AutismKB 2.0

Annotation Detail for POLG2


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Basic Information Top
Gene Symbol:POLG2 ( HP55,MTPOLB,PEOA4,POLB,POLG-BETA,POLGB )
Gene Full Name: polymerase (DNA directed), gamma 2, accessory subunit
Band: 17q23.3
Quick LinksEntrez ID:11232; OMIM: 604983; Uniprot ID:DPOG2_HUMAN; ENSEMBL ID: ENSG00000136480; HGNC ID: 9180
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
CANCER
head and neck cancer lung cancer
Hepatitis C, Chronic
INFECTION
No data
Desease Name
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of POLG2 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of POLG2 mRNAaffects expression 21346803
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 POLG2 mRNAincreases expression 20382639
D002995 Clofibric Acid [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of POLG2 mRNAaffects cotreatment|affects expression 17602206
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of POLG2 mRNAaffects cotreatment|affects expression 17602206
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of POLG2 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of POLG2 mRNAaffects cotreatment|increases expression 17942748
D001556 Lindane Lindane results in increased expression of POLG2 mRNAincreases expression 17785943
C006253 pirinixic acid pirinixic acid results in increased expression of POLG2 mRNAincreases expression 17426115
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of POLG2 mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1315322242 14514962 11752688
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2617505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.3418653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8514692618
MESH:D000236 Adenoma Diethylnitrosamine 2.966695378 10737359
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 19.0316434500 17620307 17162532 19052882 18056438 19061943
MESH:D018248 Adenoma, Liver Cell pirinixic acid 19.0316434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 19.0316835633
MESH:D000382 Agricultural Workers' Diseases Lindane 4.6512661182
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1411748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7815885639
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.4619483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.4612125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8915746008
MESH:D001943 Breast Neoplasms Diethylnitrosamine 1.9617474063
MESH:D001943 Breast Neoplasms Lindane 1.9614688026
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9620435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9616835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 4.7316705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 4.7316705839
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 4.733581430 19418558 20935162 10737359 16830150 16328049 16288022 19208518 18978308 17162532 20084675 16502159 11831363 18393292 20007298 10672840 18785209 18056438 19394651 19383236 17138121 16878318 17978847 17761372 21159647 20512989 16779866 17055752 19519916 18691550 19335982 18788625 17173139 19539802 20524982 20432363 16540662 3084413 19822196 20214788 16698587 20101231 17428255 16935385 18506893 18971187 19171122 19052882 16807293 19919837 19701751 18210153 19107877 20514400 16681979 18494052 16569478 20727157 18665156
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4716120746 18670907 18850075
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 11.996135515
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 11.9920889678
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 11.9917174075 7505956 2727394 21159647
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 9.9419052882
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 9.9416835633
MESH:D002779 Cholestasis Ethinyl Estradiol 8.2511677210 15861022 17333356 17110522 17681005 16105132 16919318
MESH:D002779 Cholestasis pirinixic acid 8.2519176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1816354765 15340226 8697196 15668235 12621046
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2417141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 15322242 20055451
MESH:D003490 Cyanosis 2,4-dinitrotoluene 11.7718551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 11.7718551238
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5118249437
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 4.3620387270
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.3617107852
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 9.4121346803 18551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 9.4121346803 18551238
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 9.4119107877
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 9.4120420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9111462148
MESH:D004487 Edema pirinixic acid 7.2312083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.2311000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2215322242 16714409 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.4212538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.219294722 10568697
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.4416302075
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1120426865
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1611564622
MESH:D005234 Fatty Liver Diethylnitrosamine 14.2821071580 20387270
MESH:D005234 Fatty Liver Ethinyl Estradiol 14.2815345470
MESH:D005234 Fatty Liver pirinixic acid 14.2820131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7111858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.2120067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4311294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.6520558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5411000095
MESH:D006529 Hepatomegaly pirinixic acid 9.1419772884 18467677 19176532 16221962
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.1416120746 15340226 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.368697196 18606429 15340226 16354765 16959395
MESH:D006943 Hyperglycemia pirinixic acid 3.3820558911
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9718850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0716569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6812013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6217937319
MESH:D007249 Inflammation Diethylnitrosamine 5.2218785209
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.2212200463 12878042
MESH:D007333 Insulin Resistance pirinixic acid 2.7616306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5416580747
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 7.9416705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 7.9416705839
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 2.9318522880 19638242 20032147 18665156 18407596
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.1915474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.1912878042
MESH:D008107 Liver Diseases Diethylnitrosamine 4.5917034775
MESH:D008107 Liver Diseases Lindane 4.591715830
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 14.987678174
MESH:D008113 Liver Neoplasms Clofibric Acid 14.9817602206
MESH:D008113 Liver Neoplasms Diethylnitrosamine 14.9818977376 19638242 19551842 20492335 18978307 12771043 19426721 16942905 20452335 19255062 20101389 21278145 20434301 21167192 20501860 12112319 18644402 21047994 18648771 21071580 19850985 2422723 19812893 10737359 19254457 19073162 19690152 19427195 19090486 20583210 19294768 19256749 15885732 19833225 15175105 2862719 18754104 20137499 20118626 20405173 19996281 19499222 19642983 9163691
MESH:D008113 Liver Neoplasms pirinixic acid 14.9820007298 16377806 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 14.9816984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 10.502876784 2876786 6135515
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 10.5019539802 18282651 16267830 18775883 18079962 9362446 17854601 3124819 21159647 18093689 2563599 17942915 19004024 18308698 18544905 19519916 17174075 18164116 19009564 19126423 18253720 16842330
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.5012151625
MESH:D008175 Lung Neoplasms Diethylnitrosamine 2.3120970405 20512841 21163286 6695378
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3119555203 11884234
MESH:D009135 Muscular Diseases pirinixic acid 3.7616239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2119151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1812213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1016411023
MESH:D009336 Necrosis 2,4-dinitrotoluene 11.3218551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 11.3218551238 7678174
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.649029167 3581430
MESH:D009369 Neoplasms Lindane 5.5716818664 12807735
MESH:D009369 Neoplasms pirinixic acid 5.5717405874
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4514600291
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 3.5120387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.4420387270
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 9.5412819281 16049721
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 9.5416049721
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.4816540662
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9111578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8018163543
MESH:D011230 Precancerous Conditions Diethylnitrosamine 3.732563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.4811118676 11222880 11896295 11399792
OMIM:610131 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 4 marker/mechanism
MESH:D011471 Prostatic Neoplasms Lindane 4.1314688026 12661182
MESH:D011537 Pruritus Ethinyl Estradiol 3.6016919318 15861022
MESH:D015427 Reperfusion Injury pirinixic acid 2.4719058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0818990726
MESH:D012640 Seizures 2,4-dinitrotoluene 10.7418551238
MESH:D012640 Seizures 2,6-dinitrotoluene 10.7418551238
MESH:D012640 Seizures Lindane 10.747539098 12842176 15475178
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1316192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.2616709447
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 1.7618456281
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3315669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2212697716
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 3.147505956
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.2416049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.2416049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 12.9610091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 12.9610091137
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5414692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7514671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5715886252
Pathway ID Pathway Name
KEGG:01100 Metabolic pathways
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA33501
    • No data
    Releated disease ID Related disease Name
    PA446471Ophthalmoplegia, Chronic Progressive External
    No data
    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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