OR5H6

Chr 3

olfactory receptor family 5 subfamily H member 6

Also known as: OR3-11

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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
1.86
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.86LOEUF
pLI 0.000
Z-score -0.23
OE 1.12 (0.561.86)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-2.07Z-score
OE missense 1.45 (1.311.62)
239 obs / 164.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.12 (0.561.86)
00.351.4
Missense OE?1.45 (1.311.62)
00.61.4
Synonymous OE?1.44
01.21.6
LoF obs/exp: 5 / 4.5Missense obs/exp: 239 / 164.3Syn Z: -2.70

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

OR5H6 · 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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