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. GO annotations related to this gene include cholesterol binding. An important paralog of this gene is OSBP.
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).