AutismKB 2.0

Annotation Detail for ABCD2


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Basic Information Top
Gene Symbol:ABCD2 ( ABC39,ALDL1,ALDR,ALDRP,hALDR )
Gene Full Name: ATP-binding cassette, sub-family D (ALD), member 2
Band: 12q12
Quick LinksEntrez ID:225; OMIM: 601081; Uniprot ID:ABCD2_HUMAN; ENSEMBL ID: ENSG00000173208; HGNC ID: 66
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa02010ABC transporters
hsa04146Peroxisome
No data
No data
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1896Adrenoleukodystrophy
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of ABCD2 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of ABCD2 mRNAaffects expression 21346803
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of ABCD2 mRNAincreases expression 18648102
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of ABCD2 proteinaffects expression 20106945
D000643 Ammonium Chloride Ammonium Chloride affects the expression of ABCD2 mRNAaffects expression 16483693
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of ABCD2 mRNAincreases expression 20713471
D016572 Cyclosporine Cyclosporine results in decreased expression of ABCD2 mRNAdecreases expression 20106945
C060893 L 663536 L 663536 results in increased expression of ABCD2 mRNAincreases expression 18292206
D010634 Phenobarbital Phenobarbital affects the expression of ABCD2 mRNAaffects expression 19136022
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of ABCD2 mRNAaffects binding|increases activity|increases expression 19710929
C006253 pirinixic acid pirinixic acid affects the expression of ABCD2 mRNAaffects expression 19136022
C006253 pirinixic acid pirinixic acid results in increased expression of ABCD2 mRNAincreases expression 15375163
20059764
18301758
15302862
C006253 pirinixic acid PPARA protein promotes the reaction [pirinixic acid results in increased expression of ABCD2 mRNA]increases expression|increases reaction 20059764
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of ABCD2 mRNAdecreases expression 20106945
C066340 tolcapone tolcapone binds to ABCD2 proteinaffects binding 19783845
D014303 Trinitrotoluene Trinitrotoluene affects the expression of ABCD2 mRNAaffects expression 21346803
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 15.006195326
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 15.0015322242 14514962 11752688
MESH:D000014 Abnormalities, Drug-Induced Trinitrotoluene 15.007525203
MESH:D000138 Acidosis Ammonium Chloride 3.6818287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.2018653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0020127859 20464547
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 6.753712494
MESH:D000236 Adenoma Benzo(a)pyrene 6.756695378
MESH:D018248 Adenoma, Liver Cell Phenobarbital 18.0017620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 18.0016434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 18.0016835633
MESH:D017109 Akathisia, Drug-Induced tolcapone 6.4311080934
MESH:D000544 Alzheimer Disease tolcapone 3.2920150427
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0211748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.1819183758
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.1511289319 1440618
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.0419483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.0412125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.9215340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8115746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8920146248 17474063
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8920435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8616835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 9.0016705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 9.0016705839
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 9.003581430 7296757
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 9.0012619106 12907637 21507988
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 9.0020007298 20935162 6705139 17173139 1701930
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.717296757
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.0720419170
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4118850075 16120746 18670907
MESH:D002386 Cataract Trinitrotoluene 3.9114694615 15817613
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 11.476135515
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 11.477505956
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 11.4712371664
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.364080065
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2316835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 13.7319486331 9022650
MESH:D002779 Cholestasis Cyclosporine 13.7319486331
MESH:D002779 Cholestasis pirinixic acid 13.7319176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.138697196 16354765 15340226 12621046 15668235
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 9.5214669216 17141729
MESH:D000013 Congenital Abnormalities Trinitrotoluene 9.5215095906
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 20055451 10048152
MESH:D003490 Cyanosis 2,4-dinitrotoluene 19.4418551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 19.4418551238
MESH:D003490 Cyanosis Trinitrotoluene 19.4418551238
MESH:D003866 Depressive Disorder tolcapone 4.3611224284 7768276
MESH:D003865 Depressive Disorder, Major tolcapone 4.9710440460
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 2.9011906362 18759878 12868966 8970840 11298694 14531868 2524372 8156756
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4618249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.583621924 2952479
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6817107852
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 15.5918551238 21346803
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 15.5921346803 18551238
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 15.597440962 16192314 6679447 9328219 6482804 1440618 18648102 8291058 18289764 9022650 9653073 11289319 18692083
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 15.5920420201
MESH:D056486 Drug-Induced Liver Injury tolcapone 15.5916604736 19783845
MESH:D056486 Drug-Induced Liver Injury Trinitrotoluene 15.5921346803 18551238
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8211462148
MESH:D004409 Dyskinesia, Drug-Induced tolcapone 5.5311455177
MESH:D004421 Dystonia Phenobarbital 4.091851702
MESH:D004487 Edema L 663536 12.127990266
MESH:D004487 Edema pirinixic acid 12.1212083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 12.1212711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0415322242 16714409 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.1010568697 9294722
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.213659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.003922381 11558140
MESH:D004827 Epilepsy Phenobarbital 2.9320417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.616401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.367750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.143659116
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 4.433581430
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.4316530937
MESH:D054908 Extensively Drug-Resistant Tuberculosis tolcapone 6.0819578428
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0711564622
MESH:D005234 Fatty Liver Cyclosporine 7.8319224547
MESH:D005234 Fatty Liver pirinixic acid 7.8319236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5611858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.156705139
MESH:D005355 Fibrosis Cyclosporine 8.8312639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 8.8320067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.348708960
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.127505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.7310696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.5820471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.5811294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.5820558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.5415720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4211000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.616705139
MESH:D006529 Hepatomegaly Phenobarbital 21.6316109766
MESH:D006529 Hepatomegaly pirinixic acid 21.6318467677 19176532 16221962 19772884
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 21.6316120746 15340226 12621046
MESH:D006529 Hepatomegaly Trinitrotoluene 21.6315817613
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.1818606429 8697196 15340226 16354765 16959395
MESH:D006943 Hyperglycemia pirinixic acid 3.2620558911
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.0415034207
MESH:D006973 Hypertension Cyclosporine 5.0410903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.0418670907 18850075
MESH:D006976 Hypertension, Pulmonary L 663536 5.2314726295
MESH:D007248 Infertility, Male Trinitrotoluene 3.7312150543
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.8912878042 12200463
MESH:D007333 Insulin Resistance pirinixic acid 2.6816306350
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.158074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4216580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.5815604871
MESH:D007674 Kidney Diseases Cyclosporine 2.388314463 10903974 18776723
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 18.3216705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 18.3216705839
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 18.326582329
MESH:D007680 Kidney Neoplasms Cyclosporine 18.3212371664
MESH:D008103 Liver Cirrhosis Phenobarbital 2.9421047994
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.249327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.1615474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.1612878042
MESH:D008107 Liver Diseases Phenobarbital 2.1919363144
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 18.377678174
MESH:D008113 Liver Neoplasms Aflatoxin B1 18.3718177683 15890375 2125692 9163691
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 18.3720195826 21137059
MESH:D008113 Liver Neoplasms Phenobarbital 18.3721047994 8742319 19482888 15975961 19812893 19073162
MESH:D008113 Liver Neoplasms pirinixic acid 18.3715890375 20007298 16377806
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 18.3716984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 19.196135515 2876786 2876784
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 19.19598648 3712494 1399818 6587162
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 19.198603461
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 19.196150874 1399818 18308698 17172636 2563599
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 19.1912151625
MESH:D008175 Lung Neoplasms Aflatoxin B1 4.9914755239
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 4.9918569708 18520028 6695378 20464547 20064080 17053015 20869020 20135361 18816296
MESH:D008175 Lung Neoplasms L 663536 4.9915899809
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 4.9911884234 19555203
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.9216801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.2516381670
MESH:D009135 Muscular Diseases pirinixic acid 3.6116239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.1719151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0812213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0116411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.5917484760
MESH:D009336 Necrosis 2,4-dinitrotoluene 18.5018551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 18.507678174 18551238
MESH:D009336 Necrosis Trinitrotoluene 18.5018551238
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.503581430
MESH:D009369 Neoplasms Benzo(a)pyrene 4.9511141357
MESH:D009369 Neoplasms pirinixic acid 4.9517405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.5817954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.3618481113 19348381
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.3114600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 2.966679447
MESH:D009765 Obesity pirinixic acid 1.8320558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 22.2612819281 16049721
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 22.2616049721
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 22.266482804 4026338
MESH:D009784 Occupational Diseases Trinitrotoluene 22.2614694615 17852074 12819281
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.153988306
MESH:D010018 Osteomalacia Phenobarbital 4.4817016548
MESH:D010190 Pancreatic Neoplasms L 663536 6.0712384795
MESH:D010190 Pancreatic Neoplasms Phenobarbital 6.0716965848
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.597296757
MESH:D010300 Parkinson Disease tolcapone 3.621977408 20216409 9591521 9754991 9305320 11432539 16758261 11586115 8635184 17089403 20334432 9708959 11746615 19783845 19578428 11793426 18328768 10651109 8739811 9333106 7566641
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.3812520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.606228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6518163543
MESH:D011230 Precancerous Conditions Cyclosporine 9.2112371664
MESH:D011230 Precancerous Conditions Phenobarbital 9.212563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.3111399792 11896295 11118676 11222880
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9617292933
MESH:D011537 Pruritus L 663536 5.7617827870
MESH:D019310 Pseudolymphoma Phenobarbital 4.6312752131
MESH:D011565 Psoriasis Cyclosporine 2.2516882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.4219058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9318990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.433692021
MESH:D012640 Seizures 2,4-dinitrotoluene 14.5818551238
MESH:D012640 Seizures 2,6-dinitrotoluene 14.5818551238
MESH:D012640 Seizures Phenobarbital 14.5811442880 4039156 3137016 16876388
MESH:D012640 Seizures Trinitrotoluene 14.5818551238
MESH:D003294 Seizures, Febrile Phenobarbital 4.946407741
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.5919755658 10029692
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.5916192470
MESH:D013163 Splenomegaly Trinitrotoluene 5.3015817613
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0412697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 7.356587162 6582329 7505956 3712494 1399818
MESH:D013964 Thyroid Neoplasms Phenobarbital 7.351399818
MESH:D018088 Tuberculosis, Multidrug-Resistant tolcapone 6.0819578428
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 12.1516049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 12.1516049721
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 12.158074119
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 12.1517053015
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 12.3910091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 12.3910091137
MESH:D014605 Uveitis Cyclosporine 4.121336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.7312125929
MESH:D014820 Vitiligo tolcapone 5.2910573327
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.3815886252
MESH:D014985 Xerophthalmia Cyclosporine 4.5817120751
Pathway ID Pathway Name
KEGG:02010 ABC transporters
KEGG:04146 Peroxisome
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA24401
    • Releated gene ID Related gene Name
    PA24401ABCD2
    No data
    No data
    Drug Bank Top

    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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