Gene Gene information from NCBI Gene database.
Entrez ID 2100
Gene name Estrogen receptor 2
Gene symbol ESR2
Synonyms (NCBI Gene)
ER-BETAESR-BETAESRBESTRBErbNR3A2ODG8
Chromosome 14
Chromosome location 14q23.2-q23.3
Summary 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.
1
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.
128
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 assayMicroarrayNext 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 factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
STAT3 Activation 21546410
STAT5B Unknown 11731618
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
55
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601663 3468 ENSG00000140009
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
25
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ovarian dysgenesis 8 Pathogenic rs1567753148 RCV000721932
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs2274705 RCV005922941
ESR2-related disorder Benign; Likely benign rs1256049, rs17225885, rs944050, rs767711085, rs149404315, rs201005626, rs368248753, rs2550414301, rs60101369, rs1256054, rs78851986, rs2228481, rs1541060, rs111918185, rs139838202
View all (2 more)
RCV003980783
RCV003921321
RCV003975917
RCV003968568
RCV003971132
RCV003961244
RCV003929332
RCV003901922
RCV003926099
RCV003940521
RCV003920747
RCV003940645
RCV003932859
RCV003923012
RCV003958320
RCV003923163
RCV003925814
Familial cancer of breast Benign rs111918185 RCV005907580
Lung cancer Benign rs2274705 RCV005922943
Associations from Text MiningDisease 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