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GeneE
6 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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OR8U8
olfactory receptor family 8 subfamily U member 8
Chromosome 11 · 11q11
NCBI Gene: 504189Ensembl: ENSG00000262315.4HGNC: HGNC:27538UniProt: A0AAG2T390
4PubMed Papers
0Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sensory perception of smellolfactory receptor activityG protein-coupled receptor signaling pathwayplasma membrane
✦AI Summary

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.

Sources cited
1
OR8U8 DNA methylation (cg00045227) is causally associated with increased IPF risk (OR: 1.16, 95% CI: 1.08-1.24)
PMID: 39425105
2
OR8U8 is a novel genetic locus associated with coffee consumption in genome-wide association study of ~370,000 participants
PMID: 31046077
3
OR8U8 (rs1945213) shows significant association with ETV6-RUNX1-positive childhood acute lymphoblastic leukemia susceptibility (OR=0.69)
PMID: 22076464
4
OR8U8 (collapsed with OR8U1) emerges as susceptibility candidate for respiratory syncytial virus disease through rare variant analysis
PMID: 29162850
5
OR8U8 is one of five genetic loci identified in GWAS associated with basal metabolic rate in obese/overweight Korean women
PMID: 30990731
6
OR8U8 is significantly associated with early recurrence in Luminal A breast cancer (p < 0.05)
PMID: 41219734
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
OR1D2Shared pathway100%OR1D5Shared pathway100%OR6A2Shared pathway100%OR5D3Shared pathway100%OR5I1Shared pathway100%OR1C1Shared pathway100%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
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OR8U8OR1D2OR1D5OR6A2OR5D3OR5I1OR1C1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt A0AAG2T390
View on AlphaFold ↗
RankingsWhere OR8U8 stands among ~20K protein-coding genes
  • #18,702of 20,598
    Most Researched4
Genes detectedOR8U8
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Plasma genome-wide mendelian randomization identifies potentially causal genes in idiopathic pulmonary fibrosis.
PMID: 39425105
Respir Res · 2024
1.00
2
A genome-wide association study of bitter and sweet beverage consumption.
PMID: 31046077
Hum Mol Genet · 2019
0.83
3
Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.
PMID: 22076464
Leukemia · 2012
0.67
4
Whole Exome Sequencing reveals new candidate genes in host genomic susceptibility to Respiratory Syncytial Virus Disease.
PMID: 29162850
Sci Rep · 2017
0.50
5
Metabolomics Associated with Genome-Wide Association Study Related to the Basal Metabolic Rate in Overweight/Obese Korean Women.
PMID: 30990731
J Med Food · 2019
0.33