- Gene affected:
- GATA2 - GATA-binding factor 2 (originally characterised by ability to bind genetic sequence "GATA"
- Clinical significance
- GATA2 has importance in inherited early onset bone marrow failure syndromes including MDS, and is also associated with specific immunodeficiency states.
Function of gene
GATA2 is involved in development and regulation of early pluripotent hematopoietic precursors, eosinophils, basophils and mast cells. It suppresses differentiation of bone marrow mesenchymal stem cells to adipocytes. GATA2 maintains the HSC pool.
NGS panel gene coverage
Full gene sequence
Associated genetic features: GATA2 mutation is often accompanied by ASXL1 mutation.
- GeneWiki link: