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PSMG2

Chr 18p11.21

proteasome assembly chaperone 2

Aliases:
HCCA3, MDS003, MGC15092, CLAST3, HsT1707
MANE:
ENST00000317615.11

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • proteasome-associated autoinflammatory syndrome 4

    0.51
  • Joubert syndrome 1

    0.48
  • retinitis pigmentosa

    0.36
  • Bardet-Biedl syndrome 1

    0.33
  • Short stature

    0.30
  • hypothyroidism

    0.13
  • inflammatory bowel disease

    0.12
  • type 1 diabetes mellitus

    0.12
  • Crohn disease

    0.11
  • myxedema

    0.10

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

Protein function (UniProt)

Proteasome assembly chaperone 2

Chaperone protein which promotes assembly of the 20S proteasome as part of a heterodimer with PSMG1. The PSMG1-PSMG2 heterodimer binds to the PSMA5 and PSMA7 proteasome subunits, promotes assembly of the proteasome alpha subunits into the heteroheptameric alpha ring and prevents alpha ring dimerization

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.