PSMG2
Chr 18ARproteasome assembly chaperone 2
Also known as: CLAST3, HCCA3, HsT1707, MDS003, PAC2, PRAAS4, TNFSF5IP1
The PSMG2 protein functions as a chaperone that promotes assembly of the 20S proteasome by forming a heterodimer with PSMG1, which binds to specific proteasome subunits and facilitates alpha ring formation while preventing premature dimerization. Autosomal recessive mutations cause proteasome-associated autoinflammatory syndrome 4, an inflammatory condition resulting from proteasome dysfunction. The gene shows relatively low constraint to loss-of-function variation (LOEUF 1.443), suggesting some tolerance to protein-truncating variants.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
461 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 | 1 | 1 | 85 | 1 | 88 |
Likely Pathogenic | 3 | 7 | 3 | 0 | 13 |
VUS | 15 | 195 | 22 | 1 | 233 |
Likely Benign | 0 | 5 | 33 | 44 | 82 |
Benign | 0 | 6 | 6 | 1 | 13 |
Conflicting | — | 3 | |||
| Total | 19 | 214 | 149 | 47 | 432 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PSMG2 · 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