GATA binding protein 2
GATA binding protein 2 genes mapped on chromosome 3q21 that contains 8 exons which is crucial for hematopoietic differentiation and lymphatic formation for maintaining the proliferation and survival of early hematopoietic cells as well as preferential differentiation to megakaryotic lineages.
GATA binding protein 2 frameshift mutations caused by an early terminations and resulted in a nonfunctional protein deficient of the most C terminal zinc-finger domains that caused significant structural alterations critical for interactions with DNA, other transcription factors and co-factors resulting in more erratic phenotypic consequences.
GATA binding protein 2 mutations is not common in sporadic AML cases and frequently associated with more specific subgroup AML with normal cytogenetics and biallelic CEBPA mutations thereby the somatic mutation of GATA2 is likely a secondary event in the leukemogenesis. A germline mutation is implicated in group of complex syndromes including a rare genetic disorder MonoMAC, Emberger syndrome and familial AML following MDS. It is possibly an important predisposing mutation yet a secondary genetic event is needed for the growth of blatant malignant disease.
Gene name: GATA2
Protein name: Endothelial transcription factor GATA-2