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: | CBFB |
Gene Name: | CBFB |
Protein Full Name: | Core-binding factor subunit beta |
Alias: | Polyomavirus enhancer-binding protein 2 beta subunit;SL3-3 enhancer factor 1 subunit beta;SL3/AKV core-binding factor beta subunit |
Mass (Da): | 21508 |
Number AA: | 182 |
UniProt ID: | Q13951 |
Locus ID: | 865 |
COSMIC ID: | CBFB |
Gene location on chromosome: | 16q22 |
Cancer protein type: | OP |
Effect of cancer mutation on protein: | GAIN |
Effect of active protein on cancer: | MIXED |
Number of cancer specimens: | 19535 |
Percent of cancer specimens with mutations: | 0.17 |
Deregulated in translocations: | MYH11 |
Normal role description: | CBFB is a subunit in heterodimer CBF complex. It is involved in binding DNA with CBFA. Its role is to increase binding affinity of CBFa to DNA. The complex regulates hematopoietic genes expression such as GM-CSF, TCRA-D, TCRB and more. Its expression is critical for fetal liver hematopoiesis. |