Species Human Entrez 2624 | Human Mouse Ensembl ENSG00000179348 | |
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Aliases GATA2, DCML, IMD21, MONOMAC, NFE1B, GATA binding protein 2 External IDs MGI: 95662 HomoloGene: 32030 GeneCards: GATA2 | ||
GATA2 is a human gene which makes a protein called GATA binding protein 2 - a transcription factor.
Contents
Function
The GATA family of transcription factors, which contain zinc fingers in their DNA binding domain, have emerged as candidate regulators of gene expression in hematopoietic cells. GATA1 is essential for normal primitive and definitive erythropoiesis and is expressed at high levels in erythroid cells, mast cells, and megakaryocytes. GATA2 is expressed in hematopoietic progenitors, including early erythroid cells, mast cells, and megakaryocytes, and also in nonhematopoietic embryonic stem cells. In chicken erythroid progenitors, forced expression of GATA2 promotes proliferation at the expense of differentiation. GATA2 also plays an essential role in the negative regulation of type 2 deiodinase gene (DIO2). GATA3 expression is restricted to T-lymphocyte cells and some nonhematopoietic cell types, including embryonic stem cells.
Interactions
GATA2 has been shown to interact with:
Genetic disorders
Multiple mutations on GATA2 gene have been recently implicated as the cause of primary immunodeficiency in patients with MonoMAC Syndrome, and cases of dendritic cell, monocyte, B NK lymphoid deficiency and leukemia. Mutations in this gene have also been associated with familial myelodysplastic syndrome/acute myeloid leukemia (MDS/AML) and lymphedema, deafness and myelodysplasia (Emberger syndrome).
Lung cancer
GATA2 has recently been implicated in non-small-cell lung cancer - specifically those tumours that are driven by a faulty Ras protein. Targeting processes that occur downstream of GATA2 signalling with clinically approved drugs had a significant effect in mouse models of the disease.