OR13C9

Chr 9

olfactory receptor family 13 subfamily C member 9

Also known as: OR37L, OR9-13

NCBI Gene: 286362ENSG00000136839UniProt: Q8NGT0

This gene encodes an olfactory receptor that recognizes odorant molecules and initiates G protein-mediated signal transduction for smell perception. No disease associations have been established for OR13C9 mutations, and the gene shows tolerance to loss-of-function variants based on population genetics data.

ResearchSummary from RefSeq, UniProt, Mechanism
MultiplemechanismLOEUF 1.47
Clinical Summary— OR13C9
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.02) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
36 unique Pathogenic / Likely Pathogenic· 38 VUS of 77 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
1.47LOEUF
pLI 0.021
Z-score 0.87
OE 0.59 (0.27–1.47)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.16Z-score
OE missense 1.03 (0.91–1.17)
172 obs / 166.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.59 (0.27–1.47)
0≤0.351.4
Missense OE1.03 (0.91–1.17)
0≤0.61.4
Synonymous OE1.28
0≤1.21.6
LoF obs/exp: 3 / 5.1Missense obs/exp: 172 / 166.3Syn Z: -1.72
DN
0.87top 5%
GOF
0.86top 5%
LOF
0.1499th %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

77 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic34
Likely Pathogenic2
VUS38
Likely Benign3
34
Pathogenic
2
Likely Pathogenic
38
VUS
3
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
34
0
34
Likely Pathogenic
0
0
2
0
2
VUS
0
31
7
0
38
Likely Benign
0
2
1
0
3
Benign
0
0
0
0
0
Total03344077

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

View in ClinVar →

Protein Context — Lollipop Plot

OR13C9 · 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 ↗
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