OR8U8 is an olfactory receptor belonging to the G protein-coupled receptor (GPCR) family, localized to the plasma membrane and involved in sensory perception of smell through G protein-coupled receptor signaling [Gene Ontology annotations]. Beyond its canonical olfactory function, OR8U8 has emerged as a genetic susceptibility locus across multiple disease contexts. Genetically determined OR8U8 expression levels show causal association with idiopathic pulmonary fibrosis (IPF) risk through DNA methylation at the cg00045227 site, with increased methylation positively associated with IPF development (OR: 1.16, 95% CI: 1.08-1.24) 1. OR8U8 was identified as a novel genetic locus associated with coffee consumption in a large genome-wide association study, suggesting potential involvement in behavioral or metabolic responses to caffeine 2. The gene also appears relevant to childhood acute lymphoblastic leukemia (ALL) susceptibility, with a significant association identified in ETV6-RUNX1-positive cases 3. OR8U8 variants have been implicated in respiratory syncytial virus disease susceptibility through collapsing analysis of rare variants in olfactory receptor genes 4, and in basal metabolic rate regulation in obese/overweight populations 5. Most recently, OR8U8 was identified among eight genes significantly associated with early recurrence in Luminal A breast cancer 6. These findings suggest OR8U8 functions extend beyond olfaction, potentially influencing immune response, metabolic, and oncogenic pathways.
No tissue expression data available for this gene.