OR2J3

Chr 6AD

olfactory receptor family 2 subfamily J member 3

Also known as: 6M1-3, C3HEXS, HS6M1-3, OR6-16, OR6-6, OR6.3.6, ORL671

This gene encodes a G-protein-coupled receptor (GPCR) that functions as an olfactory receptor. Olfactory receptors interact with odorant molecules in the nose to initiate a neuronal response that triggers the perception of a smell. The protein encoded by this gene responds to cis-3-hexen-1-ol, which is released by wounded plants, including cut grass. This gene is situated in a cluster of similar olfactory-receptor coding genes on chromosome 6. [provided by RefSeq, May 2013]

Primary Disease Associations & Inheritance

[C3HEX, ability to smell]MIM #615082
AD
0
Active trials
0
Pathogenic / LP
0
ClinVar variants
0
Pubs (1 yr)
0.2
Missense Z
1.25
LOEUF
Clinical SummaryOR2J3
Population Constraint (gnomAD)
Low constraint (pLI 0.01) — 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
1.25LOEUF
pLI 0.010
Z-score 1.14
OE 0.55 (0.271.25)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.20Z-score
OE missense 0.96 (0.841.09)
154 obs / 161.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.55 (0.271.25)
00.351.4
Missense OE0.96 (0.841.09)
00.61.4
Synonymous OE1.05
01.21.6
LoF obs/exp: 4 / 7.3Missense obs/exp: 154 / 161.2Syn Z: -0.34
GOFDN
DN
0.86top 5%
GOF
0.86top 5%
LOF
0.1399th %ile

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.

GOFprediction above median
DNprediction 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

OR2J3 · 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.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
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