ESR1
LOCUS ID2099
GENE_SYMBOLESR1
GENE NAMEestrogen receptor 1
SYNONYMNSER, ESR, Era, ESRA, ESTRR, NR3A1
CHROMOSOME6
HOMOLOGENE ID47906
microRNAsNANA
GENE SUMMARY
This gene encodes an estrogen receptor, a ligand-activated transcription factor composed of several domains important for hormone binding, D 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. Altertive splicing results in several transcript variants, which differ in their 5' UTRs and use different promoters. [provided by RefSeq, Jul 2008]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. a novel region of the ESR1 gene that may contain important functional polymorphisms in relation to susceptibility to T2DM and/or diabetic nephropathy.18305958