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RPS28

Chr 19p13.2

ribosomal protein S28

Aliases:
S28, eS28
MANE:
ENST00000600659.3

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Haematological malignancies cancer susceptibility

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Haematological malignancies for rare disease

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Clefting

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Cytopenia - NOT Fanconi anaemia

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Deafness and congenital structural abnormalities

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Rare anaemia

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Cytopenias and congenital anaemias

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Limb disorders

Disease associations (Open Targets)

  • Blackfan-Diamond anemia

    0.67
  • Diamond-Blackfan anemia

    0.57
  • Duchenne muscular dystrophy

    0.50
  • acute myeloid leukemia with minimal differentiation

    0.46
  • influenza

    0.46
  • cystic fibrosis

    0.39
  • 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

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

Protein function (UniProt)

Small ribosomal subunit protein eS28

Component of the small ribosomal subunit (PubMed:23636399, PubMed:25901680, PubMed:25957688). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:25901680, PubMed:25957688). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797)

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.