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: | CBFA2T3 |
| Gene Name: | CBFA2T3 |
| Protein Full Name: | Protein CBFA2T3 |
| Alias: | Core-binding factor, runt domain, alpha 2; Core-binding factor, runt domain, alpha 2, translocated to 3; Core-binding factor, runt domain, alpha subunit 2; ETO2; MTG16; MTG-16; MTG8-related 2; MTGR2; Myeloid translocation gene on chromosome 16 protein; Translocated to, 3; Translocated to, 3 (MTG-16); Zinc finger MYND domain-containing protein 4; ZMYND4 |
| Mass (Da): | 71192 |
| Number AA: | 653 |
| UniProt ID: | O75081 |
| Locus ID: | 863 |
| COSMIC ID: | CBFA2T3 |
| Gene location on chromosome: | 16q24.3 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 20421 |
| Percent of cancer specimens with mutations: | 0.63 |
| Deregulated in translocations: | t(16;21)(q24;q22) in therapy related acute myeloid leukemia (t-AML) --> CBFA2T3/ RUNX1 |
| Gene undergoes hypermethylation: | Yes in breast cancer |
| Normal role description: | CBFA2T3 has been considered to function as a transcriptional repressor via interaction with corepressor complexes. The CBFA2T3A isoform oligomerizes and drags MTG8 and MTGR1 to the nucleus, oligomerizes with RUNX1-MTG16 fusion proteins in the nucleoplasm, interacts with nuclear HDACs 1 and 3, and when overexpressed accumulates at the periphery of nucleoli in characteristic rings. The presence of a zinc-finger motif common to developmental proteins suggests that CBFA2T3 might function in regulating differentiation and morphogenesis. Loss of heterozygosity (either via mutation or promoter hypermethylation) has been clearly implicated in breast cancer as well as other cancer systems. |