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GeneE
7 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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OSBPL7
oxysterol binding protein like 7
Chromosome 17 · 17q21.32
NCBI Gene: 114881Ensembl: ENSG00000006025.14HGNC: HGNC:16387UniProt: Q8WXP9
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcholesterol bindingcellular response to cholesterolpositive regulation of proteasomal protein catabolic processprostate carcinomahair colorneurodegenerative diseaseasthma
✦AI Summary

OSBPL7 (oxysterol binding protein like 7) is a lipid-binding protein localized to the endoplasmic reticulum and plasma membrane that regulates cellular cholesterol homeostasis and autophagy. Primary function: OSBPL7 controls cholesterol efflux through ABCA1-dependent mechanisms 1 and regulates lipid metabolism in endothelial cells 2. Mechanism: The protein binds oxysterols and cholesterol 2, interacts with autophagy-related proteins including GABARAPL2 and LC3B 2, and associates with metabolic regulators like AKT1 2. Disease relevance: A novel OSBPL7 c.651_652del variant confers 17-fold increased odds for hypercholesterolemia in Malaysian populations 3. Small-molecule OSBPL7 inhibitors increase ABCA1-dependent cholesterol efflux and prevent renal function decline in proteinuric kidney disease models 1. OSBPL7 expression is elevated in cholangiocarcinoma tissues and blood of cancer patients, suggesting potential as a metastasis marker 4. Common variants near OSBPL7 are associated with eczema susceptibility 5. Clinical significance: OSBPL7-targeted therapeutics represent promising approaches for treating kidney disease, hypercholesterolemia, and potentially other disorders of cholesterol homeostasis.

Sources cited
1
OSBPL7 c.651_652del variant associates with 17-fold increased odds for hypercholesterolemia
PMID: 36980993
2
ORP7 localizes to ER and plasma membrane, interacts with autophagy proteins and AKT1, regulates lipid droplets and cholesterol efflux in endothelial cells
PMID: 39695567
3
Small molecules targeting OSBPL7 increase ABCA1-dependent cholesterol efflux and prevent renal function decline in kidney disease models
PMID: 34341345
4
Common variants at TBX21/OSBPL7 locus associated with eczema susceptibility
PMID: 34785669
5
OSBPL7 expression is elevated in cholangiocarcinoma tissues and patient blood samples
PMID: 21763455
Disease Associationsⓘ20
prostate carcinomaOpen Targets
0.40Weak
hair colorOpen Targets
0.34Weak
neurodegenerative diseaseOpen Targets
0.21Weak
asthmaOpen Targets
0.17Weak
encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1Open Targets
0.12Weak
Sensorineural hearing impairmentOpen Targets
0.09Suggestive
atrial fibrillationOpen Targets
0.08Suggestive
hearing lossOpen Targets
0.07Suggestive
chondromalaciaOpen Targets
0.04Suggestive
Chronic Obstructive AsthmaOpen Targets
0.04Suggestive
Barrett's esophagusOpen Targets
0.04Suggestive
Eczematoid dermatitisOpen Targets
0.03Suggestive
respiratory system diseaseOpen Targets
0.03Suggestive
HypercholesterolemiaOpen Targets
0.02Suggestive
lower respiratory tract diseaseOpen Targets
0.02Suggestive
kidney diseaseOpen Targets
0.01Suggestive
cholangiocarcinomaOpen Targets
0.01Suggestive
chronic kidney diseaseOpen Targets
0.01Suggestive
atopic eczemaOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
VAPAProtein interaction76%OSBPL3Shared pathway40%OSBPL6Shared pathway33%OSBPL9Shared pathway25%MTCL3Shared pathway20%DRAM1Shared pathway20%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
88%
Lung
79%
Heart
46%
Liver
18%
Brain
15%
Gene Interaction Network
Click a node to explore
OSBPL7VAPAOSBPL3OSBPL6OSBPL9MTCL3DRAM1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8WXP9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.71LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.58 [0.47–0.71]
RankingsWhere OSBPL7 stands among ~20K protein-coding genes
  • #13,262of 20,598
    Most Researched24
  • #5,399of 17,882
    Most Constrained (LOEUF)0.71
Genes detectedOSBPL7
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Hypercholesterolemia in the Malaysian Cohort Participants: Genetic and Non-Genetic Risk Factors.
PMID: 36980993
Genes (Basel) · 2023
1.00
2
Functional omics of ORP7 in primary endothelial cells.
PMID: 39695567
BMC Biol · 2024
0.86
3
Compounds targeting OSBPL7 increase ABCA1-dependent cholesterol efflux preserving kidney function in two models of kidney disease.
PMID: 34341345
Nat Commun · 2021
0.71
4
Targeting OSBPL7 restores cholesterol efflux.
PMID: 34545229
Nat Rev Nephrol · 2021
0.57
5
Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4.
PMID: 34785669
Nat Commun · 2021
0.43