ESRP1
Chr 8ARepithelial splicing regulatory protein 1
Also known as: DFNB109, RBM35A, RMB35A
ESRP1 encodes an mRNA splicing factor that regulates the formation of epithelial cell-specific isoforms and controls splicing of genes involved in inner ear development and auditory hair cell differentiation. Mutations cause autosomal recessive deafness (DFNB109). The gene is highly constrained against loss-of-function variants, suggesting that complete loss of function is likely pathogenic.
Limited evidence — not for standalone diagnostic reporting
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
ESRP1 · 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