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: | LTBP3 |
| Gene Name: | pp6425 |
| Protein Full Name: | Putative uncharacterized protein pp6425 |
| Mass (Da): | 28251 |
| Number AA: | 263 |
| UniProt ID: | Q9NS15 |
| Locus ID: | 4054 |
| COSMIC ID: | pp6425 |
| Gene location on chromosome: | 11q13.1 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 19625 |
| Percent of cancer specimens with mutations: | 0.69 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with some point mutations and 1 deletion, but no complex mutations or insertions. |
| Normal role description: | LTBP3 may play a role in subcellular localization, assembly, secretion and targeting of TGF-β by forming a complex together with it. It may also play a role in regulating the extracellular matrix structure. Defects in the gene have been implicated in tooth agenesis selective type 6 (STHAG6), a form of selective tooth agenesis characterized by the congenital absence of one or more teeth. |
| Commentary on involvement of protein in cancer: | *1/1 laryngeal sample (inframe deletion); 1 glioma- and 1 medulloblastoma sample (silent) were also mutated. |