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EIF2AK4 - eukaryotic translation initiation factor 2 alpha kinase 4 Gene

Also Known as GCN2; PVOD2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 440275

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	References	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	References	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

EIF2AK4 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80138	GCN2 Antibody (YA417)	WB, ICC/IF, IHC-P, FC	Human
HY-P83288	Phospho-GCN2 (Thr899) Antibody (YA3033)	WB	Human

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-148062	RSS0680	Degrader	99.85%	Unkown
HY-W319647	GCN2 activator-1	Inhibitor	99.69%	Unkown
HY-E70712	EIF2AK4 Recombinant Human Active Protein Kinase		/	Unkown
HY-RS04247	EIF2AK4 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	EIF2AK4	NCBI