OR8G5

Chr 11

olfactory receptor family 8 subfamily G member 5

Also known as: OR11-298, OR8G5P, OR8G6

OR8G5 encodes an olfactory receptor that detects odorant molecules in the nose and initiates G protein-coupled signaling to trigger smell perception. This gene is not currently associated with any known human genetic diseases. The gene shows low constraint to loss-of-function variation, consistent with the redundancy typical of the large olfactory receptor gene family.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
0
Pubs (1 yr)
0
P/LP submissions
P/LP missense
1.56
LOEUF
Multiple*
Mechanism· predicted
Clinical SummaryOR8G5
Population Constraint (gnomAD)
Low constraint (pLI 0.02) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.56LOEUF
pLI 0.017
Z-score 0.74
OE 0.63 (0.291.56)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.54Z-score
OE missense 1.11 (0.991.25)
197 obs / 176.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.63 (0.291.56)
00.351.4
Missense OE1.11 (0.991.25)
00.61.4
Synonymous OE1.32
01.21.6
LoF obs/exp: 3 / 4.7Missense obs/exp: 197 / 176.8Syn Z: -2.11
DN
0.89top 5%
GOF
0.88top 5%
LOF
0.1399th %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

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

OR8G5 · 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

No active trials found for this gene.

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Clinical Literature
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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