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RPS26

Chr 12q13.2

ribosomal protein S26

Aliases:
S26, eS26
MANE:
ENST00000646449.2

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Clefting

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

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Cytopenias and congenital anaemias

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • DDG2P

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

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Haematological malignancies cancer susceptibility

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

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

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

  • Blackfan-Diamond anemia

    0.83
  • Diamond-Blackfan anemia

    0.76
  • inherited bone marrow failure syndrome

    0.50
  • Duchenne muscular dystrophy

    0.50
  • influenza

    0.46
  • acute myeloid leukemia with minimal differentiation

    0.46
  • asthma

    0.44
  • type 1 diabetes mellitus

    0.40
  • COVID-19

    0.39
  • cystic fibrosis

    0.39

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

Protein function (UniProt)

Small ribosomal subunit protein eS26

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)

Curated MONDO disease pages that list RPS26 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.