OR2T11
Chr 1olfactory receptor family 2 subfamily T member 11
Also known as: OR2T11Q
OR2T11 encodes an olfactory receptor that interacts with odorant molecules to initiate neuronal responses triggering smell perception through G-protein-coupled receptor signaling. This gene is a segregating pseudogene where some individuals carry functional alleles while others have non-functional variants, but no specific diseases have been established from OR2T11 mutations. The gene shows very low constraint against loss-of-function variants, consistent with its variable functionality across populations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function 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
149 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 | 63 | 0 | 63 |
Likely Pathogenic | 0 | 0 | 6 | 0 | 6 |
VUS | 0 | 60 | 10 | 0 | 70 |
Likely Benign | 1 | 3 | 1 | 0 | 5 |
Benign | 1 | 0 | 4 | 0 | 5 |
| Total | 2 | 63 | 84 | 0 | 149 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
OR2T11 · 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 →External Resources
Links to major genomics databases and tools