CRB2
Chr 9ARcrumbs cell polarity complex component 2
Also known as: FSGS9, VMCKD
The protein is an apical polarity component of the Crumbs complex that regulates epithelial-to-mesenchymal transition during gastrulation and maintains retinal neuroepithelium organization and cortical development. Autosomal recessive mutations cause focal segmental glomerulosclerosis 9 and ventriculomegaly with cystic kidney disease, affecting the kidney, brain ventricular system, and potentially retinal development. The gene shows very low constraint against loss-of-function variants.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
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
CRB2 · 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