SMARCA5
Chr 4SNF2 related chromatin remodeling ATPase 5
Also known as: ISWI, SNF2H, WCRF135, hISWI, hSNF2H
SMARCA5 encodes an ATPase that catalyzes chromatin remodeling by sliding nucleosomes along DNA to facilitate transcription, DNA replication, and repair processes. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability, developmental delay, and various neurological features. The gene is extremely intolerant to loss-of-function variants (pLI ~1.0, LOEUF 0.074), indicating that even mild reductions in protein function can cause disease.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Extremely missense-constrained (top ~0.01%)
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
SMARCA5 · 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