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: | CSMD3 |
| Gene Name: | CSMD3 |
| Protein Full Name: | CUB and sushi domain-containing protein 3 |
| Alias: | CUB and sushi multiple domains protein 3 |
| Mass (Da): | 406000 |
| Number AA: | 3707 |
| UniProt ID: | Q7Z407 |
| Locus ID: | 114788 |
| COSMIC ID: | CSMD3 |
| Gene location on chromosome: | 8q23.3 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 20441 |
| Percent of cancer specimens with mutations: | 7.2 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with many point mutations, but only 2 deletions, no insertions and 1 complex mutation across the entire protein. |
| Normal role description: | CSMD3 is a transmembrane protein with CUB and sushi multiple domains that has been implicated in benign adult familial myoclonic epilepsy and autism. Because of its similarity to CSMD1, which is a tumour suppressor, it has been hypothesized that SCMD3 is one too, but not enough information is available to say this for certain. |
| Commentary on involvement of protein in cancer: | Also, 1/50 breast-, 2/469 CNS- and 8/412 kidney tumour samples were mutated |