OVOL2
Chr 20ADovo like zinc finger 2
Also known as: CHED, CHED1, CHED2, EUROIMAGE566589, PPCD1, ZNF339
OVOL2 encodes a zinc-finger transcription repressor that maintains epithelial cell identity by suppressing epithelial-to-mesenchymal transition and regulates neuronal differentiation, keratinocyte cycling, and adipose tissue development. Mutations cause posterior polymorphous corneal dystrophy type 1, an autosomal dominant condition affecting corneal endothelial cells. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.567), suggesting some tolerance to haploinsufficiency.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
92 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 27 | 0 | 27 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 36 | 8 | 0 | 44 |
Likely Benign | 0 | 2 | 1 | 6 | 9 |
Benign | 0 | 2 | 4 | 1 | 7 |
| Total | 0 | 40 | 40 | 7 | 87 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
OVOL2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools