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: | CASC3 |
| Gene Name: | CASC3 |
| Protein Full Name: | Protein CASC3 |
| Alias: | Barentsz protein; Btz; Cancer susceptibility candidate 3; Cancer susceptibility candidate gene 3 protein; Metastatic lymph node protein 51; MLN51; Protein barentsz |
| Mass (Da): | 76278 |
| Number AA: | 703 |
| UniProt ID: | O15234 |
| Locus ID: | 22794 |
| COSMIC ID: | CASC3 |
| Gene location on chromosome: | 17q11-17q21.3 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 19625 |
| Percent of cancer specimens with mutations: | 0.47 |
| Mutations observed as inherited: | NA |
| Found in amplified chromosomal regions in human cancers: | Breast cancer |
| Deregulated in translocations: | NA |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | CASC3 is a component of the exon junction complex. It marks the position of the exon-exon junction in the mature mRNA and influences downstream processes such as mRNA splicing, subcellular localization, translation efficiency and degradation. The protein may also play a role in cytoplasmic stress granule assembly and favour cell recovery following stress. Overexpression is found in 12-30% of primary breast carcinomas. |