ONECUT2
Chr 18one cut homeobox 2
Also known as: OC-2, OC2
The protein is a transcription factor that binds specific DNA sequences and activates expression of target genes involved in liver development and melanocyte differentiation. Mutations cause autosomal dominant or recessive neurodevelopmental disorders with intellectual disability, often accompanied by seizures and brain malformations. The gene is highly constrained against loss-of-function variants, indicating intolerance to protein disruption.
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. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
151 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 | 62 | 0 | 62 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 72 | 5 | 0 | 77 |
Likely Benign | 0 | 1 | 0 | 3 | 4 |
Benign | 0 | 0 | 0 | 2 | 2 |
| Total | 0 | 73 | 69 | 5 | 147 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ONECUT2 · 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