GFM2 - GTP dependent ribosome recycling factor mitochondrial 2 Gene

Also Known as RRF; EFG2; RRF2; MRRF2; hEFG2; MST027; RRF2mt; EF-G2mt; MSTP027; mEF-G 2

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 84340

About GFM2

Cytogenetic location: 5q13.3 Genomic coordinates (GRCh38): 5:74,721,206-74,767,117 (from NCBI)

This gene has 10 transcripts (splice variants), 198 orthologues, 18 paralogues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 9.4), testis (RPKM 9.2) and 25 other tissues.

Summary

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]

GFM2 Products (4)

mRNA Protein Name
NM_001281302.2 NP_001268231.1 ribosome-releasing factor 2, mitochondrial isoform 4
NM_032380.5 NP_115756.2 ribosome-releasing factor 2, mitochondrial isoform 1
NM_170681.3 NP_733781.1 ribosome-releasing factor 2, mitochondrial isoform 3
NM_170691.3 NP_733792.1 ribosome-releasing factor 2, mitochondrial isoform 2

GFM2 Protein Structure

GTP_EFTU

GTP_EFTU: Elongation factor Tu GTP binding domain (69 - 351)

GTP_EFTU_D2

GTP_EFTU_D2: Elongation factor Tu domain 2 (381 - 447)

EFG_II

EFG_II: Elongation Factor G, domain II (485 - 558)

EFG_IV

EFG_IV: Elongation factor G, domain IV (561 - 682)

EFG_C

EFG_C: Elongation factor G C-terminus (685 - 769)

  • 0
  • 200
  • 400
  • 600
  • 779 a.a.
Protein Preferred Names Protein Names

ribosome-releasing factor 2, mitochondrial

  • G elongation factor mitochondrial 2

GFM2 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
GFM2 Q969S9 VPS52 Homo sapiens Q8N1B4 25416956
Intra
GFM2 Q969S9 VPS52 Homo sapiens Q8N1B4 25416956
Intra
GFM2 Q969S9 VPS52 Homo sapiens Q8N1B4 25416956
Intra
GFM2 Q969S9 TRIM27 Homo sapiens P14373 25416956
Intra
GFM2 Q969S9 TRIM9 Homo sapiens Q9C026 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases Alias
Combined Oxidative Phosphorylation Deficiency 39
  • COXPD39

  • Combined Oxidative Phosphorylation Defect Type 39

  • Gfm2-Related Combined Oxidative Phosphorylation Defect

Mitochondrial Disease
  • Mitochondrial Diseases

  • Mitochondrial Disorder

Combined Oxidative Phosphorylation Deficiency 3
  • Fatal Mitochondrial Disease Due To Combined Oxidative Phosphorylation Defect Type 3

  • COXPD3

  • Encephalomyopathy, Respiratory Failure, And Lactic Acidosis

  • Concentric Cardiomyopathy, Hypotonia, And Lactic Acidosis

  • Fatal Mitochondrial Disease Due To Coxpd3

  • Concentric Cardiomyopathy Hypotonia And Lactic Acidosis

  • Encephalomyopathy Respiratory Failure And Lactic Acidosis

  • Encephalomyopathy With Respiratory Failure And Lactic Acidosis

  • Combined Oxidative Phosphorylation Deficiency, Type 3

Combined Oxidative Phosphorylation Deficiency 1
  • Hepatoencephalopathy Due To Combined Oxidative Phosphorylation Defect Type 1

  • COXPD1

  • Early Fatal Progressive Hepatoencephalopathy

  • Hepatoencephalopathy Due To Coxpd1

  • Combined Oxidative Phosphorylation Deficiency, Type 1

  • Hepatoencephalopathy, Early Fatal Progressive

  • Hepatoencephalopathy Early Fatal Progressive

Hyperlucent Lung
  • Lung, Hyperlucent

Combined Oxidative Phosphorylation Deficiency
Deafness, Aminoglycoside-Induced
  • Streptomycin Ototoxicity

  • Deafness, Mitochondrial, Modifier Of

  • Aminoglycoside-Induced Deafness

  • Deafness, Streptomycin-Induced

  • Streptomycin-Induced Deafness

  • DFNI

Dystonia
  • Dystonic Disease

  • Dystonic Disorder

  • Dystonia Disorders

  • Neuroleptic Dyskinesia

Leigh Syndrome
  • Leigh Disease

  • Infantile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

  • LS

  • Sne

  • Leigh'S Disease

  • Leigh Syndrome Due To Mitochondrial Complex I Deficiency

  • Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

  • Subacute Necrotizing Encephalomyelopathy

  • Necrotizing Encephalopathy Infantile Subacute Of Leigh

  • Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

  • Infantile Necrotizing Encephalomyelopathy

  • Juvenile Subacute Necrotizing Encephalomyelopathy

  • Leigh'S Necrotizing Encephalopathy

  • Subacute Necrotizing Encephalopathy

  • Juvenile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

  • Leigh Syndrome Due To Mitochondrial Complex V Deficiency

  • Encephalopathy, Subacute Necrotizing, Infantile

  • Encephalopathy, Subacute Necrotizing, Juvenile

  • Maternally Inherited Leigh Syndrome

  • Subacute Necrotising Encephalomyelopathy

  • Subacute Necrotising Encephalopathy

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
  • Melas Syndrome

  • MELAS

  • Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode

  • Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes

  • Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke

  • Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

  • Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome

  • Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

生物種 Symbol 由来 ID
Rattus norvegicus GFM2 RGD RGD:1309854
Mus musculus GFM2 MGD MGI:2444783
Canis familiaris GFM2 VGNC VGNC:41184
Felis catus GFM2 VGNC VGNC:62525
Macaca mulatta GFM2 VGNC VGNC:72808
Bos taurus GFM2 VGNC VGNC:29328
Others GFM2 NCBI