AutismKB 2.0

Annotation Detail for CHMP2B


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Basic Information Top
Gene Symbol:CHMP2B ( CHMP2.5,DKFZp564O123,DMT1,VPS2-2,VPS2B )
Gene Full Name: chromatin modifying protein 2B
Band: 3p11.2
Quick LinksEntrez ID:25978; OMIM: 609512; Uniprot ID:CHM2B_HUMAN; ENSEMBL ID: ENSG00000083937; HGNC ID: 24537
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Desease IDDesease Name
H00078Pick's disease
Nervous system diseases
Neurodegenerative diseases
Desease IDDesease Name
1740Alzheimer's disease
2035Brain disease
2062Neurodegenerative disorder
2134Amyotrophic lateral sclerosis
2198Psychotic disorder
No data
No data
Desease Name
Dementia, familial, nonspecific
Amyotrophic lateral sclerosis, CHMP2B-related
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene results in increased expression of CHMP2B mRNAincreases expression 20406850
D000082 Acetaminophen Acetaminophen affects the expression of CHMP2B mRNAaffects expression 17562736
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000690 Amyotrophic Lateral Sclerosis marker/mechanism
MESH:D000799 Angioedema Acetaminophen 4.9110982225
MESH:D001321 Autistic Disorder Acetaminophen 1.3918445737
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 2.9916705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.993084413
MESH:D002386 Cataract Acetaminophen 2.8310977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 3.096135515
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.7818551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 4.0818551238 21346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 4.0811421492 14550746 17522070 18071297 16781746 11287661 14725611 12540782 12958197 17906064 12705907 12153990 14986274 10915739 11461765 11529661 19416960 10663392 19739265 2444490 16227642 16177239 11834606 16109766 11739529 16081117 19420014 11743745 15968718 19085960 10774834 19370779 15619225 12392966 17562736 16393943 12594235 19164858 19923254 18713872 16485898
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 5.1719426721
OMIM:600795 FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED marker/mechanism
MESH:D005756 Gastritis Acetaminophen 4.7416983495
MESH:D006930 Hyperalgesia Acetaminophen 3.1116870215
MESH:D007674 Kidney Diseases Acetaminophen 2.4415629191 12587719
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 3.4116705839
MESH:D008107 Liver Diseases Acetaminophen 1.7119784758 16611625 19014921 11587558 19460945 12587719 12969438 16610002
MESH:D017114 Liver Failure, Acute Acetaminophen 3.7416871587 17185352
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 2.297678174
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 2.822876784 2876786 6135515
MESH:D008546 Melanoma, Experimental Acetaminophen 4.3319513568
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.7518551238 7678174
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.3118514411
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.9416049721
MESH:D010146 Pain Acetaminophen 2.8216870215
MESH:D012640 Seizures 2,6-dinitrotoluene 2.8518551238
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 2.4316049721
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 5.2010091137
MESH:D014581 Urticaria Acetaminophen 3.5810982225
Pathway ID Pathway Name
KEGG:04144 Endocytosis
REACT:11123 Membrane Trafficking
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA142672112
  • No data
    Releated disease ID Related disease Name
    PA443332Amyotrophic Lateral Sclerosis
    PA151958642FTLD
    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