OR5H14

Chr 3

olfactory receptor family 5 subfamily H member 14

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
1.94
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?
1.94LOEUF
pLI 0.000
Z-score -1.24
OE 1.60 (0.871.94)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.90Z-score
OE missense 1.43 (1.281.60)
220 obs / 153.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.60 (0.871.94)
00.351.4
Missense OE?1.43 (1.281.60)
00.61.4
Synonymous OE?1.69
01.21.6
LoF obs/exp: 8 / 5.0Missense obs/exp: 220 / 153.6Syn Z: -4.07

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

OR5H14 · 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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