AutismKB 2.0

Annotation Detail for EIF2AK3


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Basic Information Top
Gene Symbol:EIF2AK3 ( DKFZp781H1925,PEK,PERK,WRS )
Gene Full Name: eukaryotic translation initiation factor 2-alpha kinase 3
Band: 2p11.2
Quick LinksEntrez ID:9451; OMIM: 604032; Uniprot ID:E2AK3_HUMAN; ENSEMBL ID: ENSG00000172071; HGNC ID: 3255
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa05160Hepatitis C
hsa04141Protein processing in endoplasmic reticulum
hsa05010Alzheimer's disease
Pathway IDPathway Name
Diabetes pathways
No data
No data
Pathway IDPathway Name
500132PERK regulated gene expression
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1850Herpes
1904Diabetes mellitus
1934Cancer
No data
Desease Name
Height
Desease Name
Wolcott-Rallison syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of EIF2AK3 mRNAaffects expression 17562736
D000638 Amiodarone Amiodarone results in increased expression of EIF2AK3 mRNAincreases expression 19774075
D000643 Ammonium Chloride Ammonium Chloride affects the expression of EIF2AK3 mRNAaffects expression 16483693
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide affects the expression of EIF2AK3 mRNAaffects expression 20382639
C006780 bisphenol A bisphenol A results in increased expression of EIF2AK3 mRNAincreases expression 18180321
D002995 Clofibric Acid Clofibric Acid affects the expression of EIF2AK3 mRNAaffects expression 17602206
D016572 Cyclosporine Cyclosporine results in increased expression of EIF2AK3 mRNAincreases expression 20106945
D004229 Dithiothreitol Dithiothreitol results in increased phosphorylation of and results in increased activity of EIF2AK3 proteinincreases activity|increases phosphorylation 12486162
D004958 Estradiol Estradiol results in increased expression of EIF2AK3 mRNAincreases expression 20106945
D016627 Oxidopamine EIF2AK3 protein affects the susceptibility to Oxidopamineaffects response to substance 12486162
D016627 Oxidopamine Oxidopamine results in increased phosphorylation of and results in increased activity of EIF2AK3 proteinincreases activity|increases phosphorylation 12486162
D015655 1-Methyl-4-phenylpyridinium 1-Methyl-4-phenylpyridinium results in increased phosphorylation of and results in increased activity of EIF2AK3 proteinincreases activity|increases phosphorylation 12486162
C008493 methylselenic acid HSPA5 protein inhibits the reaction [methylselenic acid results in increased phosphorylation of EIF2AK3 protein]decreases reaction|increases phosphorylation 16204082
C008493 methylselenic acid methylselenic acid results in increased phosphorylation of and results in increased activity of EIF2AK3 proteinincreases activity|increases phosphorylation 16204082
16205645
D009151 Mustard Gas Mustard Gas results in increased expression of EIF2AK3 mRNAincreases expression 15674844
C055122 orlistat EIF2AK3 gene mutant form results in increased susceptibility to orlistatincreases response to substance 17283163
C055122 orlistat orlistat promotes the reaction [EIF2AK3 protein results in increased phosphorylation of EIF2A protein]increases phosphorylation|increases reaction 17283163
D017239 Paclitaxel EIF2AK3 protein affects the susceptibility to Paclitaxelaffects response to substance 16217747
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of EIF2AK3 mRNAaffects binding|increases activity|increases expression 19710929
C006253 pirinixic acid pirinixic acid results in decreased expression of EIF2AK3 mRNAdecreases expression 17426115
D012402 Rotenone Rotenone results in increased phosphorylation of EIF2AK3 proteinincreases phosphorylation 19233273
D012402 Rotenone Rotenone results in increased phosphorylation of and results in increased activity of EIF2AK3 proteinincreases activity|increases phosphorylation 12486162
D012906 Smoke Smoke results in increased phosphorylation of EIF2AK3 proteinincreases phosphorylation 18206657
C534735 tetraarsenic tetrasulfide tetraarsenic tetrasulfide results in increased expression of EIF2AK3 mRNAincreases expression 19208803
D019284 Thapsigargin EIF2AK3 gene mutant form results in increased susceptibility to Thapsigarginincreases response to substance 17283163
D019284 Thapsigargin Thapsigargin promotes the reaction [EIF2AK3 protein results in increased phosphorylation of EIF2A protein]increases phosphorylation|increases reaction 17283163
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.4718287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.0318653653
MESH:D000230 Adenocarcinoma Estradiol 2.0811473722
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.4016434500
MESH:D000799 Angioedema Acetaminophen 3.7610982225
MESH:D001145 Arrhythmias, Cardiac Amiodarone 3.7218218290 18057881 20041841
MESH:D001249 Asthma Mustard Gas 2.6810378619
MESH:D001281 Atrial Fibrillation Amiodarone 3.8418651412 19698954
MESH:D001289 Attention Deficit Disorder with Hyperactivity Oxidopamine 4.5914699433
MESH:D001321 Autistic Disorder Acetaminophen 1.4318445737
MESH:D001768 Blister Mustard Gas 5.0719167455
MESH:D001778 Blood Coagulation Disorders Amiodarone 8.8119483382
MESH:D001778 Blood Coagulation Disorders pirinixic acid 8.8119483382
MESH:D001859 Bone Neoplasms Paclitaxel 4.4815867366
MESH:D001862 Bone Resorption bisphenol A 3.7811985600
MESH:D001943 Breast Neoplasms bisphenol A 2.0117123778
MESH:D001943 Breast Neoplasms Estradiol 2.0116675129 17289903 17261762 17018787 19861407 18497071 14630087 12948864
MESH:D001943 Breast Neoplasms Paclitaxel 2.0116244791 18223236 16273361 11325840 15136595 18234424 18323546 16115903
MESH:D001989 Bronchiolitis Obliterans Mustard Gas 5.0715286001
MESH:D029481 Bronchitis, Chronic Mustard Gas 4.9017687719 10378619
MESH:D019121 Burkholderia Infections orlistat 6.5617874328
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.3816111702
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.533084413
MESH:D006528 Carcinoma, Hepatocellular Estradiol 4.5316924424
MESH:D006528 Carcinoma, Hepatocellular Paclitaxel 4.5316313753
MESH:D002278 Carcinoma in Situ bisphenol A 4.9017123778
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 2.8615710769 19225199
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.0018974383
MESH:D002386 Cataract Acetaminophen 2.5310977129
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 10.7820889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 10.7812371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 10.7818566989
MESH:D002779 Cholestasis Cyclosporine 7.5419486331
MESH:D002779 Cholestasis pirinixic acid 7.5419176532
MESH:D002916 Chylothorax orlistat 6.5617003701
MESH:D015179 Colorectal Neoplasms Paclitaxel 2.4418802399
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.3818249437
MESH:D048909 Diabetes Complications orlistat 5.7619207292
MESH:D003928 Diabetic Nephropathies Estradiol 3.3319279558
MESH:D003967 Diarrhea orlistat 4.6320002075
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.7914725611 19923254 16227642 11529661 16781746 11743745 16109766 12594235 18071297 15619225 11461765 12540782 19416960 10663392 10915739 19420014 19739265 14550746 16081117 17906064 14986274 2444490 11287661 19164858 12958197 18713872 19085960 12153990 12705907 11739529 16177239 16393943 11834606 10774834 15968718 11421492 19370779 16485898 17522070 12392966 17562736
MESH:D056486 Drug-Induced Liver Injury Amiodarone 3.7915265979 18218290
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.0219426721
MESH:D004487 Edema Mustard Gas 6.6111428631 9260866 11402378 11428647
MESH:D004487 Edema pirinixic acid 6.6112083418
MESH:D016889 Endometrial Neoplasms Estradiol 2.9219148513 11473722 18566989
OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS marker/mechanism
MESH:D004890 Erythema Mustard Gas 5.079357497
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.6020426865
MESH:D004938 Esophageal Neoplasms Paclitaxel 4.6016481741
MESH:D005234 Fatty Liver Amiodarone 12.6214986274
MESH:D005234 Fatty Liver Cyclosporine 12.6219224547
MESH:D005234 Fatty Liver pirinixic acid 12.6220131406 19236843
MESH:D005355 Fibrosis Cyclosporine 3.0612168785 12639820
MESH:D005414 Flatulence orlistat 6.5620002075
MESH:D005756 Gastritis Acetaminophen 3.5916983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.138708960
MESH:D006333 Heart Failure pirinixic acid 2.4820558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.3415720958
MESH:D006529 Hepatomegaly Amiodarone 8.2915265979
MESH:D006529 Hepatomegaly pirinixic acid 8.2918467677 16221962 19772884 19176532
MESH:D006558 Herpes Genitalis Estradiol 4.9515709030
MESH:D019584 Hot Flashes Estradiol 3.6717088409
MESH:D006930 Hyperalgesia Acetaminophen 2.6316870215
MESH:D006937 Hypercholesterolemia Amiodarone 3.798137927 9751232
MESH:D006943 Hyperglycemia pirinixic acid 3.1020558911
MESH:D006949 Hyperlipidemias orlistat 5.0021332399
MESH:D006973 Hypertension Cyclosporine 2.0710903974
MESH:D007037 Hypothyroidism Amiodarone 4.4317991464 18020914
MESH:D007249 Inflammation Mustard Gas 2.7411428647 11428620 16001271 9260866 11428631 8975870 9357497 17524151 11402378
MESH:D007333 Insulin Resistance bisphenol A 17.2416393666
MESH:D007333 Insulin Resistance Estradiol 17.2416393666 16627594
MESH:D007333 Insulin Resistance orlistat 17.2417201808
MESH:D007333 Insulin Resistance pirinixic acid 17.2416306350
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.3615604871
MESH:D007674 Kidney Diseases Acetaminophen 9.6815629191 12587719
MESH:D007674 Kidney Diseases Cyclosporine 9.6818776723 10903974 8314463
MESH:D007674 Kidney Diseases Estradiol 9.6815618244
MESH:C531755 Kidney disorder involving deposition of calcium and oxalate or phosphate in the renal tubules orlistat 6.5617185156
MESH:D007680 Kidney Neoplasms Cyclosporine 7.0312371664
MESH:D007680 Kidney Neoplasms Estradiol 7.0315610895
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive tetraarsenic tetrasulfide 4.9719208803
MESH:D008064 Lipidoses Amiodarone 3.4515342952 17567588
MESH:D008080 Liposarcoma Paclitaxel 4.7417353645
MESH:D008103 Liver Cirrhosis orlistat 4.3017404856
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 2.2714659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.2715474484
MESH:D008107 Liver Diseases Acetaminophen 1.6116610002 19014921 11587558 12969438 19784758 19460945 12587719 16611625
MESH:D017114 Liver Failure, Acute Acetaminophen 3.1617185352 16871587
MESH:D008113 Liver Neoplasms Clofibric Acid 4.5017602206
MESH:D008113 Liver Neoplasms pirinixic acid 4.5020007298 16377806 15890375
MESH:D008133 Long QT Syndrome Amiodarone 3.5111989578 15350150 17391786
MESH:D008171 Lung Diseases Amiodarone 7.4212587719
MESH:D008171 Lung Diseases Mustard Gas 7.4218702808 18161513
MESH:D017563 Lung Diseases, Interstitial Amiodarone 4.4018516814
MESH:D008175 Lung Neoplasms Mustard Gas 3.243148597 8781369
MESH:D008175 Lung Neoplasms Smoke 3.2411091918
MESH:D008207 Lymphatic Metastasis orlistat 5.8020805790 18770866
MESH:D008228 Lymphoma, Non-Hodgkin Paclitaxel 4.0214749477
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.5011408345 11807958 17203775 16891317
MESH:D020149 Manganese Poisoning Estradiol 4.4019453300
MESH:D008545 Melanoma orlistat 4.0418770866 20805790
MESH:D008545 Melanoma Paclitaxel 4.0416342250 12040289 12025231
MESH:D008546 Melanoma, Experimental Acetaminophen 3.4819513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.7116801185
MESH:D009101 Multiple Myeloma Paclitaxel 3.6214749477
MESH:D009135 Muscular Diseases orlistat 10.4518430571
MESH:D009135 Muscular Diseases pirinixic acid 10.4516239165
MESH:D009164 Mycobacterium Infections orlistat 5.4121442799
MESH:D009181 Mycoses Amiodarone 4.8212754197 17974566
MESH:D009203 Myocardial Infarction pirinixic acid 2.1119151258
MESH:D015428 Myocardial Reperfusion Injury Estradiol 8.0216810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 8.0216411023
MESH:D009362 Neoplasm Metastasis Paclitaxel 3.2215867366
MESH:D009369 Neoplasms orlistat 5.3118710210
MESH:D009369 Neoplasms pirinixic acid 5.3117405874
MESH:D009374 Neoplasms, Experimental orlistat 4.9719381703
MESH:D009389 Neovascularization, Pathologic Estradiol 10.2117289903
MESH:D009389 Neovascularization, Pathologic orlistat 10.2117012255
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.3617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.2119348381 18481113
MESH:D009410 Nerve Degeneration 1-Methyl-4-phenylpyridinium 8.9017433543
MESH:D009410 Nerve Degeneration Rotenone 8.9018619942 17356569 15790535
MESH:D009421 Nervous System Malformations bisphenol A 9.4616427766 11399458
MESH:D009421 Nervous System Malformations Estradiol 9.4611399458 16427766
MESH:D019636 Neurodegenerative Diseases 1-Methyl-4-phenylpyridinium 13.9916353238
MESH:D019636 Neurodegenerative Diseases Acetaminophen 13.9918514411
MESH:D019636 Neurodegenerative Diseases Oxidopamine 13.9918514411
MESH:D009503 Neutropenia Mustard Gas 3.8916761898 7688884
MESH:C541083 Non-alcoholic Fatty Liver Disease orlistat 5.4817404856
MESH:D009765 Obesity orlistat 4.9021438711 20065556 20540997 18773755 19461584 19207292 21442799 20002075 20518802 19046740 16938137 20599501
MESH:D009765 Obesity pirinixic acid 4.9020558911
MESH:D010014 Osteolysis Paclitaxel 4.8915867366
MESH:D010049 Ovarian Diseases bisphenol A 4.9011985600
MESH:D010051 Ovarian Neoplasms Estradiol 4.9519401270
MESH:D010051 Ovarian Neoplasms Paclitaxel 4.9511161223
MESH:D010146 Pain Acetaminophen 2.3216870215
MESH:D010195 Pancreatitis orlistat 4.7616938137 20065556
MESH:D010300 Parkinson Disease 1-Methyl-4-phenylpyridinium 5.9617433543
MESH:D010300 Parkinson Disease Rotenone 5.9616412576 19114014 16140633 15451049 18619942 18191903 19232380 11445065 11535288
MESH:D010302 Parkinson Disease, Secondary Oxidopamine 5.3715893579 11771942
MESH:D020734 Parkinsonian Disorders Rotenone 4.0018197244 15795934 15574749 15927086
MESH:D011041 Poisoning Mustard Gas 3.7115727166
MESH:D011085 Polycystic Ovary Syndrome orlistat 5.2117201808
MESH:D011230 Precancerous Conditions Cyclosporine 3.1412371664
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 3.8710548101
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 10.2820887781
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 10.2820887781
MESH:D011471 Prostatic Neoplasms bisphenol A 2.1516740699
MESH:D011471 Prostatic Neoplasms Estradiol 2.1516740699
MESH:D011471 Prostatic Neoplasms methylselenic acid 2.1516205645
MESH:D011471 Prostatic Neoplasms Paclitaxel 2.1516729912 17172428 16356831 17136230
MESH:D011537 Pruritus Mustard Gas 4.0118058305
MESH:D011565 Psoriasis Cyclosporine 2.2016882103
MESH:D011629 Puberty, Precocious bisphenol A 4.7010548101
MESH:D011658 Pulmonary Fibrosis Amiodarone 5.7312490602 12832656 11597910
MESH:D011658 Pulmonary Fibrosis Mustard Gas 5.7317720292 17894541 17620002 17266442 10334151
MESH:D012035 Refsum Disease orlistat 5.9920871815
MESH:D015427 Reperfusion Injury pirinixic acid 2.3419058328
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.0018724381
MESH:D012871 Skin Diseases Mustard Gas 2.6912880345 15451306 16961503
MESH:D013274 Stomach Neoplasms orlistat 3.1919381703
MESH:D013274 Stomach Neoplasms Paclitaxel 3.1918506536 18396642
MESH:D013276 Stomach Ulcer Amiodarone 3.2418087811
MESH:D019966 Substance-Related Disorders bisphenol A 3.9016045194 16684133
MESH:D013610 Tachycardia Amiodarone 4.2011238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.1019225199
MESH:D024801 Tauopathies Paclitaxel 4.7316930453
MESH:D013959 Thyroid Diseases Amiodarone 4.6819731979
MESH:D013971 Thyrotoxicosis Amiodarone 4.7718020914 19584973
MESH:D013978 Tibial Fractures Estradiol 4.6019048282
MESH:D016171 Torsades de Pointes Amiodarone 4.1111989578 17467628
MESH:D014581 Urticaria Acetaminophen 2.8910982225
MESH:D014591 Uterine Diseases bisphenol A 4.9314652134
MESH:D014605 Uveitis Cyclosporine 3.901336536
MESH:D014985 Xerophthalmia Cyclosporine 4.3617120751
Pathway ID Pathway Name
KEGG:05010 Alzheimer's disease
REACT:15380 Diabetes pathways
KEGG:05160 Hepatitis C
KEGG:05162 Measles
KEGG:04141 Protein processing in endoplasmic reticulum
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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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