ILDR1
Chr 3ARimmunoglobulin like domain containing receptor 1
Also known as: DFNB42, ILDR1alpha, ILDR1alpha', ILDR1beta
The ILDR1 protein maintains epithelial barrier function by recruiting tricellulin to tricellular tight junctions and is crucial for preserving the structural integrity of these junctions in auditory hair cells. Mutations cause autosomal recessive deafness (DFNB42), affecting hearing through disruption of inner ear epithelial barriers. The gene shows minimal constraint against loss-of-function variants (very low pLI score), consistent with its recessive inheritance pattern.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
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
ILDR1 · 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