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: | SEPT6 |
| Gene Name: | SEPT6 |
| Protein Full Name: | Septin-6 |
| Alias: | KIAA0128; SEP2; SEPT2; Septin 6 |
| Mass (Da): | 49717 |
| Number AA: | 434 |
| UniProt ID: | Q14141 |
| Locus ID: | 23157 |
| COSMIC ID: | SEPT6 |
| Gene location on chromosome: | Xq24 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 20459 |
| Percent of cancer specimens with mutations: | 0.42 |
| Deregulated in translocations: | Acute Myeloid Leukemia, fusion partner is MLL. |
| Normal role description: | SEPT6 is a GTPase protein with functions in regulating actin skeleton dynamics. SEPT6 functions in heterooligomeric complexes and will associate with cytoskeletal proteins such as actin and microtubules. SEPT6 has a role in cytokinesis during M-phase of cell division. The SEPT6 gene locus can participate in a translocation event leading a fusion protein with MLL which has been implicated in the development of acute myeloid leukemia. |