PSMG3

Chr 7

proteasome assembly chaperone 3

Also known as: C7orf48, PAC3, Pba3

NCBI Gene: 84262ENSG00000157778UniProt: Q9BT73

Enables molecular adaptor activity. Involved in chaperone-mediated protein complex assembly. Predicted to be located in cytosol. Predicted to be part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.53
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.53LOEUF
pLI 0.200
Z-score 0.99
OE 0.36 (0.13–1.53)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.52Z-score
OE missense 0.83 (0.68–1.03)
63 obs / 75.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.36 (0.13–1.53)
0≤0.351.4
Missense OE?0.83 (0.68–1.03)
0≤0.61.4
Synonymous OE?1.13
0≤1.21.6
LoF obs/exp: 1 / 2.8Missense obs/exp: 63 / 75.7Syn Z: -0.60

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PSMG3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients