Published: 25 August 2023 Volume 101 , pages 1191–1208 ( 2023 ) Cite this article The transcription factor GATA2 is involved in human diseases ranging from hematopoietic disorders, to cancer, to infectious diseases. GATA2 is one of six GATA-family transcription factors that act as pioneering transcription factors which facilitate the opening of heterochromatin and the subsequent binding of other transcription factors to induce gene expression from previously inaccessible regions of the genome. Although GATA2 is essential for hematopoiesis and lymphangiogenesis, it is also expressed in other tissues such as the lung, prostate gland, gastrointestinal tract, central nervous system, placenta, fetal liver, and fetal heart. Gene or transcriptional abnormalities of GATA2 causes or predisposes patients to several diseases including the hematological cancers acute myeloid leukemia and acute lymphoblastic leukemia, the primary immunodeficiency MonoMAC syndrome, and to cancers of the lung, prostate, uterus, kidney, breast, gastric tract, and ovaries. Recent data has also linked GATA2 expression and mutations to responses to infectious diseases including SARS-CoV-2 and Pneumocystis carinii pneumonia, and to inflammatory disorders such as atherosclerosis. In this article we review the role of GATA2 in the etiology and progression of these various diseases. This is a preview of subscription content, log in via an institution to check access. Access this article Subscribe and save Starting from 10 chapters or articles per month Access and download chapters and articles from more than 300k books and 2,500 journals Price includes VAT (Hong Kong/P.R.China) Instant access to the full article PDF. Institutional subscriptions Similar content being viewed by others GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report GATA2 Deficiency Syndrome: A Case Series and Literature Review Juvenile idiopathic arthritis associated with a mutation in GATA3 Explore related subjects Bacterial transcription Gene Regulation Gene Transcription Transcription factors Genetic Variants and Complex Trait Analysis Data availability This is a review and therefore contains no new data. All materials used to prepare this manuscript can be found in the reference section. 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J Biol Chem 272(3):1747–1752 Article CAS PubMed Google Scholar Download references This work was funded by a Grant-In-Aid from the Heart and Stroke Foundation of Canada to BH. AA was funded by Ontario Graduate Scholarship and RGE Murray Scholarship from Western University. The funding agencies had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. Author information Authors and Affiliations Department of Microbiology and Immunology; the Western Infection, Immunity and Inflammation Centre, The University of Western Ontario, London, ON, N6A 5C1, Canada Amena Aktar & Bryan Heit Department of Microbiology and Immunology; the Western Infection, Immunity and Inflammation Centre, The University of Western Ontario, London, ON, N6A 5C1, Canada Amena Aktar & Bryan Heit Robarts Research Institute, London, ON, N6A 3K7, Canada Bryan Heit Robarts Research Institute, London, ON, N6A 3K7, Canada Amena Aktar View author publications Search author on: PubMed Google Scholar Search author on: PubMed Google Scholar Bryan Heit View author publications Search author on: PubMed Google Scholar Search author on: PubMed Google Scholar AA authored most of the manuscript. BH contributed to the writing and editing of the manuscript and oversaw its preparation. Both authors read and approved the final manuscript. Corresponding author Correspondence to Bryan Heit . Ethics declarations Ethics and informed consent Not applicable. Conflict of interest The authors declare no conflict of interests. Additional information Publisher's Note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Rights and permissions Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law. Reprints and permissions About this article Cite this article Aktar, A., Heit, B. Role of the pioneer transcription factor GATA2 in health and disease. J Mol Med 101 , 1191–1208 (2023). https://doi.org/10.1007/s00109-023-02359-8 Download citation Received : 09 January 2023 Received : 09 January 2023 Revised : 04 August 2023 Revised : 04 August 2023 Accepted : 14 August 2023 Accepted : 14 August 2023 Published : 25 August 2023 Published : 25 August 2023 Version of record : 25 August 2023 Version of record : 25 August 2023 Issue date : October 2023 Issue date : October 2023 DOI : https://doi.org/10.1007/s00109-023-02359-8 DOI : https://doi.org/10.1007/s00109-023-02359-8 Share this article Anyone you share the following link with will be able to read this content: Sorry, a shareable link is not currently available for this article. Provided by the Springer Nature SharedIt content-sharing initiative Atherosclerosis Hematopoietic disease Bryan Heit View author profile