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: | BBS9 |
| Gene Name: | BBS9 |
| Protein Full Name: | Protein PTHB1 |
| Alias: | Bardet-Biedl syndrome 9 protein;Parathyroid hormone-responsive B1 gene protein |
| Mass (Da): | 99280 |
| Number AA: | 887 |
| UniProt ID: | Q3SYG4 |
| Locus ID: | 27241 |
| COSMIC ID: | BBS9 |
| Gene location on chromosome: | 7p14.3 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 19837 |
| Percent of cancer specimens with mutations: | 1 |
| Mutations observed as inherited: | NA |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | PTHB1-OBSCN fusion t(1;7)(q42;p15) |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | PTHB1 is a potential transmembrane protein downregulated by parathyroid hormone in osteoblasts, thus thought to be involved in parathyroid hormone actions in the bone. However, exact function of the gene is uncertain. Fusion of the gene with OBSCN via a t(1;7)(q42;p15) translocation has been associated with Wilm's tumour. |