AutismKB 2.0

Annotation Detail for PFKFB2


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Basic Information Top
Gene Symbol:PFKFB2 ( DKFZp781D2217,MGC138308,MGC138310,PFK-2/FBPase-2 )
Gene Full Name: 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2
Band: 1q32.1
Quick LinksEntrez ID:5208; OMIM: 171835; Uniprot ID:F262_HUMAN; ENSEMBL ID: ENSG00000123836; HGNC ID: 8873
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
No data
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C021296 2-ethoxyethanol 2-ethoxyethanol results in increased expression of PFKFB2 mRNAincreases expression 19643169
D000082 Acetaminophen Acetaminophen affects the expression of PFKFB2 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of PFKFB2 mRNAaffects expression 16483693
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 PFKFB2 mRNAincreases expression 19150397
D002251 Carbon Tetrachloride Carbon Tetrachloride affects the expression of PFKFB2 mRNAaffects expression 12734012
D002330 Carmustine Carmustine results in decreased expression of PFKFB2 mRNAdecreases expression 15980968
D015025 Zearalenone Zearalenone results in decreased expression of PFKFB2 mRNAdecreases expression 19371625
C029424 hydrazine hydrazine results in decreased expression of PFKFB2 mRNAdecreases expression 15282401
C005219 methyl cellosolve methyl cellosolve results in increased expression of PFKFB2 mRNAincreases expression 19643169
D009151 Mustard Gas Mustard Gas results in increased expression of PFKFB2 mRNAincreases expression 15674844
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of PFKFB2 mRNAaffects binding|decreases expression|increases activity 19710929
C006253 pirinixic acid pirinixic acid results in increased expression of PFKFB2 mRNAincreases expression 18445702
C025299 polyphenols polyphenols results in decreased expression of PFKFB2 mRNAdecreases expression 16293270
D015032 Zinc Zinc results in decreased expression of PFKFB2 mRNAdecreases expression 17074742
D019287 Zinc Sulfate Zinc Sulfate results in decreased expression of PFKFB2 mRNAdecreases expression 17074742
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced 2-ethoxyethanol 9.706499812 6499796 7151721 6499823 6499820
MESH:D000014 Abnormalities, Drug-Induced methyl cellosolve 9.706499812 3652986 6474471
MESH:D000138 Acidosis Ammonium Chloride 10.9018287403
MESH:D000138 Acidosis Zinc Sulfate 10.907265320
MESH:D000169 Acrodermatitis Zinc 5.4917190629 16889938 17202136
MESH:D055371 Acute Lung Injury pirinixic acid 3.1718653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.5616434500
MESH:D000544 Alzheimer Disease Zinc 2.7616410023 16325427 16580781 17119284
MESH:D000748 Anemia, Macrocytic methyl cellosolve 6.453699323
MESH:D000755 Anemia, Sickle Cell Zinc 4.9716916123
MESH:D000799 Angioedema Acetaminophen 3.9410982225
MESH:D000860 Anoxia Zinc Sulfate 5.107265320
MESH:D053627 Asthenozoospermia 2-ethoxyethanol 12.8810689203 6499823 6499807
MESH:D053627 Asthenozoospermia methyl cellosolve 12.883987992
MESH:D001249 Asthma Mustard Gas 5.2610378619
MESH:D001249 Asthma Zinc 5.2617085522
MESH:D001259 Ataxia 2-ethoxyethanol 5.517151721
MESH:D001284 Atrophy 2-ethoxyethanol 11.6315850284 6499799
MESH:D001284 Atrophy methyl cellosolve 11.633699323 6705890 2626667
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D053713 Azoospermia 2-ethoxyethanol 5.656499807 6492198
MESH:D001724 Birth Weight 2-ethoxyethanol 6.612884743 6499823
MESH:D001768 Blister Mustard Gas 5.2419167455
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.2019483382
MESH:D001836 Body Weight Changes 2-ethoxyethanol 5.816499796 7151721
MESH:D001930 Brain Injuries Zinc 4.7617109824
MESH:D001932 Brain Neoplasms Carmustine 4.4416187019
MESH:D001989 Bronchiolitis Obliterans Mustard Gas 5.2415286001
MESH:D029481 Bronchitis, Chronic Mustard Gas 5.0717687719 10378619
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 3.8515673190 16124888 16227642 3786805 15700767 16097048 18705752 10355542 15721981 16050911 16192424 16011737
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.873084413
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 2.8718788625
MESH:D002294 Carcinoma, Squamous Cell Zinc 2.9116543248
MESH:D002318 Cardiovascular Diseases Zinc 3.6916936243
MESH:D002386 Cataract Acetaminophen 2.6110977129
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.7620889678
MESH:D002764 Cholecystitis 2-ethoxyethanol 13.986499794
MESH:D002764 Cholecystitis methyl cellosolve 13.986499794
MESH:D002779 Cholestasis pirinixic acid 2.8619176532
MESH:D003110 Colonic Neoplasms polyphenols 2.6816293270
MESH:D000013 Congenital Abnormalities methyl cellosolve 4.8612530607 6499821
MESH:D019465 Craniofacial Abnormalities Zinc 2.4319302082
MESH:D003643 Death 2-ethoxyethanol 6.066499796
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4518249437
MESH:D003920 Diabetes Mellitus Zinc 4.2516479319
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.3712540782 16109766 11529661 19739265 18713872 19085960 14725611 11287661 16393943 18071297 16781746 12958197 10663392 15968718 11743745 17522070 16485898 11421492 19420014 11461765 19370779 19416960 10774834 16227642 17562736 2444490 11739529 12594235 12705907 17906064 15619225 19923254 14550746 16177239 12153990 10915739 12392966 19164858 16081117 11834606 14986274
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 6.3710092053 7440962 19336974 17522070 19085960 16227642 16177239 21278145 11566570 7179309 15968718 6884620 7120509 2869522 6623471 4309450 15998439 9327722 3732212 10915739 3786805 15027814
MESH:D056486 Drug-Induced Liver Injury polyphenols 6.3719370779
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.1919426721
MESH:D004487 Edema Mustard Gas 7.0611428631 9260866 11428647 11402378
MESH:D004487 Edema pirinixic acid 7.0612083418
MESH:D020964 Embryo Loss 2-ethoxyethanol 6.616499796
MESH:D004890 Erythema Mustard Gas 5.249357497
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.7020426865
MESH:D004938 Esophageal Neoplasms Zinc 4.7016543248
MESH:D005234 Fatty Liver Carbon Tetrachloride 7.8616045604 12795759 61145 12631006 16239168 15959796 17595544 19224547
MESH:D005234 Fatty Liver pirinixic acid 7.8620131406 19236843
MESH:D005313 Fetal Death 2-ethoxyethanol 5.452884743 7198755 6499823 7151721 6499820
MESH:D005317 Fetal Growth Retardation 2-ethoxyethanol 5.476499796
MESH:D005327 Fetal Resorption 2-ethoxyethanol 13.006499820 6499812
MESH:D005327 Fetal Resorption methyl cellosolve 13.006499821 6499812 6474471 3987992
MESH:D020567 Fetal Weight 2-ethoxyethanol 13.987151721 2884743 6499820
MESH:D020567 Fetal Weight methyl cellosolve 13.986499821 6499812 6474471
MESH:D005355 Fibrosis Carbon Tetrachloride 3.5318705752
MESH:D005532 Foot Deformities, Congenital methyl cellosolve 5.543652986
MESH:D005756 Gastritis Acetaminophen 11.5016983495
MESH:D005756 Gastritis Zinc 11.5017241300
MESH:D005909 Glioblastoma Carmustine 3.9616187019
MESH:D006130 Growth Disorders Zinc 3.9917217573
MESH:D006333 Heart Failure pirinixic acid 7.2520558911
MESH:D006333 Heart Failure Zinc 7.2517162251
MESH:D006335 Heart Injuries Zinc 5.8717074742
MESH:D006345 Heart Septal Defects, Ventricular methyl cellosolve 5.866499821
MESH:D016481 Helicobacter Infections Zinc 4.5917241300
MESH:D006402 Hematologic Diseases 2-ethoxyethanol 5.4510514026 20172899
MESH:D006461 Hemolysis 2-ethoxyethanol 12.6719051582 17874071
MESH:D006461 Hemolysis methyl cellosolve 12.6717874071
MESH:D006505 Hepatitis Carbon Tetrachloride 3.6619900420 19110552
MESH:D006527 Hepatolenticular Degeneration Zinc 11.5617276780
MESH:D006527 Hepatolenticular Degeneration Zinc Sulfate 11.5617063115
MESH:D006529 Hepatomegaly pirinixic acid 3.0719772884 16221962 19176532 18467677
MESH:D006930 Hyperalgesia Acetaminophen 2.7416870215
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.6116899240
MESH:D006943 Hyperglycemia pirinixic acid 3.2320558911
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.1615338365
MESH:D007022 Hypotension Zinc Sulfate 4.537265320
MESH:D007247 Infertility, Female 2-ethoxyethanol 5.296499823
MESH:D007248 Infertility, Male 2-ethoxyethanol 7.816499823
MESH:D007248 Infertility, Male methyl cellosolve 7.813987992
MESH:D007249 Inflammation Mustard Gas 5.5811428620 11428647 17524151 11428631 9260866 16001271 9357497 11402378 8975870
MESH:D007249 Inflammation polyphenols 5.5816366677
MESH:D007333 Insulin Resistance pirinixic acid 2.6616306350
MESH:D007511 Ischemia Zinc 4.7016584753
MESH:D007674 Kidney Diseases Acetaminophen 6.2515629191 12587719
MESH:D007674 Kidney Diseases Zinc 6.2516960431
MESH:D007676 Kidney Failure, Chronic Zinc 4.4716518626
MESH:D016773 Leishmaniasis, Cutaneous Zinc Sulfate 4.3115237267
MESH:D017880 Limb Deformities, Congenital methyl cellosolve 4.536499821
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.8311903743 17174718 16943688 16239168 11408273 17334410 21278145 17157831 16221502
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 2.3414748882 18251166 18277467 15931870 12586293 16248980 18339082 17708605 20821823 18205269 18263696 15818738 16097048 14620537 15123356 18156304 17900296 17869086 12445421 12546737 16116963 12632514 17976157 17481882 16015684 14716496 12958196 15338365 15996030 15673190 18420326 18006644 12609069 10355542 17631135 15730626 17944888 13678700 15052691 15925388 12667390 17698563 16011737 18279442 17766677 18210741 15362042 17922224 18481824 12389079 12741479 16638106 17565644 18054572 11481614 18429990 12632512 18395914 18472332 17805973 15893842 18412020 18418968 16027843 18395095 17761835 15057751 12898905 17640975 12649538 16192424 17721639 15959796 12445418 16033810 16136751 17525996 17557913 15876570 14512876 14724832 15370692 18187930 17714472 18705752 12666154 18317297 17823541 14716833 18472094 18166357 18376398 15650968
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.3415474484
MESH:D008107 Liver Diseases Acetaminophen 6.6411587558 12969438 16610002 16611625 19014921 19784758 19460945 12587719
MESH:D008107 Liver Diseases Carbon Tetrachloride 6.6417285989 16964402 15720792 15830285 16246199
MESH:D008107 Liver Diseases polyphenols 6.6416698588
MESH:D017093 Liver Failure Carbon Tetrachloride 4.2415123358
MESH:D017114 Liver Failure, Acute Acetaminophen 9.5816871587 17185352
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 9.5816899240 14706259
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 4.5019294768
MESH:D008113 Liver Neoplasms pirinixic acid 4.5015890375 20007298 16377806
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 2.6415583823 12014681
MESH:D008171 Lung Diseases Mustard Gas 3.4818702808 18161513
MESH:D008175 Lung Neoplasms Mustard Gas 2.178781369 3148597
MESH:D008231 Lymphopenia methyl cellosolve 5.863699323
MESH:D008325 Mammary Neoplasms, Experimental Zinc 3.3312773700
MESH:D008545 Melanoma Carmustine 2.8712393984
MESH:D008546 Melanoma, Experimental Acetaminophen 3.6419513568
MESH:D009135 Muscular Diseases pirinixic acid 3.5816239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.1619151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 2.9916411023
MESH:D009336 Necrosis 2-ethoxyethanol 5.4320172899
MESH:D009369 Neoplasms pirinixic acid 1.9717405874
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9118514411
MESH:D009503 Neutropenia Mustard Gas 4.037688884 16761898
MESH:D009765 Obesity pirinixic acid 1.8220558911
MESH:D009845 Oligospermia 2-ethoxyethanol 11.6620172899
MESH:D009845 Oligospermia methyl cellosolve 11.663987992
MESH:D010146 Pain Acetaminophen 2.4316870215
MESH:D011041 Poisoning Mustard Gas 3.8515727166
MESH:D011225 Pre-Eclampsia Zinc 4.2217114810
MESH:D011297 Prenatal Exposure Delayed Effects 2-ethoxyethanol 10.866499817 2884743 7198755
MESH:D011297 Prenatal Exposure Delayed Effects methyl cellosolve 10.866499817 7974496 12530607
MESH:D011471 Prostatic Neoplasms Zinc 3.8112429649 16606632 16517595 16700911
MESH:D011537 Pruritus Mustard Gas 4.1718058305
MESH:D011658 Pulmonary Fibrosis Mustard Gas 2.9417620002 17266442 10334151 17894541 17720292
MESH:D015427 Reperfusion Injury pirinixic acid 2.4119058328
MESH:D012162 Retinal Degeneration Zinc 4.1616584753
MESH:D012871 Skin Diseases Mustard Gas 2.7316961503 12880345 15451306
MESH:D013276 Stomach Ulcer 2-ethoxyethanol 4.436499799
MESH:D013705 Temporomandibular Joint Disorders polyphenols 5.3517997062
MESH:D013733 Testicular Diseases 2-ethoxyethanol 11.346499806 10048760 10514026
MESH:D013733 Testicular Diseases methyl cellosolve 11.346499806
MESH:D014062 Tongue Neoplasms Zinc 4.4516543248
MESH:D014581 Urticaria Acetaminophen 3.0310982225
Pathway ID Pathway Name
KEGG:00051 Fructose and mannose metabolism
REACT:474 Metabolism of carbohydrates
Pharmacogenomics Knowledge Base Top
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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