AutismKB 2.0

Annotation Detail for ESRRB


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Basic Information Top
Gene Symbol:ESRRB ( DFNB35,ERR2,ERRb,ESRL2,NR3B2 )
Gene Full Name: estrogen-related receptor beta
Band: 14q24.3
Quick LinksEntrez ID:2103; OMIM: 602167; Uniprot ID:A2VDJ2_HUMAN; ENSEMBL ID: ENSG00000119715; HGNC ID: 3473
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1831Prostate cancer
No data
No data
Desease Name
Deafness, autosomal recessive 35
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of ESRRB mRNAaffects expression 16483693
C004541 biochanin A biochanin A binds to and results in increased activity of ESRRB proteinaffects binding|increases activity 14638870
C004541 biochanin A biochanin A promotes the reaction [ESRRB protein binds to PNRC1 protein]affects binding|increases reaction 14638870
C004742 daidzein daidzein binds to and results in increased activity of ESRRB proteinaffects binding|increases activity 14638870
C004742 daidzein daidzein promotes the reaction [ESRRB protein binds to PNRC1 protein]affects binding|increases reaction 14638870
D004054 Diethylstilbestrol Diethylstilbestrol binds to and results in decreased activity of ESRRB proteinaffects binding|decreases activity 11559547
D004054 Diethylstilbestrol Diethylstilbestrol inhibits the reaction [ESRRB protein results in increased expression of TFF1 mRNA]decreases reaction|increases expression 11559547
D004054 Diethylstilbestrol Diethylstilbestrol binds to and results in decreased activity of ESRRB proteinaffects binding|decreases activity 16515477
C043562 flavone flavone binds to and results in increased activity of ESRRB proteinaffects binding|increases activity 14638870
D019833 Genistein Genistein binds to and results in increased activity of ESRRB proteinaffects binding|increases activity 14638870
D019833 Genistein Genistein promotes the reaction [ESRRB protein binds to PNRC1 protein]affects binding|increases reaction 14638870
D007529 Isoflavones Isoflavones binds to and results in increased activity of ESRRB proteinaffects binding|increases activity 14638870
C501618 N'-((1E)-(4-(diethylamino)phenyl)methylene)-4-hydroxybenzohydrazide N'-((1E)-(4-(diethylamino)phenyl)methylene)-4-hydroxybenzohydrazide binds to and results in increased activity of ESRRB proteinaffects binding|increases activity 15713377
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.9018287403
MESH:D000230 Adenocarcinoma daidzein 5.1211473722
MESH:D000230 Adenocarcinoma Genistein 5.1211473722
MESH:D000505 Alopecia Isoflavones 4.9117569567
MESH:D000686 Amyloidosis Diethylstilbestrol 4.7615469931
MESH:D001943 Breast Neoplasms Diethylstilbestrol 2.3915324884 17129689
MESH:D001943 Breast Neoplasms Genistein 2.3916541309 16873071 17200150
MESH:D006528 Carcinoma, Hepatocellular Diethylstilbestrol 3.3715948411 16924424
MESH:D006528 Carcinoma, Hepatocellular Genistein 3.3716924424
MESH:D002318 Cardiovascular Diseases daidzein 13.4016332659
MESH:D002318 Cardiovascular Diseases Genistein 13.4016332659
MESH:D002318 Cardiovascular Diseases Isoflavones 13.4017689850
MESH:D003110 Colonic Neoplasms Genistein 2.3217182828
MESH:D015179 Colorectal Neoplasms Isoflavones 2.9017116718
MESH:D003456 Cryptorchidism Diethylstilbestrol 4.8416002989 12952375
OMIM:608565 DEAFNESS, AUTOSOMAL RECESSIVE 35 marker/mechanism
MESH:D003924 Diabetes Mellitus, Type 2 daidzein 5.1416647724
MESH:D003924 Diabetes Mellitus, Type 2 Genistein 5.1416647724
MESH:D004714 Endometrial Hyperplasia Diethylstilbestrol 13.0516402032
MESH:D004714 Endometrial Hyperplasia Genistein 13.0516402032
MESH:D016889 Endometrial Neoplasms daidzein 13.5711473722
MESH:D016889 Endometrial Neoplasms Diethylstilbestrol 13.5716804899 15700306
MESH:D016889 Endometrial Neoplasms Genistein 13.5711473722
MESH:D007172 Erectile Dysfunction daidzein 5.3014972507
MESH:D052776 Female Urogenital Diseases Diethylstilbestrol 3.7916534752 16002989 15751030 16513791 16611131
MESH:D005833 Genital Neoplasms, Female Diethylstilbestrol 5.2816452187
MESH:D005909 Glioblastoma biochanin A 8.2416598420
MESH:D005909 Glioblastoma Genistein 8.2416598420
MESH:D019584 Hot Flashes Isoflavones 5.3617290160 14716179
MESH:D006965 Hyperplasia Diethylstilbestrol 4.7412960047 14722030
MESH:D006973 Hypertension daidzein 3.7417169123
MESH:D007021 Hypospadias Diethylstilbestrol 4.8916002989
MESH:D007246 Infertility Diethylstilbestrol 4.6415036965
MESH:D007680 Kidney Neoplasms Diethylstilbestrol 3.6616762066 15003126 14681315
MESH:D007859 Learning Disorders Diethylstilbestrol 4.3717184923
MESH:D007938 Leukemia Genistein 3.1318980019 17468513
MESH:D008106 Liver Cirrhosis, Experimental Genistein 2.0617823541
MESH:D008113 Liver Neoplasms Diethylstilbestrol 2.7116712894 15890375
MESH:D008181 Lupus Nephritis Diethylstilbestrol 5.4915166399
MESH:D008223 Lymphoma Diethylstilbestrol 3.6415700306
MESH:D052801 Male Urogenital Diseases Diethylstilbestrol 5.8916002989
MESH:D008325 Mammary Neoplasms, Experimental Genistein 3.0812929590 14578162
MESH:D009203 Myocardial Infarction Genistein 2.9417141266
MESH:D015428 Myocardial Reperfusion Injury Genistein 3.8417141266
MESH:D009369 Neoplasms Diethylstilbestrol 2.8715313581
MESH:D009421 Nervous System Malformations Diethylstilbestrol 10.9011399458
MESH:D009421 Nervous System Malformations Genistein 10.9016427766
MESH:D010024 Osteoporosis Genistein 8.0519401787
MESH:D010024 Osteoporosis Isoflavones 8.0516562857
MESH:D015663 Osteoporosis, Postmenopausal Genistein 4.3516169203
MESH:D010051 Ovarian Neoplasms Genistein 2.6619005980
MESH:D010900 Pituitary Diseases Diethylstilbestrol 5.5514722030
MESH:D010911 Pituitary Neoplasms Diethylstilbestrol 4.9815687265 16977796
MESH:D011297 Prenatal Exposure Delayed Effects Diethylstilbestrol 4.4517184923
MESH:D011471 Prostatic Neoplasms biochanin A 2.2012111696
MESH:D011471 Prostatic Neoplasms Diethylstilbestrol 2.2017136230 15846301 15046698
MESH:D011471 Prostatic Neoplasms Genistein 2.2016925846 15378649 15256057
MESH:D011471 Prostatic Neoplasms Isoflavones 2.2016365062 17374662 17219775 17571952
MESH:D013088 Spermatocele Diethylstilbestrol 5.0916002989 16709447
MESH:D001749 Urinary Bladder Neoplasms Diethylstilbestrol 2.8517306315 16452187 16712894
MESH:D002583 Uterine Cervical Neoplasms Diethylstilbestrol 4.2616175088
MESH:D014591 Uterine Diseases Diethylstilbestrol 5.5514652134
MESH:D014594 Uterine Neoplasms Diethylstilbestrol 4.3515809267 16690809
MESH:D014625 Vaginal Neoplasms Diethylstilbestrol 4.7416002989 16513791
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA27889
    • No data
    Releated disease ID Related disease Name
    PA145069464Deafness,nonsyndromic
    PA145069467Hearing Loss, nonsyndromic
    No data
    Drug Bank Top

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    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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