GFM2 (GTP dependent ribosome recycling factor mitochondrial 2)

2014-11-01  

Identity

HGNC
LOCATION
5q13.3
LOCUSID
ALIAS
EF-G2mt,EFG2,MRRF2,MST027,MSTP027,RRF,RRF2,RRF2mt,hEFG2,mEF-G 2
FUSION GENES

Other Information

Locus ID:

NCBI: 84340
MIM: 606544
HGNC: 29682
Ensembl: ENSG00000164347

Variants:

dbSNP: 84340
ClinVar: 84340
TCGA: ENSG00000164347
COSMIC: GFM2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164347ENST00000296805Q969S9
ENSG00000164347ENST00000296805A0A024RAK1
ENSG00000164347ENST00000345239Q969S9
ENSG00000164347ENST00000345239A0A024RAJ7
ENSG00000164347ENST00000427854Q969S9
ENSG00000164347ENST00000506778D6RF75
ENSG00000164347ENST00000509097D6RAL1
ENSG00000164347ENST00000509430Q969S9
ENSG00000164347ENST00000509430A0A024RAK1

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Mitochondrial translationREACTOMER-HSA-5368287
Mitochondrial translation terminationREACTOMER-HSA-5419276

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
260164102015Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita.8
260164102015Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita.8
227192652012Polymorphisms in the mitochondrial ribosome recycling factor EF-G2mt/MEF2 compromise cell respiratory function and increase atorvastatin toxicity.2
227192652012Polymorphisms in the mitochondrial ribosome recycling factor EF-G2mt/MEF2 compromise cell respiratory function and increase atorvastatin toxicity.2
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
197167932009EF-G2mt is an exclusive recycling factor in mammalian mitochondrial protein synthesis.48
197167932009EF-G2mt is an exclusive recycling factor in mammalian mitochondrial protein synthesis.48
187531472008The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2.66
187531472008The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2.66

Citation

Dessen P

GFM2 (GTP dependent ribosome recycling factor mitochondrial 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63755/new-content/tumors-explorer/