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: | KDM6A |
| Gene Name: | KDM6A |
| Protein Full Name: | Lysine-specific demethylase 6A |
| Alias: | Histone demethylase UTX; Lysine (K)-specific demethylase 6A; Ubiquitously transcribed TPR protein ON the X chromosome; Ubiquitously transcribed TPR protein on the X chromosome; Ubiquitously transcribed X chromosome tetratricopeptide repeat protein |
| Mass (Da): | 154177 |
| Number AA: | 1401 |
| UniProt ID: | O15550 |
| Locus ID: | 7403 |
| COSMIC ID: | KDM6A |
| Gene location on chromosome: | Xp11.2 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 21545 |
| Percent of cancer specimens with mutations: | 1.94 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with many point mutations and deletions, 3 insertions, but no complex mutation across the entire protein. |
| Normal role description: | KDM6A specifically demethylates tri- and dimethylated Lys27 of H3 histones. Implicated in posterior development via HOX gene regulation. |