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: | GLMN |
| Gene Name: | GLMN |
| Protein Full Name: | Glomulin |
| Alias: | FK506-binding protein-associated protein;FKBP-associated protein |
| Mass (Da): | 68208 |
| Number AA: | 594 |
| UniProt ID: | Q92990 |
| Locus ID: | 11146 |
| COSMIC ID: | GLMN |
| Gene location on chromosome: | 1p22.1 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 19717 |
| Percent of cancer specimens with mutations: | 0.33 |
| Mutations observed as inherited: | Glomuvenous malformations/glomangiomas |
| Normal role description: | Glomulin is essential for normal development of vasculature, and mutations/deletions of the gene have been associated with glomuvenous malformations/glomangiomas. It may function as a ligand of the immunophilins FKBP59 and FKBP12, and as a membrane anchoring protein. |