Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2100
Gene name Gene Name - the full gene name approved by the HGNC.
Estrogen receptor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ESR2
Synonyms (NCBI Gene) Gene synonyms aliases
ER-BETA, ESR-BETA, ESRB, ESTRB, Erb, NR3A2, ODG8
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q23.2-q23.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the family of estrogen receptors and superfamily of nuclear receptor transcription factors. The gene product contains an N-terminal DNA binding domain and C-terminal ligand binding domain and is localized to the nucleus, cyto
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1567753148 T>C Pathogenic Missense variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004563 hsa-miR-92a-3p GFP reporter assay 20484043
MIRT017943 hsa-miR-335-5p Microarray 18185580
MIRT054508 hsa-miR-30a-5p Luciferase reporter assay, Microarray, Next Generation Sequencing (NGS), Western blot 24525454
MIRT683407 hsa-miR-106a-5p HITS-CLIP 23313552
MIRT683406 hsa-miR-106b-5p HITS-CLIP 23313552
Transcription factors
Transcription factor Regulation Reference
STAT3 Activation 21546410
STAT5B Unknown 11731618
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 15345745
GO:0000785 Component Chromatin IBA
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 15345745
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601663 3468 ENSG00000140009
Protein
UniProt ID Q92731
Protein name Estrogen receptor beta (ER-beta) (Nuclear receptor subfamily 3 group A member 2)
Protein function Nuclear hormone receptor. Binds estrogens with an affinity similar to that of ESR1/ER-alpha, and activates expression of reporter genes containing estrogen response elements (ERE) in an estrogen-dependent manner (PubMed:20074560). {ECO:0000269|P
PDB 1L2J , 1NDE , 1QKM , 1U3Q , 1U3R , 1U3S , 1U9E , 1X76 , 1X78 , 1X7B , 1X7J , 1YY4 , 1YYE , 1ZAF , 2FSZ , 2GIU , 2I0G , 2JJ3 , 2NV7 , 2QTU , 2YJD , 2YLY , 2Z4B , 3OLL , 3OLS , 3OMO , 3OMP , 3OMQ , 4J24 , 4J26 , 4ZI1 , 5TOA , 7XVY , 7XVZ , 7XWP , 7XWQ , 7XWR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12497 ERbeta_N 12 125 Estrogen receptor beta Family
PF00105 zf-C4 147 216 Zinc finger, C4 type (two domains) Domain
PF00104 Hormone_recep 283 482 Ligand-binding domain of nuclear hormone receptor Domain
Tissue specificity TISSUE SPECIFICITY: [Isoform 1]: Expressed in testis and ovary, and at a lower level in heart, brain, placenta, liver, skeletal muscle, spleen, thymus, prostate, colon, bone marrow, mammary gland and uterus. Also found in uterine bone, breast, and ovarian
Sequence
Sequence length 530
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Endocrine resistance
Hormone signaling
Estrogen signaling pathway
Prolactin signaling pathway
GnRH secretion
Pathways in cancer
Chemical carcinogenesis - receptor activation
Breast cancer
  PIP3 activates AKT signaling
Constitutive Signaling by Aberrant PI3K in Cancer
Nuclear Receptor transcription pathway
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
ESR-mediated signaling
Extra-nuclear estrogen signaling
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Ovarian Dysgenesis ovarian dysgenesis 8 rs1567753148 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Medullary thyroid carcinoma familial medullary thyroid carcinoma N/A N/A GenCC
Prostate cancer Prostate cancer N/A N/A GWAS
Psoriasis Psoriasis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 15894829
Abortion Habitual Associate 17895504
Acidosis Stimulate 36499700
Adenocarcinoma Associate 15517897, 19935673, 21733187, 25692143, 27003997, 29984337
Adenocarcinoma Inhibit 15882182
Adenocarcinoma of Lung Associate 19556604, 19875972, 21546410, 21862684, 22669742, 26301798, 34257530
Adenoma Inhibit 34898546
Adenoma Pleomorphic Associate 30390196
Adenomatous Polyposis Coli Associate 27003997
Adenomatous Polyposis Coli Inhibit 28681123, 29132333