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: | EZH2 |
| Gene Name: | EZH2 |
| Protein Full Name: | Histone-lysine N-methyltransferase EZH2 |
| Alias: | enhancer of zeste 2; Enhancer of zeste homolog 2; ENX-1; EZH1; KMT6 |
| Mass (Da): | 85363 |
| Number AA: | 746 |
| UniProt ID: | B2RAQ1; Q15910 |
| Locus ID: | 2146 |
| COSMIC ID: | EZH2 |
| Gene location on chromosome: | 7q35-q36 |
| Number of cancer specimens: | 28220 |
| Percent of cancer specimens with mutations: | 2.81 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with many point mutations, complex mutations, insertions and deletions across entire protein. However, point mutation at A646 occurs at a much higher frequency. |
| Commonly recorded point mutations: | Y646F (121); Y646N (104); |
| Normal role description: | Methyltransferase. Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH2 complex, which methylates 'Lys-9' and 'Lys-27' of histone H3, leading to transcriptional repression of the affected target gene. Able to mono-, di- and trimethylate 'Lys-27' of histone H3 to form H3K27me1, H3K27me2 and H3K27me3, respectively. Compared to EZH2-containing complexes, it is more abundant in embryonic stem cells and plays a major role in forming H3K27me3, which is required for embryonic stem cell identity and proper differentiation. The PRC2/EED-EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems. Genes repressed by the PRC2/EED-EZH2 complex include HOXC8, HOXA9, MYT1, CDKN2A and retinoic acid target genes. |
| Commentary on involvement of protein in cancer: | Catalytic activity = S-adenosyl-L-methionine + L-lysine-[histone] to S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone]. Y646 is located in the SET domain. |