OR6C2

Chr 12

olfactory receptor family 6 subfamily C member 2

Also known as: OR6C67

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
1.32
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?
1.32LOEUF
pLI 0.092
Z-score 1.14
OE 0.43 (0.171.32)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.23Z-score
OE missense 1.28 (1.141.44)
200 obs / 156.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.43 (0.171.32)
00.351.4
Missense OE?1.28 (1.141.44)
00.61.4
Synonymous OE?1.19
01.21.6
LoF obs/exp: 2 / 4.7Missense obs/exp: 200 / 156.6Syn Z: -1.13

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

OR6C2 · 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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