AutismKB 2.0

Annotation Detail for HSD17B12


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Basic Information Top
Gene Symbol:HSD17B12 ( KAR,SDR12C1 )
Gene Full Name: hydroxysteroid (17-beta) dehydrogenase 12
Band: 11p11.2
Quick LinksEntrez ID:51144; OMIM: 609574; Uniprot ID:DHB12_HUMAN; ENSEMBL ID: ENSG00000149084; HGNC ID: 18646
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00140Steroid hormone biosynthesis
hsa01100Metabolic pathways
hsa01040Biosynthesis of unsaturated fatty acids
Pathway IDPathway Name
Metabolism of lipids and lipoproteins
No data
No data
Pathway IDPathway Name
500802Synthesis of very long-chain fatty acyl-CoAs
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 HSD17B12 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of HSD17B12 mRNAaffects expression 21346803
D000643 Ammonium Chloride Ammonium Chloride affects the expression of HSD17B12 mRNAaffects expression 16483693
D015113 Androstane-3,17-diol HSD17B12 protein results in increased chemical synthesis of Androstane-3,17-diolincreases chemical synthesis 17641292
D015114 Androstenediol HSD17B12 protein results in increased chemical synthesis of Androstenediolincreases chemical synthesis 17641292
D000735 Androstenedione HSD17B12 protein results in increased metabolism of Androstenedioneincreases metabolic processing 17641292
D000738 Androsterone HSD17B12 protein results in increased metabolism of Androsteroneincreases metabolic processing 17641292
C095105 bexarotene bexarotene results in increased expression of HSD17B12 mRNAincreases expression 16648578
D002118 Calcium [Calcium co-treated with Calcitriol] affects the expression of HSD17B12 mRNAaffects cotreatment|affects expression 15913539
D003687 Dehydroepiandrosterone HSD17B12 protein results in increased metabolism of Dehydroepiandrosteroneincreases metabolic processing 17641292
D004041 Dietary Fats Dietary Fats results in decreased expression of HSD17B12 mRNAdecreases expression 18042831
D002117 Calcitriol [Calcium co-treated with Calcitriol] affects the expression of HSD17B12 mRNAaffects cotreatment|affects expression 15913539
D004958 Estradiol HSD17B12 protein results in increased chemical synthesis of Estradiolincreases chemical synthesis 16166196
D004958 Estradiol HSD17B12 protein results in increased chemical synthesis of Estradiolincreases chemical synthesis 17280614
D004958 Estradiol HSD17B12 protein results in increased chemical synthesis of Estradiolincreases chemical synthesis 17641292
D004970 Estrone HSD17B12 protein results in increased metabolism of Estroneincreases metabolic processing 16166196
D004970 Estrone HSD17B12 protein results in increased metabolism of Estroneincreases metabolic processing 17280614
D004970 Estrone HSD17B12 protein results in increased metabolism of Estroneincreases metabolic processing 17641292
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of HSD17B12 mRNAaffects cotreatment|increases expression 17942748
D010126 Ozone Ozone results in decreased expression of HSD17B12 mRNAdecreases expression 16183385
C041786 palm oil palm oil results in decreased expression of HSD17B12 mRNAdecreases expression 18042831
C006253 pirinixic acid pirinixic acid results in increased expression of HSD17B12 mRNAincreases expression 17950772
20059764
18301758
C006253 pirinixic acid PPARA protein promotes the reaction [pirinixic acid results in increased expression of HSD17B12 mRNA]increases expression|increases reaction 20059764
17950772
D013739 Testosterone HSD17B12 protein results in increased chemical synthesis of Testosteroneincreases chemical synthesis 17641292
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of HSD17B12 mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of HSD17B12 mRNAincreases expression 18796159
C066340 tolcapone tolcapone binds to HSD17B12 proteinaffects binding 19783845
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.7414514962 15322242 11752688
MESH:D000138 Acidosis Ammonium Chloride 3.4518287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 3.8417505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.0118653653
MESH:D000230 Adenocarcinoma Estradiol 4.1311473722
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.1314692618
MESH:D018248 Adenoma, Liver Cell pirinixic acid 9.5416434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 9.5416835633
MESH:D000309 Adrenal Insufficiency Dehydroepiandrosterone 5.6617302879
MESH:D017109 Akathisia, Drug-Induced tolcapone 6.1911080934
MESH:D000544 Alzheimer Disease Ozone 4.5615513908
MESH:D000544 Alzheimer Disease tolcapone 4.5620150427
MESH:D000740 Anemia Tetrachlorodibenzodioxin 2.8511748828
MESH:D000987 Antisocial Personality Disorder Testosterone 5.757506515
MESH:D001161 Arteriosclerosis Dietary Fats 9.5515238619
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 9.5511256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.6015885639
MESH:D001172 Arthritis, Rheumatoid Ozone 2.5315570426
MESH:D001249 Asthma Ozone 2.6016373670 17854713
MESH:D001778 Blood Coagulation Disorders pirinixic acid 8.4319483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 8.4312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.6915340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.6915746008
MESH:D001943 Breast Neoplasms bexarotene 2.9216344269 16818667
MESH:D001943 Breast Neoplasms Calcitriol 2.9211237771
MESH:D001943 Breast Neoplasms Dietary Fats 2.9220435547
MESH:D001943 Breast Neoplasms Estradiol 2.9218497071 17289903 16675129 12948864 17018787 14630087 17261762 19861407
MESH:D001943 Breast Neoplasms Testosterone 2.9217261762
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.9220435547
MESH:D016535 Bronchial Hyperreactivity Ozone 3.5918315731 14754758 18417511 19059883 15516495 17626835 16777450
MESH:D002100 Cachexia Ozone 4.6316183385
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.3516111702
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.7116835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 4.4616705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 4.4616705839
MESH:D006528 Carcinoma, Hepatocellular Estradiol 4.4616924424
MESH:D002289 Carcinoma, Non-Small-Cell Lung bexarotene 3.1916247446
MESH:D002294 Carcinoma, Squamous Cell Calcitriol 2.5911237771
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3118850075 18670907 16120746
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 6.416135515
MESH:D002471 Cell Transformation, Neoplastic Estradiol 6.4118566989
MESH:D002659 Child Development Disorders, Pervasive Androstenedione 6.8321398041
MESH:D002659 Child Development Disorders, Pervasive Testosterone 6.8320678186
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.0716835633
MESH:D002779 Cholestasis Ethinyl Estradiol 7.4717110522 17681005 17333356 16919318 15861022 16105132 11677210
MESH:D002779 Cholestasis pirinixic acid 7.4719176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.0615668235 8697196 16354765 15340226 12621046
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 2.9614669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2510048152 15322242 20055451
MESH:D003490 Cyanosis 2,4-dinitrotoluene 10.5318551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 10.5318551238
MESH:D003866 Depressive Disorder tolcapone 4.237768276 11224284
MESH:D003865 Depressive Disorder, Major tolcapone 4.8110440460
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.3818249437
MESH:D003922 Diabetes Mellitus, Type 1 Dehydroepiandrosterone 3.6616616286
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6417107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.3219279558
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 8.7521346803 18551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 8.7518551238 21346803
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 8.7520420201
MESH:D056486 Drug-Induced Liver Injury tolcapone 8.7516604736 19783845
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.6811462148
MESH:D004409 Dyskinesia, Drug-Induced tolcapone 5.2911455177
MESH:D050171 Dyslipidemias Dietary Fats 3.3718367378
MESH:D004487 Edema pirinixic acid 6.2012083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 6.2011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 3.8016714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Calcitriol 8.7315138306
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 8.7312538720
MESH:D016889 Endometrial Neoplasms Estradiol 2.9111473722 19148513 18566989
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 2.9210568697 9294722
MESH:D054908 Extensively Drug-Resistant Tuberculosis tolcapone 5.8419578428
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 2.9311564622
MESH:D005234 Fatty Liver Dietary Fats 12.4618296743 17967931 19004024 19551842
MESH:D005234 Fatty Liver Ethinyl Estradiol 12.4615345470
MESH:D005234 Fatty Liver pirinixic acid 12.4620131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.3511858732
MESH:D005355 Fibrosis Dietary Fats 8.2618296743
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 8.2620067830
MESH:D005391 Firesetting Behavior Testosterone 5.757506515
MESH:D005909 Glioblastoma Testosterone 3.9817162496
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.4910696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.2710048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.4720558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.2311000095
MESH:D006529 Hepatomegaly pirinixic acid 7.9018467677 19772884 19176532 16221962
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 7.9015340226 12621046 16120746
MESH:D006558 Herpes Genitalis Estradiol 4.9315709030
MESH:D006628 Hirsutism Testosterone 5.5517019078
MESH:D019584 Hot Flashes Estradiol 3.6517088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 3.948697196 16354765 15340226 18606429 16959395
MESH:D017588 Hyperandrogenism Testosterone 5.2017019078
MESH:D006937 Hypercholesterolemia Dietary Fats 3.4921332399
MESH:D006943 Hyperglycemia pirinixic acid 3.0820558911
MESH:D006949 Hyperlipidemias Dietary Fats 3.5121332399
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.8718850075 18670907
MESH:D007006 Hypogonadism Testosterone 4.5112002444
MESH:D007018 Hypopituitarism Testosterone 6.1017426086
MESH:D007021 Hypospadias Ethinyl Estradiol 3.7016945680 16569931
MESH:D007174 Impulse Control Disorders Testosterone 5.757506515
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.3612013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.4117937319
MESH:D007249 Inflammation Dietary Fats 4.7320412841
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 4.7312200463 12878042
MESH:D007333 Insulin Resistance Dietary Fats 11.8818457598 11836018
MESH:D007333 Insulin Resistance Estradiol 11.8816393666 16627594
MESH:D007333 Insulin Resistance pirinixic acid 11.8816306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.2316580747
MESH:D007674 Kidney Diseases Estradiol 2.5215618244
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 17.0916705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 17.0916705839
MESH:D007680 Kidney Neoplasms Estradiol 17.0915610895
MESH:D007680 Kidney Neoplasms Estrone 17.0915610895
MESH:D007683 Kidney Tubular Necrosis, Acute Calcium 4.9416316344
MESH:D008103 Liver Cirrhosis Dietary Fats 2.8218296743
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 3.3014659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.3015474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.3012878042
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 10.397678174
MESH:D008113 Liver Neoplasms Dehydroepiandrosterone 10.3918709148
MESH:D008113 Liver Neoplasms pirinixic acid 10.3916377806 20007298 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 10.3916984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 9.552876784 6135515 2876786
MESH:D008114 Liver Neoplasms, Experimental Dehydroepiandrosterone 9.558603461
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 9.5512151625
MESH:D008171 Lung Diseases Ozone 3.3019066396 8266340
MESH:D055370 Lung Injury Ozone 3.7420417186
MESH:D008175 Lung Neoplasms bexarotene 3.4517849452
MESH:D008175 Lung Neoplasms Ozone 3.457614698 8597069
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.4519555203 11884234
MESH:D016410 Lymphoma, T-Cell, Cutaneous bexarotene 5.0411161223
MESH:D008325 Mammary Neoplasms, Experimental bexarotene 9.8015591091 19196723 19196722
MESH:D008325 Mammary Neoplasms, Experimental Dehydroepiandrosterone 9.8016457693
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 9.8011408345 11807958 17203775 16891317
MESH:D020149 Manganese Poisoning Estradiol 4.3819453300
MESH:D008679 Metaplasia Ozone 5.0010496685
MESH:D009135 Muscular Diseases pirinixic acid 3.4016239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.1019151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 2.9312213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 7.9716810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 7.9716411023
MESH:D009336 Necrosis 2,4-dinitrotoluene 9.9818551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 9.9818551238 7678174
MESH:D009369 Neoplasms pirinixic acid 1.9017405874
MESH:D009376 Neoplasms, Hormone-Dependent bexarotene 4.6819196722
MESH:D009389 Neovascularization, Pathologic Estradiol 3.6217289903
MESH:D009421 Nervous System Malformations Estradiol 9.1111399458 16427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 9.1114600291
MESH:D009765 Obesity Dietary Fats 4.3421332399 20132043 17217161 11836018 19632207 18457598 16723640 20518802 18674790
MESH:D009765 Obesity pirinixic acid 4.3420558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 8.5612819281 16049721
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 8.5616049721
MESH:D010024 Osteoporosis Calcium 3.7117882678
MESH:D015663 Osteoporosis, Postmenopausal Dehydroepiandrosterone 4.9216397352
MESH:D010051 Ovarian Neoplasms Estradiol 2.1919401270
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.5811578682
MESH:D010300 Parkinson Disease tolcapone 3.5618328768 1977408 19578428 8635184 17089403 16758261 11432539 9305320 9754991 20216409 8739811 9591521 20334432 9708959 11586115 11793426 9333106 19783845 7566641 11746615 10651109
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.1412520081
MESH:D010538 Peritonitis Ozone 4.0216369182
MESH:D011014 Pneumonia Ozone 4.2918007984 18929643 18381685
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.4518163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.0811399792 11896295 11222880 11118676
MESH:D011470 Prostatic Hyperplasia Calcitriol 4.6715572423
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 10.5220887781
MESH:D019048 Prostatic Intraepithelial Neoplasia Testosterone 10.5220887781
MESH:D011471 Prostatic Neoplasms Calcitriol 3.3616289102 12479363 15754350 16644109 18247401
MESH:D011471 Prostatic Neoplasms Estradiol 3.3616740699
MESH:D011537 Pruritus Ethinyl Estradiol 3.2015861022 16919318
MESH:D015427 Reperfusion Injury pirinixic acid 2.3319058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.7318990726
MESH:D012640 Seizures 2,4-dinitrotoluene 5.6218551238
MESH:D012640 Seizures 2,6-dinitrotoluene 5.6218551238
MESH:D012735 Sexual Dysfunction, Physiological Testosterone 6.1016631401
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 1.9916192470
MESH:D013088 Spermatocele Ethinyl Estradiol 3.8416709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.5211994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.0615669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 3.8012697716
MESH:D013978 Tibial Fractures Estradiol 4.5819048282
MESH:D018088 Tuberculosis, Multidrug-Resistant tolcapone 5.8419578428
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 4.8716049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 4.8716049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 11.6310091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 11.6310091137
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.1914692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.4912125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.4414671159 15869587
MESH:D014820 Vitiligo tolcapone 5.0810573327
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.1415886252
MESH:D015430 Weight Gain Dietary Fats 3.6416723640
Pathway ID Pathway Name
KEGG:01040 Biosynthesis of unsaturated fatty acids
KEGG:01100 Metabolic pathways
REACT:22258 Metabolism of lipids and lipoproteins
KEGG:00140 Steroid hormone biosynthesis
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  (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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