OSBP (Oxysterol Binding Protein) Gene
Key regulator of lipid transport and cellular signaling
Gene Information Card
| Symbol | OSBP |
|---|---|
| Full Name | Oxysterol Binding Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 11q12.1 |
| NCBI Gene ID | 5007 ncbi.nlm.nih.gov/gene/5007 |
| Ensembl ID | ENSG00000110080 |
| UniProt ID | P22059 |
| OMIM ID | 167040 |
| HGNC ID | 8103 |
| Aliases | OSBP1, OSBP2 |
Description
The OSBP gene encodes oxysterol binding protein, a cytosolic protein that binds oxysterols and mediates cholesterol transport between the endoplasmic reticulum and Golgi apparatus. It plays a critical role in lipid homeostasis, vesicle trafficking, and cell signaling. OSBP is implicated in cancer, viral replication, and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | OSBP overexpression promotes lipid raft formation and oncogenic signaling | COSMIC, literature |
| Viral infection (e.g., enterovirus) | OSBP is hijacked for viral replication complex formation | PubMed, literature |
| Neurodegeneration | Dysregulation of oxysterol binding affects myelin and neuronal survival | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.7 | Low |
| Kidney | 9.1 | Low |
| Small intestine | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.0 | Liver cancer cell line |
| SH-SY5Y | 7.5 | Neuroblastoma cell line |
| A549 | 6.2 | Lung cancer cell line |
| HEK293 | 10.1 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003G>A (p.Gly335Arg) | missense | <0.01% | Unknown; rare variant |
| c.1420C>T (p.Arg474Cys) | missense | <0.01% | Unknown; rare variant |
| c.1765A>G (p.Ile589Val) | missense | <0.01% | Unknown; rare variant |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; rare missense variants may reduce oxysterol binding or localization.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT:191273 - Cholesterol biosynthesis
• REACT:111045 - Lipid transport
• REACT:116909 - Vesicle-mediated transport
Protein Summary
OSBP is a 807-amino acid protein containing an N-terminal pleckstrin homology (PH) domain and a C-terminal oxysterol-binding (OSB) domain. It localizes to membrane contact sites between the endoplasmic reticulum and Golgi, where it exchanges cholesterol for phosphatidylinositol-4-phosphate (PI4P), regulating lipid composition and signaling. OSBP is also a target for antiviral strategies against enteroviruses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OSBPL11 Knockout HEK293 Cell Line | EDJ-KQ2508 | Human | 114885 | Details Get a Quote |
| OSBPL5 Knockout HEK293 Cell Line | EDJ-KQ2769 | Human | 114879 | Details Get a Quote |
| OSBPL2 Knockout HEK293 Cell Line | EDJ-KQ6799 | Human | 9885 | Details Get a Quote |
| OSBPL8 Knockout HEK293 Cell Line | EDJ-KQ6826 | Human | 114882 | Details Get a Quote |
| OSBPL1A Knockout HEK293 Cell Line | EDC90446 | Human | 114876 | Details Get a Quote |
| OSBPL10 Knockout HEK293 Cell Line | EDJ-KQ7483 | Human | 114884 | Details Get a Quote |
| OSBPL9 Knockout HEK293 Cell Line | EDJ-KQ7484 | Human | 114883 | Details Get a Quote |
| OSBPL6 Knockout HEK293 Cell Line | EDJ-KQ7486 | Human | 114880 | Details Get a Quote |
| OSBPL7 Knockout HEK293 Cell Line | EDJ-KQ7487 | Human | 114881 | Details Get a Quote |
| OSBP2 Knockout HEK293 Cell Line | EDJ-KQ8134 | Human | 23762 | Details Get a Quote |
| OSBPL3 Knockout HEK293 Cell Line | EDJ-KQ8360 | Human | 26031 | Details Get a Quote |
| OSBPL11 Knockout A-549 Cell Line | EDJ-KQ23108 | Human | 114885 | Details Get a Quote |
| OSBPL11 Knockout HCT 116 Cell Line | EDJ-KQ23109 | Human | 114885 | Details Get a Quote |
| OSBPL11 Knockout HeLa Cell Line | EDJ-KQ23110 | Human | 114885 | Details Get a Quote |
| OSBPL3 Knockout HeLa Cell Line | EDJ-KQ33059 | Human | 26031 | Details Get a Quote |
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