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: | CNTN4 |
| Gene Name: | CNTN4 |
| Protein Full Name: | Contactin-4 |
| Alias: | Brain-derived immunoglobulin superfamily protein 2 |
| Mass (Da): | 113454 |
| Number AA: | 1026 |
| UniProt ID: | Q8IWV2 |
| Locus ID: | 152330 |
| COSMIC ID: | CNTN4 |
| Gene location on chromosome: | 3p26-p25 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 19876 |
| Percent of cancer specimens with mutations: | 1.15 |
| Normal role description: | CNTN4 belongs to the contactin family of immunoglobulins. It is a GPI-anchored axon-associated cell adhesion molecule involved in the formation of neuronal networks and plasticity by promoting neurite outgrowth and synaptogenesis during brain development. Deletion; chromosome 3 copy number variation (CNV); or t(3;10)(p26;q26) translocation of the gene may play a role in 3p deletion syndrome and in autism spectrum disorders. |
| Commentary on involvement of protein in cancer: | Only 2 ovarian samples were included in Sanger COSMIC. 1/44 and 1/188 CNS and lung tumour samples were also mutated. |