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: | H2AFX |
| Gene Name: | H2AFX |
| Protein Full Name: | Histone H2A.x |
| Alias: | H2A histone family, member X; H2A.X; H2a/x; HIST5-2AX; Histone H2A.X |
| Mass (Da): | 15145 |
| Number AA: | 143 |
| UniProt ID: | P16104 |
| Locus ID: | 3014 |
| COSMIC ID: | H2AFX |
| Gene location on chromosome: | 11q23.3 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 19718 |
| Percent of cancer specimens with mutations: | 0.1 |
| Found in amplified chromosomal regions in human cancers: | Breast cancer (6/65) |
| Normal role description: | H2AFX encodes a variant member of the histone H2A family hich replaces conventional H2A in a subset of nucleosomes, and generates two transcripts through the use of a conserved stem-loop termination motif, and the polyA addition motif. It is required for checkpoint-mediated arrest of cell cycle progression in response to low doses of ionizing radiation and for efficient repair of DNA double strand breaks, specifically when modified by C-terminal phosphorylation. A partial deletion of the region encompassing H2AFX has been identified in a significant proportion of head and neck squamous cell carcinomas. |