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: | ZFHX3 |
Gene Name: | ZFHX3 |
Protein Full Name: | Zinc finger homeobox protein 3 |
Alias: | Alpha-fetoprotein enhancer-binding; AT motif-binding factor 1; ATBF1; AT-binding transcription factor 1; ATBT; Zinc finger homeobox 3 |
Mass (Da): | 404419 |
Number AA: | 3703 |
UniProt ID: | Q15911 |
Locus ID: | 463 |
COSMIC ID: | ZFHX3 |
Gene location on chromosome: | 16q22.3-q23.1 |
Cancer protein type: | TSP |
Effect of cancer mutation on protein: | LOSS |
Effect of active protein on cancer: | INHIBITS |
Number of cancer specimens: | 19809 |
Percent of cancer specimens with mutations: | 2.92 |
General distribution of mutations: | Multi-site |
Location of most mutations: | Broad distribution of mutation sites with many several mutations, but no complex, insertion or deletion mutants. |
Normal role description: | Transcriptional repressor with zinc finger homeobox 3. It inhibits the enhancer element of the AFP gene by binding to its AT-rich core sequence. Regulator of myoblasts differentiation through the binding to the AT-rich sequence of MYF6 promoter and promoter repression. Down-regulates the MUC5AC promoter in gastric cancer. ZFHX3 also negatively regulates c-Myb, and transactivates the cell cycle inhibitor cyclin-dependent kinase inhibitor 1A (p21CIP1). Mutations in this gene have been found in mouth, pharengeal, skin, stomach, and ovarian tumors. |