AutismKB 2.0

Annotation Detail for PFKFB1


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Basic Information Top
Gene Symbol:PFKFB1 ( F6PK,HL2K,MGC116715,MGC116717,PFRX )
Gene Full Name: 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1
Band: Xp11.21
Quick LinksEntrez ID:5207; OMIM: 311790; Uniprot ID:F261_HUMAN; ENSEMBL ID: ENSG00000158571; HGNC ID: 8872
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00051Fructose and mannose metabolism
Pathway IDPathway Name
Metabolism of carbohydrates
Integration of energy metabolism
No data
No data
Pathway IDPathway Name
500714Integration of energy metabolism
500678Gluconeogenesis
500676Glucose metabolism
500677Glycolysis
500717PKA-mediated phosphorylation of key metabolic factors
500720PP2A-mediated dephosphorylation of key metabolic factors
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 PFKFB1 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of PFKFB1 mRNAaffects expression 21346803
C026137 3-hydroxyacetanilide 3-hydroxyacetanilide results in decreased expression of PFKFB1 mRNAdecreases expression 18544908
C043407 4-mercuribenzoate 4-mercuribenzoate affects the activity of PFKFB1 proteinaffects activity 6092364
C043407 4-mercuribenzoate 4-mercuribenzoate results in increased alkylation of PFKFB1 proteinincreases alkylation 6092364
D000082 Acetaminophen Acetaminophen affects the expression of PFKFB1 mRNAaffects expression 17562736
D000082 Acetaminophen Acetaminophen results in decreased expression of PFKFB1 mRNAdecreases expression 18544908
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of PFKFB1 proteinaffects expression 20106945
D000643 Ammonium Chloride Ammonium Chloride affects the expression of PFKFB1 mRNAaffects expression 16483693
D001205 Ascorbic Acid Ascorbic Acid inhibits the reaction [Iodoacetamide affects the activity of PFKFB1 protein]affects activity|decreases reaction 6092364
D001554 Benzene Benzene affects the expression of PFKFB1 mRNAaffects expression 15878777
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of PFKFB1 mRNAdecreases expression 20106945
D002995 Clofibric Acid Clofibric Acid affects the expression of PFKFB1 mRNAaffects expression 17602206
D016572 Cyclosporine Cyclosporine results in decreased expression of PFKFB1 mRNAdecreases expression 20106945
D004958 Estradiol Estradiol results in decreased expression of PFKFB1 mRNAdecreases expression 20106945
D005419 Flavonoids Flavonoids results in decreased expression of PFKFB1 mRNAdecreases expression 18035473
D007460 Iodoacetamide Ascorbic Acid inhibits the reaction [Iodoacetamide affects the activity of PFKFB1 protein]affects activity|decreases reaction 6092364
D007460 Iodoacetamide Iodoacetamide affects the activity of PFKFB1 proteinaffects activity 6092364
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of PFKFB1 mRNAaffects binding|decreases expression|increases activity 19710929
C006253 pirinixic acid pirinixic acid results in increased expression of PFKFB1 mRNAincreases expression 18301758
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of PFKFB1 mRNAdecreases expression 20106945
D013827 Thiabendazole Thiabendazole results in increased expression of PFKFB1 mRNAincreases expression 18539377
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.8115322242 14514962 11752688
MESH:D000138 Acidosis Ammonium Chloride 3.5218287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.0818653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.2520127859 20464547
MESH:D000230 Adenocarcinoma Estradiol 4.2511473722
MESH:D000236 Adenoma Benzo(a)pyrene 2.636695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 9.7816434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 9.7816835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 2.9111748828
MESH:D000741 Anemia, Aplastic Benzene 4.3317661222 11369114 14761424
MESH:D000799 Angioedema Acetaminophen 3.8110982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.0319183758
MESH:D001321 Autistic Disorder Acetaminophen 1.4218445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 8.6319483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 8.6312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.7615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.7315746008
MESH:D001855 Bone Marrow Diseases Benzene 5.2016183116
MESH:D001943 Breast Neoplasms Ascorbic Acid 2.3316443354
MESH:D001943 Breast Neoplasms Benzene 2.3311921183 17162533
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.3317474063 20146248
MESH:D001943 Breast Neoplasms Estradiol 2.3312948864 19861407 14630087 17261762 17289903 16675129 17018787 18497071
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.3320435547
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.4316111702
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.7616835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 8.7916705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 8.7916705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 8.793084413
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 8.7921507988 12619106 12907637
MESH:D006528 Carcinoma, Hepatocellular Estradiol 8.7916924424
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.0420419170
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3416120746 18670907 18850075
MESH:D002386 Cataract Acetaminophen 2.5510977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 10.976135515
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 10.9712371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 10.9718566989
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.1216835633
MESH:D002779 Cholestasis Cyclosporine 7.6519486331
MESH:D002779 Cholestasis pirinixic acid 7.6519176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.0816354765 12621046 8697196 15340226 15668235
MESH:D003139 Common Cold Ascorbic Acid 5.4517323712
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.0214669216 17141729
MESH:D019465 Craniofacial Abnormalities Benzene 2.6615643154
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.6610048152 20055451 15322242
MESH:D003490 Cyanosis 2,4-dinitrotoluene 10.7618551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 10.7618551238
MESH:D003872 Dermatitis Benzene 4.7315902427
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4018249437
MESH:D003924 Diabetes Mellitus, Type 2 Ascorbic Acid 4.5216506275
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.5217107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.3719279558
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 8.8321346803 18551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 8.8321346803 18551238
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 8.8317562736 10774834 19420014 16081117 18713872 14986274 19739265 11421492 11739529 12958197 10663392 19416960 11743745 18071297 19370779 17522070 12153990 11834606 16393943 16109766 10915739 12392966 12594235 12705907 16485898 19085960 14550746 16781746 19164858 15968718 12540782 16177239 2444490 16227642 19923254 14725611 11529661 11461765 17906064 15619225 11287661
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 8.8320420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.0719426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.7311462148
MESH:C538011 Eales disease Ascorbic Acid 5.459068938
MESH:D004487 Edema pirinixic acid 6.4012083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 6.4012711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 3.8715322242 16714409 18230668
MESH:D016889 Endometrial Neoplasms Estradiol 2.9518566989 11473722 19148513
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 2.989294722 10568697
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0016530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 2.9811564622
MESH:D005234 Fatty Liver Cyclosporine 7.4319224547
MESH:D005234 Fatty Liver pirinixic acid 7.4319236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.4211858732
MESH:D005355 Fibrosis Cyclosporine 8.3512168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 8.3520067830
MESH:D005756 Gastritis Acetaminophen 11.6216983495
MESH:D005756 Gastritis Iodoacetamide 11.6215046732
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.188708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.5710696789
MESH:D006330 Heart Defects, Congenital Ascorbic Acid 11.0716080930
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 11.0720471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 11.0710048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.5120558911
MESH:D006402 Hematologic Diseases Benzene 4.6116183116
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.3915720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.2911000095
MESH:D006529 Hepatomegaly pirinixic acid 8.1318467677 16221962 19772884 19176532
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.1312621046 16120746 15340226
MESH:D006548 Hernia, Diaphragmatic Ascorbic Acid 3.4616863852 16490937
MESH:D006558 Herpes Genitalis Estradiol 5.0015709030
MESH:D006734 Horse Diseases Thiabendazole 6.2416402567
MESH:D019584 Hot Flashes Estradiol 3.7217088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.028697196 16354765 18606429 16959395 15340226
MESH:D006930 Hyperalgesia Acetaminophen 2.6616870215
MESH:D006943 Hyperglycemia pirinixic acid 3.1420558911
MESH:D006973 Hypertension Benzene 8.5117940673
MESH:D006973 Hypertension Cyclosporine 8.5110903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 8.5118850075 18670907
MESH:D007249 Inflammation Flavonoids 4.9217296493
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 4.9212878042 12200463
MESH:D007333 Insulin Resistance Estradiol 7.1016627594 16393666
MESH:D007333 Insulin Resistance pirinixic acid 7.1016306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.2916580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.4115604871
MESH:D007674 Kidney Diseases Acetaminophen 9.8312587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 9.838314463 10903974 18776723
MESH:D007674 Kidney Diseases Estradiol 9.8315618244
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 17.4416705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 17.4416705839
MESH:D007680 Kidney Neoplasms Cyclosporine 17.4412371664
MESH:D007680 Kidney Neoplasms Estradiol 17.4415610895
MESH:D007938 Leukemia Benzene 3.3715935818 18335105 17119257 14694614
MESH:D007951 Leukemia, Myeloid Benzene 4.2817506065
MESH:D015470 Leukemia, Myeloid, Acute Benzene 2.6919478238
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 3.3514716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.3515474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.3512878042
MESH:D008107 Liver Diseases Acetaminophen 1.6219784758 12969438 16610002 19460945 16611625 19014921 11587558 12587719
MESH:D017114 Liver Failure, Acute Acetaminophen 3.2017185352 16871587
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 17.787678174
MESH:D008113 Liver Neoplasms Aflatoxin B1 17.789163691 18177683 15890375 2125692
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 17.7821137059 20195826
MESH:D008113 Liver Neoplasms Clofibric Acid 17.7817602206
MESH:D008113 Liver Neoplasms pirinixic acid 17.7820007298 15890375 16377806
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 17.7816984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 18.382876784 6135515 2876786
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 18.388603461
MESH:D008114 Liver Neoplasms, Experimental Ascorbic Acid 18.3818544905
MESH:D008114 Liver Neoplasms, Experimental Benzene 18.3812562636
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 18.3812151625
MESH:D008171 Lung Diseases Ascorbic Acid 3.9216863852
MESH:D017563 Lung Diseases, Interstitial Benzene 4.7814698565
MESH:D008175 Lung Neoplasms Aflatoxin B1 6.5514755239
MESH:D008175 Lung Neoplasms Ascorbic Acid 6.5516401635
MESH:D008175 Lung Neoplasms Benzene 6.5512562636
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 6.556695378 20464547 18520028 18816296 20135361 18569708 20064080 17053015 20869020
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 6.5519555203 11884234
MESH:D008223 Lymphoma Benzene 3.7017119257 17584886
MESH:D015674 Mammary Neoplasms, Animal Benzene 4.4112562636
MESH:D008325 Mammary Neoplasms, Experimental Benzene 6.1211921183
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 6.1211807958 11408345 16891317 17203775
MESH:D020149 Manganese Poisoning Estradiol 4.4519453300
MESH:D008546 Melanoma, Experimental Acetaminophen 3.5319513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.7616801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.1516381670
MESH:D009101 Multiple Myeloma Benzene 3.6317119195
MESH:D009135 Muscular Diseases pirinixic acid 3.4716239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.1219151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 2.9812213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 8.1316810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 8.1316411023
MESH:D009336 Necrosis 2,4-dinitrotoluene 10.2318551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 10.2318551238 7678174
MESH:D009349 Nematode Infections Thiabendazole 6.3916402567
MESH:D009369 Neoplasms Benzo(a)pyrene 4.7511141357
MESH:D009369 Neoplasms pirinixic acid 4.7517405874
MESH:D009389 Neovascularization, Pathologic Estradiol 3.7017289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.4117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.2418481113 19348381
MESH:D009421 Nervous System Malformations Estradiol 9.3316427766 11399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 9.3314600291
MESH:D009436 Neural Tube Defects Benzene 3.6415643154
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.8318514411
MESH:D009765 Obesity Ascorbic Acid 4.7117217161
MESH:D009765 Obesity pirinixic acid 4.7120558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 14.9412819281 16049721
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 14.9416049721
MESH:D009784 Occupational Diseases Benzene 14.9415576619 17119257 15935809 15612468 17479406 15727169 17178637 16737584 15913788
MESH:D010051 Ovarian Neoplasms Benzene 4.9912562636
MESH:D010051 Ovarian Neoplasms Estradiol 4.9919401270
MESH:D010146 Pain Acetaminophen 2.3516870215
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.2212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.5218163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.1812371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.1611118676 11222880 11896295 11399792
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 3.8420887781
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.1217292933
MESH:D011471 Prostatic Neoplasms Estradiol 3.1216740699
MESH:D011565 Psoriasis Cyclosporine 2.2116882103
MESH:D011657 Pulmonary Eosinophilia Ascorbic Acid 5.3014606601
MESH:D015427 Reperfusion Injury pirinixic acid 2.3619058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.8018990726
MESH:D012174 Retinitis Pigmentosa Ascorbic Acid 3.3016849425
MESH:D012640 Seizures 2,4-dinitrotoluene 5.7718551238
MESH:D012640 Seizures 2,6-dinitrotoluene 5.7718551238
MESH:D012871 Skin Diseases Ascorbic Acid 3.2018709164
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.4019755658 10029692
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.4016192470
MESH:D013274 Stomach Neoplasms Benzene 2.5612562636
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.5620155912 2093021
MESH:D013276 Stomach Ulcer Ascorbic Acid 3.8518726076
MESH:D020521 Stroke Ascorbic Acid 4.2516517955 16403987
MESH:D013953 Thymus Neoplasms Benzene 4.9210850423
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 3.8712697716
MESH:D013978 Tibial Fractures Estradiol 4.6619048282
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 8.1716049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 8.1716049721
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 8.1717053015
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 11.8710091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 11.8710091137
MESH:D014581 Urticaria Acetaminophen 2.9410982225
MESH:D014594 Uterine Neoplasms Benzene 4.2912562636
MESH:D014605 Uveitis Cyclosporine 3.961336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.5712125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.2215886252
MESH:D014985 Xerophthalmia Cyclosporine 4.4117120751
Pathway ID Pathway Name
KEGG:00051 Fructose and mannose metabolism
REACT:1505 Integration of energy metabolism
REACT:33953 Metabolism of carbohydrates
REACT:474 Metabolism of carbohydrates
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB02393 - D-Gluco-2,5-Anhydro-1-Deoxy-1-Phosphonohexitol-6-Phosphate
DB02515 - 3-Phosphoglycerol
DB02930 - Phosphothiophosphoric Acid-Adenylate Ester
DB04137 - Guanosine-5'-Triphosphate
DB04493 - Fructose-6-Phosphate
No data
No data
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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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