AutismKB 2.0

Annotation Detail for CHMP2A


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Basic Information Top
Gene Symbol:CHMP2A ( BC-2,BC2,CHMP2,VPS2,VPS2A )
Gene Full Name: chromatin modifying protein 2A
Band: 19q13.43
Quick LinksEntrez ID:27243; OMIM: 610893; Uniprot ID:CHM2A_HUMAN; ENSEMBL ID: ENSG00000130724; HGNC ID: 30216
Relate to Another Database: SFARIGene; denovo-db
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Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of CHMP2A mRNAdecreases expression 15336504
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of CHMP2A mRNAaffects expression 17555576
D007657 Ketone Bodies Ketone Bodies results in increased expression of CHMP2A mRNAincreases expression 16807920
D012643 Selenium Selenium results in increased expression of CHMP2A mRNAincreases expression 19244175
D018038 Sodium Selenite Sodium Selenite results in increased expression of CHMP2A mRNAincreases expression 18175754
D013629 Tamoxifen Tamoxifen affects the expression of CHMP2A mRNAaffects expression 17555576
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 5.0714745880
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.4617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8714692618
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8415885639
MESH:D001943 Breast Neoplasms Tamoxifen 2.1820065188 16202921 20859285 19011961 19289846 18855134 19155303 19221464 16273361 18351453 20135344 11161223 18821012 17893378 19288272 18815881 18629630 15668708 19103187 19084267 19200415 19142967 19066611 17440819 19059307 19487384 16818667 21138602 18425577 15565566 20005174 19189212 21152245 20544844 18984771 19189210 17261762 16873071 19244106 17049068 18997820 19410462 17242785 19115204 20390343
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.9219066611
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 1.8516924424
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.9217572228
MESH:D002779 Cholestasis Ethinyl Estradiol 3.1016919318 11677210 17681005 15861022 16105132 17333356 17110522
MESH:D019457 Chromosome Breakage Sodium Selenite 5.1715894690
MESH:D003092 Colitis Selenium 4.2017936198
MESH:D003711 Demyelinating Diseases Tamoxifen 4.7819031437
MESH:D003920 Diabetes Mellitus Sodium Selenite 4.0616285004
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.7619279558
MESH:D056486 Drug-Induced Liver Injury Selenium 4.3015131321
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 4.3015131321
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 10.2412538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 10.2419031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.2419155303 16202921 17893378 20544844
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.7915345470
MESH:D005234 Fatty Liver Tamoxifen 8.7914986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.4116709447
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.9914745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.6419069698
MESH:D006333 Heart Failure Selenium 3.2517162251
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2316945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6817937319
MESH:D007249 Inflammation Tamoxifen 2.4919457130
MESH:D007251 Influenza, Human Selenium 4.7216624496
MESH:D007333 Insulin Resistance Sodium Selenite 3.4714714311
MESH:D007676 Kidney Failure, Chronic Selenium 4.2116518626
MESH:D007680 Kidney Neoplasms Tamoxifen 3.3118625569
MESH:D008064 Lipidoses Tamoxifen 3.3717567588 15342952
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 1.7518564211
MESH:D008113 Liver Neoplasms Tamoxifen 2.3116684651
MESH:D008175 Lung Neoplasms Tamoxifen 1.7418625569
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.4114737004
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.2219428831
MESH:D008325 Mammary Neoplasms, Experimental Selenium 6.6815318939
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 6.6811731420 19196722 14580682 19196723 16827153
MESH:D020149 Manganese Poisoning Tamoxifen 5.0719453300
MESH:D008545 Melanoma Tamoxifen 1.9119393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.6415990972
MESH:D008654 Mesothelioma Selenium 2.8915107826
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6519393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.6019410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.5219189210 19196722 19200415
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.0411578682
MESH:D010954 Plasmacytoma Selenium 5.4115087411
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.2218760546
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.2215067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.7715861022 16919318
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 2.818532709
MESH:D013088 Spermatocele Ethinyl Estradiol 13.3616709447
MESH:D013088 Spermatocele Tamoxifen 13.3616709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.5019457130
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4415669648
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 2.458653321 16712894 17572228
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6814692618
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8714671159 15869587
Pathway ID Pathway Name
KEGG:04144 Endocytosis
REACT:11123 Membrane Trafficking
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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