AutismKB 2.0

Annotation Detail for SOX2


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Basic Information Top
Gene Symbol:SOX2 ( ANOP3,MCOPS3,MGC2413 )
Gene Full Name: SRY (sex determining region Y)-box 2
Band: 3q26.33
Quick LinksEntrez ID:6657; OMIM: 184429; Uniprot ID:SOX2_HUMAN; ENSEMBL ID: ENSG00000181449; HGNC ID: 11195
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1832Congenital abnormality
1865Hyperopia
1934Cancer
1978Cholestasis
No data
No data
Desease Name
Optic nerve hypoplasia and abnormalities of the central nervous system
Microphthalmia, syndromic 3
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C006780 bisphenol A bisphenol A results in decreased expression of SOX2 mRNAdecreases expression 16474171
D003035 Cobalt [tungsten carbide binds to Cobalt] which results in decreased expression of SOX2 mRNAaffects binding|decreases expression 20105288
C018021 cobaltous chloride cobaltous chloride results in decreased expression of SOX2 mRNAdecreases expression 20105288
D004054 Diethylstilbestrol Diethylstilbestrol results in decreased expression of SOX2 mRNAdecreases expression 17005392
D004958 Estradiol Estradiol results in decreased expression of SOX2 mRNAdecreases expression 16474171
D005480 Flurbiprofen Flurbiprofen results in increased expression of SOX2 mRNAincreases expression 16949054
D019833 Genistein Genistein results in decreased expression of SOX2 mRNAdecreases expression 16474171
C031721 naphthalene naphthalene results in increased expression of SOX2 proteinincreases expression 16239640
D011078 Polychlorinated Biphenyls Polychlorinated Biphenyls analog results in decreased expression of SOX2 mRNAdecreases expression 16474171
D012643 Selenium Selenium results in increased expression of SOX2 proteinincreases expression 18583539
C020806 tetrabromobisphenol A tetrabromobisphenol A affects the expression of SOX2 mRNAaffects expression 18976794
D014212 Tretinoin NR6A1 protein affects the reaction [Tretinoin results in decreased expression of SOX2 mRNA]affects reaction|decreases expression 16166633
C002802 tungsten carbide [tungsten carbide binds to Cobalt] which results in decreased expression of SOX2 mRNAaffects binding|decreases expression 20105288
C034028 vanadyl sulfate vanadyl sulfate results in decreased expression of SOX2 mRNAdecreases expression 16330358
C025643 vinclozolin vinclozolin results in decreased expression of SOX2 mRNAdecreases expression 18042343
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma Estradiol 4.4911473722
MESH:D000230 Adenocarcinoma Genistein 4.4911473722
MESH:D011125 Adenomatous Polyposis Coli Flurbiprofen 5.0910680582
MESH:D000505 Alopecia Tretinoin 3.6415955085
MESH:D000686 Amyloidosis Diethylstilbestrol 4.5215469931
MESH:D000853 Anophthalmos marker/mechanism 21532573
MESH:D001008 Anxiety Disorders vinclozolin 3.6619015723
MESH:D001169 Arthritis, Experimental Tretinoin 3.0916412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.2716292516
MESH:D001249 Asthma Tretinoin 2.3516456186
MESH:D001471 Barrett Esophagus Tretinoin 4.4416935849
MESH:D001778 Blood Coagulation Disorders Tretinoin 3.6416197459 16206674
MESH:D001862 Bone Resorption bisphenol A 3.8911985600
MESH:D001943 Breast Neoplasms bisphenol A 2.9917123778
MESH:D001943 Breast Neoplasms Cobalt 2.9915986119
MESH:D001943 Breast Neoplasms Diethylstilbestrol 2.9917129689 15324884
MESH:D001943 Breast Neoplasms Estradiol 2.9917018787 12948864 19861407 16675129 14630087 17289903 18497071 17261762
MESH:D001943 Breast Neoplasms Genistein 2.9917200150 16541309 16873071
MESH:D001943 Breast Neoplasms Tretinoin 2.9916443354 16873071 16166294
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.6416813970
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.5116111702
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.2216168501
MESH:D006528 Carcinoma, Hepatocellular Diethylstilbestrol 6.6516924424 15948411
MESH:D006528 Carcinoma, Hepatocellular Estradiol 6.6516924424
MESH:D006528 Carcinoma, Hepatocellular Genistein 6.6516924424
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 6.651917145
MESH:D002278 Carcinoma in Situ bisphenol A 5.0417123778
MESH:D002294 Carcinoma, Squamous Cell marker/mechanism 19801978
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 2.3016096774 16051514
MESH:D002318 Cardiovascular Diseases Genistein 3.3216332659
MESH:D002386 Cataract Tretinoin 3.1117460283
MESH:D002471 Cell Transformation, Neoplastic Estradiol 2.7918566989
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 4.6416129372
MESH:D002822 Choriocarcinoma Tretinoin 5.2216461808
MESH:D002972 Cleft Palate Tretinoin 2.689407595
MESH:D003092 Colitis Selenium 9.6417936198
MESH:D003092 Colitis Tretinoin 9.6417035595
MESH:D003110 Colonic Neoplasms Genistein 2.2917182828
MESH:D015179 Colorectal Neoplasms Polychlorinated Biphenyls 2.7315531428
MESH:D019465 Craniofacial Abnormalities Tretinoin 1.828800419 16925845 9664655 9211117 10589399 9142499 9125849 9224671 14991402 17551590
MESH:D003456 Cryptorchidism Diethylstilbestrol 11.4912952375 16002989
MESH:D003456 Cryptorchidism vinclozolin 11.4914966744
MESH:D003704 Dementia Polychlorinated Biphenyls 4.7316140633
MESH:D017449 Dermatitis, Allergic Contact cobaltous chloride 4.0716823706 15059100 11298694
MESH:D003921 Diabetes Mellitus, Experimental vanadyl sulfate 4.3916684804
MESH:D003924 Diabetes Mellitus, Type 2 Genistein 2.4916647724
MESH:D003928 Diabetic Nephropathies Estradiol 3.4419279558
MESH:D056486 Drug-Induced Liver Injury Selenium 2.1815131321
MESH:D004489 Edema, Cardiac Tretinoin 4.5318230668
MESH:D004714 Endometrial Hyperplasia Diethylstilbestrol 12.0616402032
MESH:D004714 Endometrial Hyperplasia Genistein 12.0616402032
MESH:D016889 Endometrial Neoplasms Diethylstilbestrol 17.9515700306 16804899
MESH:D016889 Endometrial Neoplasms Estradiol 17.9519148513 11473722 18566989
MESH:D016889 Endometrial Neoplasms Genistein 17.9511473722
MESH:D016889 Endometrial Neoplasms Tretinoin 17.9516569247
MESH:D004938 Esophageal Neoplasms marker/mechanism 19801978
MESH:D005124 Eye Abnormalities Tretinoin 3.6016938888 9664655
MESH:D052776 Female Urogenital Diseases Diethylstilbestrol 3.6716611131 16534752 15751030 16513791 16002989
MESH:D005355 Fibrosis Tretinoin 3.5517994277
MESH:D030342 Genetic Diseases, Inborn vinclozolin 4.9816973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.3616417039
MESH:D005833 Genital Neoplasms, Female Diethylstilbestrol 5.0016452187
MESH:D005909 Glioblastoma Genistein 7.2716598420
MESH:D005909 Glioblastoma Tretinoin 7.2717312396
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.2016096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.2216084493
MESH:D006330 Heart Defects, Congenital Tretinoin 2.919664655 14991402
MESH:D006333 Heart Failure Selenium 3.0917162251
MESH:D006558 Herpes Genitalis Estradiol 5.0915709030
MESH:D019584 Hot Flashes Estradiol 3.8117088409
MESH:D006930 Hyperalgesia Tretinoin 3.2316870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.6116778211
MESH:D006965 Hyperplasia Diethylstilbestrol 4.4814722030 12960047
MESH:D006973 Hypertension Cobalt 3.9217039479
MESH:D007021 Hypospadias Diethylstilbestrol 4.6216002989
MESH:D007246 Infertility Diethylstilbestrol 4.3915036965
MESH:D007248 Infertility, Male vinclozolin 3.0616467254
MESH:D007249 Inflammation Flurbiprofen 3.7911099482
MESH:D007251 Influenza, Human Selenium 4.2616624496
MESH:D007333 Insulin Resistance bisphenol A 7.5016393666
MESH:D007333 Insulin Resistance Estradiol 7.5016393666 16627594
MESH:D007410 Intestinal Diseases Tretinoin 3.8117994277
MESH:D007569 Jaw Abnormalities Tretinoin 3.9315992940 17551590
MESH:D007674 Kidney Diseases Estradiol 2.6015618244
MESH:D007676 Kidney Failure, Chronic Selenium 3.9116518626
MESH:D007680 Kidney Neoplasms Diethylstilbestrol 7.6216762066 14681315 15003126
MESH:D007680 Kidney Neoplasms Estradiol 7.6215610895
MESH:D007859 Learning Disorders Diethylstilbestrol 4.1017184923
MESH:D007938 Leukemia Genistein 6.4618980019 17468513
MESH:D007938 Leukemia Tretinoin 6.4617143497
MESH:D007951 Leukemia, Myeloid Tretinoin 3.7316932348 16482212 19285840
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.0817596541 16294345 19850784
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.1716935935 17361223 16766008 17294898 16140955 16788101 17506722 17649720 19642359 19075265 16331271 9834237 15748426 16891316 12679006 16823087 17339181 19225113 17712046 17107899 17217047 19035177 17301526 19029980 17368321
MESH:D007984 Leydig Cell Tumor vinclozolin 4.7816417039
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.339224671
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 3.5714716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental Genistein 3.5717823541
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 3.5718397230 16248980
MESH:D008113 Liver Neoplasms Diethylstilbestrol 2.6515890375 16712894
MESH:D008114 Liver Neoplasms, Experimental Polychlorinated Biphenyls 3.621423854
MESH:D008173 Lung Diseases, Obstructive Cobalt 5.906434250
MESH:D055370 Lung Injury naphthalene 5.066834280
MESH:D008175 Lung Neoplasms marker/mechanism 19801978
MESH:D008181 Lupus Nephritis Diethylstilbestrol 5.2015166399
MESH:D008223 Lymphoma Diethylstilbestrol 3.4915700306
MESH:D052801 Male Urogenital Diseases Diethylstilbestrol 5.5816002989
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 10.1117203775 11807958 11408345 16891317
MESH:D008325 Mammary Neoplasms, Experimental Genistein 10.1114578162 12929590
MESH:D008325 Mammary Neoplasms, Experimental Selenium 10.1115318939
MESH:D020149 Manganese Poisoning Estradiol 4.5519453300
MESH:D008527 Medulloblastoma Tretinoin 2.7917453147
MESH:D008545 Melanoma Tretinoin 1.9516752155
MESH:D008591 Meningomyelocele Tretinoin 4.4716940565
MESH:D008654 Mesothelioma Selenium 2.8015107826
OMIM:206900 MICROPHTHALMIA, SYNDROMIC 3 marker/mechanism
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.0917596541
MESH:D009203 Myocardial Infarction Genistein 2.8717141266
MESH:D015428 Myocardial Reperfusion Injury Estradiol 8.5816810080
MESH:D015428 Myocardial Reperfusion Injury Genistein 8.5817141266
MESH:D009369 Neoplasms Diethylstilbestrol 5.2515313581
MESH:D009369 Neoplasms Tretinoin 5.2516594593 16946489
MESH:D009389 Neovascularization, Pathologic Estradiol 3.7817289903
MESH:D009421 Nervous System Malformations bisphenol A 31.2016427766 11399458
MESH:D009421 Nervous System Malformations Diethylstilbestrol 31.2011399458
MESH:D009421 Nervous System Malformations Estradiol 31.2016427766 11399458
MESH:D009421 Nervous System Malformations Genistein 31.2016427766
MESH:D009421 Nervous System Malformations Tretinoin 31.209125849
MESH:D009436 Neural Tube Defects Tretinoin 3.079142499
MESH:D010024 Osteoporosis Genistein 3.2719401787
MESH:D015663 Osteoporosis, Postmenopausal Genistein 4.1216169203
MESH:D010049 Ovarian Diseases bisphenol A 5.0411985600
MESH:D010051 Ovarian Neoplasms Estradiol 7.9519401270
MESH:D010051 Ovarian Neoplasms Genistein 7.9519005980
MESH:D010051 Ovarian Neoplasms Tretinoin 7.9516936753
MESH:D010146 Pain Tretinoin 2.9216870215
MESH:D010190 Pancreatic Neoplasms Tretinoin 2.4715976015
MESH:D010300 Parkinson Disease Polychlorinated Biphenyls 3.4016702228
MESH:D010900 Pituitary Diseases Diethylstilbestrol 5.2314722030
MESH:D010911 Pituitary Neoplasms Diethylstilbestrol 4.7115687265 16977796
MESH:D010954 Plasmacytoma Selenium 4.9515087411
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 16.6910548101
MESH:D011297 Prenatal Exposure Delayed Effects Diethylstilbestrol 16.6917184923
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 16.6918220299 19015723 18042343
MESH:D011469 Prostatic Diseases vinclozolin 4.9818220299
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 10.6520887781
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 10.6520887781
MESH:D011471 Prostatic Neoplasms bisphenol A 1.9116740699
MESH:D011471 Prostatic Neoplasms Diethylstilbestrol 1.9117136230 15846301 15046698
MESH:D011471 Prostatic Neoplasms Estradiol 1.9116740699
MESH:D011471 Prostatic Neoplasms Flurbiprofen 1.9117409433
MESH:D011471 Prostatic Neoplasms Genistein 1.9116925846 15256057 15378649
MESH:D011471 Prostatic Neoplasms Polychlorinated Biphenyls 1.9115721890
MESH:D011472 Prostatitis vinclozolin 4.9818629315
MESH:D011507 Proteinuria Tretinoin 3.6416636307
MESH:D011625 Pterygium Tretinoin 4.8416723453
MESH:D011629 Puberty, Precocious bisphenol A 4.8410548101
MESH:D011658 Pulmonary Fibrosis Cobalt 4.016434250
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.1316283617 16116481
MESH:D012878 Skin Neoplasms Tretinoin 2.6216467112
MESH:D013088 Spermatocele Diethylstilbestrol 4.7716709447 16002989
MESH:D013274 Stomach Neoplasms Tretinoin 1.8017261132
MESH:D019966 Substance-Related Disorders bisphenol A 4.0316045194 16684133
MESH:D013964 Thyroid Neoplasms Tretinoin 3.0517045167 16026305
MESH:D013978 Tibial Fractures Estradiol 4.7519048282
MESH:D014062 Tongue Neoplasms Tretinoin 3.8116051514
MESH:D014376 Tuberculosis Tretinoin 3.2416040207
MESH:D001749 Urinary Bladder Neoplasms Diethylstilbestrol 2.7816452187 16712894 17306315
MESH:D002583 Uterine Cervical Neoplasms Diethylstilbestrol 9.6016175088
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 9.6016129372
MESH:D014591 Uterine Diseases bisphenol A 14.0314652134
MESH:D014591 Uterine Diseases Diethylstilbestrol 14.0314652134
MESH:D014594 Uterine Neoplasms Diethylstilbestrol 4.1016690809 15809267
MESH:D014604 Uveal Neoplasms Tretinoin 4.6716752155
MESH:D014625 Vaginal Neoplasms Diethylstilbestrol 4.4816513791 16002989
MESH:D014820 Vitiligo Tretinoin 4.0916761959
MESH:D009396 Wilms Tumor Tretinoin 3.9916287080
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA36032
    • No data
    Releated disease ID Related disease Name
    PA443401Aphakia
    No data
    Drug Bank Top

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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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