RBP3
Chr 10ARretinol binding protein 3
Also known as: D10S64, D10S65, D10S66, IRBP, RBPI, RP66
Interphotoreceptor retinol-binding protein shuttles 11-cis and all-trans retinoids between the retinal pigment epithelium and photoreceptor cells, playing a critical role in the visual cycle. Mutations cause retinitis pigmentosa 66, inherited in an autosomal recessive pattern. The gene is highly intolerant to loss-of-function variants (pLI near 1.0, LOEUF 0.647), indicating strong evolutionary constraint.
Primary Disease Associations & Inheritance
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
400 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 5 | 0 | 11 | 0 | 16 |
Likely Pathogenic | 1 | 1 | 3 | 1 | 6 |
VUS | 2 | 240 | 10 | 5 | 257 |
Likely Benign | 0 | 5 | 5 | 108 | 118 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 2 | |||
| Total | 8 | 246 | 29 | 114 | 399 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RBP3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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