OR2G3
Chr 1olfactory receptor family 2 subfamily G member 3
Also known as: OR1-33
OR2G3 encodes an olfactory receptor that functions as a G-protein-coupled receptor to detect odorant molecules and initiate smell perception through neuronal signaling. This gene is not known to be associated with any Mendelian diseases or clinical phenotypes in humans. The gene shows low constraint against loss-of-function variants (LOEUF 1.42), consistent with the general tolerance of olfactory receptor genes to variation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
147 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 64 | 0 | 64 |
Likely Pathogenic | 0 | 0 | 6 | 0 | 6 |
VUS | 0 | 48 | 22 | 0 | 70 |
Likely Benign | 0 | 3 | 1 | 0 | 4 |
Benign | 0 | 2 | 1 | 0 | 3 |
| Total | 0 | 53 | 94 | 0 | 147 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
OR2G3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools