OR8J3

Chr 11

olfactory receptor family 8 subfamily J member 3

Also known as: OR11-173

NCBI Gene: 81168 ENSG00000167822 UniProt: Q8NGG0

Predicted to enable G protein-coupled receptor activity and olfactory receptor activity. Predicted to be involved in G protein-coupled receptor signaling pathway and detection of chemical stimulus involved in sensory perception of smell. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.92

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.92LOEUF

pLI 0.072

Z-score -0.54

OE 1.77 (0.33–1.92)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.62Z-score

OE missense 1.13 (1.01–1.28)

193 obs / 170.3 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.77 (0.33–1.92)

0≤0.351.4

Missense OE?1.13 (1.01–1.28)

0≤0.61.4

Synonymous OE?1.32

0≤1.21.6

LoF obs/exp: 1 / 0.6Missense obs/exp: 193 / 170.3Syn Z: -2.05

Background carrier burden — how many people carry a rare variant somewhere in OR8J3?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 140

447 rare PASS variants

Rare truncating (LoF)

1 in 2,700

51 rare PASS variants

Rare synonymous (reference)

1 in 220

180 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for OR8J3. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 210	1 in 4,500
South Asian	~43k	1 in 84	1 in 780
Remaining (unassigned)	~30k	1 in 130	1 in 3,000
European (Finnish)	~27k	1 in 580	1 in 740
Admixed American	~22k	1 in 110	1 in 1,200
African / African American	~21k	1 in 170	1 in 2,500
East Asian	~20k	1 in 230	≈ 1 in 20,000
Ashkenazi Jewish	~13k	1 in 650	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 220	1 in 480

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓