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: | GHR |
| Gene Name: | GHR |
| Protein Full Name: | Growth hormone receptor |
| Alias: | GHR; Somatotropin receptor |
| Mass (Da): | 71500 |
| Number AA: | 638 |
| UniProt ID: | P10912 |
| Locus ID: | 2690 |
| COSMIC ID: | GHR |
| Gene location on chromosome: | 5p13.1 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 20237 |
| Percent of cancer specimens with mutations: | 0.79 |
| Normal role description: | Receptor tyrosine-kinase that recognizes the pituitary growth hormone (GH). Intracellularly couples to the JAK/STAT pathway. Non-functional mutations lead to hereditary short stature. Mutations that leads to constitutive activation and unregulated cellular proliferation (ie oncogenesis) have not been described. |