GFM2 (GTP dependent ribosome recycling factor mitochondrial 2)

2014-11-01  

Identity

HGNC
GFM2
LOCATION
5q13.3
LOCUSID
84340
ALIAS
EF-G2mt,EFG2,MRRF2,MST027,MSTP027,RRF,RRF2,RRF2mt,hEFG2,mEF-G 2
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
187531472008The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2.42
197167932009EF-G2mt is an exclusive recycling factor in mammalian mitochondrial protein synthesis.33
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
260164102015Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita.3
227192652012Polymorphisms in the mitochondrial ribosome recycling factor EF-G2mt/MEF2 compromise cell respiratory function and increase atorvastatin toxicity.2

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/gfm2