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→Gene Overview
==Gene Overview==
==Gene Overview==
Guanine-adenine-thymine-adenine 2 (GATA2) is one of six GATA binding-factors that regulate gene expression by binding to the DNA motif GATA motifs in the human genome and other transcription factors via two zinc finger domains (ZF1 and ZF2) [1]. During embryogenesis, GATA2 plays an important role in the endothelial to hematopoietic transition that produces the first adult hematopoietic stem cells (HSCs) [2]. In adult hematopoiesis, it is an important transcriptional regulator of hematopoiesis required for HSCs survival and self-renewal [3,4,5]. GATA2 interacts with a complex network of transcription factors that determine early lineage commitment, including SPI1 (PU.1), FLI1, TAL1 (SCL), LMO2 and RUNX1 [3,4,5]. During hematopoietic differentiation, GATA2 is presumed to play a key role in downstream fate decisions together with CEBPA, GATA1 and SPI1, and is essential for monocytic, granulocytic, and lymphoid differentiation (figure 1) [1]. Antagonism between pairs of transcription factors is a key feature of fate decisions, an example being GATA2 and SPI1 (PU.1) in influencing the spectrum of early commitment [1].
Three GATA2 transcripts have been described [1]. Two transcripts (NM_001145661.1 and NM_032638.4) encode the same isoform 1 (480 residues) [1]. A third transcript (NM_001145662.1) encodes a shorter isoform 2 which is truncated by 14 residues at the second zinc finger, as a result of alternative splicing of the last exon [1]. Expression of the distal first exon (IS) is restricted to hematopoiesis and is involved in specification of definitive HSCs during embryogenesis [1].
GATA2 mutated disorders include MonoMac syndrome (Monocytopenia and Mycobacterium avium complex infections), congenital neutropenia, congenital lymphedema (Emberger’s syndrome), DCML (dendritic cell, monocyte, and lymphocyte deficiency), familial MDS/AML (myelodysplastic syndrome/acute myeloid leukemia), sensorineural defects, viral warts, and a spectrum of aggressive infections seen across all age groups [2].
==Common Alteration Types==
==Common Alteration Types==