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: | Grb2 |
| Gene Name: | GRB2 |
| Protein Full Name: | Growth factor receptor-bound protein 2 |
| Alias: | ASH; GRB2 adapter protein; NCKAP2; SH2/SH3 adapter GRB2 |
| Mass (Da): | 25206 |
| Number AA: | 217 |
| UniProt ID: | P62993 |
| Locus ID: | 2885 |
| COSMIC ID: | GRB2 |
| Gene location on chromosome: | 17q25.1; 17q24-q25 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20338 |
| Percent of cancer specimens with mutations: | 0.27 |
| Normal role description: | GRB2 is an adaptor protein containing SH2 and SH3 domains to facilitate protein-protein interactions with growth factor receptors. GRB2 is a signal transducer of receptor signalling and will recruit additional adapter and effector molecules to facilitate signalling. GRB2 will facilitate activation of MAPK to activate gene expression through STAT and Elk1 transcription factors which will promote cell growth and proliferation. GRB2 is also required for receptor endocytosis and degradation through ubiquitinylation to negatively regulate receptor signalling. Due to GRB2's role in cell growth, dysfunction of GRB2 signalling is implicated in cancer development. In particular signalling by GRB2 is required for the progression of leukemias. However, mutations of GRB2 itself are rare and may promote cancer indirectly by facilitating signalling of other aberrantly expressed proteins such as SOS-1 or Bcr-Abl fusion proteins. |