OSBPL2

This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although the encoded protein contains only the sterol-binding domain. In vitro studies have shown that the encoded protein can bind strongly to phosphatic acid and weakly to phosphatidylinositol 3-phosphate, but cannot bind to 25-hydroxycholesterol. The protein associates with the Golgiapparatus. Transcript variants encoding different isoforms have been described.

Full Name

Oxysterol Binding Protein Like 2

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).

Biological Process

Bile acid biosynthetic processTAS:Reactome
Cholesterol transportManual Assertion Based On ExperimentIMP:ARUK-UCL
Intracellular cholesterol transportManual Assertion Based On ExperimentIMP:UniProtKB
Phospholipid transportManual Assertion Based On ExperimentIMP:ARUK-UCL
Plasma membrane organizationManual Assertion Based On ExperimentIMP:ARUK-UCL
Protein homotetramerizationManual Assertion Based On ExperimentIDA:UniProtKB

Cellular Location

Cytoplasm, cytosol
Lipid droplet
Cell membrane
Detected on the surface of cytosolic lipid droplets (PubMed:19224871).
Recruited to the cell membrane by phosphatidylinositol-phosphate binding (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.