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Last update 08 May 2025

GATA2

Last update 08 May 2025

Basic Info

Synonyms

Endothelial transcription factor GATA-2, GATA binding protein 2, GATA-binding protein 2

+ [2]

Introduction

Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells. Binds to the consensus sequence 5'-AGATAG-3'.

Drugs associated with GATA2

K-11706

Target

EZH2 x GATA2

Mechanism

EZH2 inhibitors [+1]

Active Org.

Baylor College of Medicine

Originator Org.

Baylor College of Medicine

Active Indication

Prostate Neuroendocrine Carcinoma

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with GATA2

100 Translational Medicine associated with GATA2

0 Patents (Medical) associated with GATA2

2,079

Literatures (Medical) associated with GATA2

31 Dec 2025·Human Vaccines & Immunotherapeutics

Drug survival of omalizumab in atopic asthma: Impact of clinical and genetic variables

Article

Author: Pineda-Lancheros, Laura E ; Morales-García, Concepción ; Caballero-Vázquez, Alberto ; Jiménez-Morales, Alberto ; Sánchez-Martínez, José A ; González-Gutiérrez, María V ; Jiménez-Gálvez, Gonzalo ; Rojo-Tolosa, Susana

It is estimated that 40-50% of severe asthma has an atopic basis, representing a clinical challenge and a significant economic burden for healthcare systems. The most effective treatment has emerged with the use of biologic therapies such as omalizumab; however, the rate of therapy switching due to loss of efficacy is high, which has a negative impact on the healthcare system. The aim was to evaluate the influence of genetic polymorphisms as predictors of omalizumab survival. We conducted a retrospective observational cohort study of 110 patients with uncontrolled severe allergic asthma treated with omalizumab in a tertiary hospital. We analyzed FCER1A (rs2251746, rs2427837), FCER1B (rs1441586, rs573790, rs1054485, rs569108), C3 (rs2230199), FCGR2A (rs1801274), FCGR2B (rs3219018, rs1050501), FCGR3A (rs10127939, rs396991), IL1RL1 (rs1420101, rs17026974, rs1921622) and GATA2 (rs4857855) by real-time PCR using Taqman probes. Drug survival was defined as the time from initiation to discontinuation of omalizumab. Cox regression analysis adjusted for the presence of respiratory disease, GERD, SAHS and years with asthma showed that the SNPs FCER1B rs573790 - CT (p < .001; HR = 3.38; CI95% = 1.66-6.87), FCGR3A rs10127939-AC (p = .018; HR = 3.85; CI95% = 1.25-11.81) and FCGR3A rs396991-CC (p = .020; HR = 2.23; CI95% = 1.14-4.38) were the independent variables associated with worse survival in patients diagnosed with asthma. A trend toward statistical significance was also found between and FCGR3A rs10127939-CC (p = .080; HR = 0.13; CI95% = 0.01-1.28) and longer drug survival. The results of this study demonstrate the potential influence of the polymorphisms studied on omalizumab survival and the clinical benefit that could be achieved by defining predictive biomarkers of drug survival.

01 Dec 2025·Journal of Clinical Immunology

DOCK2 Deficiency and GATA2 Haploinsufficiency Can Underlie Critical Coronavirus Disease 2019 (COVID-19) Pneumonia

Article

Author: Babaei, Sharareh ; Rahimi, Maziyar ; Cobat, Aurélie ; Mohaghegh, Fatemeh ; Vahidnezhad, Fatemeh ; Shahrooei, Mohammad ; Tabatabaiefar, Mohammad Amin ; Béziat, Vivien ; Zhang, Qian ; Zaresharifi, Shirin ; Sherkat, Roya ; Jouanguy, Emmanuelle ; Khorram, Erfan ; Youssefian, Leila ; Casanova, Jean-Laurent ; Biglari, Sajjad ; Tsoi, Lam C ; Mozafari, Nikoo ; Moghaddam, Atefeh Sohanforooshan ; Saeidian, Amir Hossein ; Vahidnezhad, Hassan ; Abtahi-Naeini, Bahareh ; Homayouni, Vida ; Gudjonsson, Johann E ; Rahimi, Hamid ; Hakonarson, Hakon

The life-threatening coronavirus disease 2019 (COVID-19) affects about 1 in 1,000 healthy people under 50 without underlying conditions. Among patients with critical COVID-19 pneumonia, rare germline variants at genes controlling type I IFN immunity have been reported in up to 5% of patients. Causal etiologies in 80-85% of cases are still unknown. We analyzed two families with hypoxemic COVID-19 pneumonia for known single-gene inborn errors of immunity. In Family 1, two siblings with critical COVID-19 were homozygous for a DOCK2 variant, c.3624+5G>A. DOCK2 deficiency is a known T-cell disorder underlying severe viral diseases. The variant resulted in skipping exon 35, which was predicted to produce a frameshift truncated protein (p.L1157Ifs*12). The proband showed markedly decreased blood CD4 T-helper cell counts, impaired T lymphocyte transformation test, and increased serum IgG, IgA, and IgE levels, as documented in other DOCK2-deficient patients. In Family 2, the proband had lethal COVID-19 and HPV-2-associated multiple recalcitrant warts. She was heterozygous for a deletion in GATA2:c.1075_1102del28, p.W360Sfs*18. GATA2 haploinsufficiency is a known cause of severe viral diseases due to a lack of plasmacytoid dendritic cell (pDC) development. The proband had monocytopenia and a lack of circulating pDCs, as reported in other patients with GATA2 haploinsufficiency. Overall, both DOCK2 deficiency and GATA2 haploinsufficiency are associated with critical and often fatal COVID-19 pneumonia.

01 Dec 2025·Journal of Clinical Immunology

Bone Marrow CD8 + Abundance Inversely Correlates with Progressive Marrow Fibrosis and Myelodysplastic Evolution in GATA2 Deficiency: Case Report

Article

Author: Roncareggi, Samuele ; Maglia, Oscar ; Biondi, Andrea ; Chiarini, Marco ; L'Imperio, Vincenzo ; Guerra, Fabiola ; Bonanomi, Sonia ; Sala, Simona ; Fazio, Grazia ; Piazza, Rocco ; Vendemini, Francesca ; Mottadelli, Federica ; Saettini, Francesco

PURPOSEGATA2 deficiency, a rare inborn error of immunity, presents with highly variable phenotypes. Bone marrow (BM) changes such as hypocellularity and myelodysplastic syndrome (MDS) are common, with hematopoietic stem cell transplantation being the only curative option due to the risk of progression to acute myeloid leukemia. Although traditional markers like cytogenetic abnormalities and somatic mutations (e.g., ASXL1) identify the risk of leukemic transformation, efforts to identify novel predictors of disease evolution are needed. CD8+ T cells are known to play a key role in MDS immune surveillance, but their specific involvement in GATA2 deficiency remains poorly defined.METHODSIn this case report, we report on a young adult with GATA2 deficiency who underwent longitudinal monitoring of both peripheral and BM lymphocyte subsets, with a focus on CD8+ T-cell evolution in relation to MDS progression.RESULTSThe patient exhibited typical GATA2-deficient immune-hematological findings, including monocytopenia, B- and NK-cell deficiency, but had no history of severe infections and remained transfusion-independent. While peripheral CD8+ T-cell levels remained stable over time, a notable reduction in BM CD8+ T cells was observed in association with MDS progression.CONCLUSIONProviding a long-term follow-up of one GATA2-deficient patient, we suggest that a decrease in BM CD8+ T cells may serve as an early marker of immune surveillance escape and disease progression. These findings underscore the need for further investigation into the role of BM CD8+ T cells in GATA2 deficiency and MDS evolution, potentially offering new insights for follow-up and therapeutic intervention.

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GATA2

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