EIF2AK4 - eukaryotic translation initiation factor 2 alpha kinase 4 Gene

Homo sapiens

Also known as GCN2; PVOD2

Gene ID: 440275 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA	Protein	Name
NM_001013703.4	NP_001013725.2	eIF-2-alpha kinase GCN2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables eukaryotic translation initiation factor 2alpha kinase activity	IDA IDA: Inferred from direct assay	25329545	GOA
enables eukaryotic translation initiation factor 2alpha kinase activity	IMP IMP: Inferred from mutant phenotype	25329545	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in GCN2-mediated signaling	IDA IDA: Inferred from direct assay	25329545	GOA
involved in GCN2-mediated signaling	IMP IMP: Inferred from mutant phenotype	26102367	GOA
involved in cellular response to amino acid starvation	IMP IMP: Inferred from mutant phenotype	25329545	GOA
involved in cellular response to cold	IMP IMP: Inferred from mutant phenotype	25329545	GOA
involved in eiF2alpha phosphorylation in response to endoplasmic reticulum stress	IMP IMP: Inferred from mutant phenotype	25329545	GOA
involved in regulation of translational initiation by eIF2 alpha phosphorylation	IMP IMP: Inferred from mutant phenotype	26102367	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EIF2AK4 Protein Structure

RWD

Pkinase

tRNA-synt_His

HGTP_anticodon2

0
300
600
900
1200
1500
1649 a.a.

Protein Preferred Names

Protein Names

eIF-2-alpha kinase GCN2

GCN2 eIF2alpha kinase

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-148062	RSS0680		98.03%	Unkown
HY-RS04247	EIF2AK4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

Name
Email *

	Sorry, but the email address you supplied was invalid.