OR9K2

Chr 12

olfactory receptor family 9 subfamily K member 2

ENSG00000170605UniProt: Q8NGE7

Odorant receptor

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.94
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (2)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.94LOEUF
pLI 0.000
Z-score -1.13
OE 1.54 (0.84–1.94)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.31Z-score
OE missense 1.28 (1.15–1.43)
225 obs / 176.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.54 (0.84–1.94)
0≤0.351.4
Missense OE?1.28 (1.15–1.43)
0≤0.61.4
Synonymous OE?1.13
0≤1.21.6
LoF obs/exp: 8 / 5.2Missense obs/exp: 225 / 176.0Syn Z: -0.80

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

OR9K2 · 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