1. Gene
  2. EIF2AK4 - eukaryotic translation initiation factor 2 alpha kinase 4 Gene

EIF2AK4 - eukaryotic translation initiation factor 2 alpha kinase 4 Gene

中文名称:真核翻译起始因子 2 α 激酶 4

种属: Homo sapiens

同用名: GCN2; PVOD2

基因 ID: 440275 | 基因类型: protein coding

关于 EIF2AK4

Cytogenetic location: 15q15.1 Genomic coordinates (GRCh38): 15:39,934,115-40,035,591 (from NCBI)

This gene has 11 transcripts (splice variants), 215 orthologues, 8 paralogues and is associated with 4 phenotypes. Ubiquitous expression in prostate (RPKM 9.5), thyroid (RPKM 9.2) and 25 other tissues.

功能概要

该基因编码激酶家族的成员,磷酸化真核翻译起始因子 2 (EIF2) 的 α 亚基,导致蛋白质合成下调。编码的蛋白质通过结合不带电的转移 RNA 来响应氨基酸剥夺。它也可能被葡萄糖剥夺和病毒感染激活。在患有常染色体隐性肺静脉闭塞病 2 的个体中发现了该基因的突变。[RefSeq 提供,2014 年 3 月]

This gene encodes a member of a family of kinases that phosphorylate the alpha subunit of eukaryotic translation initiation factor-2 (EIF2), resulting in the downregulaton of protein synthesis. The encoded protein responds to amino acid deprivation by binding uncharged transfer RNAs. It may also be activated by glucose deprivation and viral Infection. Mutations in this gene have been found in individuals suffering from autosomal recessive pulmonary venoocclusive-disease-2. [provided by RefSeq, Mar 2014]

EIF2AK4 基因产物(1)

mRNA Protein Name
NM_001013703.4 NP_001013725.2 eIF-2-alpha kinase GCN2
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables eukaryotic translation initiation factor 2alpha kinase activity IDA
IDA: 通过直接分析推断
25329545 GOA
enables eukaryotic translation initiation factor 2alpha kinase activity IMP
IMP: 通过突变表型推断
25329545 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in GCN2-mediated signaling IDA
IDA: 通过直接分析推断
25329545 GOA
involved in GCN2-mediated signaling IMP
IMP: 通过突变表型推断
26102367 GOA
involved in cellular response to amino acid starvation IMP
IMP: 通过突变表型推断
25329545 GOA
involved in cellular response to cold IMP
IMP: 通过突变表型推断
25329545 GOA
involved in eiF2alpha phosphorylation in response to endoplasmic reticulum stress IMP
IMP: 通过突变表型推断
25329545 GOA
involved in regulation of translational initiation by eIF2 alpha phosphorylation IMP
IMP: 通过突变表型推断
26102367 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

EIF2AK4 蛋白结构

RWD

RWD: RWD domain (21 - 133)

Pkinase

Pkinase: Protein kinase domain (332 - 539)

Pkinase

Pkinase: Protein kinase domain (590 - 658)

Pkinase

Pkinase: Protein kinase domain (796 - 1000)

tRNA-synt_His

tRNA-synt_His: Histidyl-tRNA synthetase (1059 - 1381)

HGTP_anticodon2

HGTP_anticodon2: Anticodon binding domain of tRNAs (1395 - 1643)

  • 0
  • 300
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  • 1500
  • 1649 a.a.
蛋白主名 其他名称

eIF-2-alpha kinase GCN2

GCN2 eIF2alpha kinase

关联疾病

疾病名称 别名
Pulmonary Venoocclusive Disease 2, Autosomal Recessive

Pulmonary Capillary Hemangiomatosis

Familial Pulmonary Capillary Hemangiomatosis

PVOD2

Hemangiomatosis, Familial Pulmonary Capillary

Pulmonary Venoocclusive Disease 2

Venoocclusive Disease, Pulmonary, Type 2

Pulmonary Venoocclusive Disease

Pulmonary Veno-Occlusive Disease

Obstructive Disease Of The Pulmonary Veins

Pvod

Isolated Pulmonary Venous Sclerosis

Venous Form Of Primary Pulmonary Hypertension

Pulmonary Venoocclusive Disease 1, Autosomal Dominant

Pulmonary Hypertension, Primary, 1

Pulmonary Arterial Hypertension

Pah

Idiopathic Pulmonary Arterial Hypertension

Idiopathic Pulmonary Hypertension

Primary Pulmonary Hypertension

PPH1

Pulmonary Hypertension, Primary, Fenfluramine Or Dexfenfluramine-Associated

Pulmonary Hypertension, Familial Primary, 1, With Or Without Hht

Pph

Familial Primary Pulmonary Hypertension

Sporadic Primary Pulmonary Hypertension

Pht

Fpah

Familial Pulmonary Arterial Hypertension

Hereditary Pulmonary Arterial Hypertension

Heritable Pulmonary Arterial Hypertension

Ayerza Syndrome

Fpph

Ppht

Ipah

Primary Pulmonary Arterial Hypertension

Pulmonary Hypertension, Familial Primary

Hypertension, Pulmonary, Primary, Type 1

Ayerza'S Syndrome

Pah - [Pulmonary Arterial Hypertension]

Arrillaga Ayerza Syndrome

Heritable Pulmonary Arterial Hypertension

Fpah

Familial Pulmonary Arterial Hypertension

Hpah

Hereditary Pulmonary Arterial Hypertension

Familial Primary Pulmonary Hypertension

Yellow Fever

Urban Yellow Fever

Jungle Yellow Fever

Sylvatic Yellow Fever

Yf

Yellow Fever, Sylvan

Bronze John

Yellow Jack

Yf- [Yellow Fever]

Febris Flava

Pulmonary Venoocclusive Disease 1, Autosomal Dominant

Pulmonary Venoocclusive Disease 1

PVOD1

Pvod

Pulmonary Veno-Occlusive Disease

Pulmonary Veno-Occlusive Disease, Type 1

Pulmonary Hypertension

Primary Pulmonary Hypertension

Hypertension Pulmonary

Hypertension, Pulmonary

Hypertension, Pulmonary, Primary

Idiopathic Pulmonary Hypertension

Idiopathic Pulmonary Arterial Hypertension

Pulmonary Htn - [Hypertension]

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

Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus

Wolcott-Rallison Syndrome

Med-Iddm Syndrome

Iddm-Med Syndrome

Wolcott Rallison Syndrome

WRS

Epiphyseal Dysplasia Multiple With Early-Onset Diabetes Mellitus

Early-Onset Diabetes Mellitus With Multiple Epiphyseal Dysplasia

Multiple Epiphyseal Dysplasia With Early-Onset Diabetes Mellitus

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
Canis familiaris EIF2AK4 VGNC VGNC:40259
Rattus norvegicus EIF2AK4 RGD RGD:1311439
Macaca mulatta EIF2AK4 VGNC VGNC:84337
Felis catus EIF2AK4 VGNC VGNC:61772
Bos taurus EIF2AK4 VGNC VGNC:28383
Mus musculus EIF2AK4 MGD MGI:1353427