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: | EXT2 |
| Gene Name: | EXT2 |
| Protein Full Name: | Exostosin-2 |
| Alias: | Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase;Multiple exostoses protein 2;Putative tumor suppressor protein EXT2 |
| Mass (Da): | 82255 |
| Number AA: | 718 |
| UniProt ID: | Q93063 |
| Locus ID: | 2132 |
| COSMIC ID: | EXT2 |
| Gene location on chromosome: | 11p11-p12 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBIT |
| Number of cancer specimens: | 20324 |
| Percent of cancer specimens with mutations: | 0.59 |
| Mutations observed as inherited: | hereditary multiple exotoses type 2, including osteochondroma (57% substitutions, 19% small deletions, 24% small insertions) |
| 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: | EXT2 is a forms the heterodimer complex with EXT1 to form a glycosyltransferase required for heparan-sulfate synthesis. It has been reported to have tumour suppressing effects. Defects in EXT2 have been associated with hereditary multiple exostoses type 2, a bone disorder that occasionally leads to benign or malignant bone tumors. |