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: | COL1A2 |
| Gene Name: | COL1A2 |
| Protein Full Name: | Collagen alpha-2(I) chain |
| Alias: | Alpha 2 type i collagen; Co1a2; Col1a2; Collagen, type i, alpha 2; Oi4 |
| Mass (Da): | 129288 |
| Number AA: | 1366 |
| UniProt ID: | P08123 |
| Locus ID: | 1278 |
| COSMIC ID: | COL1A2 |
| Gene location on chromosome: | 7q22.1 |
| Cancer protein type: | OP/TSP |
| Effect of active protein on cancer: | MIXED |
| Number of cancer specimens: | 19751 |
| Percent of cancer specimens with mutations: | 2.16 |
| Mutations observed as inherited: | mutations well described in connective tissue disorders osteogenesis imperfecta and Ehlers-Danlos |
| Deregulated in translocations: | t(7;8)(p22;q13) COL1A2-PLAG1 fusion |
| Gene undergoes hypermethylation: | Aberrant methylation of COL1A2 was found in about half of primary hepatoma tissues examined |
| Normal role description: | Type I collagen is a member of group I collagen (fibrillar forming collagen). Interaction between tumour cells and surrounding stroma are altered in part via COL1A2 interaction. COL1A2 has also been implicated in tumour angiogenesis and metastatic potential. The tumour suppressor p53, is a modulator of the COL1A2 gene and production of COL1A2 therefore may be partly responsible for the growth suppression that characterizes the "bystander effect" of p53-dependent gene therapy. Overall, COL1A2 functions both as an OG and TSP in different cancer models and oncogensis has been demonstrated with both upregulation and silencing of the gene. |