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: | SEZ6L |
| Gene Name: | SEZ6L |
| Protein Full Name: | Seizure 6-like protein |
| Mass (Da): | 111782 |
| Number AA: | 1024 |
| UniProt ID: | Q9BYH1 |
| Locus ID: | 23544 |
| COSMIC ID: | SEZ6L |
| Gene location on chromosome: | 22q12.1 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 19628 |
| Percent of cancer specimens with mutations: | 1.45 |
| Normal role description: | Allelic losses on 22q, where SEZL6 is located, have been frequently observed in small cell lung carcinomas and advanced non-small cell lung carcinomas, indicating the presence of tumour suppressor gene(s) on that chromosome arm, and it is possible that genetic and/or epigenetic SEZ6L alterations are involved in the development/progression of certain lung cancers according to some sources. SEZ6L may also contribute to specialized endoplasmic reticulum functions in neurons. |
| Commentary on involvement of protein in cancer: | 1/44 CNS samples was also mutated (Sanger COSMIC) |