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Gene : ESR1 Homo sapiens

Name  ? estrogen receptor 1 Cytological Location  6q25.1-q25.2
Brief Description  estrogen receptor 1
Description  This gene encodes an estrogen receptor, a ligand-activated transcription factor composed of several domains important for hormone binding, DNA binding, and activation of transcription. The protein localizes to the nucleus where it may form a homodimer or a heterodimer with estrogen receptor 2. Estrogen and its receptors are essential for sexual development and reproductive function, but also play a role in other tissues such as bone. Estrogen receptors are also involved in pathological processes including breast cancer, endometrial cancer, and osteoporosis. Alternative promoter usage and alternative splicing result in dozens of transcript variants, but the full-length nature of many of these variants has not been determined. [provided by RefSeq, Mar 2014]
  • synonyms:
  • NR3A1,
  • ER,
  • Era,
  • E2 receptor alpha,
  • Era,
  • NR3A1,
  • ESTRR,
  • NM_000125,
  • ESR,
  • uc003qom.5,
  • oestrogen receptor alpha,
  • OTTHUMG00000016103,
  • HGNC:3467,
  • X03635,
  • ER-alpha,
  • ESRA,
  • ESR,
  • nuclear receptor subfamily 3 group A member 1,
  • estrogen receptor alpha,
  • ESR1
  • identifiers:
  • 2099,
  • ENSG00000091831,
  • ESR1

Genome feature

Region: gene ? Length: 475472  
Location: 6:151654148-152129619 Cyto location: 6q25.1-q25.2

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4 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



477 SN Ps

5 Cross References

20 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results