Associated Genetic Biomarkers
Associated Diseases

Overview

Location [1]
14q23.2-q23.3
Protein [2]
Estrogen receptor beta
Synonyms [1]
ESR-BETA, ESRB, ER-BETA, NR3A2, Erb, ESTRB

ESR2 is altered in 1.30% of all cancers with conventional glioblastoma multiforme, glioblastoma, melanoma, skin squamous cell carcinoma, and adenocarcinoma of unknown primary having the greatest prevalence of alterations [3].

ESR2 GENIE Cases - Top Diseases

The most common alterations in ESR2 are ESR2 Mutation (1.18%), ESR2 V370I (0.18%), ESR2 A252T (0.09%), ESR2 A252V (0.07%), and ESR2 A275T (0.07%) [3].

ESR2 GENIE Cases - Top Alterations

Significance of ESR2 in Diseases

Breast Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.