RNF20
Chr 9ring finger protein 20
Also known as: BRE1, BRE1A, hBRE1
The protein functions as an E3 ubiquitin ligase that monoubiquitinates histone H2B at lysine 120, which is essential for transcriptional activation and prerequisite for histone H3 methylation, thereby playing a central role in epigenetic gene regulation and chromatin structure. Biallelic mutations in RNF20 cause a neurodevelopmental disorder with intellectual disability and developmental delay, following an autosomal recessive inheritance pattern. The pathogenic mechanism involves disruption of the histone code and transcriptional regulation, particularly affecting genes critical for normal neurodevelopment.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is dominant-negative.
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
RNF20 · 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