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: | MIB2 |
| Gene Name: | MIB2 |
| Protein Full Name: | E3 ubiquitin-protein ligase MIB2 |
| Alias: | Mind bomb homologue 2 |
| Mass (Da): | 109939 |
| Number AA: | 1013 |
| UniProt ID: | Q96AX9 |
| Locus ID: | 142678 |
| COSMIC ID: | MIB2 |
| Gene location on chromosome: | 1p36.33 |
| Cancer protein type: | OP/TSP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | MIXED |
| Number of cancer specimens: | 19626 |
| Percent of cancer specimens with mutations: | 0.74 |
| Gene undergoes hypermethylation: | Malignant melanoma, vertical growth phase. Promoter hypermethylation. |
| Normal role description: | MIB2 is an E3 ubiquitin ligase which was found to ubiquitinate transmembrane proteins including Notch ligands and NMDA receptor subunits to facilitate their internalization. MIB2 may have a role as a tumour suppressor protein in malignant melanoma as its downregulationg through hypermethylation was observed in invasaive malignant melanoma. MIB2 may act as an oncogene in multiple myelomas where overexpression of MIB2 and Notch ligand substrate, JAG1/2, were observed. MIB2's role in cancer as an oncogene or tumour suppressor protein appears to be tissue specific. |