AutismKB 2.0

Annotation Detail for PHACTR2


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Basic Information Top
Gene Symbol:PHACTR2 ( C6orf56,DKFZp686F18175,KIAA0680,MGC176642 )
Gene Full Name: phosphatase and actin regulator 2
Band: 6q24.2
Quick LinksEntrez ID:9749; OMIM: 608724; Uniprot ID:PHAR2_HUMAN; ENSEMBL ID: ENSG00000112419; HGNC ID: 20956
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of PHACTR2 mRNAaffects expression 17562736
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of PHACTR2 mRNAdecreases expression 20106945
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 decreased expression of PHACTR2 mRNAdecreases expression 19150397
D002251 Carbon Tetrachloride Carbon Tetrachloride affects the expression of PHACTR2 mRNAaffects expression 17484886
D016572 Cyclosporine Cyclosporine results in decreased expression of PHACTR2 mRNAdecreases expression 20106945
D008727 Methotrexate PHACTR2 protein affects the susceptibility to Methotrexateaffects response to substance 16217747
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of PHACTR2 mRNAaffects binding|increases activity|increases expression 19710929
D012643 Selenium Selenium results in decreased expression of PHACTR2 mRNAdecreases expression 19244175
C025643 vinclozolin vinclozolin affects the expression of PHACTR2 mRNAaffects expression 19015723
D014810 Vitamin E Vitamin E results in decreased expression of PHACTR2 mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Methotrexate 4.4812039119
MESH:D055371 Acute Lung Injury pirinixic acid 3.3018653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0220127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.746695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.7216434500
MESH:D000799 Angioedema Acetaminophen 4.1110982225
MESH:D001008 Anxiety Disorders vinclozolin 3.7819015723
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.2919183758
MESH:D001172 Arthritis, Rheumatoid Methotrexate 3.1317286800
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.3219483382
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.3920146248 17474063
MESH:D001943 Breast Neoplasms Methotrexate 2.3916978400
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 10.6616227642 16124888 10355542 16097048 3786805 16011737 16192424 16050911 15673190 15721981 18705752 15700767
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 10.6616050911
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.913084413
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 2.9118788625
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.0920419170
MESH:D002386 Cataract Acetaminophen 2.6710977129
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 6.9420889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.9412371664
MESH:D002779 Cholestasis Cyclosporine 8.1819486331
MESH:D002779 Cholestasis pirinixic acid 8.1819176532
MESH:D003092 Colitis Selenium 3.9917936198
MESH:D019465 Craniofacial Abnormalities Methotrexate 3.049562676 12039119
MESH:D019465 Craniofacial Abnormalities Vitamin E 3.0419769572
MESH:D003456 Cryptorchidism vinclozolin 4.5414966744
MESH:D003550 Cystic Fibrosis Methotrexate 4.4019747007
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4918249437
MESH:D003882 Dermatomyositis Methotrexate 5.3220191521
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.4719739265 10915739 19370779 12392966 10663392 16177239 15619225 14986274 12540782 16227642 19923254 11834606 12594235 16393943 14725611 15968718 16485898 11461765 12153990 17906064 16781746 17522070 17562736 11421492 11529661 11287661 11743745 16109766 11739529 10774834 19420014 12705907 19164858 12958197 2444490 18071297 18713872 16081117 14550746 19416960 19085960
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 6.473732212 2869522 7179309 16227642 9327722 21278145 17522070 19085960 15968718 16177239 10092053 7440962 4309450 10915739 3786805 6884620 6623471 15027814 19336974 7120509 11566570 15998439
MESH:D056486 Drug-Induced Liver Injury Selenium 6.4715131321
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3619426721
MESH:C538011 Eales disease Vitamin E 4.979068938
MESH:D004487 Edema pirinixic acid 2.6512083418
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.4820426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.4816530937
MESH:D005234 Fatty Liver Carbon Tetrachloride 14.0716045604 16239168 12631006 61145 12795759 17595544 15959796 19224547
MESH:D005234 Fatty Liver Cyclosporine 14.0719224547
MESH:D005234 Fatty Liver pirinixic acid 14.0720131406 19236843
MESH:D005355 Fibrosis Carbon Tetrachloride 9.4018705752
MESH:D005355 Fibrosis Cyclosporine 9.4012168785 12639820
MESH:D005756 Gastritis Acetaminophen 3.9416983495
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.1716973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.5716417039
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.468708960
MESH:D006086 Graft vs Host Disease Methotrexate 5.3616518429
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.9620471113
MESH:D006330 Heart Defects, Congenital Vitamin E 6.9616080930
MESH:D006333 Heart Failure pirinixic acid 7.2820558911
MESH:D006333 Heart Failure Selenium 7.2817162251
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.6615720958
MESH:D006505 Hepatitis Carbon Tetrachloride 3.7919110552 19900420
MESH:D006529 Hepatomegaly pirinixic acid 3.2119772884 16221962 19176532 18467677
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7516490937 16863852
MESH:D019584 Hot Flashes Vitamin E 4.2414716179
MESH:D006930 Hyperalgesia Acetaminophen 2.8416870215
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.7716899240
MESH:D006943 Hyperglycemia pirinixic acid 3.3420558911
MESH:D006973 Hypertension Cyclosporine 2.1510903974
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.3015338365
MESH:D007248 Infertility, Male vinclozolin 3.1516467254
MESH:D007251 Influenza, Human Selenium 11.8616624496
MESH:D007251 Influenza, Human Vitamin E 11.8616624496
MESH:D007333 Insulin Resistance pirinixic acid 2.7416306350
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.7115604871
MESH:D007674 Kidney Diseases Acetaminophen 10.5515629191 12587719
MESH:D007674 Kidney Diseases Cyclosporine 10.5518776723 10903974 8314463
MESH:D007674 Kidney Diseases Vitamin E 10.5512488133
MESH:D007676 Kidney Failure, Chronic Selenium 4.0616518626
MESH:D007680 Kidney Neoplasms Cyclosporine 2.8812371664
MESH:D007805 Language Development Disorders Methotrexate 5.299562676
MESH:D007984 Leydig Cell Tumor vinclozolin 4.9716417039
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 7.2217157831 17334410 11408273 16239168 16943688 11903743 16221502 17174718 21278145
MESH:D008103 Liver Cirrhosis Methotrexate 7.2214986274
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 3.5715052691 12632514 17944888 17922224 18156304 18395914 15876570 17761835 16015684 15730626 18481824 14748882 14716833 17714472 15123356 12389079 18263696 13678700 15959796 17869086 15996030 17698563 17976157 18251166 17823541 17766677 16027843 12898905 17640975 18277467 20821823 16136751 18420326 18210741 12609069 12632512 16011737 16638106 17525996 15673190 12666154 18472332 12667390 18187930 18317297 15925388 18418968 18006644 12445418 17708605 12741479 18472094 18205269 14620537 18705752 17805973 18166357 17481882 18279442 17631135 18054572 12546737 14716496 18412020 18395095 18376398 15893842 16192424 16033810 12649538 10355542 12958196 17721639 15818738 15057751 17557913 16097048 16248980 15362042 15931870 12586293 15338365 11481614 17900296 15650968 17565644 14512876 12445421 18339082 14724832 15370692 16116963 18429990
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.5715474484
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 3.5716169303
MESH:D008107 Liver Diseases Acetaminophen 4.0319014921 12587719 12969438 16611625 19784758 16610002 19460945 11587558
MESH:D008107 Liver Diseases Carbon Tetrachloride 4.0315720792 15830285 17285989 16246199 16964402
MESH:D017093 Liver Failure Carbon Tetrachloride 4.3815123358
MESH:D017114 Liver Failure, Acute Acetaminophen 9.9517185352 16871587
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 9.9516899240 14706259
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 7.7221137059 20195826
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 7.7219294768
MESH:D008113 Liver Neoplasms pirinixic acid 7.7215890375 16377806 20007298
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 2.7112014681 15583823
MESH:D008171 Lung Diseases Vitamin E 3.2916863852
MESH:D017563 Lung Diseases, Interstitial Methotrexate 5.2918516814
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.4718520028 18816296 17053015 20464547 6695378 18569708 20869020 20064080 20135361
MESH:D008175 Lung Neoplasms Vitamin E 2.4711062179
MESH:D008223 Lymphoma Methotrexate 4.0717352296
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.8615318939
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7819513568
MESH:D008654 Mesothelioma Selenium 2.8515107826
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.0516801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3216381670
MESH:D052016 Mucositis Methotrexate 5.5217488658
MESH:D009135 Muscular Diseases pirinixic acid 3.7216239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2019151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0816411023
MESH:D009369 Neoplasms Benzo(a)pyrene 5.0811141357
MESH:D009369 Neoplasms pirinixic acid 5.0817405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.7117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4419348381 18481113
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0118514411
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D010146 Pain Acetaminophen 2.5316870215
MESH:D010954 Plasmacytoma Selenium 5.1515087411
MESH:D011230 Precancerous Conditions Cyclosporine 3.3712371664
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 4.1318220299 19015723 18042343
MESH:D011469 Prostatic Diseases vinclozolin 5.1718220299
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.1517292933
MESH:D011471 Prostatic Neoplasms Vitamin E 3.1515084515
MESH:D011472 Prostatitis vinclozolin 5.1718629315
MESH:D011565 Psoriasis Cyclosporine 6.0816882103
MESH:D011565 Psoriasis Methotrexate 6.0817410198
MESH:D051437 Renal Insufficiency Methotrexate 4.9317352296
MESH:D015427 Reperfusion Injury pirinixic acid 2.4619058328
MESH:D012871 Skin Diseases Vitamin E 2.4818709164
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.4419755658 10029692
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.5620155912 2093021
MESH:D020521 Stroke Vitamin E 3.6616517955
MESH:D013576 Syndactyly Methotrexate 5.239562676
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2317053015
MESH:D014581 Urticaria Acetaminophen 3.1610982225
MESH:D014605 Uveitis Cyclosporine 4.251336536
MESH:D014985 Xerophthalmia Cyclosporine 4.7117120751
No data
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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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