AutismKB 2.0

Annotation Detail for CPT2


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Basic Information Top
Gene Symbol:CPT2 ( CPT1,CPTASE )
Gene Full Name: carnitine palmitoyltransferase 2
Band: 1p32.3
Quick LinksEntrez ID:1376; OMIM: 600650; Uniprot ID:CPT2_HUMAN; ENSEMBL ID: ENSG00000157184; HGNC ID: 2330
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa03320PPAR signaling pathway
hsa00071Fatty acid metabolism
Pathway IDPathway Name
Activated AMPK stimulates fatty-acid oxidation in muscle
Metabolism of lipids and lipoproteins
No data
No data
Pathway IDPathway Name
500602Import of palmitoyl-CoA into the mitochondrial matrix
Related Diseases/Disorders Top
No data
No data
Desease Name
variable myopathy
No data
Desease Name
CPT deficiency, hepatic, type II
Myopathy due to CPT II deficiency
CPT II deficiency, lethal neonatal
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of CPT2 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of CPT2 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of CPT2 mRNAaffects expression 16483693
C095105 bexarotene bexarotene results in increased expression of CPT2 mRNAincreases expression 16648578
D001629 Bezafibrate Bezafibrate results in increased expression of CPT2 mRNAincreases expression 16707586
D002995 Clofibric Acid Clofibric Acid affects the expression of CPT2 mRNAaffects expression 17602206
D016572 Cyclosporine Cyclosporine results in decreased expression of CPT2 mRNAdecreases expression 20106945
D004281 Docosahexaenoic Acids Docosahexaenoic Acids results in increased expression of CPT2 mRNAincreases expression 19805517
D004281 Docosahexaenoic Acids PPARA protein promotes the reaction [Docosahexaenoic Acids results in increased expression of CPT2 mRNA]increases expression|increases reaction 19805517
C045761 emeriamine emeriamine results in decreased activity of CPT2 proteindecreases activity 12439634
D004958 Estradiol Estradiol results in decreased expression of CPT2 mRNAdecreases expression 20106945
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of CPT2 mRNAincreases expression 17942748
D015525 Fatty Acids, Omega-3 Fatty Acids, Omega-3 results in increased activity of CPT2 proteinincreases activity 15949695
D015525 Fatty Acids, Omega-3 Fatty Acids, Omega-3 results in increased expression of CPT2 mRNAincreases expression 15949695
D011345 Fenofibrate Fenofibrate results in increased expression of CPT2 mRNAincreases expression 16707586
D005485 Flutamide Flutamide results in decreased expression of CPT2 mRNAdecreases expression 17702527
C029424 hydrazine hydrazine results in increased expression of CPT2 mRNAincreases expression 15282401
C023036 perfluorooctanoic acid perfluorooctanoic acid results in increased expression of CPT2 mRNAincreases expression 18467677
C023036 perfluorooctanoic acid PPARA protein promotes the reaction [perfluorooctanoic acid results in increased expression of CPT2 mRNA]increases expression|increases reaction 18467677
C023036 perfluorooctanoic acid perfluorooctanoic acid results in increased expression of CPT2 mRNAincreases expression 16221955
D010480 Perhexiline Perhexiline results in decreased activity of CPT2 proteindecreases activity 12439634
C006253 pirinixic acid pirinixic acid results in increased expression of CPT2 mRNAincreases expression 17950772
15375163
17426115
18301758
C006253 pirinixic acid PPARA protein promotes the reaction [pirinixic acid results in increased expression of CPT2 mRNA]increases expression|increases reaction 17950772
C006253 pirinixic acid pirinixic acid results in increased expression of CPT2 mRNAincreases expression 16940010
16707586
C009159 rapeseed oil rapeseed oil affects the expression of CPT2 mRNAaffects expression 16177195
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of CPT2 mRNAincreases expression 19465110
C410666 tetradecylselenoacetic acid tetradecylselenoacetic acid results in increased expression of CPT2 mRNAincreases expression 17185614
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.7415322242 14514962 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:D000740 Anemia Tetrachlorodibenzodioxin 2.8511748828
MESH:D000799 Angioedema Acetaminophen 3.7410982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.3611256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.6015885639
MESH:D001289 Attention Deficit Disorder with Hyperactivity Fatty Acids, Omega-3 4.7518448859
MESH:D001321 Autistic Disorder Acetaminophen 2.4518445737
MESH:D001321 Autistic Disorder Docosahexaenoic Acids 2.4518582451
MESH:D001321 Autistic Disorder Fatty Acids, Omega-3 2.4516920077
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 1.9216818667 16344269
MESH:D001943 Breast Neoplasms Estradiol 1.9214630087 17261762 17018787 16675129 18497071 19861407 12948864 17289903
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9220435547
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.3516111702
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.7116835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 4.4116705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.413084413
MESH:D006528 Carcinoma, Hepatocellular Estradiol 4.4116924424
MESH:D002289 Carcinoma, Non-Small-Cell Lung bexarotene 3.1916247446
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3118850075 18670907 16120746
OMIM:600649 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE marker/mechanism
OMIM:255110 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET marker/mechanism
OMIM:608836 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL marker/mechanism
MESH:D002386 Cataract Acetaminophen 2.5210977129
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.3212371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 6.3218566989
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.0716835633
MESH:D002779 Cholestasis Cyclosporine 12.8719486331
MESH:D002779 Cholestasis Ethinyl Estradiol 12.8717681005 16105132 17110522 16919318 17333356 15861022 11677210
MESH:D002779 Cholestasis pirinixic acid 12.8719176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.0615668235 12621046 16354765 15340226 8697196
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 2.9617141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2510048152 20055451 15322242
MESH:D003490 Cyanosis 2,4-dinitrotoluene 3.9118551238
MESH:D003550 Cystic Fibrosis Docosahexaenoic Acids 4.5719747007
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.3818249437
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 5.9221346803 18551238
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 5.9219739265 18071297 17906064 19085960 10915739 17522070 11287661 16081117 12153990 16109766 10663392 16781746 18713872 19370779 19420014 16485898 11743745 16177239 11739529 10774834 16393943 14725611 11529661 17562736 12594235 19416960 19164858 14986274 15619225 12705907 14550746 11461765 12392966 11834606 19923254 11421492 2444490 12958197 12540782 16227642 15968718
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 5.9220420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 3.9919426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.6811462148
MESH:D050171 Dyslipidemias Fenofibrate 4.3516707586
MESH:D004487 Edema perfluorooctanoic acid 10.8712083418 17259670
MESH:D004487 Edema pirinixic acid 10.8712083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 10.8712711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 3.8018230668 16714409 15322242
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.0812538720
MESH:D016889 Endometrial Neoplasms Estradiol 7.5411473722 18566989 19148513
MESH:D016889 Endometrial Neoplasms Fenofibrate 7.5416569247
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 2.9210568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 2.9311564622
MESH:D005234 Fatty Liver Cyclosporine 12.4119224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 12.4115345470
MESH:D005234 Fatty Liver pirinixic acid 12.4120131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.3511858732
MESH:D005355 Fibrosis Cyclosporine 8.1212168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 8.1220067830
MESH:D005756 Gastritis Acetaminophen 3.5716983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.118708960
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:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.3115720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.2311000095
MESH:D006529 Hepatomegaly perfluorooctanoic acid 13.833609246
MESH:D006529 Hepatomegaly pirinixic acid 13.8319176532 19772884 16221962 18467677
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 13.8315340226 16120746 12621046
MESH:D006558 Herpes Genitalis Estradiol 4.9315709030
MESH:D019584 Hot Flashes Estradiol 3.6517088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 3.9416959395 15340226 8697196 16354765 18606429
MESH:D006930 Hyperalgesia Acetaminophen 7.5716870215
MESH:D006930 Hyperalgesia perfluorooctanoic acid 7.5712083418
MESH:D017588 Hyperandrogenism Flutamide 5.3515356085
MESH:D006943 Hyperglycemia pirinixic acid 3.0820558911
MESH:D006973 Hypertension Cyclosporine 4.8110903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 4.8118850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 3.7016945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.3612013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.4117937319
MESH:D007249 Inflammation Fatty Acids, Omega-3 8.2517296493
MESH:D007249 Inflammation perfluorooctanoic acid 8.2512083418
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 8.2512200463 12878042
MESH:D007333 Insulin Resistance Estradiol 6.9616627594 16393666
MESH:D007333 Insulin Resistance pirinixic acid 6.9616306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.2316580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.3415604871
MESH:D007674 Kidney Diseases Acetaminophen 9.6112587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 9.6118776723 10903974 8314463
MESH:D007674 Kidney Diseases Estradiol 9.6115618244
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 11.8416705839
MESH:D007680 Kidney Neoplasms Cyclosporine 11.8412371664
MESH:D007680 Kidney Neoplasms Estradiol 11.8415610895
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell Docosahexaenoic Acids 4.9017077332
MESH:D007984 Leydig Cell Tumor perfluorooctanoic acid 5.128812269
MESH:D008064 Lipidoses Perhexiline 5.1415342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 4.8614659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental Fenofibrate 4.8615474484
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 4.8615474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 4.8612878042
MESH:D008107 Liver Diseases Acetaminophen 4.2912969438 16610002 19014921 16611625 19460945 11587558 12587719 19784758
MESH:D008107 Liver Diseases Docosahexaenoic Acids 4.2917056761
MESH:D017114 Liver Failure, Acute Acetaminophen 3.1417185352 16871587
MESH:D008113 Liver Neoplasms Clofibric Acid 13.8317602206
MESH:D008113 Liver Neoplasms Fenofibrate 13.8318978307
MESH:D008113 Liver Neoplasms perfluorooctanoic acid 13.8314757943 18709148
MESH:D008113 Liver Neoplasms pirinixic acid 13.8320007298 16377806 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 13.8316984957
MESH:D008114 Liver Neoplasms, Experimental Fenofibrate 5.9118253720 18775883
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 5.9112151625
MESH:D008175 Lung Neoplasms bexarotene 2.5017849452
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.5019555203 11884234
MESH:D016410 Lymphoma, T-Cell, Cutaneous bexarotene 5.0411161223
MESH:D016778 Malaria, Falciparum Perhexiline 5.8616882315
MESH:D008325 Mammary Neoplasms, Experimental bexarotene 6.0219196723 19196722 15591091
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 6.0216891317 11807958 17203775 11408345
MESH:D020149 Manganese Poisoning Estradiol 4.3819453300
MESH:D008546 Melanoma, Experimental Acetaminophen 3.4619513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.6816801185
MESH:D009135 Muscular Diseases Bezafibrate 10.3716239165
MESH:D009135 Muscular Diseases pirinixic acid 10.3716239165
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 3.7518551238
MESH:D009369 Neoplasms pirinixic acid 1.9017405874
MESH:D009376 Neoplasms, Hormone-Dependent bexarotene 4.6819196722
MESH:D009389 Neovascularization, Pathologic Estradiol 3.6217289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.3417954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.1919348381 18481113
MESH:D009421 Nervous System Malformations Estradiol 9.1116427766 11399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 9.1114600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.7818514411
MESH:D052556 Niemann-Pick Disease, Type C perfluorooctanoic acid 4.849802331
MESH:D009765 Obesity pirinixic acid 1.7920558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.3312819281 16049721
MESH:D010051 Ovarian Neoplasms Estradiol 2.1919401270
MESH:D010146 Pain Acetaminophen 2.3016870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.5811578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.1412520081
MESH:D011085 Polycystic Ovary Syndrome Flutamide 4.9015356085
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.4518163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.1312371664
MESH:D011297 Prenatal Exposure Delayed Effects perfluorooctanoic acid 9.3117132714
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 9.3111222880 11896295 11399792 11118676
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 3.7820887781
MESH:D011471 Prostatic Neoplasms Estradiol 3.6716740699
MESH:D011471 Prostatic Neoplasms Flutamide 3.673169114
MESH:D011537 Pruritus Ethinyl Estradiol 3.2016919318 15861022
MESH:D011565 Psoriasis Cyclosporine 2.1916882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.3319058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.7318990726
MESH:D012640 Seizures 2,4-dinitrotoluene 2.4618551238
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 1.9916192470
MESH:D013088 Spermatocele Ethinyl Estradiol 3.8416709447
MESH:D013274 Stomach Neoplasms Docosahexaenoic Acids 3.0619015929
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:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 2.2416049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.2110091137
MESH:D014581 Urticaria Acetaminophen 2.8710982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.1914692618
MESH:D014605 Uveitis Cyclosporine 3.881336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.4912125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.4414671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.1415886252
MESH:D014985 Xerophthalmia Cyclosporine 4.3417120751
Pathway ID Pathway Name
REACT:11163 Activated AMPK stimulates fatty-acid oxidation in muscle
KEGG:00071 Fatty acid metabolism
REACT:22258 Metabolism of lipids and lipoproteins
KEGG:03320 PPAR signaling pathway
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA26849
    • No data
    Releated disease ID Related disease Name
    PA444997Muscular Diseases
    PA157379134Myalgia unspecified
    PA444516Hypercholesterolemia
    PA444528Hyperlipidemias
    PA445028Myositis
    PA445549Rhabdomyolysis
    Releated drug ID Related drug Name
    PA448500atorvastatin
    PA448897cerivastatin
    PA449688fluvastatin
    PA451089pravastatin
    PA134308647rosuvastatin
    PA451363simvastatin
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00583 - L-Carnitine Vitamins (Vitamin B Complex);Nootropic Agents;Metabolite;Nutraceutical;Vitamin B Complex
    DB01074 antagonist Perhexiline Vasodilator Agents;Calcium Channel Blockers;Cardiovascular Agents
    DB03122 - B-Octylglucoside Detergents
    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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