2. Gene
  3. GFM2 - GTP dependent ribosome recycling factor mitochondrial 2 Gene

GFM2 - GTP dependent ribosome recycling factor mitochondrial 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：GTP 依赖性核糖体循环因子线粒体 2

种属: Homo sapiens

同用名: RRF; EFG2; RRF2; MRRF2; hEFG2; MST027; RRF2mt; EF-G2mt; MSTP027; mEF-G 2

基因 ID: 84340 | 基因类型: protein coding

关于 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.

功能概要

真核生物包含两种蛋白质翻译系统，一种在细胞质中，一种在线粒体中。线粒体翻译对于维持线粒体功能至关重要，该系统中的突变会导致呼吸链氧化磷酸化系统崩溃并损害线粒体 DNA 的维持。该基因编码一种线粒体翻译延长因子，它是一种 GTP 酶，通过介导核糖体从信使 RNA 的分解来在线粒体翻译的终止中发挥作用。它在调节正常线粒体功能和归因于线粒体功能障碍的疾病状态中的作用尚不清楚。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2013 年 7 月]

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 基因产物(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 蛋白结构

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.
蛋白主名 其他名称

ribosome-releasing factor 2, mitochondrial

G elongation factor mitochondrial 2

GFM2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra GFM2 Q969S9 VPS52 Homo sapiens Q8N1B4
Y2H Prey Pooling
25416956
Intra GFM2 Q969S9 VPS52 Homo sapiens Q8N1B4
Y2H Array
25416956
Intra GFM2 Q969S9 VPS52 Homo sapiens Q8N1B4
Validated Y2H
25416956
Intra GFM2 Q969S9 TRIM27 Homo sapiens P14373
Validated Y2H
25416956
Intra GFM2 Q969S9 TRIM9 Homo sapiens Q9C026
Y2H Prey Pooling
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS05381 GFM2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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