Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2099
Gene name Gene Name - the full gene name approved by the HGNC.
Estrogen receptor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ESR1
Synonyms (NCBI Gene) Gene synonyms aliases
ER, ESR, ESRA, ESTRR, Era, NR3A1
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q25.1-q25.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an estrogen receptor and ligand-activated transcription factor. The canonical protein contains an N-terminal ligand-independent transactivation domain, a central DNA binding domain, a hinge domain, and a C-terminal ligand-dependent trans
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs104893956 C>T Pathogenic Intron variant, non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant, 5 prime UTR variant
rs121913043 TG>GC Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs397509428 G>T Pathogenic Missense variant, coding sequence variant, intron variant
rs796065354 A>G Risk-factor Non coding transcript variant, missense variant, coding sequence variant
rs1057519714 T>C Pathogenic Missense variant, non coding transcript variant, coding sequence variant, intron variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT002474 hsa-miR-22-3p Western blot 18347104
MIRT000700 hsa-miR-206 qRT-PCR 18593897
MIRT000703 hsa-miR-18a-5p Western blot 19706389
MIRT004308 hsa-miR-29b-3p Western blot 19706389
MIRT004309 hsa-miR-19b-3p Western blot 19706389
Transcription factors
Transcription factor Regulation Reference
ARNT Unknown 17991765
BARD1 Activation 20060929
BARX2 Unknown 16636675
BRCA1 Activation 20060929
DNMT1 Unknown 21655924;23242655
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 IMP 20388878
GO:0000785 Component Chromatin IBA
GO:0000785 Component Chromatin IDA 15831516, 20388878, 21131358
GO:0000785 Component Chromatin ISA
GO:0000791 Component Euchromatin IDA 17505058
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
133430 3467 ENSG00000091831
Protein
UniProt ID P03372
Protein name Estrogen receptor (ER) (ER-alpha) (Estradiol receptor) (Nuclear receptor subfamily 3 group A member 1)
Protein function Nuclear hormone receptor. The steroid hormones and their receptors are involved in the regulation of eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Ligand-dependent nuclear transactivation inv
PDB 1A52 , 1ERE , 1ERR , 1G50 , 1GWQ , 1GWR , 1HCP , 1HCQ , 1L2I , 1PCG , 1QKT , 1QKU , 1R5K , 1SJ0 , 1UOM , 1X7E , 1X7R , 1XP1 , 1XP6 , 1XP9 , 1XPC , 1XQC , 1YIM , 1YIN , 1ZKY , 2AYR , 2B1V , 2B1Z , 2B23 , 2BJ4 , 2FAI , 2G44 , 2G5O , 2I0J , 2IOG , 2IOK , 2JF9 , 2JFA , 2LLO , 2LLQ , 2OCF , 2OUZ , 2P15 , 2POG , 2Q6J , 2Q70 , 2QA6 , 2QA8 , 2QAB , 2QE4 , 2QGT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02159 Oest_recep 42 181 Oestrogen receptor Family
PF00105 zf-C4 183 252 Zinc finger, C4 type (two domains) Domain
PF00104 Hormone_recep 332 531 Ligand-binding domain of nuclear hormone receptor Domain
PF12743 ESR1_C 552 595 Oestrogen-type nuclear receptor final C-terminal Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed (PubMed:10970861). Not expressed in the pituitary gland (PubMed:10970861). {ECO:0000269|PubMed:10970861}.; TISSUE SPECIFICITY: [Isoform 3]: Widely expressed, however not expressed in the pituitary gland. {ECO:0000269|P
Sequence
Sequence length 595
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
Thyroid hormone signaling pathway
Endocrine and other factor-regulated calcium reabsorption
Pathways in cancer
Proteoglycans in cancer
Chemical carcinogenesis - receptor activation
Breast cancer
  Nuclear signaling by ERBB4
PIP3 activates AKT signaling
Constitutive Signaling by Aberrant PI3K in Cancer
Nuclear Receptor transcription pathway
SUMOylation of intracellular receptors
Ovarian tumor domain proteases
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
RUNX1 regulates estrogen receptor mediated transcription
ESR-mediated signaling
RUNX1 regulates transcription of genes involved in WNT signaling
Regulation of RUNX2 expression and activity
Extra-nuclear estrogen signaling
Estrogen-dependent gene expression
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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
Estrogen Resistance estrogen resistance syndrome rs104893956, rs397509428, rs1131692059 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
Anxiety Disorder Anxiety N/A N/A GWAS
Breast cancer Breast Cancer in BRCA1 mutation carriers, Breast cancer, Breast cancer (estrogen-receptor negative) N/A N/A GWAS
Breast Cancer Breast cancer (male), BRCA1/2-negative high-risk breast cancer N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency Associate 21281480
Abortion Habitual Associate 16753154, 17895504, 19200973, 38029769
Abortion Spontaneous Associate 16753154, 19200973, 31786857
Achalasia Addisonianism Alacrimia syndrome Associate 22363779
Acute On Chronic Liver Failure Associate 29082740
Acute Phase Reaction Associate 27960568
Adenocarcinoma Associate 10433957, 19706809, 19935673, 20173733, 23412348, 23706170, 25113249, 25692143, 26406593, 28937296, 29851704, 29949537, 9708807
Adenocarcinoma Inhibit 15882182, 25357113
Adenocarcinoma Stimulate 27003997
Adenocarcinoma Mucinous Associate 15960065, 17649817, 20056644, 21699710