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: | SOX2 |
Gene Name: | SOX2 |
Protein Full Name: | Transcription factor SOX-2 |
Alias: | SRY (sex determining region Y)-box 2 |
Mass (Da): | 34310 |
Number AA: | 317 |
UniProt ID: | P48431 |
Locus ID: | 6657 |
COSMIC ID: | SOX2 |
Gene location on chromosome: | 3q26.3-q27 |
Cancer protein type: | OP |
Effect of cancer mutation on protein: | GAIN |
Effect of active protein on cancer: | PROMOTES |
Number of cancer specimens: | 19798 |
Percent of cancer specimens with mutations: | 0.25 |
Normal role description: | SOX2, encoded by an intronless gene, is a transcription factor of the SRY-related HMG-box (SOX) family. SOX2 is required for stem-cell maintenance in the central neverous system and maintenance of pluripotency. It also complexes with OCT4 and then regulates the expression of numerous gene involved in embryonic development. SOX2 has been found to be upregulated in some brain, breast, colon, lung, and gastric cancers. |