THAP4
Chr 2THAP domain containing 4
Also known as: CGI-36, Nb(III), PP238
The THAP4 protein is a heme-binding protein that acts as a peroxynitrite isomerase, converting peroxynitrite to nitrate and protecting against reactive nitrogen and oxygen species toxicity. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset typically in infancy or early childhood. The gene shows moderate constraint to loss-of-function variants (LOEUF 0.5), suggesting some intolerance to complete protein loss.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
231 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 | 92 | 0 | 92 |
Likely Pathogenic | 0 | 0 | 12 | 0 | 12 |
VUS | 0 | 80 | 21 | 0 | 101 |
Likely Benign | 0 | 6 | 0 | 1 | 7 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 86 | 125 | 1 | 212 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
THAP4 · 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