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PSMB9

Chr 6p21.32

proteasome 20S subunit beta 9

Aliases:
RING12, beta1i, PSMB6i
MANE:
ENST00000374859.3

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Autoinflammatory disorders

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Childhood interstitial lung disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • COVID-19 research

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • plasma cell myeloma

    0.61
  • MHC class I deficiency

    0.57
  • proteasome-associated autoinflammatory syndrome 6

    0.56
  • mantle cell lymphoma

    0.54
  • proteasome-associated autoinflammatory syndrome 3

    0.51
  • neoplasm

    0.50
  • amyloidosis

    0.47
  • Immunodeficiency by defective expression of HLA class 1

    0.46
  • AL amyloidosis

    0.38
  • acute lymphoblastic leukemia

    0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Proteasome subunit beta type-9

The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH (PubMed:33727065, PubMed:34819510). The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides. Replacement of PSMB6 by PSMB9 increases the capacity of the immunoproteasome to cleave model peptides after hydrophobic and basic residues

Curated MONDO disease pages that list PSMB9 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.