Gene: OSBPL3

Alternate names for this Gene: ORP-3|ORP3|OSBP3

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. The encoded protein is involved in the regulation of cell adhesion and organization of the actin cytoskeleton. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 7

Location in Chromosome : 7p15.3

Description of this Gene: oxysterol binding protein like 3

Type of Gene: protein-coding

rs17214144 in OSBPL3 gene and Calcification of coronary artery PMID 29221444 2017 Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes.

rs134 in OSBPL3 gene and Crohn Disease PMID 17804789 2007 Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.

rs17214144 in OSBPL3 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 29221444 2017 Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes.

rs142915233 in OSBPL3 gene and Drug-induced neutropenia PMID 28762467 2018 Sulfasalazine-Induced Agranulocytosis Is Associated With the Human Leukocyte Antigen Locus.

rs10248878 in OSBPL3 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.