PSMB2
Chr 1proteasome 20S subunit beta 2
The PSMB2 protein is a non-catalytic beta subunit of the 20S core proteasome complex that degrades intracellular proteins to maintain cellular protein homeostasis and generate MHC class I antigenic peptides. Mutations cause autosomal recessive proteasome-associated autoinflammatory syndrome, characterized by early-onset immunodeficiency, autoinflammation, and dermatitis. This gene is highly constrained against loss-of-function variants, indicating its essential cellular role.
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PSMB2 · 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