Genomic DNA 13,759bp, 6 exons ((two untranslated first exons that utilized differentially and five translated exons).

The distal (IS) exon specifically utilized in hematopoietic and neural cells, while the proximal (IG) exon is utilized ubiquitously, producing 3383-bp and 3484-bp transcripts, respectively. These two variant transcripts encode the same protein. Trancription is oriented from telomere to centromere.

Contains 2 zinc finger domains, ZF1 (aa 294 to 344) and ZF2 (aa 349 to 398).

Strictly regulated and tissue specific. Gene activity depends on several trans regulators and cis-acting regulatory elements scattered in a wide range around the gene. 3.1-kbp upstream of IS exon recapitulates endogenous Gata2 gene expression in yolk sacs and paraaortic splanchnopleura hematopoietic cells in mice. An enhancer in 77-kbp upstream of GATA2 gene and GATA-box-E-box composite element in the fourth intron are important in adult hematopoiesis and implicated in the leukemogenesis in humans (see below). In non-hematopoietic tissues, the element in the fourth intron works as an endothelial specific enhancer, whereas enhancer(s) located between +75- and +113-kbp to the translational initiation site are responsible to the Gata2 expression in caudal periureteric mesenchyme/ urogenital sinus and rostral metanephric mesenchyme in mice, respectively. It has been considered that currently not-identified enhancer(s) for urogenital organs development are located more distal region of Gata2 gene..

Nuclear.

Binds to the consensus sequence 5-(A/T)GATA(A/G)-3. Transcriptional activator which is expressed very early in hematopoiesis and plays a role in development and regulation of every early pluripotent hematopoietic precursor, but also of eosinophils, basophils and mast cells. Early stages of erythroid differentiation depends of GATA2, but during maturation GATA2 expression decreases progressively at the benefit of GATA1. GATA2 suppresses differentiation of bone marrow mesenchyme stem cells to adipocytes and sustains the hematopoietic stem cell environment. GATA2 also plays roles in development of neural system, urogenital organs and vascular system.

Member of the GATA family which contains 6 known members; only GATA1, GATA2 and GATA3 are involved in hematopoiesi

Loss-of-function mutations and dominant-negative mutations have been found as a cause of Familial myelodysplastic syndrome (MDS), DCML deficiency and Emberger syndrome, which are in a group of complex syndromes predisposing to leukemia with overlapping clinical features. Mutation in GATA-box-E-box composite element in the fourth intron, which leads to reduction of GATA2 gene expression, has been found in a pedigree of MonoMAC syndrome family.

Chromosomal rearrangements involving the 77-kbp upstream region of GATA2 gene on 3q21 and MECOM (EVI1) gene on 3q26 are associated with MDS and acute myeloid leukemia (AML). This type of hematopoietic malignancies is referred to as 3q21q26 syndrome. Mutations are found as a cause of acute myeloid transformation of chronic myeloid leukemia (CML).