asp427fs)Pathogenic
Hypercholesterolemia, familial, 1
☆☆☆☆2022→ Residue 427
View on ClinVar ↗
Related Genes
ACAT2Protein interaction100%CYP51A1Protein interaction100%HMGCS2Protein interaction100%HSD3B1Protein interaction100%HSD3B2Protein interaction100%INSIG1Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
85%
Liver
76%
Lung
49%
Ovary
25%
Heart
18%
Gene Interaction Network
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SQLEACAT2CYP51A1HMGCS2HSD3B1HSD3B2INSIG1
PROTEIN STRUCTURE
Preparing viewer…
PDB6C6N · 2.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.63LoF Tolerant
pLIⓘ
0.08Tolerant
Observed/Expected LoF0.44 [0.31–0.63]
RankingsWhere SQLE stands among ~20K protein-coding genes
  • #5,576of 20,598
    Most Researched86
  • #4,938of 5,498
    Most Pathogenic Variants1
  • #4,437of 17,882
    Most Constrained (LOEUF)0.63 · top quartile
Genes detectedSQLE
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Single-Cell RNA Sequencing Maps Endothelial Metabolic Plasticity in Pathological Angiogenesis.
PMID: 32268117
Cell Metab · 2020
1.00
2
An update on antifungal resistance in dermatophytosis.
PMID: 38623728
Expert Opin Pharmacother · 2024
0.90
3
Cholesterol metabolism: New functions and therapeutic approaches in cancer.
PMID: 32698040
Biochim Biophys Acta Rev Cancer · 2020
0.80
4
Targeting squalene epoxidase restores anti-PD-1 efficacy in metabolic dysfunction-associated steatohepatitis-induced hepatocellular carcinoma.
PMID: 38744443
Gut · 2024
0.70
5
Targeting Microglial Metabolic Rewiring Synergizes with Immune-Checkpoint Blockade Therapy for Glioblastoma.
PMID: 36649564
Cancer Discov · 2023
0.60