OR8B12

Chr 11

olfactory receptor family 8 subfamily B member 12

Also known as: OR11-317

Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
1
Pubs (1 yr)
P/LP submissions
P/LP missense
1.30
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.30LOEUF
pLI 0.260
Z-score 1.24
OE 0.28 (0.101.30)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.20Z-score
OE missense 0.96 (0.841.09)
163 obs / 170.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.28 (0.101.30)
00.351.4
Missense OE?0.96 (0.841.09)
00.61.4
Synonymous OE?1.00
01.21.6
LoF obs/exp: 1 / 3.5Missense obs/exp: 163 / 170.5Syn Z: -0.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

OR8B12 · 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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