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: | Smad4 |
| Gene Name: | SMAD4 |
| Protein Full Name: | Mothers against decapentaplegic homolog 4 |
| Alias: | Deletion target in pancreatic carcinoma 4; Deletion target in pancreatic carcinoma 4 homolog; Deletion target in pancreatic carcinoma 4 homologue; DPC4; Dpc4; MADH4; Madh4; Mothers against decapentaplegic 4; Mothers against decapentaplegic homolog 4; Mothers against DPP 4; SMA4; Sma4; SMAD family member 4 |
| Mass (Da): | 60439 |
| Number AA: | 552 |
| UniProt ID: | Q13485; Q9BYG6 |
| Locus ID: | 4089 |
| COSMIC ID: | SMAD4 |
| Gene location on chromosome: | 18q21.1 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBIT |
| Number of cancer specimens: | 26501 |
| Percent of cancer specimens with mutations: | 3.48 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with point mutations, insertions and deletions, and some complex mutations over entire protein length. |
| Commonly recorded point mutations: | R361H (52); R361C (28); D351H (13) |
| Mutations observed as inherited: | juvenile polyposis; hereditary hemorrhagic telangiectasia syndrome |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | NA |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | SMAD4 is part of the TGF-beta signalling pathway and plays a coactivatory role in the transcription of tumour suppressor genes such as CDK inhibitors. Mutations or deletions have been shown to result in pancreatic cancer, juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia syndrome, a genetic disease of improper angiogenesis. It can also act to repress Myc transcription. |