Gene Symbol | ESR1 |
Entrez Gene ID | 2099 |
Full Name | estrogen receptor 1 |
Synonyms | ER,ESR,ESRA,ESTRR,Era,NR3A1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Estrogen resistance, 615363 (3); {HDL response to hormone replacement, augmented} (3); {Migraine, susceptibility to}, 157300 (3); {Atherosclerosis, susceptibility to} (3); {Myocardial infarction, susceptibility to}, 608446 (3); {Breast cancer}, 114480 (1) |