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4 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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OR51B2
olfactory receptor family 51 subfamily B member 2
Chromosome 11 · 11p15.4
NCBI Gene: 79345Ensembl: ENSG00000279012.2HGNC: HGNC:14703UniProt: A0A126GWB2
9PubMed Papers
2Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Receptor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membraneolfactory receptor activitysystem processG protein-coupled receptor signaling pathwayinherited hemoglobinopathyhepatocellular carcinoma
✦AI Summary

OR51B2 is an olfactory receptor family member located on chromosome 11 that functions as an odorant receptor with plasma membrane localization. Primary Function: OR51B2 encodes a G-protein coupled receptor involved in odorant detection and olfactory perception. A SNP in OR51B2 (rs10837814) was found to be significantly associated with perception of trans-3-methyl-2-hexenoic acid, a key component of human underarm odor 1. Mechanism: As a member of the olfactory receptor gene cluster on chromosome 11, OR51B2 may participate in odor coding through differential receptor activation patterns that converge on similar olfactory percepts 1. The gene cluster containing OR51B2 and neighboring olfactory receptor genes appears to possess regulatory elements that may influence gamma-globin gene expression 2. Disease Relevance: Polymorphisms in OR51B2 have been associated with phenotypic severity in β-thalassemia patients. The rs6578605 SNP in OR51B2 showed significant association with disease severity (P=0.018, OR=0.52), suggesting a protective effect of certain alleles 3. Clinical Significance: While OR51B2 SNPs showed univariate association with hydroxyurea response in β-thalassemia, this association did not remain significant in multivariate analysis 4. The gene's regulatory role in hemoglobin expression may offer therapeutic implications for hemoglobinopathy management.

Sources cited
1
SNP in OR51B2 associated with perception of trans-3-methyl-2-hexenoic acid in human underarm odor
PMID: 35113854
2
OR51B2 rs10837814 SNP showed univariate association with hydroxyurea response in β-thalassemia intermedia
PMID: 28121747
3
OR51B2 rs6578605 polymorphism associated with phenotypic severity in β-thalassemia patients
PMID: 30289070
4
OR51B2 identified in chromosome 11 olfactory receptor gene cluster with potential regulatory role in gamma-globin gene expression
PMID: 20018918
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ2
inherited hemoglobinopathyOpen Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
OR51A2Shared pathway100%OR51A4Shared pathway100%OR51T1Shared pathway100%OR51C1Shared pathway100%OR56A5Shared pathway100%OR56A3Shared pathway100%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
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OR51B2OR51A2OR51A4OR51T1OR51C1OR56A5OR56A3
PROTEIN STRUCTURE
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PDB6LBG · 2.51 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.86LoF Tolerant
pLIⓘ
0.32Tolerant
Observed/Expected LoF0.00 [0.00–1.86]
RankingsWhere OR51B2 stands among ~20K protein-coding genes
  • #17,404of 20,598
    Most Researched9
  • #16,940of 17,882
    Most Constrained (LOEUF)1.86
Genes detectedOR51B2
Sources retrieved4 papers
Response time—
📄 Sources
4
1
From musk to body odor: Decoding olfaction through genetic variation.
PMID: 35113854
PLoS Genet · 2022
1.00
2
Relationship Between Some Single-nucleotide Polymorphism and Response to Hydroxyurea Therapy in Iranian Patients With β-Thalassemia Intermedia.
PMID: 28121747
J Pediatr Hematol Oncol · 2017
0.75
3
Genetic Modifiers of Fetal Haemoglobin (HbF) and Phenotypic Severity in β-Thalassemia Patients.
PMID: 30289070
Curr Mol Med · 2018
0.50
4
Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster.
PMID: 20018918
Blood · 2010
0.25