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: | SHANK2 |
| Gene Name: | SHANK2 |
| Protein Full Name: | SH3 and multiple ankyrin repeat domains protein 2 |
| Alias: | Cortactin-binding protein 1; Cortbp1; Cttnbp1; Proline-rich synapse-associated protein 1; Prosap1; Sh3 and multiple ankyrin repeat domains 2; Shan2; Shank; Shank2; Spank-3 |
| Mass (Da): | 158822 |
| Number AA: | 1470 |
| UniProt ID: | Q9UPX8 |
| Locus ID: | 22941 |
| COSMIC ID: | SHANK2 |
| Gene location on chromosome: | 11q13.2 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 19626 |
| Percent of cancer specimens with mutations: | 1.46 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with several point mutations, but no complex, insertion or deletion mutants. |
| Normal role description: | SHANK2 is protein found primarily at the postsynaptic membrane of neurons and function primarily as molecular scaffolds. SHANK2 was first identified to bind the SH3 domain of cortactin but was later found to interact with GRID2, PLCB3, CFTR and SLC9A3. SHANK2 also appears to play a role in the maintenance of the dendritic spine structure. SHANK2's role in cancer development may be involved in mutations causing disruption of interactions with binding partners. One example is observed in amplification of SHANK2's binding partner cortactin which has been observed in various cancer tumours. Cortactin overexpression results in increased lamellipodia formation which promotes tumour metastasis. SHANK2 may indirectly act as either an oncogene or tumour suppressor depending on the downstream effects of its binding partners. |