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: | KDM4C |
Gene Name: | KDM4C |
Protein Full Name: | Lysine-specific demethylase 4C |
Alias: | EC 1.14.11.-; GASC1; GASC-1; Gene amplified in squamous cell carcinoma 1; JHD3C; JHDM3C; Jumonji domain-containing protein 2C |
Mass (Da): | 119982 |
Number AA: | 1056 |
UniProt ID: | Q9H3R0 |
Locus ID: | 23081 |
COSMIC ID: | KDM4C |
Gene location on chromosome: | 9p24.1 |
Cancer protein type: | OP |
Effect of cancer mutation on protein: | GAIN |
Effect of active protein on cancer: | PROMOTES |
Number of cancer specimens: | 19802 |
Percent of cancer specimens with mutations: | 0.83 |
Found in amplified chromosomal regions in human cancers: | Gene amplifications in desmoplastic medulloblastoma, metastatic lung sarcomatoid carcinoma, prostate-, esophageal-, and breast cancer |
Normal role description: | KDM4C is a nuclear protein which functions as a trimethylation-specific demethylase, converting specific trimethylated histone residues to the dimethylated form, but has no activity on mono- and dimethylated residues. Over-expression of the gene has been associated with esophageal squamous cell carcinoma and prostate cancer. Amplification of the gene have been observed in desmoplastic medulloblastoma, metastatic lung sarcomatoid carcinoma, prostate-, esophageal-, and breast cancer. |
Commentary on involvement of protein in cancer: | Only 2 ovarian tumour samples were included in Sanger COSMIS. 1 laryngeal sample was also mutated (silent) |