WSB2
Chr 12ARWD repeat and SOCS box containing 2
Also known as: LAGNS, SBA2
The protein functions as a substrate-recognition component of an E3 ubiquitin ligase complex that targets specific proteins for degradation through the ubiquitin-proteasome system. Mutations cause Luo-Agrawal neurodevelopmental syndrome, which follows an autosomal recessive inheritance pattern. The gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
WSB2 · 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