AutismKB 2.0

Annotation Detail for ATP6V0A2


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Basic Information Top
Gene Symbol:ATP6V0A2 ( A2,ARCL,ATP6A2,ATP6N1D,J6B7,RTF,STV1,TJ6,TJ6M,TJ6S,VPH1,WSS )
Gene Full Name: ATPase, H+ transporting, lysosomal V0 subunit a2
Band: 12q24.31
Quick LinksEntrez ID:23545; OMIM: 611716; Uniprot ID:VPP2_HUMAN; ENSEMBL ID: ENSG00000185344; HGNC ID: 18481
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04142Lysosome
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
No data
No data
Desease Name
Cutis laxa, autosomal recessive, type II
Wrinkly skin syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of ATP6V0A2 mRNAaffects expression 16483693
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of ATP6V0A2 mRNAdecreases expression 19150397
D016572 Cyclosporine Cyclosporine results in increased expression of ATP6V0A2 mRNAincreases expression 20106945
C004742 daidzein [Genistein co-treated with daidzein co-treated with glycitein] results in decreased expression of ATP6V0A2 mRNAaffects cotreatment|decreases expression 16963248
D019833 Genistein [Genistein co-treated with daidzein co-treated with glycitein] results in decreased expression of ATP6V0A2 mRNAaffects cotreatment|decreases expression 16963248
C086566 glycitein [Genistein co-treated with daidzein co-treated with glycitein] results in decreased expression of ATP6V0A2 mRNAaffects cotreatment|decreases expression 16963248
D009151 Mustard Gas Mustard Gas results in increased expression of ATP6V0A2 mRNAincreases expression 15674844
D010634 Phenobarbital Phenobarbital results in increased expression of ATP6V0A2 mRNAincreases expression 19270015
C006253 pirinixic acid pirinixic acid results in increased expression of ATP6V0A2 mRNAincreases expression 18301758
C025643 vinclozolin vinclozolin affects the expression of ATP6V0A2 mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 3.686195326
MESH:D000138 Acidosis Ammonium Chloride 3.8018287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.3018653653
MESH:D000230 Adenocarcinoma daidzein 5.0811473722
MESH:D000230 Adenocarcinoma Genistein 5.0811473722
MESH:D018248 Adenoma, Liver Cell Phenobarbital 10.9317620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.9316434500
MESH:D001008 Anxiety Disorders vinclozolin 3.7819015723
MESH:D001249 Asthma Mustard Gas 2.7510378619
MESH:D001768 Blister Mustard Gas 5.4019167455
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.3219483382
MESH:D001943 Breast Neoplasms Genistein 2.5116541309 16873071 17200150
MESH:D001989 Bronchiolitis Obliterans Mustard Gas 5.4015286001
MESH:D029481 Bronchitis, Chronic Mustard Gas 5.2410378619 17687719
MESH:D006528 Carcinoma, Hepatocellular Genistein 3.2316924424
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 3.2320007298 1701930 17173139 6705139 20935162
MESH:D002318 Cardiovascular Diseases daidzein 8.1816332659
MESH:D002318 Cardiovascular Diseases Genistein 8.1816332659
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 6.9420889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.9412371664
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.474080065
MESH:D002779 Cholestasis Cyclosporine 8.1819486331
MESH:D002779 Cholestasis pirinixic acid 8.1819176532
MESH:D003110 Colonic Neoplasms Genistein 2.3117182828
MESH:D003456 Cryptorchidism vinclozolin 4.5414966744
OMIM:219200 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA marker/mechanism
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4918249437
MESH:D003924 Diabetes Mellitus, Type 2 daidzein 5.1016647724
MESH:D003924 Diabetes Mellitus, Type 2 Genistein 5.1016647724
MESH:D004421 Dystonia Phenobarbital 4.191851702
MESH:D004487 Edema Mustard Gas 7.4511428631 9260866 11428647 11402378
MESH:D004487 Edema pirinixic acid 7.4512083418
MESH:D004714 Endometrial Hyperplasia Genistein 4.8316402032
MESH:D016889 Endometrial Neoplasms daidzein 8.3511473722
MESH:D016889 Endometrial Neoplasms Genistein 8.3511473722
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.323659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.1411558140 3922381
MESH:D004827 Epilepsy Phenobarbital 2.9720417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.696401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.477750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.263659116
MESH:D007172 Erectile Dysfunction daidzein 5.2114972507
MESH:D004890 Erythema Mustard Gas 5.409357497
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1120426865
MESH:D005234 Fatty Liver Cyclosporine 8.1419224547
MESH:D005234 Fatty Liver pirinixic acid 8.1419236843 20131406
MESH:D005355 Fibrosis Cyclosporine 3.3612639820 12168785
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.1716973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.5716417039
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.468708960
MESH:D005909 Glioblastoma Genistein 3.3616598420
MESH:D006333 Heart Failure pirinixic acid 2.6320558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.6615720958
MESH:D006529 Hepatomegaly Phenobarbital 9.2116109766
MESH:D006529 Hepatomegaly pirinixic acid 9.2119176532 16221962 18467677 19772884
MESH:D006943 Hyperglycemia pirinixic acid 3.3420558911
MESH:D006973 Hypertension Cyclosporine 5.7910903974
MESH:D006973 Hypertension daidzein 5.7917169123
MESH:D007248 Infertility, Male vinclozolin 3.1516467254
MESH:D007249 Inflammation Mustard Gas 2.869357497 9260866 8975870 11428620 17524151 11428647 11428631 16001271 11402378
MESH:D007333 Insulin Resistance pirinixic acid 2.7416306350
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.7115604871
MESH:D007674 Kidney Diseases Cyclosporine 2.438314463 10903974 18776723
MESH:D007680 Kidney Neoplasms Cyclosporine 2.8812371664
MESH:D007938 Leukemia Genistein 3.1017468513 18980019
MESH:D007984 Leydig Cell Tumor vinclozolin 4.9716417039
MESH:D008103 Liver Cirrhosis Phenobarbital 2.9821047994
MESH:D008106 Liver Cirrhosis, Experimental Genistein 2.4817823541
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.4815474484
MESH:D008107 Liver Diseases Phenobarbital 2.2019363144
MESH:D008113 Liver Neoplasms Phenobarbital 4.6619073162 19482888 8742319 21047994 15975961 19812893
MESH:D008113 Liver Neoplasms pirinixic acid 4.6615890375 20007298 16377806
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 2.806150874 18308698 2563599 1399818 17172636
MESH:D008171 Lung Diseases Mustard Gas 3.5618161513 18702808
MESH:D008175 Lung Neoplasms Mustard Gas 2.173148597 8781369
MESH:D008325 Mammary Neoplasms, Experimental Genistein 3.0412929590 14578162
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.0516801185
MESH:D009135 Muscular Diseases pirinixic acid 3.7216239165
MESH:D009203 Myocardial Infarction Genistein 5.8917141266
MESH:D009203 Myocardial Infarction pirinixic acid 5.8919151258
MESH:D015428 Myocardial Reperfusion Injury Genistein 8.8317141266
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 8.8316411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.7117484760
MESH:D009369 Neoplasms pirinixic acid 2.0217405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.7117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4419348381 18481113
MESH:D009421 Nervous System Malformations Genistein 4.2316427766
MESH:D009503 Neutropenia Mustard Gas 4.1516761898 7688884
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D010018 Osteomalacia Phenobarbital 4.6017016548
MESH:D010024 Osteoporosis Genistein 3.3519401787
MESH:D015663 Osteoporosis, Postmenopausal Genistein 4.2716169203
MESH:D010051 Ovarian Neoplasms Genistein 2.6419005980
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.5416965848
MESH:D011041 Poisoning Mustard Gas 3.9815727166
MESH:D011230 Precancerous Conditions Cyclosporine 9.4812371664
MESH:D011230 Precancerous Conditions Phenobarbital 9.482563599
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 4.1318042343 18220299 19015723
MESH:D011469 Prostatic Diseases vinclozolin 5.1718220299
MESH:D011471 Prostatic Neoplasms Genistein 3.4416925846 15256057 15378649
MESH:D011472 Prostatitis vinclozolin 5.1718629315
MESH:D011537 Pruritus Mustard Gas 4.3318058305
MESH:D019310 Pseudolymphoma Phenobarbital 4.7612752131
MESH:D011565 Psoriasis Cyclosporine 2.2816882103
MESH:D011658 Pulmonary Fibrosis Mustard Gas 2.9817894541 17720292 10334151 17620002 17266442
MESH:D015427 Reperfusion Injury pirinixic acid 2.4619058328
MESH:D012640 Seizures Phenobarbital 2.8011442880 3137016 16876388 4039156
MESH:D003294 Seizures, Febrile Phenobarbital 5.066407741
MESH:D012871 Skin Diseases Mustard Gas 2.7516961503 12880345 15451306
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.181399818
MESH:D014605 Uveitis Cyclosporine 4.251336536
MESH:C536750 Wrinkly skin syndrome marker/mechanism 18157129
MESH:D014985 Xerophthalmia Cyclosporine 4.7117120751
Pathway ID Pathway Name
KEGG:04966 Collecting duct acid secretion
KEGG:05120 Epithelial cell signaling in Helicobacter pylori infection
KEGG:04142 Lysosome
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:05152 Tuberculosis
KEGG:05110 Vibrio cholerae infection
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA38549
    • No data
    Releated disease ID Related disease Name
    PA443824Cutis Laxa
    No data
    Drug Bank Top

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    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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