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: | EPHA7 |
| Gene Name: | EPHA7 |
| Protein Full Name: | Ephrin type-A receptor 7 |
| Alias: | Developmental kinase 1; EBK; EC 2.7.10.1; EHK3; EHK-3; Embryonic brain kinase; EPA7; EPH homology kinase 3; EPH homology kinase-3; Eph homology kinase-3; EPH receptor A7; EPH-like kinase 11; HEK11; Kinase EphA7; MDK1; MDK-1; Receptor protein- tyrosine kinase HEK11; Tyrosine-protein kinase receptor EHK-3 |
| Mass (Da): | 112097 |
| Number AA: | 998 |
| UniProt ID: | Q15375 |
| Locus ID: | 2045 |
| COSMIC ID: | EPHA7 |
| Gene location on chromosome: | 6q16.1 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 21052 |
| Percent of cancer specimens with mutations: | 1.81 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with many point mutations, but only 1 deletion, no insertions and no complex mutations across the entire protein. |
| Gene undergoes hypermethylation: | Down-regulated in colorectal cancer by hypermethylation |
| Normal role description: | EPHA7 is a receptor-tyrosine kinase that is activated upon binding ephrins. It has been implicated in mediating developmental events in mainly the brain, and to be significantly down-regulated in colorectal cancers by hypermethylation. |
| Commentary on involvement of protein in cancer: | * 1 pharyngeal & 1 laryngeal sample were also mutated out of the 14 total UAT samples (silent mutations). 3/477 (1%) CNS- and 8/359 (2%) lung cancer samples were also mutated. |