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: | CD248 |
| Gene Name: | CD248 |
| Protein Full Name: | Endosialin |
| Alias: | Tumor endothelial marker 1 |
| Mass (Da): | 80859 |
| Number AA: | 757 |
| UniProt ID: | Q9HCU0 |
| Locus ID: | 57124 |
| COSMIC ID: | CD248 |
| Gene location on chromosome: | 11q13 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 19808 |
| Percent of cancer specimens with mutations: | 0.64 |
| Mutations observed as inherited: | NA |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | NA |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | CD248 is a type I transmembrane protein that may play a role in tumour angiogenesis, though its exact functions are unknown. Although originally described as a tumour endothelial cell marker, this is controversial and the current consensus is that it is likely localized to pericytes and stromal fibroblasts. It is highly expressed during embryonic development, but expression is minimal in healthy adult tissue. In addition to expression during corpus luteum formation and wound healing, it becomes highly upregulated in metastatic lesions. A L6F missense mutation has been found in a colorectal cancer sample. Knockout of the protein did not have any observable effects on embryonic development, but significantly decreased tumour growth and metastasis. Overexpression of CD248 in CHO cells displayed increased adhesion to fibronectin, migration through Matrigel and MMP9 activity. It may interact with Mac-2 binding protein and decrease adhesion between tumour cells as a result. |