AutismKB 2.0

Annotation Detail for NR2E3


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Basic Information Top
Gene Symbol:NR2E3 ( ESCS,MGC49976,PNR,RNR,RP37,rd7 )
Gene Full Name: nuclear receptor subfamily 2, group E, member 3
Band: 15q23
Quick LinksEntrez ID:10002; OMIM: 604485; Uniprot ID:NR2E3_HUMAN; ENSEMBL ID: ENSG00000031544; HGNC ID: 7974
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
Gene Expression
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Related Diseases/Disorders Top
No data
Desease IDDesease Name
2178Retinal disease
No data
No data
Desease Name
Retinitis pigmentosa-37
Enhanced S-cone syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C006780 bisphenol A bisphenol A affects the expression of NR2E3 mRNAaffects expression 14967926
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of NR2E3 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of NR2E3 mRNAaffects cotreatment|increases expression 17942748
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of NR2E3 mRNAaffects binding|increases activity|increases expression 19710929
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of NR2E3 mRNAaffects cotreatment|increases expression 17942748
D013752 Tetracycline Tetracycline results in increased expression of NR2E3 mRNAincreases expression 16917069
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3815322242 11752688 14514962
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.5517505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.5218653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8814692618
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.7716434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.7716835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2911748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.9511256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8615885639
MESH:D001778 Blood Coagulation Disorders pirinixic acid 10.0419483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 10.0412125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.4015340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9715746008
MESH:D001862 Bone Resorption bisphenol A 4.2411985600
MESH:D001943 Breast Neoplasms bisphenol A 2.0217123778
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0220435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0916835633
MESH:D002278 Carcinoma in Situ bisphenol A 5.5317123778
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5418850075 18670907 16120746
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4916835633
MESH:D002779 Cholestasis Ethinyl Estradiol 8.6217110522 16105132 11677210 16919318 17333356 17681005 15861022
MESH:D002779 Cholestasis pirinixic acid 8.6219176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2215668235 15340226 12621046 8697196 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3817141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2720055451 10048152 15322242
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5618249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7317107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 4.3220420201
MESH:D056486 Drug-Induced Liver Injury Tetracycline 4.3217522070
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0211462148
MESH:D004487 Edema pirinixic acid 7.7912083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.7911000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.5116714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.6312538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.3710568697 9294722
OMIM:268100 ENHANCED S-CONE SYNDROME marker/mechanism
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2711564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 15.4315345470
MESH:D005234 Fatty Liver pirinixic acid 15.4319236843 20131406
MESH:D005234 Fatty Liver Tetracycline 15.4316917069 19224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.9411858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.4320067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.2110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4911294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.7320558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7111000095
MESH:D006529 Hepatomegaly pirinixic acid 9.9216221962 18467677 19176532 19772884
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.9215340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.668697196 16354765 15340226 18606429 16959395
MESH:D006943 Hyperglycemia pirinixic acid 3.5320558911
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0118670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2916945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7117937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0112878042 12200463
MESH:D007333 Insulin Resistance bisphenol A 8.0416393666
MESH:D007333 Insulin Resistance pirinixic acid 8.0416306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7116580747
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.2215474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.2212878042
MESH:D008113 Liver Neoplasms pirinixic acid 4.6115890375 16377806 20007298
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.6116984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3112151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D009135 Muscular Diseases pirinixic acid 3.9916239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2619151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3112213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2216411023
MESH:D009369 Neoplasms pirinixic acid 2.0917405874
MESH:D009395 Nephritis, Interstitial Tetracycline 5.399884423
MESH:D009421 Nervous System Malformations bisphenol A 11.0916427766 11399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 11.0914600291
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D010049 Ovarian Diseases bisphenol A 5.5311985600
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.0911578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.8612520081
MESH:D010391 Pemphigoid, Bullous Tetracycline 6.0411026799
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0018163543
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 11.3710548101
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 11.3711118676 11222880 11399792 11896295
MESH:D017096 Prion Diseases Tetracycline 5.9510903871
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 4.5820887781
MESH:D011471 Prostatic Neoplasms bisphenol A 3.3516740699
MESH:D011537 Pruritus Ethinyl Estradiol 3.8516919318 15861022
MESH:D011629 Puberty, Precocious bisphenol A 5.3310548101
MESH:D015427 Reperfusion Injury pirinixic acid 2.5319058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2818990726
MESH:D012174 Retinitis Pigmentosa marker/mechanism
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1816192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.5516709447
MESH:D019966 Substance-Related Disorders bisphenol A 4.5216045194 16684133
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.0211994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4815669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.5112697716
MESH:D014591 Uterine Diseases bisphenol A 5.6214652134
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.7414692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.2112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.9114671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.8615886252
Pathway ID Pathway Name
REACT:71 Gene Expression
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA31757
    • No data
    Releated disease ID Related disease Name
    PA445537Retinitis Pigmentosa
    No data
    Drug Bank Top

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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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