OR2H1

Chr 6

olfactory receptor family 2 subfamily H member 1

Also known as: 6M1-16, HS6M1-16, OLFR42A-9004-14, OLFR42A-9004.14/9026.2, OR2H6, OR2H8, OR6-2, dJ994E9.4

NCBI Gene: 26716ENSG00000204688UniProt: Q9GZK4

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…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.74
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

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.74LOEUF
pLI 0.535
Z-score 1.98
OE 0.16 (0.05–0.74)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint?
-0.46Z-score
OE missense 1.10 (0.97–1.25)
173 obs / 156.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.16 (0.05–0.74)
0≤0.351.4
Missense OE?1.10 (0.97–1.25)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 1 / 6.4Missense obs/exp: 173 / 156.9Syn Z: 0.71

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

OR2H1 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients