AutismKB 2.0

Annotation Detail for EPN2


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Basic Information Top
Gene Symbol:EPN2 ( EHB21,KIAA1065 )
Gene Full Name: epsin 2
Band: 17p11.2
Quick LinksEntrez ID:22905; OMIM: 607263; Uniprot ID:EPN2_HUMAN; ENSEMBL ID: ENSG00000072134; HGNC ID: 18639
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C021296 2-ethoxyethanol 2-ethoxyethanol results in increased expression of EPN2 mRNAincreases expression 19643169
D000082 Acetaminophen Acetaminophen affects the expression of EPN2 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of EPN2 mRNAaffects expression 16483693
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of EPN2 mRNAaffects cotreatment|increases expression 17183730
C005219 methyl cellosolve methyl cellosolve results in increased expression of EPN2 mRNAincreases expression 19643169
D012643 Selenium Selenium results in increased expression of EPN2 mRNAincreases expression 19244175
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of EPN2 mRNAdecreases expression 18691609
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of EPN2 mRNAaffects cotreatment|increases expression 17183730
C025643 vinclozolin vinclozolin affects the expression of EPN2 mRNAaffects expression 19015723
D014810 Vitamin E Vitamin E results in increased expression of EPN2 mRNAincreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced 2-ethoxyethanol 22.577151721 6499823 6499796 6499820 6499812
MESH:D000014 Abnormalities, Drug-Induced methyl cellosolve 22.576499812 3652986 6474471
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 22.5715322242 11752688 14514962
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 22.578875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.1019490988
MESH:D000138 Acidosis Ammonium Chloride 3.8018287403
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.6116835633
MESH:D000550 Amblyopia Valproic Acid 5.5017688650
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1111748828
MESH:D000748 Anemia, Macrocytic methyl cellosolve 6.613699323
MESH:D000799 Angioedema Acetaminophen 4.1110982225
MESH:D001008 Anxiety Disorders Valproic Acid 9.3217497229
MESH:D001008 Anxiety Disorders vinclozolin 9.3219015723
MESH:D053627 Asthenozoospermia 2-ethoxyethanol 13.4110689203 6499807 6499823
MESH:D053627 Asthenozoospermia methyl cellosolve 13.413987992
MESH:D001259 Ataxia 2-ethoxyethanol 5.647151721
MESH:D001284 Atrophy 2-ethoxyethanol 12.086499799 15850284
MESH:D001284 Atrophy methyl cellosolve 12.083699323 6705890 2626667
MESH:D001321 Autistic Disorder Acetaminophen 1.8618445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8617157402 18940202 16609825 15238991 18775368 20603192 17688650 18316065 19232924 18985861 18177632 18558336 19460635 17507914 18396377
MESH:D053713 Azoospermia 2-ethoxyethanol 5.796492198 6499807
MESH:D001714 Bipolar Disorder Valproic Acid 3.1517594078 20046352
MESH:D001724 Birth Weight 2-ethoxyethanol 6.786499823 2884743
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.2112125929
MESH:D001836 Body Weight Changes 2-ethoxyethanol 12.936499796 7151721
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 12.9315340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 8.3715746008
MESH:D001848 Bone Diseases, Developmental Valproic Acid 8.378888407
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6920435547
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.1516050911
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9316835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.393084413
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4518850075 18670907 16120746
MESH:D002386 Cataract Acetaminophen 2.6710977129
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7620734317
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3116835633
MESH:D002764 Cholecystitis 2-ethoxyethanol 14.566499794
MESH:D002764 Cholecystitis methyl cellosolve 14.566499794
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.168697196 16354765 15340226 15668235 12621046
MESH:D003092 Colitis Selenium 3.9917936198
MESH:D000013 Congenital Abnormalities methyl cellosolve 9.9412530607 6499821
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 9.9417141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 3.8615322242 10048152 20055451
MESH:D019465 Craniofacial Abnormalities Valproic Acid 3.8617688650 16575769 8888407
MESH:D019465 Craniofacial Abnormalities Vitamin E 3.8619769572
MESH:D003456 Cryptorchidism vinclozolin 4.5414966744
MESH:D003643 Death 2-ethoxyethanol 6.236499796
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7017107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 9.3419739265 10774834 17906064 12594235 19085960 19370779 11834606 17562736 15968718 16485898 19923254 12392966 12705907 16393943 12958197 11529661 2444490 12540782 10915739 19420014 15619225 11743745 16781746 14550746 16177239 19164858 11287661 11739529 16227642 10663392 17522070 11461765 16081117 14725611 16109766 18071297 14986274 19416960 11421492 12153990 18713872
MESH:D056486 Drug-Induced Liver Injury Selenium 9.3415131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 9.3420420201
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 9.341733752 19641884
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3619426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8911462148
MESH:D004421 Dystonia Valproic Acid 4.231851702
MESH:C538011 Eales disease Vitamin E 4.979068938
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1718230668 16714409 15322242
MESH:D020964 Embryo Loss 2-ethoxyethanol 6.786499796
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.1810568697 9294722
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.373659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.1816628512 3922381
MESH:D004827 Epilepsy Valproic Acid 3.0118234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 3.747562514 6254150 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.517750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.303659116
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1411564622
MESH:D005234 Fatty Liver Valproic Acid 3.4714986274 19224547
MESH:D005313 Fetal Death 2-ethoxyethanol 11.576499820 7151721 6499823 7198755 2884743
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 11.5711858732
MESH:D005315 Fetal Diseases Valproic Acid 5.1516575769
MESH:D005317 Fetal Growth Retardation 2-ethoxyethanol 11.886499796
MESH:D005317 Fetal Growth Retardation Valproic Acid 11.8818558336 8888407
MESH:D005327 Fetal Resorption 2-ethoxyethanol 13.576499812 6499820
MESH:D005327 Fetal Resorption methyl cellosolve 13.573987992 6499821 6499812 6474471
MESH:D020567 Fetal Weight 2-ethoxyethanol 14.566499820 7151721 2884743
MESH:D020567 Fetal Weight methyl cellosolve 14.566474471 6499812 6499821
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.1620067830
MESH:D005532 Foot Deformities, Congenital methyl cellosolve 5.683652986
MESH:D005756 Gastritis Acetaminophen 3.9416983495
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.1716973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.5716417039
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8610696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.8510048152 11294989
MESH:D006330 Heart Defects, Congenital Vitamin E 6.8516080930
MESH:D006333 Heart Failure Selenium 3.1717162251
MESH:D006345 Heart Septal Defects, Ventricular methyl cellosolve 6.026499821
MESH:D006402 Hematologic Diseases 2-ethoxyethanol 5.5710514026 20172899
MESH:D006461 Hemolysis 2-ethoxyethanol 13.2419051582 17874071
MESH:D006461 Hemolysis methyl cellosolve 13.2417874071
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5111000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.1115340226 16120746 12621046
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7516863852 16490937
MESH:D019584 Hot Flashes Vitamin E 4.2414716179
MESH:D006849 Hydrocephalus Valproic Acid 5.1017688650
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.318697196 16959395 15340226 18606429 16354765
MESH:D006930 Hyperalgesia Acetaminophen 2.8416870215
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9618670907 18850075
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 4.8416612254
MESH:D007247 Infertility, Female 2-ethoxyethanol 5.416499823
MESH:D007248 Infertility, Male 2-ethoxyethanol 12.256499823
MESH:D007248 Infertility, Male methyl cellosolve 12.253987992
MESH:D007248 Infertility, Male vinclozolin 12.2516467254
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9312878042 12200463
MESH:D007251 Influenza, Human Selenium 11.8616624496
MESH:D007251 Influenza, Human Vitamin E 11.8616624496
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5116580747
MESH:D007674 Kidney Diseases Acetaminophen 6.2715629191 12587719
MESH:D007674 Kidney Diseases Vitamin E 6.2712488133
MESH:D007676 Kidney Failure, Chronic Selenium 4.0616518626
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1716294345 17596541
MESH:D007984 Leydig Cell Tumor vinclozolin 4.9716417039
MESH:D017880 Limb Deformities, Congenital methyl cellosolve 4.626499821
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3812878042
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 2.3816169303
MESH:D008107 Liver Diseases Acetaminophen 1.6612969438 19014921 19784758 12587719 19460945 11587558 16611625 16610002
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4017185352 16871587
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.7716984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2012151625
MESH:D008171 Lung Diseases Vitamin E 3.2916863852
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.5317228818
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3519555203 11884234
MESH:D008175 Lung Neoplasms Vitamin E 2.3511062179
MESH:D008231 Lymphopenia methyl cellosolve 6.023699323
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.8615318939
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7819513568
MESH:D008654 Mesothelioma Selenium 2.8515107826
MESH:D008881 Migraine Disorders Valproic Acid 3.3118803445 18765137
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.208888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.2417596541
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1612213967
MESH:D009336 Necrosis 2-ethoxyethanol 5.5820172899
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4114600291
MESH:D009436 Neural Tube Defects Valproic Acid 3.2316359493 8888407
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0118514411
MESH:D009845 Oligospermia 2-ethoxyethanol 12.1820172899
MESH:D009845 Oligospermia methyl cellosolve 12.183987992
MESH:D010146 Pain Acetaminophen 2.5316870215
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5112520081
MESH:D010954 Plasmacytoma Selenium 5.1515087411
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7618163543
MESH:D011297 Prenatal Exposure Delayed Effects 2-ethoxyethanol 33.352884743 6499817 7198755
MESH:D011297 Prenatal Exposure Delayed Effects methyl cellosolve 33.3512530607 6499817 7974496
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 33.3511118676 11399792 11222880 11896295
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 33.3520603192
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 33.3518220299 18042343 19015723
MESH:D011469 Prostatic Diseases vinclozolin 5.1718220299
MESH:D011471 Prostatic Neoplasms Vitamin E 3.2815084515
MESH:D011472 Prostatitis vinclozolin 5.1718629315
MESH:D019310 Pseudolymphoma Valproic Acid 4.8111422049 12752131
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0418990726
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.3619155313
MESH:D012559 Schizophrenia Valproic Acid 2.0919110320 15737665
MESH:D012640 Seizures Valproic Acid 2.8515475178 17978042 1511512 11738929 14763951 16876388 3137016 11044598
MESH:D012871 Skin Diseases Vitamin E 2.4818709164
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1116192470
MESH:D016135 Spinal Dysraphism Valproic Acid 3.9119490988
MESH:D013226 Status Epilepticus Valproic Acid 4.8112833885
MESH:D013276 Stomach Ulcer 2-ethoxyethanol 4.556499799
MESH:D020521 Stroke Vitamin E 3.6616517955
MESH:D013733 Testicular Diseases 2-ethoxyethanol 11.876499806 10048760 10514026
MESH:D013733 Testicular Diseases methyl cellosolve 11.876499806
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1712697716
MESH:D014178 Translocation, Genetic Valproic Acid 5.5017262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.763119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.868888407
MESH:D014581 Urticaria Acetaminophen 3.1610982225
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8612125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5115886252
Pathway ID Pathway Name
KEGG:04144 Endocytosis
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA38615
    • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    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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