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RPL36

Chr 19p13.3

ribosomal protein L36

Aliases:
DKFZp566B023, L36, eL36
MANE:
ENST00000347512.8

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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

Disease associations (Open Targets)

  • Duchenne muscular dystrophy

    0.50
  • Diamond-Blackfan anemia

    0.46
  • Blackfan-Diamond anemia

    0.46
  • influenza

    0.46
  • acute myeloid leukemia with minimal differentiation

    0.46
  • combined oxidative phosphorylation deficiency

    0.46
  • cystic fibrosis

    0.39
  • neuromuscular disease caused by qualitative or quantitative defects of dystrophin

    0.32
  • hereditary disease

    0.31
  • Becker muscular dystrophy

    0.29

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

Protein function (UniProt)

RPL36 alternative reading frame protein

Inhibits C2CD2L/TMEM24-dependent transport of phosphatidylinositol, the precursor of phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2), from its site of synthesis in the endoplasmic reticulum to the cell membrane (PubMed:33479206). This leads to down-regulation of the PI3K-AKT-mTOR signaling pathway (PubMed:33479206)

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.