| ESR1 |
| LOCUS ID | 2099 | |||||||||||||
| GENE_SYMBOL | ESR1 | |||||||||||||
| GENE NAME | estrogen receptor 1 | |||||||||||||
| SYNONYMNS | ER, ESR, Era, ESRA, ESTRR, NR3A1 | |||||||||||||
| CHROMOSOME | 6 | |||||||||||||
| HOMOLOGENE ID | 47906 |
| microRNAs | NA | NA |
| GENE SUMMARY |
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| 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 i |
| OBSERVATIONS |
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| Complication | Evidence | PMID |
| Nephropathy | 1. a novel region of the ESR1 gene that may contain important functional polymorphisms in relation to susceptibility to T2DM and/or diabetic nephropathy. | 18305958 |
| Retinopathy | 1. Electronic validation and diagnostic value analysis of the identified DEGs [cytokine inducible SH2 containing protein (CISH), SR?related CTD associated factor 11 (SCAF11), estrogen receptor 1 (ESR1), Rho GTPase activating protein 25 (ARHGAP25), major histocompatibility complex, class II, DR ?4 (HLA?DRB4) and interleukin 23 subunit ? (IL23A)] was performed in the GEO dataset. | 30942443 |