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: | Gab2 |
| Gene Name: | GAB2 |
| Protein Full Name: | GRB2-associated-binding protein 2 |
| Alias: | GABJ; Grb2-associated binder 2; GRB2-associated binding protein 2; KIAA0571; pp100 |
| Mass (Da): | 74458 |
| Number AA: | 676 |
| UniProt ID: | Q9UQC2 |
| Locus ID: | 9846 |
| COSMIC ID: | GAB2 |
| Gene location on chromosome: | 11q14.1 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20149 |
| Percent of cancer specimens with mutations: | 0.52 |
| Found in amplified chromosomal regions in human cancers: | Breast Cancer. The GAB2 locus is frequently amplified in breast cancers. |
| Normal role description: | GAB2 is an adaptor/scaffolding protein which contains a PH domain, SH2 domain and SH3 domain to facilitate protein-protein interactions. GAB2 specifically interacts with GRB2 adaptor proteins to transduce signals from receptor protein stimulated by extracellular ligands. GAB2 is tyrosine phosphorylated in response to ligand-receptor binding. A major target of GAB2 signalling is phosphatidylinositol 3-kinase (PI3K) and mitogen-activated protein kinase (MAPK) pathways. Abberant GAB2 regulation and overexpression has been observed in breast cancer, skin cancer and myeloid leukemias. GAB2 appears to function in amplifying signals from growth factor receptors receptors leading to increased cell proliferation and differentiation. GAB2 is classified as an oncogene. |
| Commentary on involvement of protein in cancer: | Less than 3% mutations in lung cancer. |