OR8D2
Chr 11olfactory receptor family 8 subfamily D member 2
Also known as: JCG2
OR8D2 encodes an olfactory receptor that interacts with odorant molecules to initiate neuronal responses triggering smell perception and may be involved in taste perception. 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 OR8D2 mutations. The gene shows low constraint to loss-of-function variation (pLI = 0.21, LOEUF = 1.49), consistent with tolerance to functional loss.
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 (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
119 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 | 55 | 0 | 55 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 57 | 3 | 0 | 60 |
Likely Benign | 0 | 1 | 0 | 1 | 2 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 58 | 60 | 1 | 119 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
OR8D2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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