PSMB9

Chr 6

proteasome 20S subunit beta 9

Also known as: LMP2, PRAAS3, PRAAS6, PSMB6i, RING12, beta1i

The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 1 (proteasome beta 6 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. [provided by RefSeq, Mar 2010]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtProteasome-associated autoinflammatory syndrome 3
UniProtProteasome-associated autoinflammatory syndrome 6
0
Active trials
56
Pubs (1 yr)
P/LP submissions
P/LP missense
0.95
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.95LOEUF
pLI 0.003
Z-score 1.68
OE 0.48 (0.260.95)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.93Z-score
OE missense 0.77 (0.660.91)
103 obs / 133.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.48 (0.260.95)
00.351.4
Missense OE?0.77 (0.660.91)
00.61.4
Synonymous OE?0.67
01.21.6
LoF obs/exp: 6 / 12.4Missense obs/exp: 103 / 133.4Syn Z: 1.89

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PSMB9 · 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

No active trials found for this gene.

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