AutismKB 2.0

Annotation Detail for ATP6V1G2


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Basic Information Top
Gene Symbol:ATP6V1G2 ( ATP6G,ATP6G2,NG38,VMA10 )
Gene Full Name: ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2
Band: 6p21.33
Quick LinksEntrez ID:534; OMIM: 606853; Uniprot ID:VATG2_HUMAN; ENSEMBL ID: ENSG00000213760; HGNC ID: 862
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
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of ATP6V1G2 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of ATP6V1G2 mRNAaffects expression 16483693
D002945 Cisplatin ATP6V1G2 protein affects the susceptibility to Cisplatinaffects response to substance 16217747
D018038 Sodium Selenite Sodium Selenite results in increased expression of ATP6V1G2 mRNAincreases expression 18175754
D014415 Tunicamycin Tunicamycin results in increased expression of ATP6V1G2 mRNAincreases expression 17127020
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.1018287403
MESH:D058186 Acute Kidney Injury Cisplatin 4.3317670903 12690470 15814532
MESH:D000230 Adenocarcinoma Cisplatin 2.8217638652 11798837
MESH:D000799 Angioedema Acetaminophen 4.4510982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D019046 Bone Marrow Neoplasms Cisplatin 5.5014601052
MESH:D001943 Breast Neoplasms Cisplatin 2.7719526202 18382427
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 3.193084413
MESH:D006528 Carcinoma, Hepatocellular Cisplatin 3.1917982673
MESH:D002289 Carcinoma, Non-Small-Cell Lung Cisplatin 3.1316685392 12023789
MESH:D002294 Carcinoma, Squamous Cell Cisplatin 2.9018337622 17066447 6189445
MESH:D002386 Cataract Acetaminophen 2.7710977129
MESH:D019457 Chromosome Breakage Sodium Selenite 5.2415894690
MESH:D015179 Colorectal Neoplasms Cisplatin 2.3315273666
MESH:D003920 Diabetes Mellitus Sodium Selenite 4.1016285004
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 4.1119370779 10663392 16109766 15619225 16393943 14550746 12594235 12540782 16227642 12153990 17562736 12392966 2444490 19420014 19164858 11529661 19923254 10774834 11421492 14725611 11834606 10915739 12958197 11287661 14986274 16177239 17522070 19739265 16485898 15968718 11743745 16081117 19085960 17906064 11461765 11739529 18071297 19416960 18713872 16781746 12705907
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 4.1115131321
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.7119426721
MESH:D004362 Drug Toxicity Cisplatin 4.1112649298 12231392 15033597 19839026
MESH:D004938 Esophageal Neoplasms Cisplatin 2.8417638652 15464296 16481741 15173087 16785472
MESH:D005756 Gastritis Acetaminophen 4.2916983495
MESH:D006258 Head and Neck Neoplasms Cisplatin 3.9415464296 15102660
MESH:D034381 Hearing Loss Cisplatin 4.6219898482
MESH:D006319 Hearing Loss, Sensorineural Cisplatin 4.7315464296
MESH:D006689 Hodgkin Disease Cisplatin 3.9116200630 16170182
MESH:D006930 Hyperalgesia Acetaminophen 2.9916870215
MESH:D007333 Insulin Resistance Sodium Selenite 3.4914714311
MESH:D007673 Kidney Cortex Necrosis Cisplatin 5.7515464296
MESH:D007674 Kidney Diseases Acetaminophen 6.7415629191 12587719
MESH:D007674 Kidney Diseases Cisplatin 6.7418289764 15190930 12649298 19839026 12231392
MESH:D007683 Kidney Tubular Necrosis, Acute Cisplatin 5.4111231351
MESH:D008107 Liver Diseases Acetaminophen 1.6919014921 16611625 19784758 12969438 12587719 19460945 11587558 16610002
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5816871587 17185352
MESH:D008175 Lung Neoplasms Cisplatin 2.3417225452 11798837 6189445
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.4614737004
MESH:D008545 Melanoma Cisplatin 2.5118505091 16248763 15577323 18176117 12393984 11135225 17023156 12374674 16809738 18332650 17761969 12883367 16432458
MESH:D018328 Melanoma, Amelanotic Cisplatin 5.3115990972
MESH:D008546 Melanoma, Experimental Acetaminophen 4.0519513568
MESH:D008654 Mesothelioma Cisplatin 3.3617638057
MESH:D009369 Neoplasms Cisplatin 3.0816773208
MESH:D009395 Nephritis, Interstitial Cisplatin 5.1015464296
MESH:D009447 Neuroblastoma Cisplatin 3.608761367
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1818514411
MESH:D017599 Neuroectodermal Tumors Cisplatin 5.248761367
MESH:D010051 Ovarian Neoplasms Cisplatin 2.966897625 17225452 19769630 15464296
MESH:D010146 Pain Acetaminophen 2.6916870215
MESH:D010190 Pancreatic Neoplasms Cisplatin 3.0919003803
MESH:D010523 Peripheral Nervous System Diseases Cisplatin 4.7515464296
MESH:D010997 Pleural Neoplasms Cisplatin 5.9517638057
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3418760546
MESH:D051437 Renal Insufficiency Cisplatin 4.8915464296
MESH:D012512 Sarcoma, Ewing's Cisplatin 4.8714601052
MESH:D055752 Small Cell Lung Carcinoma Cisplatin 5.9515464296
MESH:D013274 Stomach Neoplasms Cisplatin 2.3318396642 17522103 15958060
MESH:D013736 Testicular Neoplasms Cisplatin 5.0315464296 17225452
MESH:D001749 Urinary Bladder Neoplasms Cisplatin 3.0617225452 12973940 15464296
MESH:D014581 Urticaria Acetaminophen 3.3810982225
MESH:D002583 Uterine Cervical Neoplasms Cisplatin 4.5516803524
MESH:D014625 Vaginal Neoplasms Cisplatin 5.0915577323
MESH:D014839 Vomiting Cisplatin 5.3311897121
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
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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