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: | TBX22 |
| Gene Name: | TBX22 |
| Protein Full Name: | T-box transcription factor TBX22 |
| Mass (Da): | 57910 |
| Number AA: | 520 |
| UniProt ID: | Q9Y458 |
| Locus ID: | 50945 |
| COSMIC ID: | TBX22 |
| Gene location on chromosome: | Xq21.1 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 20181 |
| Percent of cancer specimens with mutations: | 0.9 |
| Normal role description: | TBX22 is a transcription factor involved in the regulation of developmental processes and is crucial in palatogenesis. Mutations in the gene have been associated with the inherited X-linked disorder, cleft palate with ankyloglossia, but the gene has no known role in tumorigenesis. |
| Commentary on involvement of protein in cancer: | 1 laryngeal sample (out of 5 total UAT samples) (mis-sense); 1/223 breast- and 1/59 ovarian tumour samples were also mutated |