GATA2 encodes GATA binding protein 2 (480 aa). Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells. Binds to the consensus sequence 5'-AGATAG-3' Highest expression in Uterus (86.1 TPM) and Prostate (69.7 TPM).

Monocytopenia with susceptibility to infections is associated with mutations in the GATA2 gene on chromosome 3.

The GATA2 protein participates in CEBPA gene:RUNX1:SPI1:GATA2:TAL1:FLI1:MYB, RUNX1, SPI1 (PU.1), GATA2, TAL1 (SCL), FLI1, and MYB bind the CEBPA promoter, and CEBPA gene transcription is enhanced by RUNX1, SPI1 (PU.1), GATA2, TAL1 (SCL), FLI1, MYB, LEF1, and CEBPA pathways.

GATA2 is classified as a druggable target (Clinically Actionable, Transcription Factor, and Transcription Factor Complex categories) with score 0.6.

Genetic testing for GATA2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for monocytopenia with susceptibility to infections has been reported in the published literature.

Phenotype severity distribution: 10 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

4 clinical trials registered, 2 recruiting. Interventions under study include drug therapy, other interventions, procedural interventions, and biologic therapy. Pipeline includes 3 PHASE2. Research is primarily sponsored by academic and government institutions.

85 publications have been identified in PubMed for monocytopenia with susceptibility to infections. Research spans Case Report / Case Series (29%), Basic Science / Preclinical (26%), and Review / Meta-Analysis (20%).

Recent Publications

• Justiz Vaillant AA (2026). [PMID: 29763203](https://pubmed.ncbi.nlm.nih.gov/29763203/). *Unknown Journal*. [Review / Meta-Analysis]

• Wilson H (2026). [PMID: 42130790](https://pubmed.ncbi.nlm.nih.gov/42130790/). *Clin Case Rep*. [Case Report / Case Series]

• Karr M (2026). [PMID: 42037755](https://pubmed.ncbi.nlm.nih.gov/42037755/). *EJHaem*. [Review / Meta-Analysis]

• Chen YF (2026). [PMID: 41808888](https://pubmed.ncbi.nlm.nih.gov/41808888/). *World J Stem Cells*. [Basic Science / Preclinical]

• Hsu AP (2026). [PMID: 41537337](https://pubmed.ncbi.nlm.nih.gov/41537337/). *Haematologica*. [Epidemiology / Natural History]

• Similuk MN (2026). [PMID: 40739694](https://pubmed.ncbi.nlm.nih.gov/40739694/). *Transplantation*. [Review / Meta-Analysis]

• Francés JF (2026). [PMID: 42106287](https://pubmed.ncbi.nlm.nih.gov/42106287/). *Arch Bronconeumol*. [Case Report / Case Series]

• Boukamza F (2026). [PMID: 42246350](https://pubmed.ncbi.nlm.nih.gov/42246350/). *Dermatol Online J*. [Case Report / Case Series]

• Ghosh R (2026). [PMID: 41724404](https://pubmed.ncbi.nlm.nih.gov/41724404/). *J Allergy Clin Immunol*. [Basic Science / Preclinical]

• Sicre de Fontbrune F (2026). [PMID: 39159950](https://pubmed.ncbi.nlm.nih.gov/39159950/). *Br J Haematol*. [Basic Science / Preclinical]