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: | NTRK3 |
| Gene Name: | NTRK3 |
| Protein Full Name: | NT-3 growth factor receptor |
| Alias: | EC 2.7.10.1; GP145-TrkC; Kinase TrkC; Neurotrophic tyrosine kinase receptor 3; Neurotrophic tyrosine kinase, receptor, type 3; Neurotrophin-3 receptor non-catalytic isoform 1; NT-3 growth factor receptor; NTRK3; TRKC; Trk-C; TrkC tyrosine kinase |
| Mass (Da): | 94428 |
| Number AA: | 839 |
| UniProt ID: | Q16288 |
| Locus ID: | 4916 |
| COSMIC ID: | NTRK3 |
| Gene location on chromosome: | 15q25 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 22530 |
| Percent of cancer specimens with mutations: | 1.63 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with many point mutations, but no deletions, insertions or complex mutations across the entire protein. AA 731 shows a slightly higher rate of point mutations. |
| Commonly recorded point mutations: | R731Q (2) |
| Deregulated in translocations: | The ETV6-NTRK3 gene fusion is the result of a t(12;15)(p13;q25). Cancers include medulloblastoma and breast. |
| Normal role description: | NTRK3 is a receptor-tyrosine kinase that is activated upon binding neurotrophin-3 (NT-3). Downstream targets similar to other RTK systems (MEK/ERK). Mostly involved in neuronal development, differentiation and growth. Chimeric protein causes constituent activation without requiring extracellular ligand; this implies fully activated protein can function as an oncogene. Interestingly, medulloblastomas that lose NTRK3 expression carry worse prognosis - potentially through loss of differentiation mechanisms |
| Commentary on involvement of protein in cancer: | R731 (R745 in Uniprot Q16288) is located in the kinase catalytic domain just after subdomain VIII. |