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: | COL4A3 |
| Gene Name: | COL4A3 |
| Protein Full Name: | Collagen alpha-3(IV) chain |
| Alias: | CO4A3; collagen alpha-3(IV) chain precursor; collagen, type IV, alpha 3; Goodpasture antigen; GP; tumstatin |
| Mass (Da): | 161813 |
| Number AA: | 1670 |
| UniProt ID: | Q01955 |
| Locus ID: | 1285 |
| COSMIC ID: | COL4A3 |
| Gene location on chromosome: | 2q36-q37 |
| Cancer protein type: | TSP? |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 19628 |
| Percent of cancer specimens with mutations: | 1.48 |
| Normal role description: | COL4A3 is a major structural component of glomerular basement membranes, forming a meshwork together with other structural components. A cleavage fragment corresponding to the COL43A NC1 domain (Tumstatin), possesses both anti-angiogenic and anti-tumour cell activities, which may be regulated through RGD-independent ITGB3-mediated mechanisms. Autoantibodies against the this domain are found in Goodpasture syndrome, an autoimmune lung- and kidney disease. Defects of the protein are implicated in Alport syndrome autosomal- recessive (APSAR) and dominant (APSAD) , diseases characterized by mainly renal abnormalities and failure; and Benign familial hematuria (BFH), characterized by persistent haematuria. |