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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
56
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Ovarian dysgenesis 8 Pathogenic rs1567753148 RCV000721932
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
46, XY Disorders of Sex Development 46, XY disorder of sex development BEFREE 29261182
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 29550797
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 12073050, 12168823, 12497580, 14674142, 15517897, 17046193, 18620727
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 12497580, 15900599, 17046193, 19875957, 22583357, 23362007, 29390981
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma CTD_human_DG 17639508
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 25683270, 28889324
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 19064969, 19706809, 20615575, 21862684, 26301798, 29970138, 30864727
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 30373552, 30701026
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 12152165, 12497580, 15900599, 29984337
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Basal Cell Adenocarcinoma CTD_human_DG 17639508
★☆☆☆☆
Found in Text Mining only