ZNF263
Chr 16zinc finger protein 263
Also known as: FPM315, ZKSCAN12, ZSCAN44
ZNF263 encodes a transcription factor that binds to specific DNA sequences and regulates gene expression by both repressing and activating transcription of target genes including SIX3, HS3ST1, and HS3ST3A1. The gene is extremely intolerant to loss-of-function variants (pLI ~1.0), indicating that haploinsufficiency is likely not tolerated in humans. Pathogenic variants in ZNF263 cause autosomal dominant neurodevelopmental disorders with intellectual disability and developmental delay.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ZNF263 · 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 →External Resources
Links to major genomics databases and tools