AutismKB 2.0

Annotation Detail for JAK3


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Basic Information Top
Gene Symbol:JAK3 ( JAK-3,JAK3_HUMAN,JAKL,L-JAK,LJAK )
Gene Full Name: Janus kinase 3
Band: 19p13.11
Quick LinksEntrez ID:3718; OMIM: 600173; Uniprot ID:JAK3_HUMAN; ENSEMBL ID: ENSG00000105639; HGNC ID: 6193
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04630Jak-STAT signaling pathway
hsa05340Primary immunodeficiency
hsa04062Chemokine signaling pathway
Pathway IDPathway Name
Signaling in Immune system
Pathway IDPathway Name
200031CD40/CD40L signaling
200158IL2 signaling events mediated by STAT5
200082IL2-mediated signaling events
200065Signaling events mediated by TCPTP
200099IL2 signaling events mediated by PI3K
200018IL4-mediated signaling events
Pathway IDPathway Name
P00047PDGF signaling pathway
P00038JAK/STAT signaling pathway
P00036Interleukin signaling pathway
No data
Related Diseases/Disorders Top
Desease IDDesease Name
H00091T-B+ Severe combined immunodeficiencies
Immune system diseases
Primary immunodeficiency
Desease IDDesease Name
1770Melanoma
1773Combined immunodeficiency
1848Embryoma
1905Reticulosarcoma
1983Down syndrome
2053Colon cancer
2188Bone marrow disease
2201Myeloproliferative disease
No data
No data
Desease Name
SCID, autosomal recessive, T-negative/B-positive type
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C417207 2,2',4,6,6'-pentachlorobiphenyl 2,2',4,6,6'-pentachlorobiphenyl results in increased phosphorylation of JAK3 proteinincreases phosphorylation 16778083
C417207 2,2',4,6,6'-pentachlorobiphenyl PD168393 inhibits the reaction [2,2',4,6,6'-pentachlorobiphenyl results in increased phosphorylation of JAK3 protein]decreases reaction|increases phosphorylation 16778083
C472791 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in increased expression of JAK3 mRNAincreases expression 16788091
D000082 Acetaminophen Acetaminophen affects the expression of JAK3 mRNAaffects expression 17562736
D003474 Curcumin Curcumin results in decreased activity of JAK3 proteindecreases activity 16932349
D004054 Diethylstilbestrol Diethylstilbestrol results in increased expression of JAK3 mRNAincreases expression 15766595
D004054 Diethylstilbestrol Diethylstilbestrol results in increased expression of JAK3 mRNAincreases expression 15289156
D004958 Estradiol Estradiol results in increased expression of JAK3 mRNAincreases expression 15289156
D005038 Ethylnitrosourea Ethylnitrosourea results in increased mutagenesis of JAK3 geneincreases mutagenesis 16724327
D005419 Flavonoids Flavonoids results in increased expression of JAK3 mRNAincreases expression 18035473
D019833 Genistein Genistein results in increased expression of JAK3 mRNAincreases expression 15289156
C509204 PD168393 PD168393 inhibits the reaction [2,2',4,6,6'-pentachlorobiphenyl results in increased phosphorylation of JAK3 protein]decreases reaction|increases phosphorylation 16778083
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of JAK3 mRNAaffects binding|increases activity|increases expression 19710929
D013629 Tamoxifen Tamoxifen results in increased expression of JAK3 mRNAincreases expression 19031437
C402769 tipifarnib tipifarnib results in increased expression of JAK3 mRNAincreases expression 16403772
C101044 tyrphostin AG 1478 tyrphostin AG 1478 results in decreased phosphorylation of and results in decreased activity of JAK3 proteindecreases activity|decreases phosphorylation 16932349
C116180 WHI P131 WHI P131 results in decreased phosphorylation of and results in decreased activity of JAK3 proteindecreases activity|decreases phosphorylation 16932349
C116180 WHI P131 WHI P131 results in decreased activity of JAK3 proteindecreases activity 14615384
C113888 WHI P154 WHI P154 results in decreased phosphorylation of and results in decreased activity of JAK3 proteindecreases activity|decreases phosphorylation 16932349
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.5814745880
MESH:D055371 Acute Lung Injury pirinixic acid 3.1218653653
MESH:D000230 Adenocarcinoma Estradiol 4.4711473722
MESH:D000230 Adenocarcinoma Genistein 4.4711473722
MESH:D000236 Adenoma Ethylnitrosourea 3.726695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.5016434500
MESH:D019973 Alcohol-Related Disorders Curcumin 5.1117887948
MESH:D000544 Alzheimer Disease Curcumin 2.6215590663
MESH:D000686 Amyloidosis Diethylstilbestrol 4.4915469931
MESH:D000799 Angioedema Acetaminophen 3.8710982225
MESH:D001172 Arthritis, Rheumatoid Curcumin 2.7416807698
MESH:D050197 Atherosclerosis Curcumin 3.3218704882
MESH:D001321 Autistic Disorder Acetaminophen 1.4218445737
MESH:D001327 Autoimmune Diseases Curcumin 4.5019761891
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.1519483382
MESH:D001927 Brain Diseases Ethylnitrosourea 4.8814991843
MESH:D002545 Brain Ischemia Curcumin 4.3516770732
MESH:D001932 Brain Neoplasms Curcumin 9.1517596214
MESH:D001932 Brain Neoplasms Ethylnitrosourea 9.1516651633 15144691 16357521 16436596 18412241
MESH:D001943 Breast Neoplasms Curcumin 2.3518593918 18462866 19250217 16243823
MESH:D001943 Breast Neoplasms Diethylstilbestrol 2.3515324884 17129689
MESH:D001943 Breast Neoplasms Estradiol 2.3516675129 17289903 19861407 12948864 18497071 17261762 17018787 14630087
MESH:D001943 Breast Neoplasms Genistein 2.3516873071 16541309 17200150
MESH:D001943 Breast Neoplasms Tamoxifen 2.3519487384 18351453 16818667 20135344 19244106 19142967 18984771 20544844 17242785 19011961 20005174 18815881 20065188 17440819 19059307 16202921 16273361 15668708 19200415 19189212 17049068 18629630 21138602 18855134 19066611 19189210 19103187 19084267 17261762 15565566 19288272 19115204 19410462 19155303 21152245 17893378 19289846 11161223 18821012 19221464 18997820 20859285 18425577 16873071 20390343
MESH:D016535 Bronchial Hyperreactivity tyrphostin AG 1478 4.8912794006
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.4816111702
MESH:D002277 Carcinoma Curcumin 3.8418593918
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.5219066611
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 8.883084413
MESH:D006528 Carcinoma, Hepatocellular Diethylstilbestrol 8.8815948411 16924424
MESH:D006528 Carcinoma, Hepatocellular Estradiol 8.8816924424
MESH:D006528 Carcinoma, Hepatocellular Genistein 8.8816924424
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 8.8816924424
MESH:D002289 Carcinoma, Non-Small-Cell Lung Curcumin 2.9818414057
MESH:D002294 Carcinoma, Squamous Cell Curcumin 2.7618462866
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.6217572228
MESH:D002318 Cardiovascular Diseases Genistein 3.3016332659
MESH:D002386 Cataract Acetaminophen 2.5810977129
MESH:D002471 Cell Transformation, Neoplastic Estradiol 7.0218566989
MESH:D002471 Cell Transformation, Neoplastic Ethylnitrosourea 7.0216003739
MESH:D016543 Central Nervous System Neoplasms Ethylnitrosourea 6.0117160924
MESH:D002779 Cholestasis pirinixic acid 2.8319176532
MESH:D003092 Colitis Curcumin 4.1916804969 18200517 16782535
MESH:D003103 Coloboma Curcumin 4.5518809619
MESH:D003110 Colonic Neoplasms Curcumin 3.9516340194 19359593
MESH:D003110 Colonic Neoplasms Genistein 3.9517182828
MESH:D016510 Corneal Neovascularization Curcumin 4.9118497527
MESH:D003456 Cryptorchidism Diethylstilbestrol 4.5716002989 12952375
MESH:D003711 Demyelinating Diseases Tamoxifen 4.3819031437
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4318249437
MESH:D003924 Diabetes Mellitus, Type 2 Curcumin 4.7118403477
MESH:D003924 Diabetes Mellitus, Type 2 Genistein 4.7116647724
MESH:D003928 Diabetic Nephropathies Curcumin 15.0518204486
MESH:D003928 Diabetic Nephropathies Estradiol 15.0519279558
MESH:D003928 Diabetic Nephropathies Tamoxifen 15.0519279558
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.5911743745 10915739 12392966 19416960 16393943 12958197 12594235 16177239 17562736 14986274 16485898 16227642 19370779 16109766 19164858 17906064 14550746 17522070 10774834 16781746 11739529 18713872 10663392 12705907 19923254 16081117 15619225 15968718 12540782 11421492 19420014 19739265 2444490 11461765 11529661 19085960 12153990 11834606 18071297 11287661 14725611
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.1319426721
MESH:D004381 Duodenal Ulcer Curcumin 4.0617351913
MESH:D004476 Ectodermal Dysplasia Ethylnitrosourea 6.0118357618
MESH:D004487 Edema pirinixic acid 2.4912083418
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 3.5519031437
MESH:D004714 Endometrial Hyperplasia Diethylstilbestrol 11.9616402032
MESH:D004714 Endometrial Hyperplasia Genistein 11.9616402032
MESH:D016889 Endometrial Neoplasms Diethylstilbestrol 17.8215700306 16804899
MESH:D016889 Endometrial Neoplasms Estradiol 17.8219148513 11473722 18566989
MESH:D016889 Endometrial Neoplasms Genistein 17.8211473722
MESH:D016889 Endometrial Neoplasms Tamoxifen 17.8216202921 17893378 20544844 19155303
MESH:D005234 Fatty Liver Curcumin 13.1919297423
MESH:D005234 Fatty Liver pirinixic acid 13.1919236843 20131406
MESH:D005234 Fatty Liver Tamoxifen 13.1914986274 19224547
MESH:D052776 Female Urogenital Diseases Diethylstilbestrol 8.2216002989 16513791 15751030 16534752 16611131
MESH:D052776 Female Urogenital Diseases Tamoxifen 8.2216709447
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.5514745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.2019069698
MESH:D005355 Fibrosis Curcumin 4.0018705752
MESH:D005756 Gastritis Acetaminophen 3.7116983495
MESH:D005770 Gastrointestinal Neoplasms Curcumin 4.7118462866
MESH:D005833 Genital Neoplasms, Female Diethylstilbestrol 4.9716452187
MESH:D005909 Glioblastoma Curcumin 12.0717596214
MESH:D005909 Glioblastoma Ethylnitrosourea 12.0716436596
MESH:D005909 Glioblastoma Genistein 12.0716598420
MESH:D005910 Glioma Ethylnitrosourea 3.4918412241 16357521 16651633
MESH:D006258 Head and Neck Neoplasms Curcumin 3.6618829502 18462866
MESH:D006333 Heart Failure pirinixic acid 2.5420558911
MESH:D006529 Hepatomegaly pirinixic acid 3.0119176532 16221962 19772884 18467677
MESH:D015417 Hereditary Sensory and Motor Neuropathy Curcumin 5.0517701891
MESH:D006558 Herpes Genitalis Estradiol 5.0615709030
MESH:D019584 Hot Flashes Estradiol 3.7817088409
MESH:D006930 Hyperalgesia Acetaminophen 2.7016870215
MESH:D006937 Hypercholesterolemia Curcumin 4.0618704882
MESH:D006943 Hyperglycemia pirinixic acid 3.1920558911
MESH:D006965 Hyperplasia Diethylstilbestrol 4.4514722030 12960047
MESH:D007021 Hypospadias Diethylstilbestrol 4.5916002989
MESH:D007246 Infertility Diethylstilbestrol 4.3615036965
MESH:D007249 Inflammation Curcumin 8.4518403477 16956363 17151092
MESH:D007249 Inflammation Flavonoids 8.4517296493
MESH:D007249 Inflammation Tamoxifen 8.4519457130
MESH:D015212 Inflammatory Bowel Diseases Curcumin 3.2118200517 18596194
MESH:D007333 Insulin Resistance Estradiol 7.2016393666 16627594
MESH:D007333 Insulin Resistance pirinixic acid 7.2016306350
MESH:D007414 Intestinal Neoplasms Curcumin 4.2210783313
MESH:D007674 Kidney Diseases Acetaminophen 5.8915629191 12587719
MESH:D007674 Kidney Diseases Estradiol 5.8915618244
MESH:D007680 Kidney Neoplasms Diethylstilbestrol 17.8516762066 15003126 14681315
MESH:D007680 Kidney Neoplasms Estradiol 17.8515610895
MESH:D007680 Kidney Neoplasms Ethylnitrosourea 17.8517379185
MESH:D007680 Kidney Neoplasms Tamoxifen 17.8518625569
MESH:D007859 Learning Disorders Diethylstilbestrol 4.0717184923
MESH:D007889 Leiomyoma Curcumin 4.5818555241
MESH:D007938 Leukemia Curcumin 6.5918462866
MESH:D007938 Leukemia Genistein 6.5918980019 17468513
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell Curcumin 4.2116106398
MESH:D015458 Leukemia, T-Cell Curcumin 4.7716106398
MESH:D008064 Lipidoses Tamoxifen 3.1615342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental Curcumin 6.7518006644 18705752 17355460
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 6.7514659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental Genistein 6.7517823541
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 6.7515474484
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 6.7518564211
MESH:D008107 Liver Diseases Acetaminophen 4.1011587558 19014921 12587719 12969438 16611625 19784758 19460945 16610002
MESH:D008107 Liver Diseases Curcumin 4.1016956363
MESH:D017114 Liver Failure, Acute Acetaminophen 3.2416871587 17185352
MESH:D008113 Liver Neoplasms Diethylstilbestrol 7.4616712894 15890375
MESH:D008113 Liver Neoplasms pirinixic acid 7.4620007298 16377806 15890375
MESH:D008113 Liver Neoplasms Tamoxifen 7.4616684651
MESH:D008175 Lung Neoplasms Curcumin 5.0119359593 16243823 18462866
MESH:D008175 Lung Neoplasms Ethylnitrosourea 5.0116271038 6695378 16019985 17703301
MESH:D008175 Lung Neoplasms Tamoxifen 5.0118625569
MESH:D008175 Lung Neoplasms tipifarnib 5.0116885199
MESH:D008181 Lupus Nephritis Diethylstilbestrol 5.1715166399
MESH:D008223 Lymphoma Curcumin 12.7418462866
MESH:D008223 Lymphoma Diethylstilbestrol 12.7415700306
MESH:D008223 Lymphoma Ethylnitrosourea 12.7415790496
MESH:D016399 Lymphoma, T-Cell Curcumin 11.7916173963
MESH:D016399 Lymphoma, T-Cell Ethylnitrosourea 11.7915375218
MESH:D052801 Male Urogenital Diseases Diethylstilbestrol 5.5516002989
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 3.7819428831
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 18.8911408345 11807958 17203775 16891317
MESH:D008325 Mammary Neoplasms, Experimental Ethylnitrosourea 18.8910767621 10838139 18041768
MESH:D008325 Mammary Neoplasms, Experimental Genistein 18.8914578162 12929590
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 18.8916827153 11731420 19196723 14580682 19196722
MESH:D008325 Mammary Neoplasms, Experimental tipifarnib 18.8916648579
MESH:D020149 Manganese Poisoning Estradiol 12.7519453300
MESH:D020149 Manganese Poisoning Tamoxifen 12.7519453300
MESH:D008545 Melanoma Curcumin 3.4618462866 17885582
MESH:D008545 Melanoma Tamoxifen 3.4619393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.2015990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.5819513568
MESH:D008569 Memory Disorders Curcumin 4.1617263510
MESH:D008579 Meningioma Ethylnitrosourea 6.0117943659
MESH:D009101 Multiple Myeloma Curcumin 3.5119372569
MESH:D009134 Muscular Atrophy, Spinal Curcumin 4.9417962980
MESH:D009135 Muscular Diseases pirinixic acid 3.5216239165
MESH:D009203 Myocardial Infarction Genistein 5.6817141266
MESH:D009203 Myocardial Infarction pirinixic acid 5.6819151258
MESH:D015428 Myocardial Reperfusion Injury Estradiol 14.1816810080
MESH:D015428 Myocardial Reperfusion Injury Genistein 14.1817141266
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 14.1816411023
MESH:D009361 Neoplasm Invasiveness Curcumin 4.3818495463
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.5519393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5219410462
MESH:D009369 Neoplasms Diethylstilbestrol 5.0415313581
MESH:D009369 Neoplasms pirinixic acid 5.0417405874
MESH:D009374 Neoplasms, Experimental Ethylnitrosourea 4.4116707424
MESH:D009376 Neoplasms, Hormone-Dependent Curcumin 10.9412497104
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 10.9419189210 19196722 19200415
MESH:D009389 Neovascularization, Pathologic Estradiol 3.7517289903
MESH:D009421 Nervous System Malformations Diethylstilbestrol 16.5511399458
MESH:D009421 Nervous System Malformations Estradiol 16.5516427766 11399458
MESH:D009421 Nervous System Malformations Genistein 16.5516427766
MESH:D009423 Nervous System Neoplasms Curcumin 5.6618462866
MESH:D009442 Neurilemmoma Ethylnitrosourea 5.4416651423 16003739 17160924
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.8718514411
MESH:D009765 Obesity Curcumin 4.6019297423
MESH:D009765 Obesity pirinixic acid 4.6020558911
MESH:D009837 Oligodendroglioma Ethylnitrosourea 6.0117160924
MESH:D010024 Osteoporosis Curcumin 7.3618719352
MESH:D010024 Osteoporosis Genistein 7.3619401787
MESH:D015663 Osteoporosis, Postmenopausal Genistein 4.0916169203
MESH:D010051 Ovarian Neoplasms Curcumin 7.9719020741 18462866
MESH:D010051 Ovarian Neoplasms Estradiol 7.9719401270
MESH:D010051 Ovarian Neoplasms Genistein 7.9719005980
MESH:D010146 Pain Acetaminophen 2.3916870215
MESH:D010190 Pancreatic Neoplasms Curcumin 2.9317440100 19401701 19196508
MESH:D010900 Pituitary Diseases Diethylstilbestrol 5.2014722030
MESH:D010911 Pituitary Neoplasms Diethylstilbestrol 4.6815687265 16977796
MESH:D011297 Prenatal Exposure Delayed Effects Diethylstilbestrol 4.1317184923
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 3.8920887781
MESH:D011471 Prostatic Neoplasms Curcumin 1.8711398177 10851300 18769126 18226269 18156803 12497104 15129424
MESH:D011471 Prostatic Neoplasms Diethylstilbestrol 1.8717136230 15846301 15046698
MESH:D011471 Prostatic Neoplasms Estradiol 1.8716740699
MESH:D011471 Prostatic Neoplasms Genistein 1.8716925846 15256057 15378649
MESH:D011471 Prostatic Neoplasms Tamoxifen 1.8715067354
MESH:D011656 Pulmonary Emphysema Curcumin 4.5319168576
MESH:D015427 Reperfusion Injury pirinixic acid 2.3919058328
MESH:D012128 Respiratory Distress Syndrome, Adult Curcumin 4.0318379247 10666014
MESH:D012509 Sarcoma Curcumin 4.1218462866
MESH:D018805 Sepsis Curcumin 4.0818389075
MESH:D013088 Spermatocele Diethylstilbestrol 11.9516002989 16709447
MESH:D013088 Spermatocele Tamoxifen 11.9516709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.0619457130
MESH:D013276 Stomach Ulcer Curcumin 3.5016631530 19188055
MESH:D013953 Thymus Neoplasms Ethylnitrosourea 5.1815790496
MESH:D013978 Tibial Fractures Estradiol 4.7219048282
MESH:D001749 Urinary Bladder Neoplasms Curcumin 8.4418593936
MESH:D001749 Urinary Bladder Neoplasms Diethylstilbestrol 8.4416452187 16712894 17306315
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 8.4416712894 8653321 17572228
MESH:D014565 Urogenital Neoplasms Curcumin 5.2818462866
MESH:D014581 Urticaria Acetaminophen 2.9810982225
MESH:D002583 Uterine Cervical Neoplasms Diethylstilbestrol 4.0416175088
MESH:D014591 Uterine Diseases Diethylstilbestrol 5.2014652134
MESH:D014594 Uterine Neoplasms Diethylstilbestrol 4.0815809267 16690809
MESH:D014625 Vaginal Neoplasms Diethylstilbestrol 4.4516002989 16513791
Pathway ID Pathway Name
KEGG:04062 Chemokine signaling pathway
KEGG:04630 Jak-STAT signaling pathway
KEGG:05162 Measles
KEGG:05340 Primary immunodeficiency
REACT:6900 Signaling in Immune system
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB04716 - 2-(1,1-DIMETHYLETHYL)9-FLUORO-3,6-DIHYDRO-7H-BENZ[H]-IMIDAZ[4,5-F]ISOQUINOLIN-7-ONE
DB08183 - 3-{(3R,4R)-4-methyl-3-[methyl(7H-pyrrolo[2,3-d]pyrimidin-4-yl)amino]piperidin-1-yl}-3-oxopropanenitrile
No data
No data
No data

Simple Query:


  (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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