OSBPL8 Gene: Function, Expression, and Disease Associations

OSBPL8 encodes oxysterol-binding protein-like protein 8 (ORP8), a member of the oxysterol-binding protein (OSBP) family. These proteins are involved in lipid transport and metabolism, particularly the intracellular transport of oxysterols and other lipids. ORP8 is localized to the endoplasmic reticulum (ER) and nuclear envelope, and it plays a role in regulating lipid homeostasis, cell signaling, and gene expression. It has been implicated in various cellular processes including apoptosis, cell proliferation, and immune responses. Alterations in OSBPL8 expression have been associated with several cancers and metabolic conditions.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Oxysterol transport

• Lipid metabolism

• PI3K-Akt signaling pathway

• MAPK signaling pathway

• Sterol regulatory element-binding protein (SREBP) signaling

The OSBPL8 protein (ORP8) is a 765-amino acid protein with an N-terminal pleckstrin homology (PH) domain and a C-terminal oxysterol-binding domain. It localizes to the ER and nuclear envelope, where it binds oxysterols and other lipids, facilitating their transport and influencing lipid metabolism. ORP8 interacts with various proteins, including the ER-resident protein VAPB, and modulates signaling pathways such as PI3K/Akt and MAPK. It has been shown to regulate cell proliferation, apoptosis, and immune responses. In cancer, OSBPL8 expression is often dysregulated, with both tumor-suppressive and oncogenic roles reported depending on the context.