OSBPL2
Function
Intracellular transport protein that binds sterols and phospholipids and mediates lipid transport between intracellular compartments. Increases plasma membrane cholesterol levels and decreases phosphatidylinositol-4,5-bisphosphate levels in the cell membrane (PubMed:30581148). Binds phosphoinositides, such as phosphatidylinositol-4,5-bisphosphate (PubMed:30581148). Exhibits strong binding to phosphatidic acid and weak binding to phosphatidylinositol 3-phosphate (PubMed:11279184). Binds cholesterol, dehydroergosterol, 22(R)-hydroxycholesterol and 25-hydroxycholesterol (in vitro) (PubMed:17428193, PubMed:19224871, PubMed:30581148).
Involvement in disease
Deafness, autosomal dominant, 67
DFNA67
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the OSBP family.
Tissue Specificity
Widely expressed.
Cellular localization
- Cytoplasm
- Cytosol
- Lipid droplet
- Cell membrane
- Peripheral membrane protein
- Cytoplasmic side
- Detected on the surface of cytosolic lipid droplets (PubMed:19224871). Recruited to the cell membrane by phosphatidylinositol-phosphate binding (PubMed:30581148).
Alternative names
KIAA0772, ORP2, OSBPL2, Oxysterol-binding protein-related protein 2, ORP-2, OSBP-related protein 2