OSBP2 (Oxysterol Binding Protein 2)
A lipid transport and sterol sensing gene implicated in cancer and neurological disorders
Gene Information Card
| Symbol | OSBP2 |
|---|---|
| Full Name | Oxysterol Binding Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q12.2 |
| NCBI Gene ID | 114882 ncbi.nlm.nih.gov/gene/114882 |
| Ensembl ID | ENSG00000100226 |
| UniProt ID | Q969R2 |
| OMIM ID | 606921 |
| HGNC ID | 16338 |
| Aliases | ORP4, OSBPL2, FLJ20202 |
Description
OSBP2 (Oxysterol Binding Protein 2) encodes a member of the oxysterol-binding protein (OSBP) family, which is involved in lipid transport, sterol sensing, and cellular signaling. The protein binds oxysterols and other sterols, regulating cholesterol homeostasis and vesicle trafficking. OSBP2 is expressed in multiple tissues and has been implicated in cancer progression and neurological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | OSBP2 overexpression may promote cell proliferation and migration through altered lipid signaling and PI3K/AKT pathway activation. | COSMIC; PMID: 25691885 |
| Retinitis pigmentosa | Mutations in OSBP2 have been associated with retinal degeneration, possibly due to disrupted sterol transport in photoreceptor cells. | OMIM #606921; PMID: 20673862 |
| Intellectual disability | Rare copy number variants involving OSBP2 have been reported in patients with neurodevelopmental disorders. | ClinVar; PMID: 25217958 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Retina | 15.2 | Medium |
| Liver | 3.1 | Low |
| Lung | 5.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.4 | Embryonic kidney cells |
| SH-SY5Y | 14.8 | Neuroblastoma cells |
| HepG2 | 6.2 | Hepatocellular carcinoma cells |
| MCF7 | 9.1 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Unknown functional impact; reported in ClinVar as variant of uncertain significance |
| c.1876G>A (p.Gly626Arg) | Missense | <0.01% | Associated with retinitis pigmentosa in a single family |
| c.2230_2231del (p.Leu744fs) | Frameshift | <0.01% | Predicted loss of function; reported in COSMIC in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Leu744fs) are predicted to cause loss of protein function, potentially contributing to retinal degeneration.
Gain of Function (GOF)
No well-characterized gain-of-function mutations have been reported for OSBP2.
Dominant Negative (DN)
No evidence of dominant-negative effects currently documented.
View complete mutation data：
Gene Ontology (GO)
| • lipid binding (GO:0008289) | • sterol binding (GO:0032934) |
| • Golgi apparatus (GO:0005794) | • vesicle-mediated transport (GO:0016192) |
| • lipid metabolic process (GO:0006629) |
Pathways
• Oxysterol binding protein pathway (Reactome: R-HSA-196854)
• Cholesterol metabolism (KEGG: hsa04979)
Protein Summary
OSBP2 is a 747-amino acid protein containing a pleckstrin homology (PH) domain and an oxysterol-binding (OSBP) domain. It localizes to the Golgi apparatus and mediates sterol transport between membranes. The protein also interacts with phosphatidylinositol 4-phosphate (PI4P) and regulates lipid signaling cascades. OSBP2 is highly expressed in brain and retina, and its dysregulation is linked to cancer and retinal degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OSBP2 Knockout HEK293 Cell Line | EDJ-KQ8134 | Human | 23762 | Details Get a Quote |
| OSBP2 Knockout A-549 Cell Line | EDJ-KQ34021 | Human | 23762 | Details Get a Quote |
| OSBP2 Knockout HCT 116 Cell Line | EDJ-KQ34022 | Human | 23762 | Details Get a Quote |
| OSBP2 Knockout HeLa Cell Line | EDJ-KQ34023 | Human | 23762 | Details Get a Quote |
