OR13C4

Chr 9

olfactory receptor family 13 subfamily C member 4

Also known as: HSHTPCRX17, HTPCRX17, OR2K1, OR37F, OR9-7

NCBI Gene: 138804ENSG00000148136UniProt: Q8NGS5

The OR13C4 protein is an olfactory receptor that recognizes specific odorant molecules and initiates G protein-mediated signaling to trigger smell perception. This gene is not constrained against loss-of-function variants and currently has no established disease associations in pediatric neurogenetics. Mutations in olfactory receptor genes typically affect smell perception rather than causing neurological disorders.

ResearchSummary from RefSeq, UniProt
MultiplemechanismLOEUF 1.93
Clinical Summary— OR13C4
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
36 unique Pathogenic / Likely Pathogenic· 58 VUS of 97 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
1.93LOEUF
pLI 0.000
Z-score -1.22
OE 1.51 (0.89–1.93)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.12Z-score
OE missense 0.97 (0.86–1.11)
163 obs / 167.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE1.51 (0.89–1.93)
0≤0.351.4
Missense OE0.97 (0.86–1.11)
0≤0.61.4
Synonymous OE1.12
0≤1.21.6
LoF obs/exp: 10 / 6.6Missense obs/exp: 163 / 167.4Syn Z: -0.73
DN
0.84top 10%
GOF
0.81top 10%
LOF
0.1993th %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

97 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic34
Likely Pathogenic2
VUS58
Likely Benign3
34
Pathogenic
2
Likely Pathogenic
58
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
51
7
0
58
Likely Benign
0
2
1
0
3
Benign
0
0
0
0
0
Total05344097

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

View in ClinVar →

Protein Context — Lollipop Plot

OR13C4 · 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 →

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