OC90

Chr 8

otoconin 90

Also known as: PLA2L

NCBI Gene: 729330ENSG00000253117UniProt: Q02509OMIM: 601658

Predicted to enable calcium ion binding activity; calcium-dependent phospholipase A2 activity; and phospholipid binding activity. Predicted to be involved in otolith mineralization; phosphatidylcholine metabolic process; and phosphatidylglycerol metabolic process. Predicted to be located in extracellular region. Predicted to be active in extracellular matrix. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
LOEUF 1.27
Clinical Summary— OC90
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.27LOEUF
pLI 0.000
Z-score 0.57
OE 0.87 (0.60–1.27)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.01Z-score
OE missense 1.18 (1.07–1.30)
301 obs / 255.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.87 (0.60–1.27)
0≤0.351.4
Missense OE?1.18 (1.07–1.30)
0≤0.61.4
Synonymous OE?1.28
0≤1.21.6
LoF obs/exp: 19 / 21.9Missense obs/exp: 301 / 255.5Syn Z: -2.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

OC90 · 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.

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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