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: | ERBB2 |
| Gene Name: | ERBB2 |
| Protein Full Name: | Receptor tyrosine-protein kinase erbB-2 |
| Alias: | CD340; C-erbB-2; EC 2.7.10.1; Epidermal growth factor receptor-related protein; ErbB2; HER2; HER-2; Kinase ErbB2; MLN 19; MLN19; NEU; Neu; NEU proto-oncogene; NGL; P185erbB2; Receptor protein-tyrosine kinase erbB-2; Receptor protein-tyrosine kinase erbB-2 precursor; Tyrosine kinase-type cell surface receptor HER2; V-erb-b2 erythroblastic leukemia viral oncogene 2, neuro/glioblastoma derived oncogene; V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) |
| Mass (Da): | 137910 |
| Number AA: | 1255 |
| UniProt ID: | P04626; Q9NP09; Q9UK79 |
| Locus ID: | 2064 |
| COSMIC ID: | ERBB2 |
| Gene location on chromosome: | 17q12 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 42337 |
| Percent of cancer specimens with mutations: | 1.42 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of point mutations over most of the protein, but complex mutations and insertions selectively occur at AA 774-780. |
| Commonly recorded point mutations: | A775ins (118); L7555S (30); |
| Found in amplified chromosomal regions in human cancers: | Gastric, ovarian, breast carcinomas (10-30%) |
| Normal role description: | ERBB2 is a receptor-tyrosine kinase of the epidermal growth factor receptor family,that is activated upon binding NRG with ErbB3. NRG acts as an autocrine factor produced in ovarian carcinomas. ERBB2 needs a coreceptor for ligand binding. Activates MAPK and PI3K pathways and is involved in cell proliferation, prolonging and enhancing survival signals, differentiation and apoptosis. Amplification and overexpression of ERBB2 is associated with numerous cancers. The increase of ERBB2 protein in breast tumour can be up to 100-fold. |
| Commentary on involvement of protein in cancer: | V777 is located in the kinase catalytic domain close to subdomain III. |