USH2A
Chr 1ARusherin
Also known as: RP39, US2, USH2, dJ1111A8.1
The USH2A protein is a basement membrane component containing laminin, pentaxin, and fibronectin domains that maintains hair bundle ankle formation in cochlear hair cells and the periciliary membrane complex in retinal photoreceptors. Mutations cause autosomal recessive Usher syndrome type 2A (progressive hearing loss with retinitis pigmentosa) and isolated retinitis pigmentosa 39. The gene shows very low constraint against loss-of-function variants, consistent with its recessive inheritance pattern where heterozygous carriers are typically unaffected.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
USH2A · 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
Inherited Retinal Diseases: Natural History and Genotype-Phenotype Correlations
NOT YET RECRUITINGStudy to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
RECRUITINGExternal Resources
Links to major genomics databases and tools