AutismKB 2.0

Annotation Detail for BDH2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:BDH2 ( DHRS6,EFA6R,FLJ13261,PRO20933,SDR15C1,UCPA-OR,UNQ6308 )
Gene Full Name: 3-hydroxybutyrate dehydrogenase, type 2
Band: 4q24
Quick LinksEntrez ID:56898; OMIM: NA; Uniprot ID:BDH2_HUMAN; ENSEMBL ID: ENSG00000164039; HGNC ID: 32389
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY66-368ketolysis
Pathway IDPathway Name
hsa01100Metabolic pathways
hsa00650Butanoate metabolism
hsa00072Synthesis and degradation of ketone bodies
No data
No data
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of BDH2 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of BDH2 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of BDH2 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 BDH2 mRNAincreases expression 20382639
D002995 Clofibric Acid [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of BDH2 mRNAaffects cotreatment|affects expression 17602206
D016572 Cyclosporine Cyclosporine results in decreased expression of BDH2 mRNAdecreases expression 20106945
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of BDH2 mRNAaffects cotreatment|affects expression 17602206
D008748 Methylcholanthrene Methylcholanthrene results in decreased expression of BDH2 mRNAdecreases expression 20713471
C030110 oxaliplatin oxaliplatin results in increased expression of BDH2 mRNAincreases expression 16510598
D010634 Phenobarbital NR1I3 protein affects the reaction [Phenobarbital results in decreased expression of BDH2 mRNA]affects reaction|decreases expression 19482888
D010634 Phenobarbital Phenobarbital results in decreased expression of BDH2 mRNAdecreases expression 19482888
D010656 Phenylephrine Phenylephrine results in decreased expression of BDH2 mRNAdecreases expression 18158353
D012643 Selenium Selenium results in decreased expression of BDH2 mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 3.596195326
MESH:D000236 Adenoma Diethylnitrosamine 7.1410737359 6695378
MESH:D000236 Adenoma Methylcholanthrene 7.146695378 10545420
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 10.8019052882 17620307 16434500 17162532 19061943 18056438
MESH:D018248 Adenoma, Liver Cell Phenobarbital 10.8017620307
MESH:D000799 Angioedema Acetaminophen 4.0210982225
MESH:D001145 Arrhythmias, Cardiac Phenylephrine 4.2117460149
MESH:D050197 Atherosclerosis Methylcholanthrene 3.5111922910
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001919 Bradycardia Phenylephrine 4.7015306635
MESH:D001943 Breast Neoplasms Diethylnitrosamine 2.3917474063
MESH:D001943 Breast Neoplasms Methylcholanthrene 2.3917474063
MESH:D002277 Carcinoma Methylcholanthrene 4.0510545420
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 9.0416705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 9.0416705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 9.043084413
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 9.0420524982 16878318 18978308 19701751 20007298 18788625 20727157 19919837 16502159 18506893 10737359 16935385 19418558 17978847 18056438 19171122 16681979 17138121 16540662 17055752 20101231 16288022 20214788 17173139 18665156 20514400 18971187 10672840 20512989 17761372 19107877 3084413 16569478 3581430 16698587 20084675 19208518 18210153 19383236 11831363 16328049 19052882 17162532 19822196 18691550 18785209 18494052 16807293 20432363 21159647 16830150 16779866 19519916 18393292 17428255 19539802 19335982 19394651 20935162
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 9.041701930 20935162 20007298 6705139 17173139
MESH:D006332 Cardiomegaly Phenylephrine 3.5911754973 16170337 15728586 17287366 17124262 11179087
MESH:D002386 Cataract Acetaminophen 2.6410977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 21.926135515
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 21.9220889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 21.9212371664
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 21.927505956 2727394 17174075 21159647
MESH:D002471 Cell Transformation, Neoplastic Methylcholanthrene 21.9216192471
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.394080065
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 3.7819052882
MESH:D002779 Cholestasis Cyclosporine 3.0019486331
MESH:D003092 Colitis Selenium 3.9217936198
MESH:D003110 Colonic Neoplasms oxaliplatin 3.1916024531 16510598 16004971
MESH:D015179 Colorectal Neoplasms oxaliplatin 2.9417401013 17594712 18509181 18448328 17695437 17255274
MESH:D003490 Cyanosis 2,4-dinitrotoluene 11.3618551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 11.3618551238
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 2.2120387270
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 12.3418551238 21346803
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 12.3421346803 18551238
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 12.3419085960 12958197 16109766 14550746 19164858 10663392 16177239 12540782 15968718 19416960 16393943 11287661 12594235 12705907 16485898 17906064 17562736 11461765 19370779 17522070 16081117 10915739 14986274 16781746 18713872 16227642 10774834 19739265 19923254 11834606 2444490 14725611 15619225 11421492 19420014 18071297 11739529 12153990 11743745 11529661 12392966
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 12.3419107877
MESH:D056486 Drug-Induced Liver Injury Selenium 12.3415131321
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.2719426721
MESH:D004421 Dystonia Phenobarbital 4.121851702
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.253659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.0411558140 3922381
MESH:D004827 Epilepsy Phenobarbital 2.9420417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.646401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.397750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.173659116
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.2916302075
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1020426865
MESH:D005234 Fatty Liver Cyclosporine 8.0819224547
MESH:D005234 Fatty Liver Diethylnitrosamine 8.0820387270 21071580
MESH:D005354 Fibrosarcoma Methylcholanthrene 5.0914633661 10962813
MESH:D005355 Fibrosis Cyclosporine 3.2812639820 12168785
MESH:D005756 Gastritis Acetaminophen 3.8516983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.378708960
MESH:D006333 Heart Failure Selenium 3.1417162251
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.5815720958
MESH:D006529 Hepatomegaly Phenobarbital 3.6216109766
MESH:D006930 Hyperalgesia Acetaminophen 8.3416870215
MESH:D006930 Hyperalgesia oxaliplatin 8.3417418472
MESH:D006973 Hypertension Cyclosporine 5.5010903974
MESH:D006973 Hypertension Phenylephrine 5.5012717712 8949925
MESH:D006984 Hypertrophy Phenylephrine 4.6618502941 12791704
MESH:D007249 Inflammation Diethylnitrosamine 2.4318785209
MESH:D007251 Influenza, Human Selenium 4.3716624496
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.6215604871
MESH:D007674 Kidney Diseases Acetaminophen 5.9915629191 12587719
MESH:D007674 Kidney Diseases Cyclosporine 5.9918776723 10903974 8314463
MESH:D007676 Kidney Failure, Chronic Selenium 3.9916518626
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 12.9116705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 12.9116705839
MESH:D007680 Kidney Neoplasms Cyclosporine 12.9112371664
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 6.8319638242 18522880 18407596 20032147 18665156
MESH:D008103 Liver Cirrhosis Phenobarbital 6.8321047994
MESH:D008107 Liver Diseases Acetaminophen 6.6419784758 12969438 19460945 16610002 19014921 12587719 11587558 16611625
MESH:D008107 Liver Diseases Diethylnitrosamine 6.6417034775
MESH:D008107 Liver Diseases Phenobarbital 6.6419363144
MESH:D017114 Liver Failure, Acute Acetaminophen 3.3417185352 16871587
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 11.067678174
MESH:D008113 Liver Neoplasms Clofibric Acid 11.0617602206
MESH:D008113 Liver Neoplasms Diethylnitrosamine 11.0619638242 9163691 19812893 18754104 19499222 10737359 21278145 21047994 12112319 19690152 19426721 19833225 20452335 20405173 12771043 18644402 20137499 20492335 20434301 19256749 2422723 19073162 19996281 18977376 20101389 21167192 2862719 19294768 19255062 15885732 19254457 15175105 20583210 19642983 21071580 19551842 19427195 20501860 20118626 19850985 18978307 16942905 18648771 19090486
MESH:D008113 Liver Neoplasms Phenobarbital 11.0615975961 8742319 19073162 21047994 19812893 19482888
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 14.726135515 2876784 2876786
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 14.7217942915 18544905 18093689 19539802 3124819 16267830 19519916 19009564 21159647 18775883 18308698 18079962 17174075 9362446 17854601 2563599 18164116 19126423 18253720 16842330 19004024 18282651
MESH:D008114 Liver Neoplasms, Experimental Methylcholanthrene 14.72598648 1399818
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 14.726150874 1399818 2563599 18308698 17172636
MESH:D008175 Lung Neoplasms Diethylnitrosamine 2.7120512841 20970405 6695378 21163286
MESH:D008175 Lung Neoplasms Methylcholanthrene 2.7111893704 21163286 17909032 16337739 6695378 16271038 20512841 7750092 10545420 15390079 20970405 1399818 9230183
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.8315318939
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7119513568
MESH:D008654 Mesothelioma Selenium 2.8315107826
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.9616801185
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.6317484760
MESH:D009336 Necrosis 2,4-dinitrotoluene 10.8718551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 10.8718551238 7678174
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.603581430 9029167
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.6217954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.3819348381 18481113
MESH:D019636 Neurodegenerative Diseases Acetaminophen 8.4918514411
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 8.4920387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.2920387270
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 9.2316049721 12819281
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 9.2316049721
MESH:D010018 Osteomalacia Phenobarbital 4.5217016548
MESH:D010146 Pain Acetaminophen 2.4816870215
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 5.3816540662
MESH:D010190 Pancreatic Neoplasms Phenobarbital 5.3816965848
MESH:D010954 Plasmacytoma Selenium 5.0615087411
MESH:D011230 Precancerous Conditions Cyclosporine 15.8512371664
MESH:D011230 Precancerous Conditions Diethylnitrosamine 15.852563599
MESH:D011230 Precancerous Conditions Phenobarbital 15.852563599
MESH:D019310 Pseudolymphoma Phenobarbital 4.6712752131
MESH:D011565 Psoriasis Cyclosporine 2.2616882103
MESH:D012640 Seizures 2,4-dinitrotoluene 10.2518551238
MESH:D012640 Seizures 2,6-dinitrotoluene 10.2518551238
MESH:D012640 Seizures Phenobarbital 10.253137016 11442880 4039156 16876388
MESH:D003294 Seizures, Febrile Phenobarbital 4.986407741
MESH:D012852 Sinusitis Phenylephrine 4.867327846
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 1.7618456281
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 7.467505956
MESH:D013964 Thyroid Neoplasms Phenobarbital 7.461399818
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.1416049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.1416049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 12.5110091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 12.5110091137
MESH:D014581 Urticaria Acetaminophen 3.0910982225
MESH:D014605 Uveitis Cyclosporine 4.161336536
MESH:D014985 Xerophthalmia Cyclosporine 4.6217120751
Pathway ID Pathway Name
KEGG:00650 Butanoate metabolism
KEGG:01100 Metabolic pathways
KEGG:00072 Synthesis and degradation of ketone bodies
Pharmacogenomics Knowledge Base Top
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