Gene Gene information from NCBI Gene database.
Entrez ID 2099
Gene name Estrogen receptor 1
Gene symbol ESR1
Synonyms (NCBI Gene)
ERESRESRAESTRREraNR3A1
Chromosome 6
Chromosome location 6q25.1-q25.2
Summary 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.
11
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.
1120
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 factors information provided by TRRUST V2 database.
32
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
127
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
133430 3467 ENSG00000091831
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
112
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
Estrogen receptor mutant, temperature-sensitive Pathogenic rs121913043 RCV000018058
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Estrogen resistance syndrome Pathogenic; Likely pathogenic rs104893956, rs1131692059, rs397509428 RCV000018060
RCV000495838
RCV000054445
★★★★☆
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
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTERIOSCLEROSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE Disgenet
★★☆☆☆
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
Abdominal Migraine Abdominal Migraine CTD_human_DG 15133719
★☆☆☆☆
Found in Text Mining only
Acanthosis Nigricans Acanthosis Nigricans HPO_DG
★☆☆☆☆
Found in Text Mining only
Acne Acne HPO_DG
★☆☆☆☆
Found in Text Mining only
Acoustic Neuroma Acoustic Neuroma BEFREE 9143583
★☆☆☆☆
Found in Text Mining only
Acute Cerebrovascular Accidents Stroke BEFREE 23763623
★☆☆☆☆
Found in Text Mining only
Acute Confusional Migraine Confusional Migraine CTD_human_DG 15133719
★☆☆☆☆
Found in Text Mining only
Acute Confusional Senile Dementia Senile Dementia CTD_human_DG 17192785
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 22168360
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 7522544
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 10353741
★☆☆☆☆
Found in Text Mining only