OR1E2

Chr 17

olfactory receptor family 1 subfamily E member 2

Also known as: OR17-135, OR17-136, OR17-93, OR1E4, OR1E7, OST529

NCBI Gene: 8388ENSG00000127780UniProt: P47887

This gene encodes an olfactory receptor that recognizes and transduces odorant signals through G-protein-coupled receptor signaling in the nasal epithelium. Currently, no specific pediatric neurological diseases have been definitively associated with OR1E2 mutations. The gene shows low constraint to loss-of-function variation (pLI 0.0016, LOEUF 1.43), consistent with the functional redundancy typical of the large olfactory receptor gene family.

ResearchSummary from RefSeq, UniProt
MultiplemechanismLOEUF 1.43
Clinical Summary— OR1E2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
39 unique Pathogenic / Likely Pathogenic· 67 VUS of 112 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.43LOEUF
pLI 0.002
Z-score 0.78
OE 0.69 (0.36–1.43)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.29Z-score
OE missense 1.06 (0.94–1.20)
184 obs / 173.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.69 (0.36–1.43)
0≤0.351.4
Missense OE1.06 (0.94–1.20)
0≤0.61.4
Synonymous OE1.05
0≤1.21.6
LoF obs/exp: 5 / 7.3Missense obs/exp: 184 / 173.1Syn Z: -0.30
DN
0.90top 5%
GOF
0.88top 5%
LOF
0.12100th %ile

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

DNprediction above median
GOFprediction 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

112 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic37
Likely Pathogenic2
VUS67
Likely Benign5
Benign1
37
Pathogenic
2
Likely Pathogenic
67
VUS
5
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
37
0
37
Likely Pathogenic
0
0
2
0
2
VUS
0
53
14
0
67
Likely Benign
0
2
2
1
5
Benign
0
0
1
0
1
Total055561112

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

View in ClinVar →

Protein Context — Lollipop Plot

OR1E2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

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