GFM2

Chr 5

GTP dependent ribosome recycling factor mitochondrial 2

Also known as: EF-G2mt, EFG2, MRRF2, MST027, MSTP027, RRF, RRF2, RRF2mt

Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors, which is a GTPase that plays a role at the termination of mitochondrial translation by mediating the disassembly of ribosomes from messenger RNA . Its role in the regulation of normal mitochondrial function and in disease states attributed to mitochondrial dysfunction is not known. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCombined oxidative phosphorylation deficiency 39

Clinical highlights

Gene-disease validity (ClinGen)
Leigh syndrome · ARModerateconsider for supplementary testing
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
1.04
LOEUF
DN
Mechanism· predicted
📖
GeneReview available — GFM2
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.04LOEUF
pLI 0.000
Z-score 1.35
OE 0.78 (0.591.04)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.80Z-score
OE missense 0.89 (0.810.97)
363 obs / 408.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.78 (0.591.04)
00.351.4
Missense OE?0.89 (0.810.97)
00.61.4
Synonymous OE?0.81
01.21.6
LoF obs/exp: 33 / 42.5Missense obs/exp: 363 / 408.3Syn Z: 1.77

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

GFM2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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