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GFM2

Chr 5q13.3

GTP dependent ribosome recycling factor mitochondrial 2

Aliases:
EFG2, FLJ21661, EF-G2mt
MANE:
ENST00000296805.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Likely inborn error of metabolism

    BIALLELIC, autosomal or pseudoautosomal
  • Mitochondrial disorders

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

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Arthrogryposis

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • combined oxidative phosphorylation deficiency

    0.73
  • mitochondrial disease

    0.46
  • Leigh syndrome

    0.22
  • hereditary disease

    0.19
  • Alzheimer disease

    0.19
  • neurodegenerative disease

    0.19
  • Parkinson disease

    0.19
  • multiple sclerosis

    0.19
  • lysosomal storage disease

    0.19
  • Sandhoff disease

    0.17

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

Protein function (UniProt)

Ribosome-releasing factor 2, mitochondrial

Mitochondrial GTPase that mediates the disassembly of ribosomes from messenger RNA at the termination of mitochondrial protein biosynthesis (PubMed:19716793, PubMed:33878294). Acts in collaboration with MRRF (PubMed:19716793, PubMed:33878294). Promotes mitochondrial ribosome recycling by dissolution of intersubunit contacts (PubMed:33878294). GTP hydrolysis follows the ribosome disassembly and probably occurs on the ribosome large subunit (PubMed:19716793). Not involved in the GTP-dependent ribosomal translocation step during translation elongation (PubMed:19716793)

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.