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: | MYD88 |
Gene Name: | MYD88 |
Protein Full Name: | Myeloid differentiation primary response protein M |
Alias: | myeloid differentiation primary response gene 88 |
Mass (Da): | 33233 |
Number AA: | 296 |
UniProt ID: | Q99836 |
Locus ID: | 4615 |
COSMIC ID: | MYD88 |
Gene location on chromosome: | 3p22.2 |
Cancer protein type: | OP |
Effect of cancer mutation on protein: | GAIN |
Effect of active protein on cancer: | PROMOTES |
Number of cancer specimens: | 26353 |
Percent of cancer specimens with mutations: | 5.8 |
General distribution of mutations: | Narrow |
Location of most mutations: | Most point mutations are found in a single cluster (AA 265) and a minor cluster (AA 217-222), and no complex, insertion or deletion mutants are observed. |
Commonly recorded point mutations: | L265P (1425); S219C (15) |
Normal role description: | MYD88 is an adapter protein involved in signal transduction of Toll-like receptors (TLR) and IL1 receptors which functions in innate immune responses. MYD88 functions to activate NF-kB to induce proinflammatory responses and cytokine signalling. A gain of function mutations in MYD88 was implicated in the development of activated B cell-like (ABC) diffuse large B-cell lymphoma (DLBCLs). This mutation facilitated the spontaneous heterodimerization of Interleukin-1 receptor-associated kinases (IRAK) to activate NF-kB, independent of an extracellular stimulus. MYD88 appears to function predominantly as a oncogene in the development of cancer. |
Commentary on involvement of protein in cancer: | Less than 3% mutation in breast cancer. In Uniprot, the 265 site is normally listed as P. |