GATA2 Gene

GATA2 (GATA Binding Protein 2) is a protein coding gene located on chromosome 3q21.3. The name GATA refers to the consensus nucleotide sequence that binds the zinc finger transcription factors in the promoter regions of the target genes.

The GATA2 gene encodes a member of the GATA family of zinc finger transcription factors. This protein plays an essential role in regulating the transcription of genes involved in the development and proliferation of hematopoietic and endocrine cell lineages. Alternative splicing gives rise to multiple transcript variants. The transcription factor GATA2 is involved in stem cell maintenance and plays a key role in hematopoietic development.

GATA2 mutations are associated with a number of inherited and acquired immune disorders:

Myelodysplastic syndromes (MDS; OMIM #614286),

Acute myeloid leukemia

Immunodeficiency 21 (MonoMAC; OMIM #614172)

Emberger syndrome (OMIM #614038) an autosomal dominant primary lymphedema associated with a predisposition to acute myeloid leukemia (Ostergaard P et al 2011).

NSCLC: In addition to its role in hematopoiesis, maintenance of GATA2 expression has been identified as a requirement for KRAS-driven non-small cell lung cancer. Preclinical models have shown that targeting GATA2-mediated signaling pathways is of therapeutic benefit in the context of KRAS-driven NSCLC.

Prostate cancer: Increased GATA2 expression in metastatic prostate cancer tissue correlated with poor patient prognosis (Chiang YT et al. 2014). Moreover, silencing of the GATA2 gene in human prostate cancer cells (LNCaP) resulted in a marked reduction in cell migration, tissue invasion, resolution of focal adhesion, and a dramatic change in the cell transcriptome, suggesting that GATA2 plays a critical role in prostate cancer metastasis. Thus, GATA2 may represent a prostate cancer metastasis-promoting gene and a potential target for metastatic prostate cancer therapy (Chiang YT et al. 2014).

An important paralog of this gene is GATA.

1. Brown AL et al (2020) Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA). Blood 136:24-35.
2. Chiang YT et al (2014) GATA2 as a potential metastasis-driving gene in prostate cancer. Oncotarget 30;5: 451-61.
3. Hamadou WS et al. (2017) GATA2 gene analysis in several forms of hematological malignancies including familial aggregations. Ann Hematol 96:1635-1639.
4. Ostergaard P et al (2011) Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nat Genet ;43:929-931.