AutismKB 2.0

Annotation Detail for AP3B2


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Basic Information Top
Gene Symbol:AP3B2 ( DKFZp686D17136,NAPTB )
Gene Full Name: adaptor-related protein complex 3, beta 2 subunit
Band: 15q25.2
Quick LinksEntrez ID:8120; OMIM: 602166; Uniprot ID:AP3B2_HUMAN; ENSEMBL ID: ENSG00000103723; HGNC ID: 567
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
D000082 Acetaminophen Acetaminophen affects the expression of AP3B2 mRNAaffects expression 17562736
D008345 Manganese Manganese results in increased expression of AP3B2 mRNAincreases expression 17175027
C025340 manganese chloride manganese chloride results in increased expression of AP3B2 mRNAincreases expression 17175027
D010100 Oxygen Oxygen deficiency results in increased expression of AP3B2 mRNAincreases expression 17175027
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury Oxygen 4.9916759491
MESH:D000756 Anemia, Sideroblastic Manganese 12.4816910769
MESH:D000756 Anemia, Sideroblastic manganese chloride 12.4816910769
MESH:D000799 Angioedema Acetaminophen 4.5710982225
MESH:D000860 Anoxia Oxygen 5.6920872349
MESH:D050197 Atherosclerosis Oxygen 4.0116391483
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001943 Breast Neoplasms Oxygen 3.1817263869
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.413084413
MESH:D002386 Cataract Acetaminophen 2.7910977129
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6712392966 16485898 10774834 12594235 11421492 11739529 17522070 16393943 19085960 11743745 15619225 18713872 16177239 19420014 12958197 19370779 16081117 19923254 16109766 2444490 15968718 17562736 18071297 19164858 19739265 10663392 14986274 11287661 17906064 14725611 11529661 16227642 14550746 12153990 19416960 10915739 12705907 11461765 12540782 11834606 16781746
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.8219426721
MESH:D004417 Dyspnea Oxygen 5.5520016425
MESH:D005739 Gas Poisoning Oxygen 5.9420016425
MESH:D005756 Gastritis Acetaminophen 4.4016983495
MESH:D005909 Glioblastoma Manganese 4.1517043766
MESH:D006930 Hyperalgesia Acetaminophen 3.0216870215
MESH:D007674 Kidney Diseases Acetaminophen 2.4015629191 12587719
MESH:D008107 Liver Diseases Acetaminophen 1.7019784758 11587558 12969438 16610002 19460945 12587719 19014921 16611625
MESH:D017114 Liver Failure, Acute Acetaminophen 3.6317185352 16871587
MESH:D055370 Lung Injury Oxygen 5.0718339021
MESH:D020149 Manganese Poisoning Manganese 6.2416568477 19453300 16551646
MESH:D008546 Melanoma, Experimental Acetaminophen 4.1319513568
MESH:D009069 Movement Disorders Manganese 5.4716551646
MESH:D009410 Nerve Degeneration Manganese 4.5816551646
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.2118514411
MESH:D010146 Pain Acetaminophen 2.7316870215
MESH:D010300 Parkinson Disease Manganese 3.4911181820
MESH:D020734 Parkinsonian Disorders Manganese 4.8616140633
MESH:D012128 Respiratory Distress Syndrome, Adult Oxygen 4.9718339021 17627322
MESH:D013398 Sudden Infant Death Oxygen 6.1812563064
MESH:D014581 Urticaria Acetaminophen 3.4410982225
Pathway ID Pathway Name
KEGG:04142 Lysosome
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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