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: | CHIC2 |
| Gene Name: | CHIC2 |
| Mass (Da): | 19254 |
| Number AA: | 165 |
| UniProt ID: | Q9UKJ5 |
| Locus ID: | 26511 |
| COSMIC ID: | CHIC2 |
| Gene location on chromosome: | 4q11-q12 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20237 |
| Percent of cancer specimens with mutations: | 0.1 |
| Deregulated in translocations: | t(4;12)(q11;p13); BTL/ETV6 fusion gene; N term CHIC2 with the first 110 amino acids (exons 1 to 3) fused to the441 C term amino acids (exons 2 to 8) of ETV6 |
| Normal role description: | Fusion gene implicated in acute myeloid leukemia. There are at least dozen fusion proteins with EtV6 which have been described in hematologic malignancies. This highlights ETV6 as an important protein in hematologic cell signalling. Thus CHIC2 oncogenesis is mediated in large part through downstream affects of ETV6 fusion |