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: | HSPG2 |
Gene Name: | HSPG2 |
Protein Full Name: | Basement membrane-specific heparan sulfate proteog |
Alias: | Heparan sulfate proteoglycan 2; HSPG; Perlecan; Perlecan proteoglycan; PGBM; PLC; PRCAN; SJS1 |
Mass (Da): | 468798 |
Number AA: | 4391 |
UniProt ID: | P98160 |
Locus ID: | 3339 |
COSMIC ID: | HSPG2 |
Gene location on chromosome: | 1p36.12 |
Cancer protein type: | OP/TSP |
Effect of cancer mutation on protein: | UNCLEAR |
Effect of active protein on cancer: | MIXED |
Number of cancer specimens: | 19675 |
Percent of cancer specimens with mutations: | 2.7 |
General distribution of mutations: | Multi-site |
Location of most mutations: | Broad distribution of mutation sites with several point mutations, but no complex, insertion or deletion mutants. |
Normal role description: | The protein encoded for by HSPG2 functions as an integral component of the glomerular basement membrane, where it is responsible for the fixed negative electrostatic membrane charge, which provides a barrier that is both size- and charge-selective. It also serves as an attachment substrate for cells and plays an important role in vascularization, normal heart development, and in the regulation of the vascular response to injury. Endorepellin (1 of the 2 chains HSPG2 is cleaved into - the other one being LG3 ligand) is an anti-angiogenic and anti-tumour peptide that inhibits endothelial cell migration, collagen-induced endothelial tube morphogenesis and angiogenesis in the chorioallantoic membrane. It reduces phosphorylation of RTK's by activating PTPN6. The LG3 peptide also has anti-angiogenic properties. However, HSPG2 as a whole molecule has been found to be a pro-angionetic factor and to be upregulated in a number of cancers. Defects in HSPG2 are also the cause of Schwartz-Jampel syndrome and dyssegmental dysplasia Silverman-Handmaker type. |
Commentary on involvement of protein in cancer: | 1/1 pharyngeal tumour sample was also mutated (mis-sense), and so were 1/44 CNS samples |