HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
9 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
OSBPL8
oxysterol binding protein like 8
Chromosome 12 · 12q21.2
NCBI Gene: 114882Ensembl: ENSG00000091039.18HGNC: HGNC:16396UniProt: Q9BZF1
132PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
endoplasmic reticulum-plasma membrane contact siteprotein bindingphosphatidylserine bindingcholesterol bindingcomplex regional pain syndromeAbnormality of the genital systemliver diseaseeye disease
✦AI Summary

OSBPL8 (oxysterol binding protein like 8) is a lipid transporter protein anchored to the endoplasmic reticulum that mediates non-vesicular lipid exchange at membrane contact sites. Its primary function involves phospholipid countertransport, specifically exchanging phosphatidylserine with phosphatidylinositol 4-phosphate (PI4P) between the endoplasmic reticulum and plasma membrane 1. OSBPL8 binds oxysterols, 25-hydroxycholesterol, and cholesterol in a ligand-sensing capacity 234, though its phospholipid transfer function appears mechanistically distinct from sterol sensing 5. Recent studies reveal OSBPL8's involvement in disease-relevant pathways. OSBPL8 operates within a GPX1-OSBPL8 axis that mediates endoplasmic reticulum-localized lipid peroxidation during ferroptosis, with knockdown promoting ROS-induced ferroptosis and tumor growth suppression 6. OSBPL8 is upregulated in liver cancer, where elevated expression correlates with poor overall survival 7. Genome-wide association studies identified OSBPL8 polymorphisms associated with high-density lipoprotein cholesterol levels 8, and gender-specific associations with kidney stone disease susceptibility linked to lipid metabolism traits 9. These findings position OSBPL8 as a critical regulator of lipid homeostasis with implications for metabolic and malignant diseases.

Sources cited
1
OSBPL8 exchanges phosphatidylserine with PI4P in a mutually exclusive binding manner
PMID: 26206935
2
OSBPL8 binds oxysterol and cholesterol
PMID: 17428193
3
OSBPL8 binds oxysterol and cholesterol
PMID: 17991739
4
OSBPL8 binds cholesterol
PMID: 21698267
5
ORP8 is a phospholipid transfer protein that senses and exchanges phosphatidylserine for phosphoinositides at membrane contact sites
PMID: 32570981
6
GPX1-OSBPL8 axis mediates ROS-induced ferroptosis at the endoplasmic reticulum; OSBPL8 knockdown suppresses tumor growth
PMID: 41720096
7
OSBPL8 is highly expressed in liver cancer and elevated expression correlates with poor overall and disease-specific survival
PMID: 36918840
8
OSBPL8 region (chr12) identified by GWAS for association with HDL-C levels
PMID: 20370913
9
OSBPL8 polymorphisms associated with decreased kidney stone disease risk in females and linked to lipid metabolism traits
PMID: 39761801
Disease Associationsⓘ20
complex regional pain syndromeOpen Targets
0.32Weak
Abnormality of the genital systemOpen Targets
0.27Weak
liver diseaseOpen Targets
0.24Weak
eye diseaseOpen Targets
0.24Weak
breast benign neoplasmOpen Targets
0.17Weak
cervical carcinomaOpen Targets
0.11Weak
systemic lupus erythematosusOpen Targets
0.10Weak
non-small cell lung carcinomaOpen Targets
0.07Suggestive
familial hypercholesterolemiaOpen Targets
0.06Suggestive
hypertriglyceridemia 2Open Targets
0.06Suggestive
gastric cancerOpen Targets
0.06Suggestive
hypoalphalipoproteinemia, primary, 2, intermediateOpen Targets
0.06Suggestive
Combined hyperlipidemiaOpen Targets
0.05Suggestive
plasma fibronectin deficiencyOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
hyperlipidemia due to hepatic triglyceride lipase deficiencyOpen Targets
0.05Suggestive
colorectal carcinomaOpen Targets
0.05Suggestive
Hyperlipoproteinemia type 1Open Targets
0.05Suggestive
homozygous familial hypercholesterolemiaOpen Targets
0.05Suggestive
hypoalphalipoproteinemia, primary, 1Open Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RMDN3Protein interaction99%PLEK2Protein interaction70%OSBPL5Protein interaction48%C1QTNF12Shared pathway20%ERFEShared pathway19%OSBPL11Shared pathway18%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
92%
Heart
68%
Lung
66%
Ovary
31%
Liver
28%
Gene Interaction Network
Click a node to explore
OSBPL8RMDN3PLEK2OSBPL5C1QTNF12ERFEOSBPL11
PROTEIN STRUCTURE
Preparing viewer…
PDB5U78 · 1.98 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.60Moderately Constrained
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.44 [0.34–0.60]
RankingsWhere OSBPL8 stands among ~20K protein-coding genes
  • #3,536of 20,598
    Most Researched132 · top quartile
  • #4,075of 17,882
    Most Constrained (LOEUF)0.60 · top quartile
Genes detectedOSBPL8
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Dysfunction of autophagy in high-fat diet-induced non-alcoholic fatty liver disease.
PMID: 37700498
Autophagy · 2024
1.00
2
A GPX1-OSBPL8 axis mediates noncanonical in vivo ferroptosis and cancer growth suppression.
PMID: 41720096
Cell · 2026
0.89
3
The expression, immune infiltration, prognosis, and experimental validation of OSBPL family genes in liver cancer.
PMID: 36918840
BMC Cancer · 2023
0.78
4
Gender difference in the association of OSBPL8 polymorphisms with nephrolithiasis within a Chinese cohort.
PMID: 39761801
Gene · 2025
0.67
5
ORP5 and ORP8: Sterol Sensors and Phospholipid Transfer Proteins at Membrane Contact Sites?
PMID: 32570981
Biomolecules · 2020
0.56