AutismKB 2.0

Annotation Detail for BACE2


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Basic Information Top
Gene Symbol:BACE2 ( AEPLC,ALP56,ASP1,ASP21,BAE2,CEAP1,DRAP )
Gene Full Name: beta-site APP-cleaving enzyme 2
Band: 21q22.2-q22.3
Quick LinksEntrez ID:25825; OMIM: 605668; Uniprot ID:BACE2_HUMAN; ENSEMBL ID: ENSG00000182240; HGNC ID: 934
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa05010Alzheimer's disease
No data
No data
Pathway IDPathway Name
P00003Alzheimer disease-amyloid secretase pathway
P00004Alzheimer disease-presenilin pathway
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene results in increased expression of BACE2 mRNAincreases expression 20406850
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of BACE2 mRNAdecreases expression 15336504
D002251 Carbon Tetrachloride Carbon Tetrachloride results in decreased expression of BACE2 mRNAdecreases expression 17484886
C121718 dicyclanil dicyclanil results in increased expression of BACE2 mRNAincreases expression 15664270
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of BACE2 mRNAincreases expression 17557909
D005047 Etoposide BACE2 protein affects the susceptibility to Etoposideaffects response to substance 16217747
D016685 Mitomycin BACE2 protein affects the susceptibility to Mitomycinaffects response to substance 16217747
D008942 Mitoxantrone BACE2 protein affects the susceptibility to Mitoxantroneaffects response to substance 16217747
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3217505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8614692618
MESH:D018248 Adenoma, Liver Cell dicyclanil 5.4317162532
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7711256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8015885639
MESH:D019046 Bone Marrow Neoplasms Etoposide 5.5414601052
MESH:D001943 Breast Neoplasms Etoposide 3.0516322251
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 4.083786805 16124888 15673190 16011737 15700767 18705752 10355542 16050911 15721981 16192424 16227642 16097048
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 4.9216705839
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 4.9218788625
MESH:D006528 Carcinoma, Hepatocellular dicyclanil 4.9217162532
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 2.936135515
MESH:D002779 Cholestasis Ethinyl Estradiol 3.0517333356 17110522 16105132 15861022 16919318 11677210 17681005
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.3218551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 4.0821346803 18551238
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 4.082869522 7440962 10092053 15998439 11566570 21278145 19336974 9327722 7179309 19085960 15027814 10915739 6884620 3732212 6623471 17522070 16227642 3786805 4309450 16177239 7120509 15968718
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.4712538720
MESH:D005234 Fatty Liver Carbon Tetrachloride 8.5117595544 16239168 15959796 16045604 12795759 61145 12631006 19224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.5115345470
MESH:D005355 Fibrosis Carbon Tetrachloride 3.7618705752
MESH:D006331 Heart Diseases Mitoxantrone 4.3116019553
MESH:D006505 Hepatitis Carbon Tetrachloride 3.8819900420 19110552
MESH:D006561 Herpes Simplex Etoposide 4.9010809021
MESH:D006689 Hodgkin Disease Etoposide 4.0816200630 18180244 15147373 17606976 16135485
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.8716899240
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.3915338365
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1216569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6417937319
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 3.1816705839
MESH:D015451 Leukemia, Lymphocytic, Chronic, B-Cell Mitoxantrone 3.8718172266
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.9216221502 21278145 16239168 11903743 11408273 17174718 16943688 17334410 17157831
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 1.7517481882 12445418 17557913 14512876 12666154 14620537 14748882 18166357 17823541 18481824 16136751 15650968 12632514 18317297 12898905 16097048 15730626 12389079 12546737 17922224 18277467 15893842 15673190 15925388 17761835 20821823 18472094 15057751 12649538 16116963 16015684 17900296 16248980 17565644 18210741 16033810 18395914 18006644 17805973 15370692 18412020 17698563 18472332 11481614 15338365 17944888 17869086 16638106 14716496 18054572 17640975 18705752 12586293 15931870 12667390 14724832 18339082 18418968 17714472 12445421 15818738 12609069 18205269 15876570 12958196 17708605 18279442 16192424 13678700 12741479 18156304 15362042 17631135 16027843 17976157 15052691 15123356 18395095 12632512 18251166 14716833 17766677 17525996 18263696 10355542 15959796 18187930 18429990 18376398 15996030 17721639 16011737 18420326
MESH:D008107 Liver Diseases Carbon Tetrachloride 2.1316964402 16246199 17285989 15830285 15720792
MESH:D017093 Liver Failure Carbon Tetrachloride 4.4715123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 3.9216899240 14706259
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 11.487678174
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 11.4819294768
MESH:D008113 Liver Neoplasms dicyclanil 11.4820118626
MESH:D008113 Liver Neoplasms Mitomycin 11.4815113037
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.392876786 2876784 6135515
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 6.3912014681 15583823
MESH:D008223 Lymphoma Etoposide 4.0912556972 12854902
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.207678174 18551238
MESH:D009369 Neoplasms Mitoxantrone 3.5216640825
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.6616049721
MESH:D010190 Pancreatic Neoplasms Etoposide 6.1719003803
MESH:D010190 Pancreatic Neoplasms Mitomycin 6.1715113037
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9511578682
MESH:D011471 Prostatic Neoplasms Etoposide 3.9817172428
MESH:D011537 Pruritus Ethinyl Estradiol 3.6516919318 15861022
MESH:D012512 Sarcoma, Ewing's Etoposide 4.9914601052
MESH:D012640 Seizures 2,6-dinitrotoluene 2.6918551238
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 2.798532709
MESH:D013088 Spermatocele Ethinyl Estradiol 4.3216709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3715669648
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 2.3716049721
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.6610091137
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5814692618
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7815869587 14671159
Pathway ID Pathway Name
KEGG:05010 Alzheimer's disease
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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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