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: | DNMT3A |
| Gene Name: | DNMT3A |
| Protein Full Name: | DNA (Cytosine-5-)-methyltransferase 3 alpha |
| Mass (Da): | 16866 |
| Number AA: | 166 |
| UniProt ID: | Q9Y6K1 |
| Locus ID: | 1788 |
| COSMIC ID: | DNMT3A |
| Gene location on chromosome: | 2p23 |
| Cancer protein type: | TSP? |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 33727 |
| Percent of cancer specimens with mutations: | 6.15 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with point mutations, insertions and deletions over entire protein length. |
| Commonly recorded point mutations: | R882H (623), R282C (283) |
| Normal role description: | DNMT3A encodes for a DNA methyltransferase, involved in denovo methylation. It is essential for the establishment of DNA methylation patterns during development. Inactivated by histone H1. Involved in imprinting and X-chromosome inactivation. Actively represses transcription through HDAC recruitment. |