OR6C4

Chr 12

olfactory receptor family 6 subfamily C member 4

Also known as: OR12-10

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
1.96
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?
1.96LOEUF
pLI 0.000
Z-score -1.80
OE 1.83 (1.011.96)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.67Z-score
OE missense 1.37 (1.231.53)
218 obs / 158.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.83 (1.011.96)
00.351.4
Missense OE?1.37 (1.231.53)
00.61.4
Synonymous OE?1.22
01.21.6
LoF obs/exp: 10 / 5.5Missense obs/exp: 218 / 158.9Syn Z: -1.33

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

OR6C4 · 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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