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RPSA

Chr 3p22.1

ribosomal protein SA

Aliases:
LRP, 37LRP, p40, SA, uS2
MANE:
ENST00000301821.11

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

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

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Familial non syndromic congenital heart disease

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • familial isolated congenital asplenia

    0.76
  • Duchenne muscular dystrophy

    0.50
  • influenza

    0.46
  • cystic fibrosis

    0.39
  • dengue disease

    0.37
  • COVID-19

    0.37
  • severe acute respiratory syndrome

    0.37
  • neuromuscular disease caused by qualitative or quantitative defects of dystrophin

    0.32
  • Becker muscular dystrophy

    0.29
  • neurodegenerative disease

    0.13

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

Protein function (UniProt)

Small ribosomal subunit protein uS2B

Required for the assembly and/or stability of the 40S ribosomal subunit. Required for the processing of the 20S rRNA-precursor to mature 18S rRNA in a late step of the maturation of 40S ribosomal subunits. Also functions as a cell surface receptor for laminin. Plays a role in cell adhesion to the basement membrane and in the consequent activation of signaling transduction pathways. May play a role in cell fate determination and tissue morphogenesis. Also acts as a receptor for several other ligands, including the pathogenic prion protein, viruses, and bacteria. Acts as a PPP1R16B-dependent substrate of PPP1CA

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.