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MRPS2

Chr 9q34.3

mitochondrial ribosomal protein S2

Aliases:
CGI-91, uS2m
MANE:
ENST00000241600.10

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Likely inborn error of metabolism

    BIALLELIC, autosomal or pseudoautosomal
  • Mitochondrial disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Possible mitochondrial disorder - nuclear genes

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • combined oxidative phosphorylation deficiency 36

    0.73
  • mitochondrial disease

    0.19
  • inborn mitochondrial metabolism disorder

    0.19
  • Isolated anophthalmia - microphthalmia

    0.08
  • nanophthalmia

    0.07
  • microphthalmia, isolated, with coloboma

    0.06
  • microphthalmia

    0.06
  • isolated microphthalmia 7

    0.06
  • Microphthalmia - cataract

    0.05
  • liver disorder

    0.05

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

Protein function (UniProt)

Small ribosomal subunit protein uS2m

Required for mitoribosome formation and stability, and mitochondrial translation

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.