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9 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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OSBPL6
oxysterol binding protein like 6
Chromosome 2 · 2q31.2
NCBI Gene: 114880Ensembl: ENSG00000079156.18HGNC: HGNC:16388UniProt: Q9BZF3
41PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingregulation of cholesterol transportcytosolplasma membranesialolithiasiscircadian rhythm sleep disorderobesityLung Abscess
✦AI Summary

OSBPL6 encodes oxysterol binding protein-like 6 (ORP6), a lipid metabolism regulator with primary roles in cholesterol homeostasis. ORP6 localizes to endolysosomal and endoplasmic reticulum membranes, where it facilitates cholesterol trafficking and efflux between cellular compartments 1. The protein binds phosphatidylinositol-4-phosphate and related phosphoinositides via its pleckstrin homology domain, supporting phospholipid transfer functions. OSBPL6 expression is transcriptionally regulated by liver X receptor and cholesterol loading in macrophages and hepatocytes 1. Hepatic OSBPL6 expression correlates positively with plasma high-density lipoprotein cholesterol levels in healthy individuals and is reduced in atherosclerotic plaques 1. Clinically, OSBPL6 variants show genome-wide significant association with late-onset Alzheimer's disease risk (rs1347297, P=4.53×10⁻⁸) 2. Additionally, OSBPL6 genetic haplotypes associate with immune-related adverse events in immunotherapy patients, with risk allele carriers exhibiting significantly elevated rates of grade ≥2 and grade ≥3 adverse events (OR 3.02 and 3.59, respectively) 3. In liver cancer, OSBPL6 shows downregulated expression compared to normal tissue. OSBPL6 is also identified as a hub lipid metabolism gene in periodontitis pathogenesis through machine learning approaches 4. These findings establish OSBPL6 as a key regulator of lipid metabolism with broader implications for neurodegenerative, immunological, and inflammatory disease pathogenesis.

Sources cited
1
OSBPL6 regulates cholesterol trafficking and efflux; localizes to endolysosomal and ER membranes; transcriptionally regulated by LXR and cholesterol loading; hepatic expression correlates with HDL cholesterol
PMID: 26941018
2
OSBPL6 variant rs1347297 shows genome-wide significant association with Alzheimer's disease risk (P=4.53×10⁻⁸)
PMID: 26830138
3
OSBPL6 genetic haplotypes associate with immune-related adverse events in immunotherapy patients; risk haplotypes confer OR 3.02-3.59 for grade ≥2-≥3 adverse events
PMID: 41151836
4
OSBPL6 is downregulated at mRNA and protein levels in liver cancer samples compared to normal tissues
PMID: 36918840
5
OSBPL6 identified as hub lipid metabolism-related gene in periodontitis; downregulated in disease samples
PMID: 40819095
Disease Associationsⓘ20
sialolithiasisOpen Targets
0.27Weak
circadian rhythm sleep disorderOpen Targets
0.27Weak
obesityOpen Targets
0.26Weak
Lung AbscessOpen Targets
0.23Weak
cervical carcinomaOpen Targets
0.23Weak
bronchopneumoniaOpen Targets
0.23Weak
smoking initiationOpen Targets
0.15Weak
Blackfan-Diamond anemiaOpen Targets
0.09Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.07Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.07Suggestive
inosine triphosphatase deficiencyOpen Targets
0.07Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.07Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.07Suggestive
Autosomal dominant methemoglobinemiaOpen Targets
0.06Suggestive
delta-beta-thalassemiaOpen Targets
0.06Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.06Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.06Suggestive
hemoglobin D diseaseOpen Targets
0.06Suggestive
hemolytic anemia due to adenylate kinase deficiencyOpen Targets
0.06Suggestive
autosomal dominant sideroblastic anemiaOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
VAPBProtein interaction81%VAPAProtein interaction81%OSBPL3Shared pathway67%OSBPL9Shared pathway33%OSBPL7Shared pathway33%VAT1Shared pathway25%
Tissue Expression6 tissues
Brain
100%
Heart
56%
Liver
41%
Lung
34%
Ovary
13%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
OSBPL6VAPBVAPAOSBPL3OSBPL9OSBPL7VAT1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9BZF3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.47Moderately Constrained
pLIⓘ
0.99Intolerant
Observed/Expected LoF0.36 [0.28–0.47]
RankingsWhere OSBPL6 stands among ~20K protein-coding genes
  • #10,048of 20,598
    Most Researched41
  • #2,751of 17,882
    Most Constrained (LOEUF)0.47 · top quartile
Genes detectedOSBPL6
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.
PMID: 26830138
Mol Psychiatry · 2016
1.00
2
Genetic haplotypes in
PMID: 41151836
J Immunother Cancer · 2025
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
miRNA Targeting of Oxysterol-Binding Protein-Like 6 Regulates Cholesterol Trafficking and Efflux.
PMID: 26941018
Arterioscler Thromb Vasc Biol · 2016
0.67
5
Copy number variants in short children born small for gestational age.
PMID: 25300501
Horm Res Paediatr · 2014
0.56