Aliases for OSBPL2 Gene
External Ids for OSBPL2 Gene
Previous GeneCards Identifiers for OSBPL2 Gene
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 Golgi apparatus. Transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2014]
GeneCards Summary for OSBPL2 Gene
OSBPL2 (Oxysterol Binding Protein Like 2) is a Protein Coding gene. Diseases associated with OSBPL2 include Deafness, Autosomal Dominant 67 and Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna. Among its related pathways are Metabolism and Synthesis of bile acids and bile salts. GO annotations related to this gene include cholesterol binding. An important paralog of this gene is OSBPL1A.
UniProtKB/Swiss-Prot for OSBPL2 Gene
Binds phospholipids; exhibits strong binding to phosphatidic acid and weak binding to phosphatidylinositol 3-phosphate (PubMed:11279184). Binds 25-hydroxycholesterol (PubMed:17428193).