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: | MAML2 |
| Gene Name: | MAML2 |
| Protein Full Name: | Mastermind-like protein 2 |
| Alias: | KIAA1819; MAM2; Mam-2; MAM3; MAM-3; Mastermind-like 2; Mastermind-like 2 (Drosophila) |
| Mass (Da): | 124812 |
| Number AA: | 1153 |
| UniProt ID: | Q8IZL2 |
| Locus ID: | 84441 |
| COSMIC ID: | MAML2 |
| Gene location on chromosome: | 11q21 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 20548 |
| Percent of cancer specimens with mutations: | 0.93 |
| Deregulated in translocations: | Mucoepidermoid carcinoma, Warthin's tumour, Clear cell hidradenomas. Fusion partner is CRTC1. Acute Leukemias and MDS. Fusion partner is MLL. Other known fusion partner is CRTC3. |
| Normal role description: | MAML2 is a transcriptional co-activator of NOTCH receptors to activate transcription of NOTCH target genes HES1 and HES5. MAML2 will binds NOTCH receptors through ankyrin repeat domains. MAML2 has a role in embryonic development and cellular differentiation. A translocation event of the MAML2 locus with various fusion partners has been implicated in the development of cancers. The CRTC1-MAML2 fusion protein has been implicated in the most common form of salivary gland tumour, mucoepidermoid carcinoma. |