KANSL3
Chr 2KAT8 regulatory NSL complex subunit 3
Also known as: KIAA1310, NSL3, Rcd1
The KANSL3 protein is a component of the NSL histone acetyltransferase complex that regulates gene transcription in both the nucleus and mitochondria, promotes cilium assembly and microtubule organization, and is essential for spindle assembly during cell division. Mutations cause autosomal dominant developmental disorders affecting multiple systems including neurological development. This gene is highly constrained against loss-of-function variants in the population, indicating that such mutations are likely to cause severe disease.
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
KANSL3 · 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