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: | GATA2 |
| Gene Name: | GATA2 |
| Protein Full Name: | Endothelial transcription factor GATA-2 |
| Alias: | GATA binding protein 2; NFE1B |
| Mass (Da): | 50500 |
| Number AA: | 480 |
| UniProt ID: | P23769 |
| Locus ID: | 2624 |
| COSMIC ID: | GATA2 |
| Gene location on chromosome: | 3q21.3 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 23404 |
| Percent of cancer specimens with mutations: | 0.83 |
| Normal role description: | GATA2 plays an important role in regulating transcription of genes involved in the early development and proliferation of hematopoietic- and endocrine cells. Defects in the gene cause dendritic cell monocyte lymphocyte B and natural killer lymphocyte deficiency (DCML), an immunodeficiency disease characterized by significantly decreased monocytes, B-cells, NK cells, and dendritic cells, with no effect on the number of T cells. Cancer-associated mutations of GATA2 lead to a gain of function. |