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: | DNMT3B |
Gene Name: | DNMT3B |
Protein Full Name: | DNA (cytosine-5)-methyltransferase 3B |
Alias: | 2.1.1.37; DNA cytosine-5 methyltransferase 3 beta; DNA methyltransferase HsaIIIB; DNA MTase HsaIIIB; DNM3B; EC 2.1.1.37; ICF |
Mass (Da): | 95751 |
Number AA: | 853 |
UniProt ID: | Q2PJS8 |
Locus ID: | 1789 |
COSMIC ID: | DNMT3B |
Gene location on chromosome: | 20q11.2 |
Cancer protein type: | UNCLEAR |
Effect of cancer mutation on protein: | UNCLEAR |
Effect of active protein on cancer: | UNCLEAR |
Number of cancer specimens: | 20150 |
Percent of cancer specimens with mutations: | 0.95 |
Normal role description: | DNAMT3 is a DNA methyltransferase that plays an epigentic role by methylating CpG island in the genome. |
Commentary on involvement of protein in cancer: | Required for genome wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. May preferentially methylates nucleosomal DNA within the nucleosome core region. May function as transcriptional co-repressor by associating with CBX4 and independently of DNA methylation. Seems to be involved in gene silencing By similarity. In association with DNMT1 and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9. Isoforms 4 and 5 are probably not functional due to the deletion of two conserved methyltransferase motifs. |