Gene: OSBPL2

Alternate names for this Gene: DFNA67|DNFA67|ORP-2|ORP2

Gene Summary: 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.

Gene is located in Chromosome: 20

Location in Chromosome : 20q13.33

Description of this Gene: oxysterol binding protein like 2

Type of Gene: protein-coding

rs35636653 in OSBPL2 gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.