PSMG2

Chr 18AR

proteasome assembly chaperone 2

Also known as: CLAST3, HCCA3, HsT1707, MDS003, PAC2, PRAAS4, TNFSF5IP1

NCBI Gene: 56984 ENSG00000128789 UniProt: Q969U7 OMIM: 609702

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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Enables molecular adaptor activity. Involved in chaperone-mediated protein complex assembly and proteasome core complex assembly. Located in nucleus. Part of protein folding chaperone complex. Implicated in proteosome-associated autoinflammatory syndrome 4. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…