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: | TCF12 |
| Gene Name: | TCF12 |
| Protein Full Name: | Transcription factor 12 |
| Alias: | BHLHb20; DNA-binding protein HTF4; E-box-binding protein; HEB; Helix-loop-helix transcription factor 4; HsT17266; HTF4; Transcription factor 12 (HTF4, helix-loop-helix transcription factors 4); Transcription factor HTF-4 |
| Mass (Da): | 72965 |
| Number AA: | 682 |
| UniProt ID: | Q99081 |
| Locus ID: | 6938 |
| COSMIC ID: | TCF12 |
| Gene location on chromosome: | 15q21 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 20425 |
| Percent of cancer specimens with mutations: | 0.56 |
| Deregulated in translocations: | t(9;15)(q22;q21); TCF12-TEC; N-terminal domain of TCF12 fused to the entire TEC protein; the translocation separates the N-terminal of TCF12 from the bHLH domain as well as from a potential leucine zipper domain; the N-terminal of TCF12 shows no sequence |
| Normal role description: | TCF12 is a basic helix-loop-helix (bHLH) transcription factor belonging to the class A family; acts as a general negative regulator of cell proliferation. TCF12 is implicated in myogenesis, hematopoiesis and neurogenesis. Potentially functions as a tumour suppressor which is supported by the loss of the bHLH domain in the fusion protein thus confering loss of function to wild-type TCF12 |