OR8A1

Chr 11

olfactory receptor family 8 subfamily A member 1

Also known as: OR11-318, OST025

NCBI Gene: 390275ENSG00000196119UniProt: Q8NGG7

The OR8A1 protein is an olfactory receptor that binds odorant molecules and initiates G protein-mediated signal transduction for smell perception. This gene is not highly constrained against loss-of-function variants and is not currently associated with known Mendelian diseases. OR8A1 is part of the largest gene family in the human genome and functions specifically in olfactory sensory neurons.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
1
Pubs (1 yr)
60
P/LP submissions
0%
P/LP missense
1.50
LOEUF
Multiple*
Mechanism· predicted
Clinical Summary— OR8A1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
60 unique Pathogenic / Likely Pathogenic· 56 VUS of 116 total submissions
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.50LOEUF
pLI 0.005
Z-score 0.74
OE 0.67 (0.33–1.50)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.03Z-score
OE missense 1.01 (0.89–1.14)
177 obs / 176.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.67 (0.33–1.50)
0≤0.351.4
Missense OE1.01 (0.89–1.14)
0≤0.61.4
Synonymous OE1.12
0≤1.21.6
LoF obs/exp: 4 / 5.9Missense obs/exp: 177 / 176.0Syn Z: -0.83
DN
0.87top 5%
GOF
0.86top 5%
LOF
0.1499th %ile

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.

DNprediction above median
GOFprediction above median

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

116 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic58
Likely Pathogenic2
VUS56
58
Pathogenic
2
Likely Pathogenic
56
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
58
0
58
Likely Pathogenic
0
0
2
0
2
VUS
0
48
8
0
56
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total048680116

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

OR8A1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients