OR1E2

Chr 17

olfactory receptor family 1 subfamily E member 2

Also known as: OR17-135, OR17-136, OR17-93, OR1E4, OR1E7, OST529

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…
0
Active trials
1
Pubs (1 yr)
P/LP submissions
P/LP missense
1.43
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.43LOEUF
pLI 0.002
Z-score 0.78
OE 0.69 (0.361.43)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.29Z-score
OE missense 1.06 (0.941.20)
184 obs / 173.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.69 (0.361.43)
00.351.4
Missense OE?1.06 (0.941.20)
00.61.4
Synonymous OE?1.05
01.21.6
LoF obs/exp: 5 / 7.3Missense obs/exp: 184 / 173.1Syn Z: -0.30

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

OR1E2 · 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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