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: | SH3GL2 |
| Gene Name: | SH3GL2 |
| Protein Full Name: | Endophilin-A1 |
| Alias: | CNSA2; EEN-B1; SH3 domain protein 2A; SH3-containing GRB2-like protein 2; SH3D2A; SH3-domain GRB2-like 2; SH3G2; SH3P4 |
| Mass (Da): | 39962 |
| Number AA: | 352 |
| UniProt ID: | Q99962 |
| Locus ID: | 6456 |
| COSMIC ID: | SH3GL2 |
| Gene location on chromosome: | 9p22.2 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 19627 |
| Percent of cancer specimens with mutations: | 0.52 |
| Found in amplified chromosomal regions in human cancers: | Head and neck-, breast- and gastric cancers |
| Gene undergoes hypermethylation: | Head and neck-, breast- and gastric cancers, pituitary adenomas, neuroblastomas |
| Normal role description: | SH3GL2 is implicated in synaptic vesicle endocytosis, and may function by recruiting other proteins to membranes with high curvature. Promoter hypermethylation, chromosomal deletions, chromosomal gain/amplification, and chromosomal breakpoints are frequently observed in sporadic cancers, but the prognostic significance of down-regulation of SH3GL2 is not yet fully understood. |