DKFZp686N23123
ER
ESR
ESRA
Era
NR3A1

Hairy/enhancer of split-related proteins, such as HEY1, are basic helix-loop-helix (bHLH) transcription factors implicated in cell fate decision and boundary formation. HEY genes are direct transcriptional targets of the Notch signaling pathways in Drosophila and vertebrates. 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 splicing results in several transcript variants, which differ in their 5' UTRs and use different promoters.