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  2. EIF2B4 - eukaryotic translation initiation factor 2B subunit delta Gene

EIF2B4 - eukaryotic translation initiation factor 2B subunit delta Gene

中文名称:真核翻译起始因子 2B 亚基三角洲

种属: Homo sapiens

同用名: EIF2B; EIF-2B; EIF2Bdelta

基因 ID: 8890 | 基因类型: protein coding

关于 EIF2B4

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:27,364,352-27,370,338 (from NCBI)

This gene has 10 transcripts (splice variants), 206 orthologues, 3 paralogues and is associated with 7 phenotypes. Ubiquitous expression in testis (RPKM 20.0), prostate (RPKM 13.7) and 25 other tissues.

功能概要

蛋白质合成所必需的真核起始因子 2B (EIF2B) 是由五个不同亚基组成的 GTP 交换因子。该基因编码的蛋白质是第四个或δ亚基。该基因的缺陷是导致白质消失 (VWM) 和卵巢白质营养不良的脑白质病的原因。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2008 年 7 月]

Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

EIF2B4 基因产物(8)

mRNA Protein Name
NM_001034116.2 NP_001029288.1 translation initiation factor eIF-2B subunit delta isoform 2
NM_001318965.2 NP_001305894.1 translation initiation factor eIF-2B subunit delta isoform 4
NM_001318966.2 NP_001305895.1 translation initiation factor eIF-2B subunit delta isoform 5
NM_001318967.2 NP_001305896.1 translation initiation factor eIF-2B subunit delta isoform 6
NM_001318968.2 NP_001305897.1 translation initiation factor eIF-2B subunit delta isoform 7
NM_001318969.2 NP_001305898.1 translation initiation factor eIF-2B subunit delta isoform 8
NM_015636.4 NP_056451.3 translation initiation factor eIF-2B subunit delta isoform 3
NM_172195.4 NP_751945.2 translation initiation factor eIF-2B subunit delta isoform 1
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
contributes to 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
15060152 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 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 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
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

EIF2B4 蛋白结构

IF-2B

IF-2B: Initiation factor 2 subunit family (219 - 508)

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

translation initiation factor eIF-2B subunit delta

eIF-2B GDP-GTP exchange factor subunit delta

EIF2B4 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
种属内
EIF2B4 Q9UI10 KLKB1 Homo sapiens P03952 32814053
种属内
EIF2B4 Q9UI10 KLKB1 Homo sapiens P03952 32814053
种属内
EIF2B4 Q9UI10 KLKB1 Homo sapiens P03952 32814053
种属内
EIF2B4 Q9UI10 EIF2B2 Homo sapiens Q53XC2 25416956
种属内
EIF2B4 Q9UI10 EIF2B2 Homo sapiens Q53XC2 25416956
种属内
EIF2B4 Q9UI10 EIF2B2 Homo sapiens Q53XC2 25416956
种属内
EIF2B4 Q9UI10 UQCRC1 Homo sapiens P31930 32814053
种属内
EIF2B4 Q9UI10 UQCRC1 Homo sapiens P31930 32814053
种属内
EIF2B4 Q9UI10 UQCRC1 Homo sapiens P31930 32814053
种属内
EIF2B4 Q9UI10 GATM Homo sapiens P50440 32814053
种属内
EIF2B4 Q9UI10 GATM Homo sapiens P50440 32814053
种属内
EIF2B4 Q9UI10 GATM Homo sapiens P50440 32814053
种属内
EIF2B4 Q9UI10 GRB2 Homo sapiens P62993 32814053
种属内
EIF2B4 Q9UI10 GRB2 Homo sapiens P62993 32814053
种属内
EIF2B4 Q9UI10 GRB2 Homo sapiens P62993 32814053
种属内
EIF2B4 Q9UI10 LPL Homo sapiens P06858 32814053
种属内
EIF2B4 Q9UI10 LPL Homo sapiens P06858 32814053
种属内
EIF2B4 Q9UI10 LPL Homo sapiens P06858 32814053
种属内
EIF2B4 Q9UI10 EIF2B2 Homo sapiens P49770 25910212
种属内
EIF2B4 Q9UI10 EIF2B2 Homo sapiens P49770 31515488
种属内
EIF2B4 Q9UI10 EIF2B2 Homo sapiens P49770 25910212
种属内
EIF2B4 Q9UI10 EIF2B2 Homo sapiens P49770 25910212
种属内
EIF2B4 Q9UI10 EIF2B2 Homo sapiens P49770 32296183
种属内
EIF2B4 Q9UI10 EIF2B2 Homo sapiens P49770 32296183
种属内
EIF2B4 Q9UI10 FOS Homo sapiens P01100 32814053
种属内
EIF2B4 Q9UI10 FOS Homo sapiens P01100 32814053
种属内
EIF2B4 Q9UI10 FOS Homo sapiens P01100 32814053
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
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

Childhood Ataxia With Central Nervous System Hypomyelination / Vanishing White Matter

Cach/Vwm

Leukoencephalopathy With Vanishing White Matter

Leukodystrophy

Leukodystrophies

Glycogen Storage Disease Xv

GSD15

Gsd Xv

Glycogenin Deficiency

Gyg1 Deficiency

Glycogen Storage Disease Type Xv

Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency

Gsd Type 15

Gsd Type Xv

Gsd With Severe Cardiomyopathy Due To Glycogenin Deficiency

Glycogen Storage Disease Type 15

Glycogenosis Type 15

Glycogenosis Type Xv

Glycogenosis With Severe Cardiomyopathy Due To Glycogenin Deficiency

Glycogen Storage Disease 15

Storage Disease, Glycogen, Type Xv

Leukodystrophy, Hypomyelinating, 13

Hypomyelinating Leukodystrophy 13

HLD13

C11orf73-Related Autosomal Recessive Hypomyelinating Leukodystrophy

C11orf73-Related Autosomal Recessive Hypomyelinating Leukoencephalopathy

Hypomyelinating Leukodystrophy Due To Hikeshi Deficiency

Combined Saposin Deficiency

Encephalopathy Due To Prosaposin Deficiency

Combined Sap Deficiency

PSAPD

Prosaposin Deficiency

Combined Prosaposin Deficiency

CSAPD

Saposin Deficiency, Combined

Spastic Ataxia 8
Leukodystrophy, Hypomyelinating, 12

Hypomyelinating Leukodystrophy 12

HLD12

Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy

Vps11-Related Autosomal Recessive Hypomyelinating Leukoencephalopathy

Hemangioma Of Intra-Abdominal Structure

Hemangioma Of Intra-Abdominal Structures

Hemangioma, Intra-Abdominal

Leukodystrophy, Hypomyelinating, 9

Hypomyelinating Leukodystrophy 9

HLD9

Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy

Leukodystrophy, Hypomyelinating, Type 9

Leukodystrophy, Hypomyelinating, 10

Hypomyelinating Leukodystrophy 10

HLD10

Pycr2-Related Microcephaly-Progressive Leukoencephalopathy

Leukodystrophy, Hypomyelinating, Type 10

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

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

Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism

HLD7

Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination Syndrome

Addh

Leukodystrophy, Hypomyelinating, With Hypodontia And Hypogonadotropic Hypogonadism

4h Syndrome

4h Leukodystrophy 1

Hypomyelinating Leukodystrophy 7 With Or Without Oligodontia And-Or Hypogonadotropic Hypogonadism

Hypomyelination-Cerebellar Atrophy-Hypoplasia Of The Corpus Callosum Syndrome

Leukodystrophy With Oligodontia

Tach Syndrome

Tremor-Ataxia-Central Hypomyelination Syndrome

Leukoencephalopathy, Hypomyelinating, With Ataxia And Delayed Dentition

Ataxia, Delayed Dentition, And Hypomyelination

Ataxia-Delayed Dentition-Hypomyelination Syndrome

Odontoleukodystrophy

Dentoleukoencephalopathy

Hypomyelinating Leukodystrophy-Ataxia-Hypodontia-Hypomyelination Syndrome

Ataxia-Delayed Dentition-Hypomyelination Syndrome

Ataxia Delayed Dentition And Hypomyelination

Leukodystrophy Hypomyelinating With Hypodontia And Hypogonadotropic Hypogonadism 4h Syndrome

Leukoencephalopathy Hypomyelinating With Ataxia And Delayed Dentition

Tach

Tremor-Ataxia With Central Hypomyelination

Attention Deficit Hyperactivity Disorder

Leukodystrophy, Dysmyelinating, With Oligodontia

Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease

Pcwh Syndrome

PCWH

Neurologic Waardenburg-Shah Syndrome

Waardenburg-Shah Syndrome, Neurologic Variant

Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Hirschsprung Disease-Waardenburg Syndrome

Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease

Ws4 Plus

Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome And Hirschsprung Disease

Waardenburg-Shah Syndrome Neurologic Variant

Cerebral Degeneration

Brain Degeneration

Degenerative Brain Disorder

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus EIF2B4 MGD MGI:95300
Rattus norvegicus EIF2B4 RGD RGD:620208
Canis familiaris EIF2B4 VGNC VGNC:40263
Felis catus EIF2B4 VGNC VGNC:61776
Bos taurus EIF2B4 VGNC VGNC:28387
Macaca mulatta EIF2B4 VGNC VGNC:72185