2. Gene
  3. MIEF2 - mitochondrial elongation factor 2 Gene

MIEF2 - mitochondrial elongation factor 2 Gene

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

中文名称：线粒体延长因子 2

种属: Homo sapiens

同用名: MID49; SMCR7; COXPD49

基因 ID: 125170 | 基因类型: protein coding

关于 MIEF2

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:18,260,662-18,266,552 (from NCBI)

This gene has 9 transcripts (splice variants), 1 gene allele, 197 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in ovary (RPKM 4.6), kidney (RPKM 4.0) and 25 other tissues.

功能概要

该基因编码一种线粒体外膜蛋白，可调节线粒体形态。它可以直接将裂变介质动力蛋白相关蛋白 1 (Drp1) 募集到线粒体表面。该基因位于 17 号染色体上的 Smith-Magenis 综合征区域内。可变剪接导致编码不同亚型的多个转录变体。[RefSeq 提供，2011 年 6 月]

This gene encodes an outer mitochondrial membrane protein that functions in the regulation of mitochondrial morphology. It can directly recruit the fission mediator dynamin-related protein 1 (Drp1) to the mitochondrial surface. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]

MIEF2 基因产物(3)

mRNA Protein Name
NM_001144900.3 NP_001138372.1 mitochondrial dynamics protein MID49 isoform 3
NM_139162.4 NP_631901.2 mitochondrial dynamics protein MID49 isoform 1
NM_148886.2 NP_683684.2 mitochondrial dynamics protein MID49 isoform 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
NOT involved in mitochondrial fusion IMP
IMP: 通过突变表型推断
23921378 GOA
involved in mitochondrion organization IDA
IDA: 通过直接分析推断
21508961 GOA
involved in positive regulation of mitochondrial fission IDA
IDA: 通过直接分析推断
23283981 GOA
NOT involved in positive regulation of protein targeting to membrane IDA
IDA: 通过直接分析推断
23921378 GOA
involved in positive regulation of protein targeting to membrane IDA
IDA: 通过直接分析推断
23283981 GOA
involved in regulation of mitochondrion organization IMP
IMP: 通过突变表型推断
29361167 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial outer membrane IDA
IDA: 通过直接分析推断
21508961 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
23921378 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

MIEF2 蛋白结构

Mab-21

Mab-21: Mab-21 protein (327 - 443)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 454 a.a.
蛋白主名 其他名称

mitochondrial dynamics protein MID49

Smith-Magenis syndrome chromosomal region candidate gene 7 protein

MIEF2 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 MIEF2 Q96C03 AGTRAP Homo sapiens Q6RW13
Y2H Array
25416956
Intra MIEF2 Q96C03 UBQLN1 Homo sapiens Q9UMX0
Y2H Array
25416956
Intra MIEF2 Q96C03 UBQLN1 Homo sapiens Q9UMX0
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 49

COXPD49
Smith-Magenis Syndrome

SMS

Chromosome 17p11.2 Deletion Syndrome

17p11.2 Microdeletion Syndrome

17p11.2 Monosomy

Chromosome 17p Deletion Syndrome

Del(17)

P11.2

17p- Syndrome

Deletion 17p Syndrome

Partial Monosomy 17p
Mitochondrial Myopathy

Mitochondrial Myopathies

Mitochondrial Cytopathy

Myopathies In Mitochondrial Disorders
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1

Encephalopathy, Lethal, Due To Defective Mitochondrial Peroxisomal Fission 1

EMPF1

Empf

Dnm1l-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect

Encephalopahty, Lethal, Due To Defective Mitochondrial Peroxisomal Fission

Encephalopahty, Lethal, Due To Defective Mitochondrial Peroxisomal Fission 1

Encephalopathy, Lethal, Due To Defective Mitochondrial And Peroxisomal Fission
Myopathy, Centronuclear, 1

Autosomal Dominant Centronuclear Myopathy

CNM1

Centronuclear Myopathy 1

Ad-Cnm

Myopathy, Centronuclear, Autosomal Dominant

Myotubular Myopathy, Autosomal Dominant

Centronuclear Myopathy, Autosomal, Modifier Of

Autosomal Dominant Myotubular Myopathy

Dnm2-Related Centronuclear Myopathy

Centronuclear Myopathy Autosomal Dominant

Myopathies, Structural, Congenital

Myopathy, Centronuclear, Type 1
3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy
Optic Nerve Disease

Optic Neuropathy

Disorder Of The Second Nerve

Optic Nerve Disorder

Optic Nerve

Abnormality Of The Optic Nerve

Optic Nerve Disorders

Neuropathy, Optic

Disorder Of The Optic Nerve
Cranial Nerve Disease

Cranial Nerve Disorder

Disorder Of Cranial Nerve

Cranial Nerve Diseases
Myopathy

Muscular Diseases

Myopathies
Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies
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-RS08440 MIEF2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus MIEF2 VGNC VGNC:55849
Canis familiaris MIEF2 VGNC VGNC:43227
Felis catus MIEF2 VGNC VGNC:99279
Rattus norvegicus MIEF2 RGD RGD:1560728
Mus musculus MIEF2 MGD MGI:2144199
Macaca mulatta MIEF2 VGNC VGNC:74789
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