2. Gene
  3. EIF2B5 - eukaryotic translation initiation factor 2B subunit epsilon Gene

EIF2B5 - eukaryotic translation initiation factor 2B subunit epsilon Gene

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

中文名称：真核翻译起始因子 2B 亚基 epsilon

种属: Homo sapiens

同用名: CLE; CACH; LVWM; EIF-2B; EIF2Bepsilon

基因 ID: 8893 | 基因类型: protein coding

关于 EIF2B5

Cytogenetic location: 3q27.1 Genomic coordinates (GRCh38): 3:184,135,358-184,145,311 (from NCBI)

This gene has 31 transcripts (splice variants), 200 orthologues, 3 paralogues and is associated with 7 phenotypes. Ubiquitous expression in lymph node (RPKM 12.1), spleen (RPKM 11.5) and 25 other tissues.

功能概要

该基因编码真核翻译起始因子 2B (EIF2B) 的五个亚基之一，真核翻译起始因子 2 的 GTP 交换因子和蛋白质合成的重要调节因子。该基因和编码其他 EIF2B 亚基的基因的突变与白质消失的白质脑病有关。[RefSeq 提供，2009 年 11 月]

This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding Other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Nov 2009]

EIF2B5 基因产物(1)

mRNA Protein Name
NM_003907.3 NP_003898.2 translation initiation factor eIF-2B subunit epsilon
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
contributes to guanyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
11323413 GOA
enables guanyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
25858979 GOA
enables guanyl-nucleotide exchange factor activity IMP
IMP: 通过突变表型推断
15054402 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10481074 GOA
contributes to translation initiation factor activity IDA
IDA: 通过直接分析推断
16289705 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in T cell receptor signaling pathway IDA
IDA: 通过直接分析推断
8626696 GOA
involved in astrocyte development IMP
IMP: 通过突变表型推断
15723074 GOA
involved in astrocyte differentiation IMP
IMP: 通过突变表型推断
15723074 GOA
involved in cytoplasmic translational initiation IDA
IDA: 通过直接分析推断
27023709 GOA
involved in myelination IMP
IMP: 通过突变表型推断
14566705 GOA
involved in oligodendrocyte development IMP
IMP: 通过突变表型推断
15217090 GOA
involved in ovarian follicle development IMP
IMP: 通过突变表型推断
15507143 GOA
involved in response to endoplasmic reticulum stress IMP
IMP: 通过突变表型推断
16041584 GOA
involved in response to heat IMP
IMP: 通过突变表型推断
15723074 GOA
involved in translational initiation IDA
IDA: 通过直接分析推断
16289705 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
11323413 GOA
part of eukaryotic translation initiation factor 2B complex IDA
IDA: 通过直接分析推断
11323413 GOA
NOT located in nucleus IDA
IDA: 通过直接分析推断
12426392 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

EIF2B5 蛋白结构

Hexapep

Hexapep: Bacterial transferase hexapeptide (six repeats) (345 - 376)

W2

W2: eIF4-gamma/eIF5/eIF2-epsilon (641 - 721)

  • 0
  • 200
  • 400
  • 600
  • 721 a.a.
蛋白主名 其他名称

translation initiation factor eIF-2B subunit epsilon

eIF-2B GDP-GTP exchange factor subunit epsilon

EIF2B5 抗体

目录号 产品名 应用 反应物种
HY-P82058 eIF2B5 Antibody (YA1803) WB, IHC-P, ICC/IF Human

关联疾病

疾病名称 别名
Leukoencephalopathy With Vanishing White Matter

Cree Leukoencephalopathy

Vanishing White Matter Disease

Ovarioleukodystrophy

Vanishing White Matter Leukodystrophy

Childhood Ataxia With Central Nervous System Hypomyelinization

Cach

Cach Syndrome

Myelinosis Centralis Diffusa

VWM

Cle

Childhood Ataxia With Central Nervous System Hypomyelination

Childhood Ataxia With Diffuse Central Nervous System Hypomyelination

Cach/Vwm

Cach/Vwm Syndrome

Childhood Ataxia With Central Nervous System Hypomyelination/Vanishing White Matter

Cree Leukoencehalopathy

Late Infantile Cach Syndrome

Juvenile Or Adult Cach Syndrome

Congenital Or Early Infantile Cach Syndrome

Leukodystrophy With Vanishing White Matter
Leukodystrophy

Leukodystrophies
Hypomyelinating Leukodystrophy

Hld

Leukodystrophy, Hypomyelinating
Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia
Childhood Ataxia With Central Nervous System Hypomyelination / Vanishing White Matter

Cach/Vwm

Leukoencephalopathy With Vanishing White Matter
Leukodystrophy, Hypomyelinating, 5

Hypomyelination And Congenital Cataract

HLD5

Hypomyelination-Congenital Cataract Syndrome

Hypomyelinating Leukodystrophy 5

Hcc

Hypomyelination And Congenital Cataract: Hcc

Hypomyelination - Congenital Cataract

Hypomyelination With Congenital Cataract
Mehmo Syndrome

Mental Retardation, Epileptic Seizures, Hypogonadism And Hypogenitalism, Microcephaly, And Obesity

MEHMO

Mrxs20

Mrxs25

X-Linked Intellectual Disability-Epileptic Seizures-Hypogenitalism-Microcephaly-Obesity Syndrome

Mrxsbrk

Mental Retardation, X-Linked, Syndromic 20

Mental Retardation, X-Linked, Syndromic 25

Mental Retardation, X-Linked, Syndromic, Borck Type

Syndromic X-Linked Mental Retardation 20

Syndromic X-Linked Mental Retardation 25

Intellectual Disability, Epileptic Seizures, Hypogonadism And Hypogenitalism, Microcephaly, And Obesity

X-Linked Mehmo Syndrome
Combined Oxidative Phosphorylation Deficiency 11

COXPD11

Combined Oxidative Phosphorylation Defect Type 11

Infantile Encephaloneuromyopathy Due To Mitochondrial Translation Defect

Encephaloneuromyopathy, Infantile, Due To Mitochondrial Translation Defect

Combined Oxidative Phosphorylation Deficiency, Type 11
Lidocaine Allergy

Lidoderm Allergy

Lignocaine Allergy

Xylocaine Allergy
Cerebral Degeneration

Brain Degeneration

Degenerative Brain Disorder
Combined Saposin Deficiency

Encephalopathy Due To Prosaposin Deficiency

Combined Sap Deficiency

PSAPD

Prosaposin Deficiency

Combined Prosaposin Deficiency

CSAPD

Saposin Deficiency, Combined
Megalencephalic Leukoencephalopathy With Subcortical Cysts 1

Van Der Knaap Disease

Leukoencephalopathy With Swelling And Cysts

MLC1

Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts

Lvm

Vl

Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, 1

Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, Type 1

Megalencephalic Leukoencephalopathy With Subcortical Cysts
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1

Hereditary Diffuse Leukoencephalopathy With Spheroids

Adult-Onset Leukoencephalopathy With Axonal Spheroids And Pigmented Glia

Alsp

Gpsc

Subcortical Gliosis Of Neumann

Leukoencephalopathy, Diffuse Hereditary, With Spheroids 1

Autosomal Dominant Leukoencephalopathy With Neuroaxonal Spheroids

Hdls

HDLS1

Leukoencephalopathy, Adult-Onset, With Axonal Spheroids And Pigmented Glia

Gliosis, Familial Progressive Subcortical

Leukoencephalopathy, Diffuse Hereditary, With Spheroids

Pold

Pigmentary Orthochromatic Leukodystrophy

Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids And Pigmented Glia

Familial Progressive Subcortical Gliosis

Leukoencephalopathy With Neuroaxonal Spheroids, Autosomal Dominant

Dementia, Familial, Neumann Type

Adult-Onset Leukodystrophy With Neuroaxonal Spheroids

Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids

Neuroaxonal Leukodystrophy

Fpsg

Familial Dementia, Neumann Type

Familial Dementia Neumann Type

Leukoencephalopathy, Diffuse Hereditary, With Spheroid
Pelizaeus-Merzbacher Disease

PMD

HLD1

Pelizaeus-Merzbacher Brain Sclerosis

Leukodystrophy, Hypomyelinating, 1

Diffuse Familial Brain Sclerosis

Pelizaeus Merzbacher Brain Sclerosis

Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type

Cockayne-Pelizaeus-Merzbacher Disease

Hypomyelinating Leukodystrophy 1

Leukodystrophy, Sudanophilic

Pelizaeus Merzbacher Disease

Hypomyelinating Leukodystrophy, 1

Sudanophilic Leukodystrophy

Pelizaeus-Merzbacher Disease, Connatal Form

Connatal Pmd

Pelizaeus-Merzbacher Disease Type Ii

Severe Pmd

Null Syndrome

Plp1 Null Syndrome

Pelizaeus-Merzbacher Disease, Null Syndrome

Brain Sclerosis Diffuse Familial

Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type

Leukodystrophy Hypomyelinating 1

Diffuse Cerebral Sclerosis Of Schilder
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-RS04252 EIF2B5 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus EIF2B5 MGD MGI:2446176
Macaca mulatta EIF2B5 VGNC VGNC:72186
Rattus norvegicus EIF2B5 RGD RGD:708380
Felis catus EIF2B5 VGNC VGNC:61777
Bos taurus EIF2B5 VGNC VGNC:28388
Canis familiaris EIF2B5 VGNC VGNC:40264
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