Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | ESR2 |
| Gene Name: | ESR2 |
| Protein Full Name: | Estrogen receptor beta |
| Alias: | ER beta; Erb; ESR2; ESTRB; Estrogen receptor 2; NR3A2; Nuclear receptor subfamily 3 group A member 2 |
| Mass (Da): | 59216 |
| Number AA: | 530 |
| UniProt ID: | Q92731 |
| Locus ID: | 2100 |
| COSMIC ID: | ESR2 |
| Gene location on chromosome: | 14q23.2 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | INHIBIT |
| Number of cancer specimens: | 19717 |
| Percent of cancer specimens with mutations: | 0.56 |
| Mutations observed as inherited: | NA |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | NA |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | ESR2 is an estrogen receptor localized to the nucleus and activates genes associated with estrogen response elements upon estrogen binding. However, in addition to its expression in tumors, its expression is also ubiquitous in normal tissue. Thus, it has been suggested that ESR2 may play only a minor role in mediating tumor-related estrogen responses. Several reports state that ESR2 has a protective role against breast cancer development, and that knockout of ESR2 led to increased proliferation and decreased apoptosis, thus suggesting that ESR2 has anti-tumoral effects. |