AutismKB 2.0

Annotation Detail for CCBL2


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Basic Information Top
Gene Symbol:CCBL2 ( DKFZp547N1117,DKFZp667D0223,KAT3,KATIII,MGC9398,RP4-531M19.2 )
Gene Full Name: cysteine conjugate-beta lyase 2
Band: 1p22.2
Quick LinksEntrez ID:56267; OMIM: 610656; Uniprot ID:KAT3_HUMAN; ENSEMBL ID: ENSG00000137944; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00380Tryptophan metabolism
hsa01100Metabolic pathways
No data
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 CCBL2 mRNAaffects expression 17562736
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in increased expression of CCBL2 mRNAincreases expression 19150397
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of CCBL2 mRNAincreases expression 17942748
17555576
D016685 Mitomycin CCBL2 protein affects the susceptibility to Mitomycinaffects response to substance 16217747
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of CCBL2 mRNAaffects binding|decreases expression|increases activity 19710929
C006253 pirinixic acid pirinixic acid results in increased expression of CCBL2 mRNAincreases expression 18301758
D013629 Tamoxifen Tamoxifen affects the expression of CCBL2 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:D055371 Acute Lung Injury pirinixic acid 3.4718653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8714692618
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.9416434500
MESH:D000799 Angioedema Acetaminophen 4.3610982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8415885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.4719483382
MESH:D001943 Breast Neoplasms Tamoxifen 2.1818425577 18821012 21152245 17242785 16873071 18997820 19200415 16273361 19289846 20065188 19288272 19221464 19103187 19189212 20005174 18351453 17440819 16202921 18984771 19011961 20859285 19066611 15668708 19155303 19115204 19059307 19084267 16818667 19487384 18629630 20544844 17893378 15565566 18815881 17049068 11161223 19410462 20135344 21138602 19189210 20390343 19142967 17261762 19244106 18855134
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.9219066611
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.963084413
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 2.9616924424
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.9217572228
MESH:D002386 Cataract Acetaminophen 2.7510977129
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.9320889678
MESH:D002779 Cholestasis Ethinyl Estradiol 8.5216105132 17110522 15861022 17333356 11677210 17681005 16919318
MESH:D002779 Cholestasis pirinixic acid 8.5219176532
MESH:D003711 Demyelinating Diseases Tamoxifen 4.7819031437
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5518249437
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.7619279558
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6516393943 12594235 12153990 11421492 12540782 11834606 18713872 16109766 14550746 10915739 10774834 19420014 10663392 2444490 19370779 15619225 17562736 19923254 16485898 14986274 12392966 12958197 11743745 17906064 19739265 19085960 11739529 17522070 18071297 16177239 12705907 16081117 11461765 19164858 11287661 16227642 19416960 15968718 11529661 14725611 16781746
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.6219426721
MESH:D004487 Edema pirinixic acid 2.8012083418
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 10.2412538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 10.2419031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.2420544844 19155303 17893378 16202921
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1320426865
MESH:D005234 Fatty Liver Ethinyl Estradiol 15.0115345470
MESH:D005234 Fatty Liver pirinixic acid 15.0120131406 19236843
MESH:D005234 Fatty Liver Tamoxifen 15.0119224547 14986274
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.4116709447
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.9914745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.6419069698
MESH:D005756 Gastritis Acetaminophen 4.1916983495
MESH:D006333 Heart Failure pirinixic acid 2.7120558911
MESH:D006529 Hepatomegaly pirinixic acid 3.4119772884 16221962 19176532 18467677
MESH:D006930 Hyperalgesia Acetaminophen 2.9516870215
MESH:D006943 Hyperglycemia pirinixic acid 3.4920558911
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2316569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6817937319
MESH:D007249 Inflammation Tamoxifen 2.4919457130
MESH:D007333 Insulin Resistance pirinixic acid 2.8216306350
MESH:D007674 Kidney Diseases Acetaminophen 2.3615629191 12587719
MESH:D007680 Kidney Neoplasms Tamoxifen 3.3118625569
MESH:D008064 Lipidoses Tamoxifen 3.3717567588 15342952
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.4015474484
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 2.4018564211
MESH:D008107 Liver Diseases Acetaminophen 1.6911587558 16611625 16610002 12969438 12587719 19784758 19014921 19460945
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5417185352 16871587
MESH:D008113 Liver Neoplasms Mitomycin 8.1315113037
MESH:D008113 Liver Neoplasms pirinixic acid 8.1320007298 15890375 16377806
MESH:D008113 Liver Neoplasms Tamoxifen 8.1316684651
MESH:D008175 Lung Neoplasms Tamoxifen 1.7418625569
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.2219428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.8119196723 19196722 16827153 11731420 14580682
MESH:D020149 Manganese Poisoning Tamoxifen 5.0719453300
MESH:D008545 Melanoma Tamoxifen 1.9119393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.6415990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9819513568
MESH:D009135 Muscular Diseases pirinixic acid 3.9216239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2519151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1916411023
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6519393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.6019410462
MESH:D009369 Neoplasms pirinixic acid 2.0817405874
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.5219189210 19196722 19200415
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1418514411
MESH:D009765 Obesity pirinixic acid 1.8720558911
MESH:D010146 Pain Acetaminophen 2.6516870215
MESH:D010190 Pancreatic Neoplasms Mitomycin 3.5415113037
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.0411578682
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.1015067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.7715861022 16919318
MESH:D015427 Reperfusion Injury pirinixic acid 2.5219058328
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 2.4517572228 8653321 16712894
MESH:D014581 Urticaria Acetaminophen 3.3310982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6814692618
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8714671159 15869587
Pathway ID Pathway Name
KEGG:01100 Metabolic pathways
REACT:13 Metabolism of amino acids and derivatives
KEGG:00450 Selenocompound metabolism
KEGG:00380 Tryptophan metabolism
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB00114 - Pyridoxal Phosphate Dietary supplement;Micronutrient;Vitamin B Complex
DB00142 - L-Glutamic Acid Dietary supplement;Micronutrient;Non-Essential Amino Acids
No data
No data
No data

Simple Query:


  (e.g. CHD8)

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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