AutismKB 2.0

Annotation Detail for ATP6V1B2


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Basic Information Top
Gene Symbol:ATP6V1B2 ( ATP6B1B2,ATP6B2,HO57,VATB,VPP3,Vma2 )
Gene Full Name: ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2
Band: 8p21.3
Quick LinksEntrez ID:526; OMIM: 606939; Uniprot ID:VATB2_HUMAN; ENSEMBL ID: ENSG00000147416; HGNC ID: 854
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04145Phagosome
hsa05120Epithelial cell signaling in Helicobacter pylori infection
hsa04966Collecting duct acid secretion
hsa00190Oxidative phosphorylation
hsa01100Metabolic pathways
hsa05110Vibrio cholerae infection
Pathway IDPathway Name
Signaling by Insulin receptor
No data
No data
No data
Related Diseases/Disorders Top
No data
No data
Desease Name
PSYCH
major depressive disorder (broad)
Desease Name
Major depressive disorder (broad)
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of ATP6V1B2 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of ATP6V1B2 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of ATP6V1B2 mRNAaffects expression 16483693
D002746 Chlorpromazine Chlorpromazine results in decreased expression of ATP6V1B2 proteindecreases expression 19441803
D003024 Clozapine Clozapine results in decreased expression of ATP6V1B2 proteindecreases expression 19441803
D004054 Diethylstilbestrol Diethylstilbestrol results in increased expression of ATP6V1B2 mRNAincreases expression 15289156
D004054 Diethylstilbestrol Diethylstilbestrol results in decreased expression of ATP6V1B2 proteindecreases expression 12297525
D004054 Diethylstilbestrol Testosterone inhibits the reaction [Diethylstilbestrol results in decreased expression of ATP6V1B2 protein]decreases expression|decreases reaction 12297525
D004958 Estradiol Estradiol results in increased expression of ATP6V1B2 mRNAincreases expression 15289156
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of ATP6V1B2 mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of ATP6V1B2 proteindecreases expression 12297525
D005485 Flutamide Flutamide results in decreased expression of ATP6V1B2 proteindecreases expression 12297525
D019833 Genistein Genistein results in increased expression of ATP6V1B2 mRNAincreases expression 15289156
D006220 Haloperidol Haloperidol results in decreased expression of ATP6V1B2 mRNAdecreases expression 16465460
C083781 LHRH, Ala(6)-Gly(10)-ethylamide- LHRH, Ala(6)-Gly(10)-ethylamide- results in decreased expression of ATP6V1B2 proteindecreases expression 12297525
D008701 Methapyrilene Methapyrilene results in increased expression of ATP6V1B2 mRNAincreases expression 16393664
C014707 nitrosobenzylmethylamine nitrosobenzylmethylamine results in increased expression of ATP6V1B2 mRNAincreases expression 17616710
D010665 Phenylpropanolamine Phenylpropanolamine results in decreased expression of ATP6V1B2 mRNAdecreases expression 16465460
D013739 Testosterone Testosterone inhibits the reaction [Diethylstilbestrol results in decreased expression of ATP6V1B2 protein]decreases expression|decreases reaction 12297525
C025643 vinclozolin vinclozolin affects the expression of ATP6V1B2 mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.5518287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 3.9417505938
MESH:D000230 Adenocarcinoma Estradiol 7.0411473722
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 7.0414692618
MESH:D000230 Adenocarcinoma Genistein 7.0411473722
MESH:D000380 Agranulocytosis Clozapine 5.0412649775 14617031 16160616
MESH:D000686 Amyloidosis Diethylstilbestrol 4.4615469931
MESH:D000799 Angioedema Acetaminophen 3.8410982225
MESH:D000855 Anorexia Phenylpropanolamine 5.7117684035
MESH:D000987 Antisocial Personality Disorder Testosterone 5.857506515
MESH:D001008 Anxiety Disorders vinclozolin 3.6219015723
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.4511256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.6515885639
MESH:D001321 Autistic Disorder Acetaminophen 2.1218445737
MESH:D001321 Autistic Disorder Haloperidol 2.1219368416 18080171
MESH:D001943 Breast Neoplasms Diethylstilbestrol 2.0415324884 17129689
MESH:D001943 Breast Neoplasms Estradiol 2.0417261762 18497071 19861407 16675129 17289903 14630087 12948864 17018787
MESH:D001943 Breast Neoplasms Genistein 2.0416541309 17200150 16873071
MESH:D001943 Breast Neoplasms Testosterone 2.0417261762
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.4516111702
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 8.8416705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 8.843084413
MESH:D006528 Carcinoma, Hepatocellular Diethylstilbestrol 8.8415948411 16924424
MESH:D006528 Carcinoma, Hepatocellular Estradiol 8.8416924424
MESH:D006528 Carcinoma, Hepatocellular Genistein 8.8416924424
MESH:D002318 Cardiovascular Diseases Genistein 3.2916332659
MESH:D002375 Catalepsy Haloperidol 4.9015215559 1977408
MESH:D002386 Cataract Acetaminophen 2.5710977129
MESH:D002471 Cell Transformation, Neoplastic Estradiol 2.7618566989
MESH:D002659 Child Development Disorders, Pervasive Testosterone 3.6720678186
MESH:D002779 Cholestasis Ethinyl Estradiol 2.8617110522 15861022 17333356 16919318 11677210 16105132 17681005
MESH:D003072 Cognition Disorders Clozapine 4.9517123785
MESH:D003110 Colonic Neoplasms Genistein 2.2817182828
MESH:D003456 Cryptorchidism Diethylstilbestrol 11.3216002989 12952375
MESH:D003456 Cryptorchidism vinclozolin 11.3214966744
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.0018551238
MESH:D016757 Death, Sudden, Cardiac Haloperidol 4.8220210726
MESH:D003704 Dementia Haloperidol 4.5611575062
MESH:D003924 Diabetes Mellitus, Type 2 Clozapine 4.7916402076
MESH:D003924 Diabetes Mellitus, Type 2 Genistein 4.7916647724
MESH:D003928 Diabetic Nephropathies Estradiol 3.3919279558
MESH:D006970 Disorders of Excessive Somnolence Clozapine 5.5515331141
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 6.3618551238 21346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.3618713872 11834606 19739265 17522070 19416960 16227642 16781746 16109766 11461765 17906064 18071297 11421492 14725611 15968718 11287661 12958197 12705907 12594235 10663392 15619225 16485898 10915739 10774834 16081117 12153990 14986274 11743745 19923254 11529661 19085960 12540782 2444490 11739529 19164858 12392966 19420014 16393943 16177239 19370779 14550746 17562736
MESH:D056486 Drug-Induced Liver Injury Chlorpromazine 6.3611461765
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.1019426721
MESH:D050171 Dyslipidemias Clozapine 4.1716402076
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.1712538720
MESH:D004714 Endometrial Hyperplasia Diethylstilbestrol 11.8716402032
MESH:D004714 Endometrial Hyperplasia Genistein 11.8716402032
MESH:D016889 Endometrial Neoplasms Diethylstilbestrol 12.4416804899 15700306
MESH:D016889 Endometrial Neoplasms Estradiol 12.4419148513 18566989 11473722
MESH:D016889 Endometrial Neoplasms Genistein 12.4411473722
MESH:D004938 Esophageal Neoplasms nitrosobenzylmethylamine 2.7715264214 15150132 16704527 15547733 15547721 15623463 16510608 16805852 15878914
MESH:D005234 Fatty Liver Ethinyl Estradiol 2.8015345470
MESH:D052776 Female Urogenital Diseases Diethylstilbestrol 3.6415751030 16611131 16002989 16534752 16513791
MESH:D005391 Firesetting Behavior Testosterone 5.857506515
MESH:D005756 Gastritis Acetaminophen 3.6816983495
MESH:D030342 Genetic Diseases, Inborn vinclozolin 4.9316973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.3016417039
MESH:D005833 Genital Neoplasms, Female Diethylstilbestrol 4.9416452187
MESH:D005909 Glioblastoma Genistein 7.5516598420
MESH:D005909 Glioblastoma Testosterone 7.5517162496
MESH:D006558 Herpes Genitalis Estradiol 5.0315709030
MESH:D006561 Herpes Simplex Chlorpromazine 5.281682908
MESH:D006628 Hirsutism LHRH, Ala(6)-Gly(10)-ethylamide- 14.1111228061
MESH:D006628 Hirsutism Testosterone 14.1117019078
MESH:D019584 Hot Flashes Estradiol 3.7517088409
MESH:D006930 Hyperalgesia Acetaminophen 2.6816870215
MESH:D017588 Hyperandrogenism Flutamide 12.2315356085
MESH:D017588 Hyperandrogenism Testosterone 12.2317019078
MESH:D006948 Hyperkinesis Clozapine 4.9016046005
MESH:D006965 Hyperplasia Diethylstilbestrol 4.4214722030 12960047
MESH:D007006 Hypogonadism Testosterone 4.5712002444
MESH:D007018 Hypopituitarism Testosterone 6.2017426086
MESH:D007021 Hypospadias Diethylstilbestrol 11.2016002989
MESH:D007021 Hypospadias Ethinyl Estradiol 11.2016569931 16945680
MESH:D007174 Impulse Control Disorders Testosterone 5.857506515
MESH:D007246 Infertility Diethylstilbestrol 4.3415036965
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.4412013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 6.6117937319
MESH:D007248 Infertility, Male vinclozolin 6.6116467254
MESH:D007333 Insulin Resistance Estradiol 2.9516393666 16627594
MESH:D007674 Kidney Diseases Acetaminophen 5.8412587719 15629191
MESH:D007674 Kidney Diseases Estradiol 5.8415618244
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 12.3616705839
MESH:D007680 Kidney Neoplasms Diethylstilbestrol 12.3614681315 15003126 16762066
MESH:D007680 Kidney Neoplasms Estradiol 12.3615610895
MESH:D007859 Learning Disorders Diethylstilbestrol 4.0517184923
MESH:D007938 Leukemia Genistein 3.0118980019 17468513
MESH:D007984 Leydig Cell Tumor vinclozolin 4.7216417039
MESH:D008064 Lipidoses Chlorpromazine 8.6217567588 15342952
MESH:D008064 Lipidoses Clozapine 8.6217567588
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 2.5514659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental Genistein 2.5517823541
MESH:D008107 Liver Diseases Acetaminophen 4.4716611625 11587558 19784758 12587719 12969438 16610002 19460945 19014921
MESH:D008107 Liver Diseases Chlorpromazine 4.4714986274
MESH:D017114 Liver Failure, Acute Acetaminophen 3.2217185352 16871587
MESH:D008113 Liver Neoplasms Diethylstilbestrol 5.0816712894 15890375
MESH:D008113 Liver Neoplasms Methapyrilene 5.0815890375
MESH:D008181 Lupus Nephritis Diethylstilbestrol 5.1415166399
MESH:D008223 Lymphoma Diethylstilbestrol 3.4615700306
MESH:D052801 Male Urogenital Diseases Diethylstilbestrol 5.5216002989
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 6.0411408345 11807958 17203775 16891317
MESH:D008325 Mammary Neoplasms, Experimental Genistein 6.0414578162 12929590
MESH:D020149 Manganese Poisoning Estradiol 4.4819453300
MESH:D008546 Melanoma, Experimental Acetaminophen 3.5519513568
MESH:D001523 Mental Disorders Chlorpromazine 13.4216856516
MESH:D001523 Mental Disorders Clozapine 13.4216856516
MESH:D001523 Mental Disorders Haloperidol 13.4216856516
MESH:D024821 Metabolic Syndrome X Clozapine 4.3919142101
MESH:D009175 Mycoplasma Infections Chlorpromazine 6.0010773494
MESH:D009203 Myocardial Infarction Genistein 2.8517141266
MESH:D015428 Myocardial Reperfusion Injury Estradiol 8.4616810080
MESH:D015428 Myocardial Reperfusion Injury Genistein 8.4617141266
MESH:D009336 Necrosis 2,4-dinitrotoluene 3.8518551238
MESH:D009369 Neoplasms Diethylstilbestrol 2.7515313581
MESH:D009389 Neovascularization, Pathologic Estradiol 3.7217289903
MESH:D009421 Nervous System Malformations Diethylstilbestrol 16.4011399458
MESH:D009421 Nervous System Malformations Estradiol 16.4016427766 11399458
MESH:D009421 Nervous System Malformations Genistein 16.4016427766
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.8518514411
MESH:D009765 Obesity Clozapine 3.0118515891 19142110
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.4112819281 16049721
MESH:D010024 Osteoporosis Genistein 3.2419401787
MESH:D015663 Osteoporosis, Postmenopausal Genistein 4.0716169203
MESH:D010051 Ovarian Neoplasms Estradiol 4.8819401270
MESH:D010051 Ovarian Neoplasms Genistein 4.8819005980
MESH:D010146 Pain Acetaminophen 2.3716870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.6711578682
MESH:D010900 Pituitary Diseases Diethylstilbestrol 5.1714722030
MESH:D010911 Pituitary Neoplasms Diethylstilbestrol 4.6615687265 16977796
MESH:D011085 Polycystic Ovary Syndrome Flutamide 4.9915356085
MESH:D011297 Prenatal Exposure Delayed Effects Diethylstilbestrol 9.8017184923
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 9.8018220299 19015723 18042343
MESH:D011469 Prostatic Diseases vinclozolin 4.9318220299
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 10.8020887781
MESH:D019048 Prostatic Intraepithelial Neoplasia Testosterone 10.8020887781
MESH:D011471 Prostatic Neoplasms Diethylstilbestrol 2.1515846301 17136230 15046698
MESH:D011471 Prostatic Neoplasms Estradiol 2.1516740699
MESH:D011471 Prostatic Neoplasms Flutamide 2.153169114
MESH:D011471 Prostatic Neoplasms Genistein 2.1515256057 15378649 16925846
MESH:D011472 Prostatitis vinclozolin 4.9318629315
MESH:D011537 Pruritus Ethinyl Estradiol 3.3016919318 15861022
MESH:D011595 Psychomotor Agitation Haloperidol 4.9411575062
MESH:D011618 Psychotic Disorders Clozapine 9.1115331141
MESH:D011618 Psychotic Disorders Haloperidol 9.1111575062
MESH:D012559 Schizophrenia Clozapine 4.0920168265 11763009 20107430 18855531 17667964 20521326 20580759 20452607 17726453 20521320 16141801 19369910 17123785 11151749 18806925
MESH:D012559 Schizophrenia Haloperidol 4.0918513383 19369910 1830565 20107430
MESH:D012640 Seizures 2,4-dinitrotoluene 2.5218551238
MESH:D012735 Sexual Dysfunction, Physiological Testosterone 6.2016631401
MESH:D013088 Spermatocele Diethylstilbestrol 11.7216002989 16709447
MESH:D013088 Spermatocele Ethinyl Estradiol 11.7216709447
MESH:D013274 Stomach Neoplasms nitrosobenzylmethylamine 2.3212958204 17575124
MESH:D017180 Tachycardia, Ventricular Haloperidol 4.6920210726
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.6011994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.1315669648
MESH:D013978 Tibial Fractures Estradiol 4.6919048282
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.1616049721
MESH:D001749 Urinary Bladder Neoplasms Diethylstilbestrol 5.1617306315 16452187 16712894
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.3110091137
MESH:D014581 Urticaria Acetaminophen 2.9610982225
MESH:D002583 Uterine Cervical Neoplasms Diethylstilbestrol 4.0116175088
MESH:D014591 Uterine Diseases Diethylstilbestrol 5.1714652134
MESH:D014594 Uterine Neoplasms Diethylstilbestrol 9.4215809267 16690809
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 9.4214692618
MESH:D014625 Vaginal Neoplasms Diethylstilbestrol 4.4216513791 16002989
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.5215869587 14671159
MESH:D015430 Weight Gain Clozapine 4.4516141801 20564506 20107430 17502770 20521320 16402076
MESH:D015431 Weight Loss Clozapine 5.0717933447
Pathway ID Pathway Name
KEGG:04966 Collecting duct acid secretion
KEGG:05120 Epithelial cell signaling in Helicobacter pylori infection
KEGG:01100 Metabolic pathways
KEGG:00190 Oxidative phosphorylation
KEGG:04145 Phagosome
KEGG:05323 Rheumatoid arthritis
REACT:498 Signaling by Insulin receptor
REACT:15518 Transmembrane transport of small molecules
KEGG:05110 Vibrio cholerae infection
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB05260 antagonist Gallium nitrate Antineoplastic Agents
DB07347 - 4-(2-AMINOETHYL)BENZENESULFONYL FLUORIDE
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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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