AutismKB 2.0

Annotation Detail for ATP8B2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ATP8B2 ( ATPID,DKFZp434M0219,KIAA1137 )
Gene Full Name: ATPase, class I, type 8B, member 2
Band: 1q21.3
Quick LinksEntrez ID:57198; OMIM: 605867; Uniprot ID:AT8B2_HUMAN; ENSEMBL ID: ENSG00000143515; HGNC ID: 13534
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
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of ATP8B2 mRNAaffects expression 21346803
C035207 4-amino-2,6-dinitrotoluene 4-amino-2,6-dinitrotoluene affects the expression of ATP8B2 mRNAaffects expression 21346803
D016572 Cyclosporine Cyclosporine results in increased expression of ATP8B2 mRNAincreases expression 20106945
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of ATP8B2 mRNAaffects binding|decreases expression|increases activity 19710929
C025643 vinclozolin vinclozolin results in decreased expression of ATP8B2 mRNAdecreases expression 18042343
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced 4-amino-2,6-dinitrotoluene 4.497525203
MESH:D055371 Acute Lung Injury pirinixic acid 3.5218653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.0216434500
MESH:D001008 Anxiety Disorders vinclozolin 3.9319015723
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5219483382
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 1.7816705839
MESH:D002386 Cataract 4-amino-2,6-dinitrotoluene 3.8114694615
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.7612371664
MESH:D002779 Cholestasis Cyclosporine 8.6319486331
MESH:D002779 Cholestasis pirinixic acid 8.6319176532
MESH:D000013 Congenital Abnormalities 4-amino-2,6-dinitrotoluene 4.4915095906
MESH:D003456 Cryptorchidism vinclozolin 4.7814966744
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.5018551238
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5618249437
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 4.3818551238 21346803
MESH:D056486 Drug-Induced Liver Injury 4-amino-2,6-dinitrotoluene 4.3821346803
MESH:D004487 Edema pirinixic acid 2.8512083418
MESH:D005234 Fatty Liver Cyclosporine 8.8219224547
MESH:D005234 Fatty Liver pirinixic acid 8.8219236843 20131406
MESH:D005355 Fibrosis Cyclosporine 3.6212639820 12168785
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.4716973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.9116417039
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.768708960
MESH:D006333 Heart Failure pirinixic acid 2.7320558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.9615720958
MESH:D006529 Hepatomegaly pirinixic acid 3.4816221962 19176532 18467677 19772884
MESH:D006943 Hyperglycemia pirinixic acid 3.5320558911
MESH:D006973 Hypertension Cyclosporine 2.2010903974
MESH:D007248 Infertility, Male vinclozolin 3.2616467254
MESH:D007333 Insulin Resistance pirinixic acid 2.8516306350
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.0515604871
MESH:D007674 Kidney Diseases Cyclosporine 2.528314463 10903974 18776723
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 8.3016705839
MESH:D007680 Kidney Neoplasms Cyclosporine 8.3012371664
MESH:D007984 Leydig Cell Tumor vinclozolin 5.2716417039
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms pirinixic acid 1.9220007298 15890375 16377806
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.4016801185
MESH:D009135 Muscular Diseases pirinixic acid 3.9916239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2619151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2216411023
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.4018551238
MESH:D009369 Neoplasms pirinixic acid 2.0917405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.0517954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6119348381 18481113
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 10.3116049721 12819281
MESH:D009784 Occupational Diseases 4-amino-2,6-dinitrotoluene 10.3114694615
MESH:D011230 Precancerous Conditions Cyclosporine 3.5512371664
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 4.4418042343 19015723 18220299
MESH:D011469 Prostatic Diseases vinclozolin 5.4718220299
MESH:D011472 Prostatitis vinclozolin 5.4718629315
MESH:D011565 Psoriasis Cyclosporine 2.3216882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.5319058328
MESH:D012640 Seizures 2,4-dinitrotoluene 2.7618551238
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 2.3916049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.8610091137
MESH:D014605 Uveitis Cyclosporine 4.591336536
MESH:D014985 Xerophthalmia Cyclosporine 5.0517120751
Pathway ID Pathway Name
REACT:15518 Transmembrane transport of small molecules
Pharmacogenomics Knowledge Base Top
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