OR2AP1

Chr 12

olfactory receptor family 2 subfamily AP member 1

Also known as: OR2AP1P

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
0
Pubs (1 yr)
P/LP submissions
P/LP missense
1.91
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.91LOEUF
pLI 0.000
Z-score -0.67
OE 1.34 (0.691.91)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.16Z-score
OE missense 1.26 (1.121.43)
192 obs / 151.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.34 (0.691.91)
00.351.4
Missense OE?1.26 (1.121.43)
00.61.4
Synonymous OE?1.13
01.21.6
LoF obs/exp: 6 / 4.5Missense obs/exp: 192 / 151.8Syn Z: -0.81

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

OR2AP1 · 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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