AutismKB 2.0

Annotation Detail for EXT2


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Basic Information Top
Gene Symbol:EXT2 ( SOTV )
Gene Full Name: exostosin 2
Band: 11p11.2
Quick LinksEntrez ID:2132; OMIM: 608210; Uniprot ID:EXT2_HUMAN; ENSEMBL ID: ENSG00000151348; HGNC ID: 3513
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY-6564heparan sulfate biosynthesis
PWY-6558heparan sulfate biosynthesis (late stages)
Pathway IDPathway Name
hsa00534Glycosaminoglycan biosynthesis - heparan sulfate
hsa01100Metabolic pathways
No data
No data
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Inherited disorders of glycan/glycoprotein metabolism
H00122Multiple exostoses
Genetic disorders
Desease IDDesease Name
1832Congenital abnormality
Desease Name
METABOLIC
Hereditary multiple exostoses
diabetes, type 2
No data
Desease Name
Exostoses, multiple, type 2
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of EXT2 mRNAaffects expression 21346803
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of EXT2 mRNAincreases expression 18648102
D003513 Cycloheximide Cycloheximide inhibits the reaction [Tetrachlorodibenzodioxin results in decreased expression of EXT2 mRNA]decreases expression|decreases reaction 11007951
D004958 Estradiol Estradiol affects the expression of EXT2 mRNAaffects expression 14699072
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of EXT2 mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of EXT2 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of EXT2 mRNAaffects cotreatment|increases expression 17942748
D019812 Heparan Sulfate Proteoglycans EXT2 protein results in increased chemical synthesis of Heparan Sulfate Proteoglycansincreases chemical synthesis 16221725
D012643 Selenium Selenium results in decreased expression of EXT2 mRNAdecreases expression 19244175
D018038 Sodium Selenite Sodium Selenite results in increased expression of EXT2 mRNAincreases expression 18175754
D013629 Tamoxifen Tamoxifen affects the expression of EXT2 mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin Cycloheximide inhibits the reaction [Tetrachlorodibenzodioxin results in decreased expression of EXT2 mRNA]decreases expression|decreases reaction 11007951
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of EXT2 mRNAdecreases expression 11007951
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of EXT2 mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.8114745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.0815322242 11752688 14514962
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2117505938
MESH:D000230 Adenocarcinoma Estradiol 4.3411473722
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.3414692618
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.843712494
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.6116835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1111748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7615885639
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.281440618 11289319
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.2112125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8715746008
MESH:D001943 Breast Neoplasms Estradiol 1.8117289903 18497071 12948864 17261762 16675129 19861407 14630087 17018787
MESH:D001943 Breast Neoplasms Tamoxifen 1.8120065188 11161223 17242785 19084267 18997820 15565566 18629630 20135344 19289846 19115204 18821012 19189210 18425577 19142967 19155303 18815881 19066611 20544844 16818667 16202921 20005174 17893378 18984771 15668708 20390343 16873071 19059307 18855134 19244106 19221464 17049068 21138602 17261762 18351453 21152245 19011961 19200415 19189212 17440819 19410462 19103187 19487384 19288272 16273361 20859285
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8120435547
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.7016111702
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9316835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.7219066611
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 6.7616705839
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 6.767296757 3581430
MESH:D006528 Carcinoma, Hepatocellular Estradiol 6.7616924424
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 6.7616924424
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.757296757
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.7817572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4518670907 16120746 18850075
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 7.047505956
MESH:D002471 Cell Transformation, Neoplastic Estradiol 7.0418566989
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3116835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.289022650 19486331
MESH:D002779 Cholestasis Ethinyl Estradiol 8.2817333356 16919318 11677210 17681005 17110522 16105132 15861022
MESH:D019457 Chromosome Breakage Sodium Selenite 4.9715894690
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1615668235 15340226 12621046 16354765 8697196
MESH:D003092 Colitis Selenium 3.9917936198
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2117141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 10048152 15322242
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.2318551238
MESH:D003711 Demyelinating Diseases Tamoxifen 4.5819031437
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.0112868966 14531868 8156756 11906362 8970840 2524372 11298694 18759878
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.673621924 2952479
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.9316285004
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7017107852
MESH:D003928 Diabetic Nephropathies Estradiol 9.3519279558
MESH:D003928 Diabetic Nephropathies Tamoxifen 9.3519279558
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 12.5121346803 18551238
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 12.5118289764 11289319 9022650 7440962 8291058 16192314 18692083 6679447 9653073 18648102 1440618 6482804 9328219
MESH:D056486 Drug-Induced Liver Injury Selenium 12.5115131321
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 12.5115131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 12.5120420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1718230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.6212538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 9.6219031437
MESH:D016889 Endometrial Neoplasms Estradiol 7.7519148513 11473722 18566989
MESH:D016889 Endometrial Neoplasms Tamoxifen 7.7519155303 17893378 16202921 20544844
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.189294722 10568697
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.143581430
OMIM:133701 EXOSTOSES, MULTIPLE, TYPE II marker/mechanism
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1411564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.2715345470
MESH:D005234 Fatty Liver Tamoxifen 8.2714986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3316709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6711858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.286705139
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.7614745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.4219069698
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.1620067830
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.227505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8610696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4110048152 11294989
MESH:D006333 Heart Failure Selenium 3.1717162251
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5111000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.716705139
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.1115340226 16120746 12621046
MESH:D006558 Herpes Genitalis Estradiol 5.3015709030
MESH:D019584 Hot Flashes Estradiol 4.0217088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.318697196 18606429 15340226 16959395 16354765
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.1515034207
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9618850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0216945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6512013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5917937319
MESH:D007249 Inflammation Tamoxifen 5.1619457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.1612878042 12200463
MESH:D007251 Influenza, Human Selenium 4.4616624496
MESH:D007333 Insulin Resistance Estradiol 7.7916393666 16627594
MESH:D007333 Insulin Resistance Sodium Selenite 7.7914714311
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.288074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5116580747
MESH:D007674 Kidney Diseases Estradiol 2.6715618244
MESH:D007676 Kidney Failure, Chronic Selenium 4.0616518626
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 18.9916705839
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 18.996582329
MESH:D007680 Kidney Neoplasms Estradiol 18.9915610895
MESH:D007680 Kidney Neoplasms Tamoxifen 18.9918625569
MESH:D008064 Lipidoses Tamoxifen 3.2715342952 17567588
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.309327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 3.5314716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 3.5318564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.5312878042
MESH:D008113 Liver Neoplasms Tamoxifen 4.5816684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.5816984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 6.07598648 6587162 3712494 1399818
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.0712151625
MESH:D008175 Lung Neoplasms Tamoxifen 2.2918625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2919555203 11884234
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.2414737004
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.0019428831
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 10.5811408345 11807958 16891317 17203775
MESH:D008325 Mammary Neoplasms, Experimental Selenium 10.5815318939
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 10.5811731420 16827153 14580682 19196723 19196722
MESH:D020149 Manganese Poisoning Estradiol 13.5519453300
MESH:D020149 Manganese Poisoning Tamoxifen 13.5519453300
MESH:D008545 Melanoma Tamoxifen 1.9019393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.4215990972
MESH:D008654 Mesothelioma Selenium 2.8515107826
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1612213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.4116810080
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.0918551238
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 5.903581430
MESH:D009362 Neoplasm Metastasis Tamoxifen 5.9019393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5619410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.2619189210 19196722 19200415
MESH:D009389 Neovascularization, Pathologic Estradiol 3.9717289903
MESH:D009421 Nervous System Malformations Estradiol 10.1411399458 16427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.1414600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.026679447
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 9.4316049721 12819281
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 9.434026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.283988306
MESH:D010051 Ovarian Neoplasms Estradiol 2.2619401270
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8711578682
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.707296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5112520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.736228378
MESH:D010954 Plasmacytoma Selenium 5.1515087411
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7618163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.4311896295 11222880 11118676 11399792
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.0620887781
MESH:D011471 Prostatic Neoplasms Estradiol 2.5316740699
MESH:D011471 Prostatic Neoplasms Sodium Selenite 2.5318760546
MESH:D011471 Prostatic Neoplasms Tamoxifen 2.5315067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.5515861022 16919318
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0418990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.503692021
MESH:D012640 Seizures 2,4-dinitrotoluene 2.6418551238
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1116192470
MESH:D013088 Spermatocele Ethinyl Estradiol 12.4616709447
MESH:D013088 Spermatocele Tamoxifen 12.4616709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.2819457130
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8011994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3015669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1712697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.011399818 6582329 6587162 7505956 3712494
MESH:D013978 Tibial Fractures Estradiol 4.9519048282
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 8.6416049721
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 8.648074119
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 8.648653321 16712894 17572228
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.5510091137
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5014692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8612125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7115869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5115886252
Pathway ID Pathway Name
KEGG:00534 Glycosaminoglycan biosynthesis - heparan sulfate
KEGG:01100 Metabolic pathways
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA27925
    • No data
    Releated disease ID Related disease Name
    PA443890Diabetes Mellitus, Type 2
    No data
    Drug Bank Top

    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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