AutismKB 2.0

Annotation Detail for PITX2


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Basic Information Top
Gene Symbol:PITX2 ( ARP1,Brx1,IDG2,IGDS,IGDS2,IHG2,IRID2,MGC111022,MGC20144,Otlx2,PTX2,RGS,RIEG,RIEG1,RS )
Gene Full Name: paired-like homeodomain 2
Band: 4q25
Quick LinksEntrez ID:5308; OMIM: 601542; Uniprot ID:PITX2_HUMAN; ENSEMBL ID: ENSG00000164093; HGNC ID: 9005
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04350TGF-beta signaling pathway
No data
Pathway IDPathway Name
200106Regulation of Wnt-mediated beta catenin signaling and target gene transcription
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1919Corneal disease
2060Glaucoma
2120Rabies
Desease Name
Atrial Fibrillation
Rieger syndrome
CARDIOVASCULAR
Atrial fibrillation/atrial flutter
VISION
Peters' anomaly
Desease Name
Atrial fibrillation/atrial flutter
Atrial fibrillation
Desease Name
Iridogoniodysgenesis, type 2
Peters anomaly
Ring dermoid of cornea
Axenfeld-Rieger syndrome, type 1
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of PITX2 mRNAaffects expression 16483693
D016572 Cyclosporine Cyclosporine results in decreased expression of PITX2 mRNAdecreases expression 20106945
D004958 Estradiol Estradiol results in decreased expression of PITX2 mRNAdecreases expression 20106945
C006253 pirinixic acid NCF1 protein promotes the reaction [pirinixic acid results in decreased expression of PITX2 mRNA]decreases expression|increases reaction 17950772
C006253 pirinixic acid pirinixic acid results in decreased expression of PITX2 mRNAdecreases expression 17950772
D011794 Quercetin Quercetin results in increased expression of PITX2 mRNAincreases expression 15309432
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin affects the expression of PITX2 mRNAaffects expression 16962184
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of PITX2 mRNAdecreases expression 16922920
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of PITX2 mRNAincreases expression 17586704
D002762 Cholecalciferol Cholecalciferol results in increased expression of PITX2 mRNAincreases expression 17170073
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.2411752688 15322242 14514962
MESH:D000138 Acidosis Ammonium Chloride 3.9518287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.4218653653
MESH:D000230 Adenocarcinoma Estradiol 2.1511473722
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.2616434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.2616835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2111748828
MESH:D000743 Anemia, Hemolytic Quercetin 4.5217084956
MESH:D001260 Ataxia Telangiectasia Quercetin 5.3715336622
MESH:D001327 Autoimmune Diseases Cholecalciferol 12.2916142846
MESH:D001327 Autoimmune Diseases Quercetin 12.2919761891
OMIM:180500 AXENFELD-RIEGER SYNDROME, TYPE 1 marker/mechanism 15378534 10644443 10502778 14630904 14623826
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.7319483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.7312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.2315340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9315746008
MESH:D001943 Breast Neoplasms Estradiol 1.8717261762 12948864 16675129 14630087 18497071 19861407 17018787 17289903
MESH:D001943 Breast Neoplasms Quercetin 1.8718628248
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8720435547
MESH:D002105 Cadmium Poisoning Quercetin 5.9916962696
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.8616111702
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0216835633
MESH:D006528 Carcinoma, Hepatocellular Estradiol 3.2516924424
MESH:D006528 Carcinoma, Hepatocellular Quercetin 3.2519519916 12508355
MESH:D021441 Carcinoma, Pancreatic Ductal Quercetin 5.3117234771
MESH:D006332 Cardiomegaly Quercetin 7.2619794523
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 7.2618670907 18850075 16120746
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.1912371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 7.1918566989
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4116835633
MESH:D002779 Cholestasis Cyclosporine 8.4419486331
MESH:D002779 Cholestasis pirinixic acid 8.4419176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2016354765 8697196 15668235 12621046 15340226
MESH:D003110 Colonic Neoplasms Quercetin 2.4519440933 15741050 11134977 16640504 17148506 19056647 17191121
MESH:D015179 Colorectal Neoplasms Quercetin 2.1918095365 18852136
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3114669216 17141729
MESH:D019465 Craniofacial Abnormalities marker/mechanism 10499585 14623826
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 15322242 10048152
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5318249437
MESH:D003921 Diabetes Mellitus, Experimental Quercetin 3.9719496084
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.6619279558
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.5920420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9611462148
MESH:D004487 Edema pirinixic acid 7.4812083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.4811000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.3516714409 15322242 18230668
MESH:D016889 Endometrial Neoplasms Estradiol 3.1518566989 11473722 19148513
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.299294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2111564622
MESH:D005234 Fatty Liver Cyclosporine 8.5119224547
MESH:D005234 Fatty Liver pirinixic acid 8.5120131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8111858732
MESH:D005355 Fibrosis Cyclosporine 16.9712168785 12639820
MESH:D005355 Fibrosis Quercetin 16.9719474275
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 16.9720067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.628708960
MESH:D005909 Glioblastoma Quercetin 3.5619804834
MESH:D005910 Glioma Quercetin 3.1417643826
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.0410696789
MESH:D006330 Heart Defects, Congenital marker/mechanism 10499585
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4611294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.6920558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8215720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6211000095
MESH:D006529 Hepatomegaly pirinixic acid 9.4816221962 19772884 19176532 18467677
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.4816120746 12621046 15340226
MESH:D006558 Herpes Genitalis Estradiol 5.4815709030
MESH:D019584 Hot Flashes Estradiol 4.1917088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.498697196 16354765 15340226 16959395 18606429
MESH:D006943 Hyperglycemia pirinixic acid 10.1420558911
MESH:D006943 Hyperglycemia Quercetin 10.1418262572 11834736
MESH:D006973 Hypertension Cyclosporine 9.1010903974
MESH:D006973 Hypertension Quercetin 9.1018356687
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 9.1018850075 18670907
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9812200463 12878042
MESH:D007251 Influenza, Human Quercetin 4.9516624496
MESH:D007333 Insulin Resistance Estradiol 7.7716393666 16627594
MESH:D007333 Insulin Resistance pirinixic acid 7.7716306350
OMIM:137600 IRIDOGONIODYSGENESIS, TYPE 2 marker/mechanism 10502778
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6216580747
MESH:D007627 Keloid Quercetin 5.3117086741
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.8815604871
MESH:D007674 Kidney Diseases Cyclosporine 10.9518776723 10903974 8314463
MESH:D007674 Kidney Diseases Estradiol 10.9515618244
MESH:D007674 Kidney Diseases Quercetin 10.9516962696
MESH:D007680 Kidney Neoplasms Cyclosporine 8.0612371664
MESH:D007680 Kidney Neoplasms Estradiol 8.0615610895
MESH:D007938 Leukemia Quercetin 3.2717468513
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 5.1614716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 5.1615474484
MESH:D008106 Liver Cirrhosis, Experimental Quercetin 5.1612741479
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 5.1612878042
MESH:D008113 Liver Neoplasms pirinixic acid 7.9215890375 20007298 16377806
MESH:D008113 Liver Neoplasms Quercetin 7.9218980244
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.9216984957
MESH:D008114 Liver Neoplasms, Experimental Quercetin 6.4619519916
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.4612151625
MESH:D008175 Lung Neoplasms Quercetin 2.4816280456
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.4811884234 19555203
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.7211807958 17203775 16891317 11408345
MESH:D020149 Manganese Poisoning Estradiol 4.9319453300
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.2316801185
MESH:D009135 Muscular Diseases pirinixic acid 3.8616239165
MESH:D009203 Myocardial Infarction pirinixic acid 6.0519151258
MESH:D009203 Myocardial Infarction Quercetin 6.0519595682
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2412213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 15.4516810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 15.4516411023
MESH:D015428 Myocardial Reperfusion Injury Quercetin 15.4519207477
MESH:D009369 Neoplasms pirinixic acid 5.4517405874
MESH:D009369 Neoplasms Quercetin 5.4515185748
MESH:D009389 Neovascularization, Pathologic Estradiol 4.1317289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.8817954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5319348381 18481113
MESH:D009421 Nervous System Malformations Estradiol 10.5816427766 11399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.5814600291
MESH:D020078 Neurogenic Inflammation Quercetin 4.6717929310
MESH:D009765 Obesity pirinixic acid 1.8620558911
MESH:D015663 Osteoporosis, Postmenopausal Quercetin 4.5219495926
MESH:D010051 Ovarian Neoplasms Estradiol 5.1919401270
MESH:D010051 Ovarian Neoplasms Quercetin 5.1919005980
MESH:D010190 Pancreatic Neoplasms Quercetin 2.9316965848
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6912520081
MESH:C537884 Peters anomaly marker/mechanism
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8918163543
MESH:D011230 Precancerous Conditions Cyclosporine 9.9412371664
MESH:D011230 Precancerous Conditions Quercetin 9.9419056647
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5911896295 11222880 11399792 11118676
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.1720887781
MESH:D011471 Prostatic Neoplasms Cholecalciferol 2.6817024972
MESH:D011471 Prostatic Neoplasms Estradiol 2.6816740699
MESH:D011471 Prostatic Neoplasms Quercetin 2.6817292933 14715546
MESH:D011565 Psoriasis Cyclosporine 2.3016882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.5019058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1718990726
MESH:C535684 Ring dermoid of cornea marker/mechanism
MESH:D012554 Schistosomiasis japonica Quercetin 5.9916862918
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1516192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.3512697716
MESH:D013978 Tibial Fractures Estradiol 5.1319048282
MESH:D014071 Tooth Abnormalities marker/mechanism 10499585
MESH:D001749 Urinary Bladder Neoplasms Quercetin 2.8916720314
MESH:D014605 Uveitis Cyclosporine 4.431336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.0412125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6915886252
MESH:D014985 Xerophthalmia Cyclosporine 4.8817120751
Pathway ID Pathway Name
KEGG:04350 TGF-beta signaling pathway
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA33339
    • No data
    Releated disease ID Related disease Name
    PA443421Arrhythmias, Cardiac
    PA443459Atrial Fibrillation
    PA159018367Brugada syndrome
    PA443633Cardiomyopathy, Hypertrophic
    PA443796Coronary Artery Disease
    PA443797Coronary Disease
    PA446379Death, Sudden, Cardiac
    PA444368Heart Diseases
    PA444807Long QT Syndrome
    PA445019Myocardial Infarction
    PA445769Sudden Infant Death
    PA445848Thromboembolism
    PA446294Torsades de Pointes
    PA446028Ventricular Fibrillation
    Releated drug ID Related drug Name
    PA164712547Beta blocking agents, selective
    PA451906warfarin
    PA164712535Beta Blocking Agents
    Drug Bank Top

    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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