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: | ERBB4 |
Gene Name: | ERBB4 |
Protein Full Name: | Receptor tyrosine-protein kinase erbB-4 |
Alias: | EC 2.7.10.1; HER4; Kinase ErbB4; P180erbB4; P180-erbB4; V-erb-a erythroblastic leukemia viral oncogene 4 |
Mass (Da): | 146808 |
Number AA: | 1308 |
UniProt ID: | Q15303 |
Locus ID: | 2066 |
COSMIC ID: | ERBB4 |
Gene location on chromosome: | 2q34 |
Cancer protein type: | OP/TSP |
Effect of cancer mutation on protein: | MIXED |
Effect of active protein on cancer: | MIXED |
Number of cancer specimens: | 20838 |
Percent of cancer specimens with mutations: | 2.79 |
General distribution of mutations: | Multi-site |
Location of most mutations: | Broad distribution of mutation sites with many point mutations, but no deletions, insertions or complex mutations across the entire protein. |
Found in amplified chromosomal regions in human cancers: | Oral squamous cell carcinomas |
Normal role description: | ERBB4 is an RTK involved in cell growth and differentiation. Ligands are neuregulins and not EGF. Donwregulation has been described in bladder cancer to correlated with oncogensis but upregulation noted in lung cancer. |