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RPL18

Chr 19q13.33

ribosomal protein L18

Aliases:
L18, eL18
MANE:
ENST00000549920.6

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Cytopenia - NOT Fanconi anaemia

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Rare anaemia

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

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • Blackfan-Diamond anemia

    0.54
  • Duchenne muscular dystrophy

    0.50
  • influenza

    0.46
  • Diamond-Blackfan anemia

    0.43
  • cystic fibrosis

    0.39
  • dengue disease

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

    0.32
  • Becker muscular dystrophy

    0.29
  • non-Hodgkin lymphoma

    0.10
  • aniridia

    0.10

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

Protein function (UniProt)

Large ribosomal subunit protein eL18

Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:25901680, PubMed:25957688, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:12962325, PubMed:23636399, PubMed:25901680, PubMed:25957688, PubMed:32669547)

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.