OR2M7

Chr 1

olfactory receptor family 2 subfamily M member 7

Also known as: OR1-58

NCBI Gene: 391196ENSG00000177186UniProt: Q8NG81

The OR2M7 protein is an olfactory receptor that binds odorant molecules and initiates G-protein-coupled signaling to trigger smell perception. Gain-of-function mutations in OR2M7 are predicted to cause disease, though specific clinical phenotypes and inheritance patterns have not been established. The pathogenic mechanism involves altered odorant recognition and signal transduction in olfactory neurons.

Summary from RefSeq, UniProt, Mechanism
Research Assistant →
0
Active trials
0
Pubs (1 yr)
69
P/LP submissions
0%
P/LP missense
—
LOEUF
Multiple*
Mechanism· predicted
Clinical Summary— OR2M7
📋
ClinVar Variants
69 unique Pathogenic / Likely Pathogenic· 80 VUS of 166 total submissions
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Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

DN
0.85top 10%
GOF
0.87top 5%
LOF
0.1698th %ile

This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

GOFprediction above median
DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

166 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic63
Likely Pathogenic6
VUS80
Likely Benign8
Benign9
63
Pathogenic
6
Likely Pathogenic
80
VUS
8
Likely Benign
9
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
63
0
63
Likely Pathogenic
0
0
6
0
6
VUS
0
64
16
0
80
Likely Benign
0
4
4
0
8
Benign
0
0
9
0
9
Total068980166

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

OR2M7 · 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