ZNF541
Chr 19zinc finger protein 541
ZNF541 encodes a transcription regulator that is essential for male fertility by controlling gene expression during meiosis in spermatocytes, specifically regulating progression through the pachytene stage and suppressing aberrant DNA double-strand break formation. This gene is extremely intolerant to loss-of-function mutations (pLI ~1.0, LOEUF 0.155), but no human diseases have been definitively associated with ZNF541 mutations to date. Given its critical role in male meiosis and high constraint scores, mutations would likely cause male infertility with autosomal dominant or recessive inheritance patterns.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ZNF541 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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 →No open access results found
External Resources
Links to major genomics databases and tools