Gene
GFM2
GTP dependent ribosome recycling factor mitochondrial 2
- HGNC 29682(opens in a new tab)
- Ensembl gene ENSG00000164347(opens in a new tab)
- NCBI Gene 84340(opens in a new tab)
Summary
- Cytogenetic location
- 5q13.3
- Coordinates
- Chromosome 5: 74,721,206–74,767,117 (GRCh38)
- Exons
- 21 exons across 45.9 kb
- Protein
- 779 amino acids
- Also known as
- mtEFG2, EFG2, FLJ21661, EF-G2mt
- MANE Select transcript
- ENST00000296805.8NM_032380.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
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Primary Mitochondrial Disease
- Combined Oxidative Phosphorylation Deficiency
Disorders, usually caused by nuclear genes involved in mitochondrial protein production, that reduce several respiratory chain complexes at once and often cause severe multisystem disease in childhood.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Knowing can end a diagnostic search and guide surveillance and supportive care.
Broader groupings
Leigh Syndrome
One of 69 genes linked to it
A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.
- ClinGen rates the link moderate
How GFM2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 3 kb of the gene's 45.9 kb; 2,340 of those bases code for the protein.
How a genome test reads GFM2
7
positions in GFM2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 45.9 kb of GFM2, introns included, not only the 3 kb of exons.
Traits linked to GFM2
The Human Phenotype Ontology lists these as features of the rare conditions GFM2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Degeneration of cerebellum
- Elevated brain lactate level by MRS
- Poor eye contact
- Reduced brain N-acetyl aspartate level by MRS
- Simplified gyral pattern
- Abnormal cerebral white matter morphology
- Abnormal corpus callosum morphology
- Abnormality of the cerebellum
Show 28 more traits
- Absent speech development
- Babinski sign
- Deep white matter hypodensities
- Degeneration of cerebrum
- Delayed speech and language development
- Hyperintensity of cerebral white matter on MRI
- Loss of ability to walk
- No social interaction
- Severe global developmental delay
- Small cerebellum
- Atrophy/Degeneration affecting the brainstem
- Corpus callosum atrophy
- Decreased nerve conduction velocity
- Difficulty articulating speech
- EEG abnormality
- Epilepsy
- Hypsarrhythmia
- Increased reflexes
- Involuntary movements
- Lateral ventricle dilatation
- Leg dystonia
- Toe walking
- Underdevelopment of part of brain called corpus callosum
- Fewer and broader ridges in brain
- Dystonia
- Global developmental delay
- Loss of developmental milestones
- Ventriculomegaly
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). GFM2 gene: GTP dependent ribosome recycling factor mitochondrial 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/gfm2
Dante Labs. GFM2 gene: GTP dependent ribosome recycling factor mitochondrial 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gfm2
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