EIF2AK3 (eukaryotic translation initiation factor 2 alpha kinase 3)

2003-05-01  

Identity

HGNC
EIF2AK3
LOCATION
2p11.2
LOCUSID
9451
ALIAS
PEK,PERK,WRS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9451
MIM: 604032
HGNC: 3255
Ensembl: ENSG00000172071

Variants:

dbSNP: 9451
ClinVar: 9451
TCGA: ENSG00000172071
COSMIC: EIF2AK3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172071ENST00000303236Q9NZJ5
ENSG00000172071ENST00000652099A0A494BZR8
ENSG00000172071ENST00000652423A0A494C186

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Autophagy - animalKEGGko04140
ApoptosisKEGGko04210
Alzheimer's diseaseKEGGko05010
Autophagy - animalKEGGhsa04140
ApoptosisKEGGhsa04210
Alzheimer's diseaseKEGGhsa05010
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
Hepatitis CKEGGko05160
Hepatitis CKEGGhsa05160
MeaslesKEGGko05162
MeaslesKEGGhsa05162
Influenza AKEGGko05164
Influenza AKEGGhsa05164
Herpes simplex infectionKEGGko05168
Herpes simplex infectionKEGGhsa05168
Epstein-Barr virus infectionKEGGhsa05169
Epstein-Barr virus infectionKEGGko05169
Non-alcoholic fatty liver disease (NAFLD)KEGGhsa04932
Non-alcoholic fatty liver disease (NAFLD)KEGGko04932
Metabolism of proteinsREACTOMER-HSA-392499
Unfolded Protein Response (UPR)REACTOMER-HSA-381119
PERK regulates gene expressionREACTOMER-HSA-381042
Mitophagy - animalKEGGko04137
Mitophagy - animalKEGGhsa04137

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
374964392024DNAJC10 maintains survival and self-renewal of leukemia stem cells through PERK branch of the unfolded protein response.1
387896392024Genetic Variations in EIF2AK3 are Associated with Neurocognitive Impairment in People Living with HIV.0
374964392024DNAJC10 maintains survival and self-renewal of leukemia stem cells through PERK branch of the unfolded protein response.1
387896392024Genetic Variations in EIF2AK3 are Associated with Neurocognitive Impairment in People Living with HIV.0
365638572023Neurodegeneration risk factor, EIF2AK3 (PERK), influences tau protein aggregation.6
365844792023Mycobacterium tuberculosis PE_PGRS1 promotes mycobacteria intracellular survival via reducing the concentration of intracellular free Ca(2+) and suppressing endoplasmic reticulum stress.4
366961732023Loss of ATF6α in a human carcinoma cell line is compensated not by its paralogue ATF6β but by sustained activation of the IRE1 and PERK arms for tumor growth in nude mice.0
368210882023PERK recruits E-Syt1 at ER-mitochondria contacts for mitochondrial lipid transport and respiration.9
371660582023PERK-Mediated Cholesterol Excretion from IDH Mutant Glioma Determines Anti-Tumoral Polarization of Microglia.1
371979812023Connexin 37 sequestering of activated-ERK in the cytoplasm promotes p27-mediated endothelial cell cycle arrest.2
375360852023Loss of PERK function promotes ferroptosis by downregulating SLC7A11 (System Xc⁻) in colorectal cancer.8
378904652023The PERK Branch of the Unfolded Protein Response Safeguards Protein Homeostasis and Mesendoderm Specification of Human Pluripotent Stem Cells.2
379376422023Pericentrin deficiency in smooth muscle cells augments atherosclerosis through HSF1-driven cholesterol biosynthesis and PERK activation.0
365638572023Neurodegeneration risk factor, EIF2AK3 (PERK), influences tau protein aggregation.6
365844792023Mycobacterium tuberculosis PE_PGRS1 promotes mycobacteria intracellular survival via reducing the concentration of intracellular free Ca(2+) and suppressing endoplasmic reticulum stress.4

Citation

Dessen P

EIF2AK3 (eukaryotic translation initiation factor 2 alpha kinase 3)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40424/eif2ak3-(eukaryotic-translation-initiation-factor-2-alpha-kinase-3)