转录因子GATA2参与多种与人类疾病相关的过程，包括造血系统疾病、癌症和传染病。GATA2是六种GATA家族转录因子之一，充当开创性转录因子的作用，促进异染色质的打开，并进一步使其他转录因子结合到以前无法进入的基因组区域，诱导基因表达。尽管GATA2在造血和淋巴脉络生成中至关重要，但它也在其他组织中表达，如肺、前列腺、胃肠道、中枢神经系统、胎盘、胎儿肝脏和胎儿心脏。GATA2的基因或转录异常会导致或使患者易患多种疾病，包括造血系统肿瘤急性髓性白血病和急性淋巴细胞性白血病、原发性免疫缺陷综合征MonoMAC以及肺癌、前列腺癌、子宫癌、肾癌、乳腺癌、胃肠道癌症和卵巢癌症。最近的数据还发现GATA2的表达和突变与SARS-CoV-2和卡氏肺孢子虫肺炎等传染病的反应以及动脉粥样硬化等炎症性疾病有关。在本文中，我们回顾了GATA2在这些不同疾病的病因和进展中的作用。© 2023，作者（包括独家许可）授权给Springer-Verlag GmbH Germany（德国施普林格自然出版集团的一部分）。

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.© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.