EIF2AK3 - eukaryotic translation initiation factor 2 alpha kinase 3 Gene

Also Known as PEK; WRS; PERK

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9451

About EIF2AK3

Cytogenetic location: 2p11.2 Genomic coordinates (GRCh38): 2:88,556,741-88,628,145 (from NCBI)

This gene has 24 transcripts (splice variants), 197 orthologues, 8 paralogues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 13.4), stomach (RPKM 10.9) and 25 other tissues.

Summary

The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2, leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of global protein synthesis. This protein is thought to modulate mitochondrial function. It is a type I membrane protein located in the endoplasmic reticulum (ER), where it is induced by ER stress caused by malfolded proteins. Mutations in this gene are associated with Wolcott-Rallison syndrome. [provided by RefSeq, Sep 2015]

EIF2AK3 Products (5)

mRNA	Protein	Name
XM_047446428.1	XP_047302384.1	eukaryotic translation initiation factor 2-alpha kinase 3 isoform X1
XM_047446429.1	XP_047302385.1	eukaryotic translation initiation factor 2-alpha kinase 3 isoform X2
NM_004836.7	NP_004827.4	eukaryotic translation initiation factor 2-alpha kinase 3 isoform 1 precursor
XM_047446430.1	XP_047302386.1	eukaryotic translation initiation factor 2-alpha kinase 3 isoform X3
NM_001313915.2	NP_001300844.1	eukaryotic translation initiation factor 2-alpha kinase 3 isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables enzyme binding	IPI IPI: Inferred from physical interaction	23103912	GOA
enables eukaryotic translation initiation factor 2alpha kinase activity	IDA IDA: Inferred from direct assay	10026192	GOA
enables eukaryotic translation initiation factor 2alpha kinase activity	IMP IMP: Inferred from mutant phenotype	12086964	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	11907036	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11907036	GOA
enables protein phosphatase binding	IPI IPI: Inferred from physical interaction	22169477	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in ER overload response	IDA IDA: Inferred from direct assay	10677345	GOA
involved in angiogenesis	IMP IMP: Inferred from mutant phenotype	22915762	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 cellular response to glucose starvation	IMP IMP: Inferred from mutant phenotype	22915762	GOA
involved in eiF2alpha phosphorylation in response to endoplasmic reticulum stress	IMP IMP: Inferred from mutant phenotype	25329545	GOA
involved in endocrine pancreas development	IMP IMP: Inferred from mutant phenotype	12086964	GOA
involved in endoplasmic reticulum unfolded protein response	IDA IDA: Inferred from direct assay	10677345	GOA
involved in ossification	IMP IMP: Inferred from mutant phenotype	12086964	GOA
involved in positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	22915762	GOA
involved in positive regulation of transcription by RNA polymerase I	IMP IMP: Inferred from mutant phenotype	22915762	GOA
involved in positive regulation of vascular endothelial growth factor production	IMP IMP: Inferred from mutant phenotype	22915762	GOA
involved in protein autophosphorylation	IDA IDA: Inferred from direct assay	10026192	GOA
involved in protein autophosphorylation	IMP IMP: Inferred from mutant phenotype	12086964	GOA
involved in regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IMP IMP: Inferred from mutant phenotype	23000344	GOA
involved in response to endoplasmic reticulum stress	IMP IMP: Inferred from mutant phenotype	19061639	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

EIF2AK3 Protein Structure

Pkinase

0
200
400
600
800
1000
1116 a.a.

Protein Preferred Names	Protein Names
eukaryotic translation initiation factor 2-alpha kinase 3	PKR-like ER kinase PRKR-like endoplasmic reticulum kinase pancreatic EIF2-alpha kinase pancreatic eIF-2alpha kinase

EIF2AK3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	EIF2AK3	Q9NZJ5	HSPA5	Homo sapiens	P11021	Anti Bait CoIP	27238082
Intra	EIF2AK3	Q9NZJ5	HSPA5	Homo sapiens	P11021	Anti Bait CoIP	11907036

Cross: Cross-species interaction Intra: Intraspecies interaction

EIF2AK3 Antibodies

Cat. No.	상품명	신청	Reactivity
HY-P80781	PERK Antibody (YA233)	WB	Human, Mouse, Rat
HY-P80781A	PERK Antibody (YA233)(PBS only)	WB	Human, Mouse, Rat
HY-P81190	Phospho-PERK (Thr980) Antibody	WB, IHC-P, IHC-F, ICC/IF, FC	Human, Mouse, Rat
HY-P85324	PERK Antibody (YA5016)	WB; ELISA	Mouse, Rat
HY-P86542	PERK Antibody (YA6234)	WB, ICC/IF, IP, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Diabetes Mellitus, Non-Insulin-Dependent Type 2 Diabetes T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes
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
Glioblastoma	Glioblastoma Multiforme Gbm Adult Glioblastoma Multiforme Grade Iv Adult Astrocytic Tumor Primary Glioblastoma Multiforme Spongioblastoma Multiforme Adult Glioblastoma Primary Glioblastoma
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Retinal Degeneration	Degeneration Of Retina
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
Permanent Neonatal Diabetes Mellitus	Pndm Permanent Diabetes Mellitus Of Infancy Pdmi Neonatal Diabetes Mellitus, Permanent
Menkes Disease	Menkes Syndrome Copper Transport Disease MNK Kinky Hair Disease Steely Hair Disease Menkes Kinky-Hair Syndrome Mk Steely Hair Syndrome Menkea Syndrome Md Menkes Kinky Hair Syndrome Hypocupremia, Congenital Kinky Hair Syndrome X-Linked Copper Deficiency Menkes Kinky Hair Disease
Osteoporosis	Postmenopausal Osteoporosis Osteoporosis, Postmenopausal Bone Mineral Density Quantitative Trait Locus Bmnd Osteoporosis, Involutional Osteoporosis, Susceptibility To Osteoporosis, Postmenopausal, Susceptibility Bone Mineral Density Variation Qtl, Osteoporosis OSTEOP Involutional Osteoporosis Senile Osteoporosis Osteoporosis Postmenopausal Bone Mineral Density, Quantitative Trait Locus Osteoporosis, Senile Idiopathic Osteoporosis Bone Rarefaction Nos Type 1 Osteoporosis
Retinitis Pigmentosa 58	RP58 Retinitis Pigmentosa, Type 58
Ovarian Cancer	Ovarian Carcinoma Ovarian Neoplasm Malignant Tumour Of Ovary Epithelial Ovarian Cancer Neoplasm Of Ovary Ovarian Neoplasms Ovarian Cancers Malignant Neoplasm Of Ovary Primary Malignant Neoplasm Of Ovary Ovarian Cancer, Somatic Malignant Ovarian Tumor Ovary Neoplasm Primary Ovarian Cancer Tumor Of The Ovary Cancer Of The Ovary Malignant Neoplasm Of The Ovary Malignant Tumor Of The Ovary Ovarian Malignant Tumor OC Ovarian Carcinomas Cancer, Ovarian Cancer Of Ovary Ovary Cancer Ca Ovary
Diabetes Mellitus	Diabetes
Melanoma	Malignant Melanoma Cutaneous Melanoma Naevocarcinoma Malignant Melanomas
Autosomal Dominant Intellectual Developmental Disorder 8	Autosomal Dominant Non-Syndromic Intellectual Disability 8 Mental Retardation, Autosomal Dominant 8 Autosomal Dominant Mental Retardation 8 Mrd8
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Maturity-Onset Diabetes Of The Young	MODY Maturity Onset Diabetes Mellitus In Young Mason-Type Diabetes Mason Type Diabetes Maturity Onset Diabetes Of The Young Mody Syndrome Diabetes Of The Young, Maturity-Onset
Osteochondrodysplasia	Chondrodystrophy Skeletal Dysplasia Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Lung Cancer	Lung Carcinoma Non-Small Cell Lung Carcinoma Lung Cancer, Protection Against Lung Cancer, Susceptibility To Adenocarcinoma Of Lung, Somatic Nonsmall Cell Lung Cancer Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In Lung Neoplasm Carcinoma Of Lung Lung Non-Small Cell Carcinoma Non-Small Cell Lung Cancer Nsclc Lung Neoplasms Malignant Neoplasm Of Lung Alveolar Cell Carcinoma Nonsmall Cell Lung Cancer, Somatic Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer, Susceptibility To Lung Cancer, Somatic Lung Cancer, Resistance To Cancer Of Lung Cancer Of Bronchus Cancer Of The Lung Lung Malignancies Lung Malignant Tumors Malignant Lung Tumor Malignant Tumor Of Lung Pulmonary Cancer Pulmonary Carcinoma Pulmonary Neoplasms Respiratory Carcinoma LNCR Adenocarcinoma Of Lung Neoplasm Of Lung Cancer Lung Carcinoma Non-Small Cell Lung Carcinoma, Non-Small-Cell Lung Lung Cancers Lung Carcinomas Cancer, Lung Cancer, Lung, Non-Small Cell Primary Malignant Neoplasm Of Lung Bronchioloalveolar Adenocarcinoma
Deafness, Autosomal Dominant 44	DFNA44 Autosomal Dominant Nonsyndromic Deafness 44 Autosomal Dominant Deafness 44 Deafness, Autosomal Dominant, 44 Deafness, Autosomal Dominant, Type 44
Acute Salpingo-Oophoritis	Acute Salpingitis And Oophoritis
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Glioblastoma Classical Subtype
Multiple Epiphyseal Dysplasia	Med Polyepiphyseal Dysplasia Edm Epiphyseal Dysplasia, Multiple, 1 Epiphyseal Dysplasia, Multiple, 2 Epiphyseal Dysplasia, Multiple, 3 Epiphyseal Dysplasia, Multiple, 4 Epiphyseal Dysplasia, Multiple, 5 Epiphyseal Dysplasia, Multiple Edm1 Edm2 Edm3 Edm4 Edm5 Epiphyseal Dysplasia, Fairbank Type Epiphyseal Dysplasia, Ribbing Type Multiple Epiphyseal Dysplasia, Autosomal Dominant Multiple Epiphyseal Dysplasia, Autosomal Recessive Rmed Dysplasia, Epiphyseal, Multiple Osteochondrodysplasias
Wolfram Syndrome	Didmoad Syndrome Didmoad Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness Wfs Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, And Deafness Didmoadud Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Hearing Loss Syndrome
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
Neonatal Diabetes	Neonatal Diabetes Mellitus Diabetes Mellitus Syndrome In Newborn Infant Ndm
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome
Mesothelioma, Malignant	Malignant Mesothelioma Pleural Mesothelioma MESOM Mesothelioma, Somatic Advanced Malignant Mesothelioma Asbestos-Related Malignant Mesothelioma Diffuse Malignant Mesothelioma Malignant Tumor Of Mesothelium Malignant Mesothelioma, Susceptibility To Mesothelioma Diffuse Malignant Mesothelioma Malignant Pleural Mesothelioma

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.	상품명	효과	Purity	Rare Diseases
HY-119240	CCT020312	Activator	99.05%	Unkown
HY-RS04244	EIF2AK3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04245	Eif2ak3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04246	Eif2ak3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	EIF2AK3	VGNC	VGNC:72181
Bos taurus	EIF2AK3	VGNC	VGNC:28382
Felis catus	EIF2AK3	VGNC	VGNC:61771
Canis familiaris	EIF2AK3	VGNC	VGNC:40258
Mus musculus	EIF2AK3	MGD	MGI:1341830
Rattus norvegicus	EIF2AK3	RGD	RGD:70884
Others	EIF2AK3	NCBI