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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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OSBP2
oxysterol binding protein 2
Chromosome 22 · 22q12.2
NCBI Gene: 23762Ensembl: ENSG00000184792.17HGNC: HGNC:8504UniProt: Q969R2
53PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cholesterol bindingprotein bindingspermatid developmentcytosolsmoking initiationinsomniaAbnormality of the genital systemjoint disease
✦AI Summary

OSBP2 (oxysterol binding protein 2) is a membrane-associated lipid transport protein that specifically binds oxysterols, particularly 7-ketocholesterol 1. The protein is predominantly expressed in retina, testis, and fetal liver, with subcellular localization studies showing exclusive association with detergent-soluble membrane fractions rather than cytosolic compartments 1. OSBP2 functions in lipid homeostasis and cellular signaling, though its precise mechanism remains incompletely defined. The protein shows tissue-specific expression patterns, being highly expressed in retinal pigmented epithelium underlying the macular region 2. Disease relevance includes potential involvement in age-related macular degeneration pathogenesis, where oxysterol cytotoxicity may contribute to macular damage 2. OSBP2 expression is elevated in various malignancies, including chr22 myeloid leukemia 3 and cholangiocarcinoma, where it may serve as a biomarker for tumor metastasis 4. In hepatocellular carcinoma, OSBP2 is associated with poor prognosis, immune evasion, and chemotherapy resistance 5. The protein also shows altered expression in chr22 chikungunya infection 6 and neurodevelopmental disorders 7, suggesting broader roles in cellular homeostasis beyond lipid metabolism.

Sources cited
1
OSBP2 binds 7-ketocholesterol and is membrane-associated, expressed mainly in retina, testis, and fetal liver
PMID: 11278871
2
OSBP2 is expressed in retinal pigmented epithelium and may be involved in age-related macular degeneration pathogenesis
PMID: 18294060
3
OSBP2 is expressed in chronic myeloid leukemia and may be involved in maintaining undifferentiated state
PMID: 12964051
4
OSBP2 expression is increased in cholangiocarcinoma and may serve as a biomarker for tumor metastasis
PMID: 21763455
5
OSBP2 is associated with poor prognosis, immune evasion, and chemotherapy resistance in hepatocellular carcinoma
PMID: 37903971
6
OSBP2 shows altered expression in chronic chikungunya infection
PMID: 39999933
7
OSBP2 is upregulated in neurodevelopmental disorders associated with SMG9 variants
PMID: 35087184
Disease Associationsⓘ20
smoking initiationOpen Targets
0.34Weak
insomniaOpen Targets
0.32Weak
Abnormality of the genital systemOpen Targets
0.32Weak
joint diseaseOpen Targets
0.28Weak
cataractOpen Targets
0.26Weak
trauma complicationOpen Targets
0.26Weak
cervical carcinomaOpen Targets
0.24Weak
alcohol drinkingOpen Targets
0.23Weak
musculoskeletal system diseaseOpen Targets
0.21Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.18Weak
azoospermiaOpen Targets
0.10Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
spermatogenic failure 78Open Targets
0.07Suggestive
spermatogenic failure 65Open Targets
0.07Suggestive
spermatogenic failure 54Open Targets
0.07Suggestive
spermatogenic failure 84Open Targets
0.07Suggestive
spermatogenic failure 93Open Targets
0.07Suggestive
spermatogenic failure 91Open Targets
0.07Suggestive
spermatogenic failure 56Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FNDC3AShared pathway100%SPANXB1Shared pathway100%SPACDRShared pathway100%DPY19L2Shared pathway100%CCDC42Shared pathway100%CCDC159Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
21%
Brain
12%
Lung
3%
Ovary
3%
Liver
2%
Gene Interaction Network
Click a node to explore
OSBP2FNDC3ASPANXB1SPACDRDPY19L2CCDC42CCDC159
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q969R2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.89LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.73 [0.59–0.89]
RankingsWhere OSBP2 stands among ~20K protein-coding genes
  • #8,469of 20,598
    Most Researched53
  • #8,016of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedOSBP2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Integrated analysis of histone lysine lactylation (Kla)-specific genes suggests that NR6A1, OSBP2 and UNC119B are novel therapeutic targets for hepatocellular carcinoma.
PMID: 37903971
Sci Rep · 2023
1.00
2
Molecular and biochemical characterization of a novel oxysterol-binding protein (OSBP2) highly expressed in retina.
PMID: 11278871
J Biol Chem · 2001
0.90
3
HLM/OSBP2 is expressed in chronic myeloid leukemia.
PMID: 12964051
Int J Mol Med · 2003
0.80
4
Expression of oxysterol binding protein isoforms in opisthorchiasis-associated cholangiocarcinoma: a potential molecular marker for tumor metastasis.
PMID: 21763455
Parasitol Int · 2012
0.70
5
Mutation analysis of oxisterol-binding-protein gene in patients with age-related macular degeneration.
PMID: 18294060
Genet Test · 2007
0.60