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: | FAM123B |
| Gene Name: | FAM123B |
| Protein Full Name: | Protein FAM123B |
| Alias: | AMER1; Family with sequence similarity 123B; FLJ39827; RP11-403E24.2; Wilms tumor gene on the X chromosome protein; Wilms Tumor on the X; WTX |
| Mass (Da): | 124030 |
| Number AA: | 1135 |
| UniProt ID: | Q5JTC6 |
| Locus ID: | 139285 |
| COSMIC ID: | FAM123B |
| Gene location on chromosome: | Xq11.1 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 19538 |
| Percent of cancer specimens with mutations: | 1.43 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with many point mutations, complex mutations, insertions and deletions across entire protein. |
| Deregulated in translocations: | t(X;18)(q11;p11) with WTX deletion; Xq11.1 deletions |
| Normal role description: | WTX, also known as FAM123B, plays a positive regulatory role on WT1 activity. It is a negative regulator of Wnt and beta-catenin signalling by promoting beta-catenin ubiquination and degradation, thus possibly playing a role in tumour suppression. It is involved in kidney development. Loss of function implicated in oncogenesis via upregulation of Wnt and CTNNB1 pathways. It is known to be inactivated in many cases of Wilms tumor. Loss of function implicated in oncogenesis via upregulation of Wnt and CTNNB1 pathways. |