SPSB3
Chr 16splA/ryanodine receptor domain and SOCS box containing 3
Also known as: C16orf31, SSB3
SPSB3 encodes a substrate-recognition component of a cullin-5-RING E3 ubiquitin ligase complex that targets specific proteins for degradation, including nuclear cGAS and phosphorylated SNAI1. The gene is constrained against loss-of-function variants (LOEUF 0.71), but no Mendelian diseases have been definitively associated with SPSB3 mutations to date. Further research is needed to establish any clinical phenotypes and inheritance patterns associated with pathogenic variants in this gene.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SPSB3 · 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