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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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OSBPL9
oxysterol binding protein like 9
Chromosome 1 · 1p32.3
NCBI Gene: 114883Ensembl: ENSG00000117859.20HGNC: HGNC:16386UniProt: B1AKJ6
76PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
phosphatidylserine-phosphatidylinositol-4-phosphate exchange activityprotein bindingphospholipid transfer to membranephospholipid homeostasistooth diseaseresponse to statinArthropathyankylosing spondylitis
✦AI Summary

OSBPL9 (Oxysterol Binding Protein Like 9) functions as a lipid transfer protein that mediates phospholipid exchange between cellular organelles. It forms a heterodimer with OSBPL11 that localizes at ER-trans-Golgi membrane contact sites and exchanges phosphatidylserine for phosphatidylinositol-4-phosphate between these organelles, a critical step in sphingomyelin synthesis 1. OSBPL9 belongs to a large family of lipid transport proteins and interacts with various cellular partners including OSBP, LRP1, and CREB3, suggesting involvement in multiple cellular processes including N-glycosylation pathways 2. Disease relevance is emerging, with homozygous nonsense variants causing severe fetal malformations including cerebral ventriculomegaly, cerebellar hypoplasia, and arthrogryposis multiplex in an autosomal recessive pattern 3. OSBPL9 shows altered expression in multiple cancers, being downregulated in liver cancer 4 and identified as a potential tumor antigen for bladder cancer mRNA vaccines 5. Additionally, it has been identified as a prognostic biomarker in colorectal cancer 6 and appears to play a role in ferroptosis-related pathways in endometriosis 7. The protein's involvement in viral infections is also suggested through interactions with flavivirus NS5 proteins 8.

Sources cited
1
OSBPL9 forms heterodimer with OSBPL11 for phospholipid exchange at ER-trans-Golgi contact sites
PMID: 39106189
2
Homozygous nonsense variants cause fetal malformations including ventriculomegaly and cerebellar hypoplasia
PMID: 40182349
3
OSBPL9 interacts with OSBP, LRP1, and CREB3 in cellular processes including N-glycosylation
PMID: 29547901
4
OSBPL9 is downregulated in liver cancer at protein level
PMID: 36918840
5
OSBPL9 identified as potential tumor antigen for bladder cancer mRNA vaccines
PMID: 36761744
6
OSBPL9 is part of 19-gene signature predicting colorectal cancer survival
PMID: 27609023
7
OSBPL9 involved in ferroptosis-related pathways in endometriosis
PMID: 39872538
8
OSBPL9 interacts with flavivirus NS5 proteins suggesting role in viral infections
PMID: 31199156
Disease Associationsⓘ20
tooth diseaseOpen Targets
0.30Weak
response to statinOpen Targets
0.26Weak
ArthropathyOpen Targets
0.25Weak
ankylosing spondylitisOpen Targets
0.24Weak
duodenitisOpen Targets
0.23Weak
hyperparathyroidismOpen Targets
0.17Weak
infantile epilepsy syndromeOpen Targets
0.12Weak
atrial fibrillationOpen Targets
0.05Suggestive
Abnormality of the skeletal systemOpen Targets
0.03Suggestive
cerebral infarctionOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
arthrogryposisOpen Targets
0.01Suggestive
bladder transitional cell carcinomaOpen Targets
0.00Suggestive
chronic myelogenous leukemiaOpen Targets
0.00Suggestive
Adams-Oliver syndromeOpen Targets
0.00Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
atherosclerosisOpen Targets
0.00Suggestive
diabetic nephropathyOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
Intellectual disabilityOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
VAPBProtein interaction99%VAPAProtein interaction99%OSBPL11Protein interaction67%OSBPL10Shared pathway43%OSBPL3Shared pathway40%OSBPL6Shared pathway33%
Tissue Expression6 tissues
Liver
100%
Lung
95%
Ovary
90%
Heart
87%
Bone Marrow
57%
Brain
42%
Gene Interaction Network
Click a node to explore
OSBPL9VAPBVAPAOSBPL11OSBPL10OSBPL3OSBPL6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96SU4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.41Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.29 [0.21–0.41]
RankingsWhere OSBPL9 stands among ~20K protein-coding genes
  • #6,271of 20,598
    Most Researched76
  • #2,168of 17,882
    Most Constrained (LOEUF)0.41 · top quartile
Genes detectedOSBPL9
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The First Known Case Report of a Novel Homozygous Nonsense Variant in the OSBPL9 Gene Associated With Fetal Cerebral Ventriculomegaly, Cerebellar Hypoplasia, and Arthrogryposis Multiplex.
PMID: 40182349
Cureus · 2025
1.00
2
New insights into the ferroptosis and immune infiltration in endometriosis: a bioinformatics-based analysis.
PMID: 39872538
Front Immunol · 2024
0.90
3
The expression, immune infiltration, prognosis, and experimental validation of OSBPL family genes in liver cancer.
PMID: 36918840
BMC Cancer · 2023
0.80
4
Molecular partners of hNOT/ALG3, the human counterpart of the Drosophila NOT and yeast ALG3 gene, suggest its involvement in distinct cellular processes relevant to congenital disorders of glycosylation, cancer, neurodegeneration and a variety of further pathologies.
PMID: 29547901
Hum Mol Genet · 2018
0.70
5
Identification of tumor antigens and immune landscapes for bladder urothelial carcinoma mRNA vaccine.
PMID: 36761744
Front Immunol · 2023
0.60