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5 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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OR13G1
olfactory receptor family 13 subfamily G member 1
Chromosome 1 · 1q44
NCBI Gene: 441933Ensembl: ENSG00000197437.5HGNC: HGNC:14999UniProt: Q8NGZ3
13PubMed Papers
5Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Receptor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
detection of chemical stimulus involved in sensory perception of smellmembraneodorant bindingolfactory receptor activityinfectionmyocardial infarctionchronic kidney diseasehead and neck malignant neoplasia
✦AI Summary

OR13G1 encodes an olfactory receptor that functions as a G protein-coupled receptor involved in odorant detection and sensory perception of smell. The receptor binds odorant molecules and mediates chemical stimulus detection through activation of olfactory signal transduction pathways. OR13G1 has been investigated in genetic association studies for cardiovascular and renal disease. A genome-wide association study identified the OR13G1 rs1151640 polymorphism as associated with myocardial infarction risk (odds ratio 1.40 for carriers of two risk alleles) 1. This finding was subsequently replicated in a familial hypercholesterolemia cohort, where the same polymorphism showed association with coronary heart disease (hazard ratio 1.14, P=0.03) 2. However, three independent replication studies failed to validate these associations in different populations 34, suggesting the initial findings may represent false-positives from multiple testing or population-specific effects. OR13G1 was also identified in a candidate gene study as associated with chr1 kidney disease prevalence in Japanese individuals with metabolic syndrome 5, though the mechanism linking an olfactory receptor to kidney disease remains unclear. Clinically, the inconsistent replication of OR13G1 associations highlights the challenges in translating genome-wide association findings to clinical practice and emphasizes the need for rigorous validation before implementation in disease risk prediction.

Sources cited
1
OR13G1 polymorphism associated with myocardial infarction risk (OR 1.40) in initial genome-wide association study
PMID: 16175505
2
OR13G1 rs1151640 polymorphism confirmed associated with coronary heart disease in familial hypercholesterolemia population (HR 1.14, P=0.03)
PMID: 18599554
3
OR13G1 SNP not validated in independent replication study of early-onset myocardial infarction
PMID: 17967605
4
OR13G1 polymorphism rs1151640 showed no significant association with myocardial infarction in large replication cohort
PMID: 19709766
5
OR13G1 polymorphism identified as associated with chronic kidney disease in Japanese individuals with metabolic syndrome
PMID: 19056482
Disease Associationsⓘ5
infectionOpen Targets
0.01Suggestive
myocardial infarctionOpen Targets
0.01Suggestive
chronic kidney diseaseOpen Targets
0.00Suggestive
head and neck malignant neoplasiaOpen Targets
0.00Suggestive
head and neck squamous cell carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LOC124905359Shared pathway100%OR4M2BShared pathway100%LOC112268384Shared pathway100%OR4N4CShared pathway100%OR9G9Shared pathway100%OR2A2Shared pathway100%
Tissue Expression6 tissues
Brain
0%
Bone Marrow
0%
Heart
0%
Ovary
0%
Liver
0%
Lung
0%
Gene Interaction Network
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OR13G1LOC124905359OR4M2BLOC112268384OR4N4COR9G9OR2A2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8NGZ3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.87LoF Tolerant
pLIⓘ
0.32Tolerant
Observed/Expected LoF0.00 [0.00–1.87]
RankingsWhere OR13G1 stands among ~20K protein-coding genes
  • #16,242of 20,598
    Most Researched13
  • #17,020of 17,882
    Most Constrained (LOEUF)1.87
Genes detectedOR13G1
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Identification of four gene variants associated with myocardial infarction.
PMID: 16175505
Am J Hum Genet · 2005
1.00
2
Replication study of 10 genetic polymorphisms associated with coronary heart disease in a specific high-risk population with familial hypercholesterolemia.
PMID: 18599554
Eur Heart J · 2008
0.80
3
Associations with myocardial infarction of six polymorphisms selected from a three-stage genome-wide association study.
PMID: 17967605
Am Heart J · 2007
0.60
4
Variations of specific non-candidate genes and risk of myocardial infarction: a replication study.
PMID: 19709766
Int J Cardiol · 2011
0.40
5
Association of a polymorphism of the apolipoprotein E gene with chronic kidney disease in Japanese individuals with metabolic syndrome.
PMID: 19056482
Genomics · 2009
0.20