Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene Symbol ESR1
Synonyms ER | Era | ESR | ESRA | ESTRR | NR3A1
Gene Description ESR1, estrogen receptor alpha, modulates response to estrogen and is used as a marker to predict response to endocrine therapy in breast cancer patients (PMID: 23542176, PMID: 26183887). ESR1 fusions are recurrent in breast cancer, and mutations in ESR1 have been associated with decreased response to endocrine therapy (PMID: 27372070, PMID: 26183887) in breast cancer (PMID: 31795152).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
2099 6 6q25.1-q25.2 NM_000125 Both: Oncogene and Tumor suppressor (PMID: 30606230)
Additional content available in CKB BOOST