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: | GNAS |
| Gene Name: | GNAS |
| Protein Full Name: | Neuroendocrine secretory protein 55 |
| Mass (Da): | 28029 |
| Number AA: | 245 |
| UniProt ID: | P63092 |
| Locus ID: | 2778 |
| COSMIC ID: | GNAS |
| Gene location on chromosome: | 20q13.3 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 28961 |
| Percent of cancer specimens with mutations: | 3.82 |
| General distribution of mutations: | Narrow |
| Location of most mutations: | One main site at AA 201 and a secondary site ay AA 227 |
| Commonly recorded point mutations: | R201C (529); R201H (369); |
| Normal role description: | G protein - membrane associated. |
| Commentary on involvement of protein in cancer: | R201C in MAS and somatotrophinoma. Defects in GNAS are the cause of McCune-Albright syndrome (MAS) [MIM:174800]. MAS is characterized by polyostotic fibrous dysplasia, cafe-au-lait lesions, and a variety of endocrine disorders, including precocious puberty, hyperthyroidism, hypercortisolism, growth hormone excess, and hyperprolactinemia. The mutations producing MAS lead to constitutive activation of GS alpha. R201 is located in the GTP binding site. |