GATA2

Summary

GATA2 (GATA binding protein 2, HGNC:4171) is a protein-coding gene on chromosome 3q21.3, encoding Endothelial transcription factor GATA-2 (P23769). Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells. In precision oncology, GATA2 EXPRESSION confers sensitivity to Bortezomib + Fasudil in Lung Adenocarcinoma (CIViC Level D). It is haploinsufficient (ClinGen: sufficient evidence).

This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an essential role in regulating transcription of genes involved in the development and proliferation of hematopoietic and endocrine cell lineages. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 2624 — RefSeq curated summary.

At a glance

• Gene–disease (curated): GATA2 deficiency with susceptibility to MDS/AML (Definitive, ClinGen) — +4 more curated relationships
• GWAS associations: 25
• Clinical variants (ClinVar): 1,850 total — 152 pathogenic, 57 likely-pathogenic
• Phenotypes (HPO): 58
• Druggable target: yes
• Precision-oncology evidence (CIViC): 1 curated variant–drug association
• Cancer driver (intOGen): activating (oncogene-like) across 2 cancer types
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• Transcription factor: yes — 124 downstream targets (CollecTRI)
• MANE Select transcript: NM_032638

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4171
Approved symbol	GATA2
Name	GATA binding protein 2
Location	3q21.3
Locus type	gene with protein product
Status	Approved
Aliases	NFE1B
Ensembl gene	ENSG00000179348
Ensembl biotype	protein_coding
OMIM	137295
Entrez	2624

Gene structure

Transcript identifiers

Ensembl transcripts: 30 — 28 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000341105, ENST00000430265, ENST00000487848, ENST00000489987, ENST00000492608, ENST00000498200, ENST00000696466, ENST00000696652, ENST00000696653, ENST00000696654, ENST00000696655, ENST00000696661, ENST00000696672, ENST00000906583, ENST00000906584, ENST00000906585, ENST00000906586, ENST00000906587, ENST00000906588, ENST00000906589, ENST00000906590, ENST00000906591, ENST00000906592, ENST00000906593, ENST00000906594, ENST00000937284, ENST00000962723, ENST00000962724, ENST00000962725, ENST00000962726

RefSeq mRNA: 3 — MANE Select: NM_032638 NM_001145661, NM_001145662, NM_032638

CCDS: CCDS3049, CCDS46903

Canonical transcript exons

ENST00000341105 — 6 exons

Exon	Start	End
ENSE00001258800	128485727	128486368
ENSE00001657978	128483860	128484005
ENSE00001847419	128479427	128481318
ENSE00003967461	128492899	128493201
ENSE00003967462	128486803	128487076
ENSE00003968026	128481819	128481944

Expression profiles

Bgee: expression breadth ubiquitous, 273 present calls, max score 98.20.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 41.5655 / max 4670.8844, expressed in 1259 samples.

FANTOM5 promoters (15 alternative TSS)

Promoter ID	TPM avg	Samples expressed
44448	22.8653	1217
44451	16.8940	347
44450	0.7889	330
44444	0.2297	24
44447	0.1673	34
44442	0.1505	24
44445	0.1383	37
44443	0.1207	21
44449	0.0890	41
44440	0.0504	16

Top tissues by expression

292 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
seminal vesicle	UBERON:0000998	98.20	gold quality
right lung	UBERON:0002167	96.34	gold quality
left uterine tube	UBERON:0001303	95.41	gold quality
renal medulla	UBERON:0000362	95.28	gold quality
prostate gland	UBERON:0002367	94.65	gold quality
body of uterus	UBERON:0009853	94.48	gold quality
urethra	UBERON:0000057	93.22	gold quality
endocervix	UBERON:0000458	93.03	gold quality
upper lobe of left lung	UBERON:0008952	92.71	gold quality
placenta	UBERON:0001987	92.60	gold quality
upper lobe of lung	UBERON:0008948	92.15	gold quality
sperm	CL:0000019	91.79	gold quality
cervix squamous epithelium	UBERON:0006922	90.93	gold quality
male germ cell	CL:0000015	90.90	gold quality
metanephros cortex	UBERON:0010533	90.85	gold quality
myometrium	UBERON:0001296	90.76	gold quality
uterus	UBERON:0000995	90.69	gold quality
apex of heart	UBERON:0002098	90.47	gold quality
ectocervix	UBERON:0012249	90.08	gold quality
decidua	UBERON:0002450	90.06	gold quality
endometrium	UBERON:0001295	89.77	gold quality
uterine cervix	UBERON:0000002	88.86	gold quality
mucosa of urinary bladder	UBERON:0001259	88.70	gold quality
lung	UBERON:0002048	88.35	gold quality
visceral pleura	UBERON:0002401	88.15	gold quality
mucosa of paranasal sinus	UBERON:0005030	88.03	gold quality
cauda epididymis	UBERON:0004360	87.64	gold quality
vagina	UBERON:0000996	87.01	gold quality
tendon of biceps brachii	UBERON:0008188	87.01	gold quality
urinary bladder	UBERON:0001255	86.80	gold quality

Single-cell (SCXA)

Detected in 28 experiment(s), a significant marker in 28.

Experiment	Marker?	Max mean expression
E-CURD-122	yes	2137.87
E-MTAB-8221	yes	1931.01
E-MTAB-9801	yes	1677.03
E-MTAB-6505	yes	1674.68
E-CURD-112	yes	1313.13
E-MTAB-9067	yes	1214.77
E-GEOD-150728	yes	1174.92
E-MTAB-9906	yes	976.11
E-CURD-79	yes	940.47
E-CURD-55	yes	920.11
E-MTAB-6678	yes	911.27
E-MTAB-6701	yes	886.88
E-MTAB-10042	yes	820.04
E-CURD-6	yes	635.62
E-MTAB-10018	yes	630.43

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

124 targets.

Target	Regulation
ACKR1	Unknown
ADAM2
ADCYAP1	Unknown
ADH1A	Activation
ADH1C	Unknown
AMOTL1	Unknown
ANGPT2	Unknown
APEX1	Repression
AQP2	Unknown
AR	Activation
ARRDC4	Unknown
ASAH2
AZGP1
BHLHA15	Unknown
BMP4	Unknown
CACNA1S	Activation
CASP3
CCM2	Repression
CCRL2	Unknown
CD74
CDKN1A	Unknown
CDKN1B	Unknown
CDX2
CEBPA	Unknown
CEBPB	Unknown
CGA
CHST2	Repression
COP1
CPA3	Activation
CSF2	Activation

JASPAR motifs

Motif	Name	Family
MA0036.1	GATA2	C4-GATA-related
MA0036.2	GATA2	C4-GATA-related
MA0036.3	GATA2	C4-GATA-related
MA0036.4	GATA2	C4-GATA-related

JASPAR matrix evidence (PMIDs): PMID:8321207

Upstream regulators (CollecTRI, top): ERF, ERG, ETS1, FLI1, GAS2L1, GATA1, GATA2, GATA3, HDAC3, HES1, HOXA3, HOXB1, IKZF1, MECOM, NANOG, NOTCH1, PHOX2A, POU2F1, PURA, RBPJ, RUNX1, SMAD1, SMAD5, SPI1, SRF, TNF, TP53, ZFPM1

miRNA regulators (miRDB)

76 targeting GATA2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-MIR-4492	99.87	68.25	3611
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-6762-3P	99.66	66.94	1188

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• GATA-2 transcripts was highly expressed in leukemia patients and had no change in remission. (PMID:11877047)
• Interactions of GATA-2 with the promyelocytic leukemia zinc finger (PLZF) protein, its homologue FAZF, and the t(11;17)-generated PLZF-retinoic acid receptor alpha oncoprotein. (PMID:11964310)
• Essential and instructive roles of GATA factors in eosinophil development. (PMID:12045236)
• regulates hematopoiesis (PMID:12073612)
• GATA-1 and GATA-2 gene expression is related to the severity of dysplasia in myelodysplastic syndrome. (PMID:12145700)
• REVIEW: Roles of hematopoietic transcription factors GATA-1 and GATA-2 in the development of red blood cell lineage (PMID:12432220)
• Suppression of GATA-2 transcriptional activity in endothelial cells by the SUMO E3 ligase PIASy. (PMID:12750312)
• GATA-2 exists as an acetylated protein in immature precursor cells; GATA-2 was acetylated in vitro by p300 and GCN5 at multiple acetylation sites, increasing its DNA-binding activity. (PMID:15001660)
• there is functional cross talk between RA and GATA-2-dependent pathways (PMID:15254248)
• Erythropoietin (Epo) gene expression is under the control of hypoxia-inducible factor 1 (HIF-1), and is negatively regulated by GATA2. (PMID:15328158)
• Results show that in addition to its previously recognized function in suppressing PPARgamma transcriptional activity, interaction of GATA-2 and -3 with C/EBP is necessary for their ability to negatively regulate adipogenesis. (PMID:15632071)
• insulin induces GATA2 phosphorylation on serine 401 in a PI-3K/Akt-dependent manner, impairing GATA2 translocation to the nucleus and its DNA binding activity (PMID:15837948)
• GATA-2 and HNF-3beta regulate the human alcohol dehydrogenase 1A (ADH1A) gene. (PMID:16153155)
• Gata2 can operate independently of neuronal differentiation (PMID:16672344)
• identification of 5 single nucleotide polymorphisms significantly associated with early-onset coronary artery disease; observations identify GATA2 as a novel susceptibility gene for coronary artery disease (PMID:16934006)
• a lack of integrin engagement leads to the induction of cellular markers associated with myeloid differentiation (PMID:17095623)
• GATA-2 expression in bone marrow stromal cells from chronic aplastic anemia was significantly lower than controls. Expression levels of GATA genes may influence hematopoiesis in BM microenvironment & relate to the pathogenesis/development of AA. (PMID:17654061)
• GATA-1 and GATA-2 were expressed at higher levels in patients with Monge’s disease than in controls. (PMID:18078130)
• data strongly suggest that GATA-2 mutations may play a role in acute myeloid transformation in a subset of CML patients (PMID:18250304)
• Introducing GATA2 into microvascular endothelial cells resulted in dedifferentiation-like transcriptome reprogramming, with hematopoietic stem cell genes (such as ANGPT1) being up and endothelial genes (such as EPHB2) being down. (PMID:18308945)
• Evi-1 promotes hematopoietic stem/progenitor expansion at the embryonic stage through up-regulation of GATA-2 and repression of TGF-beta signaling. (PMID:18452556)
• Hypoxic regulation of Ang-2 is HIF-dependent and demonstrate that HIF-1alpha binds in human microvascular endothelial cells (HMVEC) to an evolutionary conserved Hypoxia-Responsive Element (HRE) located in the first intron of the Ang-2 gene. (PMID:18720385)
• Gata-2 overexpression in AML was associated with a low percentage of blasts in bone marrow and males. (PMID:19097174)
• GATA-2 activity inhibits cell cycle in vitro & in vivo. It is a molecular entry point into the transcriptional program regulating quiescence in human hematopoietic stem and progenitor cells. (PMID:19168794)
• results suggest that GATA-1 and/or GATA-2 binding to a GATA site of the 3’ enhancer of WT1 played an important role in WT1 gene expression (PMID:19212333)
• GATA-2 L359 V is exclusively associated with CML progression but not other hematological malignancies and P250A is a new single nucleotide polymorphism. (PMID:19304323)
• Data found that Gfi-1/GATA-2 in immature progenitors and Gfi-1B/GATA-1 in erythroblasts are bound to the Gfi-1B and c-myc promoter. The switch is associated to an increase in Gfi-1B transcription whereas it triggers repression of c-myc transcription. (PMID:19522008)
• Results suggest that increased c-Jun expression due to mutant Shp2-induced Ras hyperactivation, and reduced GATA2 expression promote aberrant monocytic differentiation induced by activating PTPN11 mutants. (PMID:19528235)
• upregulation of GATA-2 may contribute to the progression to aggressive prostate cancer through modulation of expression of androgen receptor and key androgen-regulated genes. (PMID:19684615)
• Results established that GATA2 and c-Jun/c-Fos act additively in modulating the SIRT3-VNTR enhancer function. (PMID:19714312)
• Data show that GATA-2 expression by MSCs from AA patients was significantly lower than in normal subjects, and conversely, expression of PPARgamma was significantly higher in AA patients. (PMID:19772889)
• GATA2 polymorphism is not an important risk factor for sporadic Parkinson disease in Caucasians (PMID:19864173)
• Data suggest that GATA2 does not contribute to the development of angiographic CAD among sporadic cases. (PMID:19885677)
• Chromatin immunoprecipitation-sequencing was used to define GATA-1 and GATA-2 occupancy genome-wide in erythroid cells. (PMID:19941826)
• acetylation of EVI1 at Lys(564) by P/CAF enhances the DNA binding capacity of EVI1 and thereby contributes to the activation of GATA2 (PMID:20363750)
• The chromatin modifications were determined at five PRC2 targets commonly underexpressed in multiple myeloma (CIITA, CXCL12, GATA2, CDH6 and ICSBP/IRF8). The selected genes were confirmed to be underexpressed in MM compared to normal plasma cells. (PMID:20634887)
• T3 increas the affinity of TR interaction with GATA2. (PMID:20838640)
• Forced re-expression of Gata2 was not compatible with sustained growth of leukaemic cells thus suggesting a previously unrecognised role for Gata2 in downregulation during the development of AML (PMID:21297973)
• The genome-wide binding sites for the GATA2 in primary human megakaryocytes to identify the essential regulator of complex mammalian differentiation processes. (PMID:21571218)
• Epigenetically coordinated GATA2 binding is necessary for endothelium-specific endomucin expression. (PMID:21666600)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	gata2a	ENSDARG00000059327
mus_musculus	Gata2	ENSMUSG00000015053
rattus_norvegicus	Gata2	ENSRNOG00000012347
drosophila_melanogaster	srp	FBGN0003507
drosophila_melanogaster	GATAd	FBGN0032223
caenorhabditis_elegans		WBGENE00001250
caenorhabditis_elegans		WBGENE00001252

Paralogs (7): GATA1 (ENSG00000102145), TRPS1 (ENSG00000104447), GATA3 (ENSG00000107485), GATA5 (ENSG00000130700), GATA4 (ENSG00000136574), GATA6 (ENSG00000141448), ZGLP1 (ENSG00000220201)

Protein

Protein identifiers

Endothelial transcription factor GATA-2 — P23769 (reviewed: P23769)

Alternative names: GATA-binding protein 2

All UniProt accessions (6): P23769, A0A1D5RMQ8, A0A8Q3SJG7, A0A8Q3WLD0, A0A8Q3WMC3, C9J965

UniProt curated annotations — full annotation on UniProt →

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

Subunit / interactions. Interacts with BRD3. Interacts with AR and CCAR1. Interacts with MDFIC.

Subcellular location. Nucleus.

Tissue specificity. Endothelial cells.

Disease relevance. Immunodeficiency 21 (IMD21) [MIM:614172] An immunodeficiency disease characterized by profoundly decreased or absent monocytes, B-lymphocytes, natural killer lymphocytes, and circulating and tissue dendritic cells, with little or no effect on T-cell numbers. Clinical features of DCML include susceptibility to disseminated non-tuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis. Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most patients, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. This syndrome links susceptibility to mycobacterial, viral, and fungal infections with malignancy and can be transmitted in an autosomal dominant pattern. The disease is caused by variants affecting the gene represented in this entry. Lymphedema, primary, with myelodysplasia (LMPM) [MIM:614038] A chronic disabling condition characterized by swelling of the extremities due to altered lymphatic flow, associated with myelodysplasia. Patients with lymphedema suffer from recurrent local infections, and physical impairment. The disease is caused by variants affecting the gene represented in this entry. Myelodysplastic syndrome (MDS) [MIM:614286] A heterogeneous group of closely related clonal hematopoietic disorders. All are characterized by a hypercellular or hypocellular bone marrow with impaired morphology and maturation, dysplasia of the myeloid, megakaryocytic and/or erythroid lineages, and peripheral blood cytopenias resulting from ineffective blood cell production. Included diseases are: refractory anemia (RA), refractory anemia with ringed sideroblasts (RARS), refractory anemia with excess blasts (RAEB), refractory cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS); chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative disease. MDS is considered a premalignant condition in a subgroup of patients that often progresses to acute myeloid leukemia (AML). The disease is caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt ID	Names	Canonical?
P23769-1	1	yes
P23769-2	2

RefSeq proteins (3): NP_001139133, NP_001139134, NP_116027* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000679	Znf_GATA	Domain
IPR013088	Znf_NHR/GATA	Homologous_superfamily
IPR016374	TF_GATA-2/3	Family
IPR039355	Transcription_factor_GATA	Family

Pfam: PF00320

UniProt features (33 total): sequence variant 8, sequence conflict 5, strand 4, modified residue 3, zinc finger region 2, helix 2, turn 2, region of interest 2, compositionally biased region 2, chain 1, cross-link 1, splice variant 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
5O9B	SOLUTION NMR
6ZFV	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P23769-F1	57.11	0.17

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (4): 389, 73, 86, 192

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-8939236	RUNX1 regulates transcription of genes involved in differentiation of HSCs
R-HSA-9616222	Transcriptional regulation of granulopoiesis
R-HSA-983231	Factors involved in megakaryocyte development and platelet production

MSigDB gene sets: 588 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_SPINAL_CORD_DEVELOPMENT, PID_HDAC_CLASSI_PATHWAY, GOBP_HINDBRAIN_DEVELOPMENT, GOBP_EMBRYONIC_HEMOPOIESIS, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_REGULATION_OF_FAT_CELL_DIFFERENTIATION, GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, GOBP_SOMATIC_STEM_CELL_POPULATION_MAINTENANCE, BENPORATH_ES_WITH_H3K27ME3, GOBP_POSITIVE_REGULATION_OF_ENDOCYTOSIS, GOBP_POSITIVE_REGULATION_OF_ERYTHROCYTE_DIFFERENTIATION, GOBP_MYELOID_CELL_HOMEOSTASIS, GOBP_NEGATIVE_REGULATION_OF_FAT_CELL_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_LEUKOCYTE_DEGRANULATION

GO Biological Process (72): negative regulation of transcription by RNA polymerase II (GO:0000122), urogenital system development (GO:0001655), cell fate determination (GO:0001709), neuron migration (GO:0001764), embryonic placenta development (GO:0001892), glandular epithelial cell maturation (GO:0002071), hematopoietic progenitor cell differentiation (GO:0002244), transcription by RNA polymerase II (GO:0006366), phagocytosis (GO:0006909), positive regulation of cytosolic calcium ion concentration (GO:0007204), neuroblast proliferation (GO:0007405), negative regulation of neuroblast proliferation (GO:0007406), positive regulation of gene expression (GO:0010628), negative regulation of gene expression (GO:0010629), regulation of primitive erythrocyte differentiation (GO:0010725), ventral spinal cord interneuron differentiation (GO:0021514), cell differentiation in hindbrain (GO:0021533), commitment of neuronal cell to specific neuron type in forebrain (GO:0021902), central nervous system neuron development (GO:0021954), response to lipid (GO:0033993), somatic stem cell population maintenance (GO:0035019), eosinophil fate commitment (GO:0035854), inner ear morphogenesis (GO:0042472), neuron maturation (GO:0042551), positive regulation of mast cell degranulation (GO:0043306), positive regulation of blood vessel endothelial cell migration (GO:0043536), cell fate commitment (GO:0045165), fat cell differentiation (GO:0045444), positive regulation of erythrocyte differentiation (GO:0045648), negative regulation of macrophage differentiation (GO:0045650), positive regulation of megakaryocyte differentiation (GO:0045654), positive regulation of neuron differentiation (GO:0045666), negative regulation of Notch signaling pathway (GO:0045746), positive regulation of angiogenesis (GO:0045766), positive regulation of transcription by RNA polymerase II (GO:0045944), homeostasis of number of cells within a tissue (GO:0048873), positive regulation of phagocytosis (GO:0050766), brown fat cell differentiation (GO:0050873), positive regulation of phagocytosis, engulfment (GO:0060100), thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)

GO Molecular Function (15): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), transcription coregulator binding (GO:0001221), transcription coactivator binding (GO:0001223), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), chromatin binding (GO:0003682), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), RNA polymerase II-specific DNA-binding transcription factor binding (GO:0061629), C2H2 zinc finger domain binding (GO:0070742), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565), metal ion binding (GO:0046872)

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription regulator complex (GO:0005667), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Transcriptional regulation by RUNX1	1
Developmental Biology	1
Hemostasis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
regulation of transcription by RNA polymerase II	2
generation of neurons	2
cell differentiation	2
gene expression	2
regulation of gene expression	2
central nervous system neuron differentiation	2
binding	2
cellular anatomical structure	2
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
system development	1
renal system development	1
cell fate commitment	1
cellular developmental process	1
cell migration	1
in utero embryonic development	1
placenta development	1
embryonic organ development	1
glandular epithelial cell development	1
columnar/cuboidal epithelial cell maturation	1
hemopoiesis	1
DNA-templated transcription	1
endocytosis	1
regulation of biological quality	1
neural precursor cell proliferation	1
neuroblast proliferation	1
negative regulation of neurogenesis	1
regulation of neuroblast proliferation	1
negative regulation of neural precursor cell proliferation	1
positive regulation of macromolecule biosynthetic process	1
negative regulation of macromolecule biosynthetic process	1
regulation of erythrocyte differentiation	1
primitive erythrocyte differentiation	1
cell differentiation in spinal cord	1
ventral spinal cord development	1
hindbrain development	1
forebrain neuron fate commitment	1
neuron development	1
response to chemical	1

Protein interactions and networks

STRING

4626 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GATA2	TAL1	P17542	997
GATA2	LMO2	P25791	994
GATA2	LDB1	Q86U70	988
GATA2	RUNX1	Q01196	982
GATA2	LDB2	O43679	982
GATA2	ZFPM1	Q8IX07	980
GATA2	GATA1	P15976	974
GATA2	SPI1	P17947	917
GATA2	LYL1	P12980	887
GATA2	CEBPA	P49715	872
GATA2	GFI1	Q99684	836
GATA2	GFI1B	Q5VTD9	796
GATA2	JUN	P05412	785
GATA2	QRSL1	Q9H0R6	785
GATA2	CD34	P28906	752

IntAct

127 interactions, top by confidence:

A	B	Type	Score
TCF3	TAL1	psi-mi:“MI:0915”(physical association)	0.880
GATA2	SMAD4	psi-mi:“MI:0915”(physical association)	0.780
SMAD4	GATA2	psi-mi:“MI:0915”(physical association)	0.780
SMAD4	GATA2	psi-mi:“MI:2364”(proximity)	0.780
PSMA3	GATA2	psi-mi:“MI:0915”(physical association)	0.740
GATA2	GOLGA2	psi-mi:“MI:0915”(physical association)	0.740
GATA2	FHL3	psi-mi:“MI:0915”(physical association)	0.740
GATA2	PSMA3	psi-mi:“MI:0915”(physical association)	0.740
GOLGA2	GATA2	psi-mi:“MI:0915”(physical association)	0.740
FHL3	GATA2	psi-mi:“MI:0915”(physical association)	0.740
GATA2	TRIM23	psi-mi:“MI:0915”(physical association)	0.670
NOTCH2NLA	GATA2	psi-mi:“MI:0915”(physical association)	0.670
MDFI	GATA2	psi-mi:“MI:0915”(physical association)	0.670
TRIM23	GATA2	psi-mi:“MI:0915”(physical association)	0.670
GATA2	NOTCH2NLA	psi-mi:“MI:0915”(physical association)	0.670
GATA2	MDFI	psi-mi:“MI:0915”(physical association)	0.670

BioGRID (226): GATA2 (Biochemical Activity), GATA2 (Two-hybrid), GATA2 (Two-hybrid), GOLGA2 (Two-hybrid), MDFI (Two-hybrid), PSMA3 (Two-hybrid), TRAF1 (Two-hybrid), ADAMTSL4 (Two-hybrid), PRR20A (Two-hybrid), KRT40 (Two-hybrid), KRTAP10-9 (Two-hybrid), KRTAP10-3 (Two-hybrid), NOTCH2NL (Two-hybrid), GATA2 (Affinity Capture-MS), FBXW7 (Affinity Capture-Western)

ESM2 similar proteins: A0JC51, A5ABV9, O08656, O09100, O18896, O57311, O60481, O73689, O95409, P09022, P10070, P19544, P22561, P23769, P23770, P23771, P23772, P23824, P25932, P46684, P49639, P49952, P54655, P55878, P70062, P70063, Q08DV0, Q0VGT2, Q15915, Q62520, Q62521, Q6DJQ6, Q6VVD7, Q6XP49, Q7TQ40, Q800Q5, Q8JJC0, Q91689, Q924A0, Q924Y4

Diamond homologs: B4XXY3, B7WN96, G5EB20, G5EGF4, G5EGN3, N4XMB0, O09100, O13412, O13415, O13508, O61924, O94720, P15976, P17429, P17678, P17679, P19212, P23767, P23768, P23769, P23770, P23771, P23772, P23773, P23824, P23825, P26343, P28515, P40349, P42944, P43429, P43574, P43691, P43692, P43693, P43694, P43695, P43696, P46152, P46153

SIGNOR signaling

38 interactions.

A	Effect	B	Mechanism
GATA2	“down-regulates activity”	PPARG
AKT1	down-regulates	GATA2	phosphorylation
INS	down-regulates	GATA2
MAPK14	up-regulates	GATA2	phosphorylation
AKT	“down-regulates activity”	GATA2	phosphorylation
NANOG	“down-regulates quantity by repression”	GATA2	“transcriptional regulation”
FBXW7	“down-regulates quantity by destabilization”	GATA2	ubiquitination
GATA2	“up-regulates quantity by expression”	GATA1	“transcriptional regulation”
GATA1	“down-regulates quantity by repression”	GATA2	“transcriptional regulation”
ZFPM1	“down-regulates quantity by repression”	GATA2	“transcriptional regulation”
SPI1	“down-regulates quantity by repression”	GATA2	“transcriptional regulation”
GATA2	“down-regulates activity”	SPI1	binding
GATA2	“up-regulates quantity by expression”	GATA2	“transcriptional regulation”
ZC3H12A	“up-regulates quantity”	GATA2	“post transcriptional regulation”
HRAS	“up-regulates activity”	GATA2	phosphorylation
MAPK14	“up-regulates activity”	GATA2	phosphorylation
GATA2	“down-regulates quantity”	CYBB	“transcriptional regulation”
GATA2	“down-regulates quantity”	PPARG	“transcriptional regulation”
RAD21	“down-regulates activity”	GATA2	relocalization
MECOM	“up-regulates quantity by expression”	GATA2	“transcriptional regulation”
GATA2	“up-regulates quantity by expression”	TSHB	“transcriptional regulation”
THRB	“down-regulates activity”	GATA2	binding
THRA	“down-regulates activity”	GATA2	binding
THR	“down-regulates activity”	GATA2	binding
CDK1	“down-regulates quantity by destabilization”	GATA2	phosphorylation
SCF-FBW7	“down-regulates quantity by destabilization”	GATA2	ubiquitination
SMO	“up-regulates activity”	GATA2
GATA2	“up-regulates quantity by expression”	SPI1	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 53 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Transcriptional regulation by RUNX1	5	18.8×	9e-04
Formation of the beta-catenin:TCF transactivating complex	5	15.4×	1e-03
RUNX1 regulates transcription of genes involved in differentiation of HSCs	5	12.2×	3e-03
Keratinization	8	11.4×	8e-05

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of miRNA transcription	6	43.6×	1e-06

Disease & clinical

Cancer significance

From CIViC — curated cancer-variant interpretation:

GATA2 is a transcription factor involved in stem cell maintenance with key roles in hematopoietic development. GATA2 mutations are associated with a variety of inherited and acquired immune disorders including myelodysplastic syndrome and acute myeloid leukemia. In addition to a role in hematopoiesis, the maintenance GATA2 expression has been implicated as a requirement in KRAS-driven non-small cell lung cancer. Preclinical models have indicated therapeutic benefit from targeting GATA2-mediated pathways in the context of KRAS-driven NSCLC.

From intOGen — cancer-driver classification: activating (oncogene-like) across 2 cancer types — AML, HNSC.

Clinical variants and AI predictions

ClinVar

1850 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	152
Likely pathogenic	57
Uncertain significance	888
Likely benign	579
Benign	34

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1013219	NM_032638.5(GATA2):c.177C>G (p.Tyr59Ter)	Pathogenic
1069970	NM_032638.5(GATA2):c.437dup (p.Gly147fs)	Pathogenic
1075473	NM_032638.5(GATA2):c.839dup (p.Pro280_Lys281insTer)	Pathogenic
1075475	NM_032638.5(GATA2):c.476_479dup (p.Pro161fs)	Pathogenic
1183993	Single allele	Pathogenic
1184007	NM_032638.5(GATA2):c.83del (p.Gly28fs)	Pathogenic
1184008	NM_032638.5(GATA2):c.1073C>A (p.Thr358Asn)	Pathogenic
1184012	NM_032638.5(GATA2):c.1172_1175del (p.Glu391fs)	Pathogenic
1184014	NM_032638.5(GATA2):c.1200_1216dup (p.Lys406fs)	Pathogenic
1184015	NM_032638.5(GATA2):c.1281dup (p.Phe428fs)	Pathogenic
1184018	NC_000003.11:g.(?128199862)(128205874_?)del	Pathogenic
1184019	NC_000003.11:g.(?128199862)(128200787_?)del	Pathogenic
1184142	NM_032638.5(GATA2):c.17_18del (p.Glu6fs)	Pathogenic
1184144	NM_032638.5(GATA2):c.941_951del (p.Tyr314fs)	Pathogenic
1184146	NM_032638.5(GATA2):c.941_951dup (p.Ala318fs)	Pathogenic
1184147	NM_032638.5(GATA2):c.952G>A (p.Ala318Thr)	Pathogenic
1184148	NM_032638.5(GATA2):c.956_962del (p.Cys319fs)	Pathogenic
1184149	NM_032638.5(GATA2):c.968dup (p.His323fs)	Pathogenic
1184150	NM_032638.5(GATA2):c.982C>T (p.Gln328Ter)	Pathogenic
1184151	NM_032638.5(GATA2):c.989_992dup (p.Leu332fs)	Pathogenic
1184152	NM_032638.5(GATA2):c.970_994dup (p.Leu332fs)	Pathogenic
1184153	NM_032638.5(GATA2):c.1017+1del	Pathogenic
1184154	NM_032638.5(GATA2):c.1017+2T>G	Pathogenic
1184155	NM_032638.5(GATA2):c.1017+2T>C	Pathogenic
1184158	NM_032638.5(GATA2):c.1099del (p.Asp367fs)	Pathogenic
1184159	NM_032638.5(GATA2):c.1099dup (p.Asp367fs)	Pathogenic
1184160	NM_032638.5(GATA2):c.1103_1104del (p.Pro368fs)	Pathogenic
1184163	NM_032638.5(GATA2):c.1113del (p.Asn371fs)	Pathogenic
1184166	NM_032638.5(GATA2):c.130G>T (p.Glu44Ter)	Pathogenic
1184167	NM_032638.5(GATA2):c.161C>A (p.Ser54Ter)	Pathogenic

SpliceAI

1343 predictions. Top by Δscore:

Variant	Effect	Δscore
3:128481314:TTAAC:T	acceptor_gain	1.0000
3:128481315:TAAC:T	acceptor_gain	1.0000
3:128481317:AC:A	acceptor_gain	1.0000
3:128481318:CC:C	acceptor_gain	1.0000
3:128481319:C:CC	acceptor_gain	1.0000
3:128481815:TCA:T	donor_loss	1.0000
3:128481816:CA:C	donor_loss	1.0000
3:128481817:A:AC	donor_gain	1.0000
3:128481818:C:CA	donor_gain	1.0000
3:128481818:CA:C	donor_gain	1.0000
3:128481818:CAT:C	donor_gain	1.0000
3:128481818:CATT:C	donor_gain	1.0000
3:128481940:GCCGA:G	acceptor_gain	1.0000
3:128481941:CCGA:C	acceptor_gain	1.0000
3:128481941:CCGAC:C	acceptor_gain	1.0000
3:128481942:CGA:C	acceptor_gain	1.0000
3:128481942:CGAC:C	acceptor_gain	1.0000
3:128481943:G:T	acceptor_gain	1.0000
3:128481943:GA:G	acceptor_gain	1.0000
3:128481945:C:CC	acceptor_gain	1.0000
3:128481945:C:T	acceptor_loss	1.0000
3:128483858:A:AC	donor_gain	1.0000
3:128483859:C:CC	donor_gain	1.0000
3:128483859:CCAGT:C	donor_gain	1.0000
3:128484003:CTT:C	acceptor_gain	1.0000
3:128484006:C:CC	acceptor_gain	1.0000
3:128486369:C:CC	acceptor_gain	1.0000
3:128486798:CTCA:C	donor_loss	1.0000
3:128486800:CACCG:C	donor_loss	1.0000
3:128486801:A:AC	donor_gain	1.0000

AlphaMissense

3107 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:128481265:C:A	K399N	1.000
3:128481265:C:G	K399N	1.000
3:128481267:T:C	K399E	1.000
3:128481269:C:A	R398L	1.000
3:128481269:C:G	R398P	1.000
3:128481269:C:T	R398Q	1.000
3:128481270:G:A	R398W	1.000
3:128481270:G:C	R398G	1.000
3:128481273:T:C	N397D	1.000
3:128481275:C:A	R396L	1.000
3:128481275:C:G	R396P	1.000
3:128481275:C:T	R396Q	1.000
3:128481276:G:A	R396W	1.000
3:128481276:G:C	R396G	1.000
3:128481278:G:A	T395I	1.000
3:128481280:C:A	Q394H	1.000
3:128481280:C:G	Q394H	1.000
3:128481281:T:G	Q394P	1.000
3:128481283:G:C	I393M	1.000
3:128481284:A:C	I393S	1.000
3:128481284:A:G	I393T	1.000
3:128481284:A:T	I393N	1.000
3:128481285:T:A	I393F	1.000
3:128481292:C:A	K390N	1.000
3:128481292:C:G	K390N	1.000
3:128481293:T:A	K390M	1.000
3:128481294:T:C	K390E	1.000
3:128481294:T:G	K390Q	1.000
3:128481295:C:A	K389N	1.000
3:128481295:C:G	K389N	1.000

dbSNP variants (sampled 300 via entrez): RS1000039299 (3:128492405 C>T), RS1000133717 (3:128481618 C>G,T), RS1000162796 (3:128490650 ATGTC>A), RS1000269534 (3:128480026 T>C), RS1000306401 (3:128484677 C>T), RS1000574868 (3:128488261 C>T), RS1000750896 (3:128488520 C>T), RS1001181862 (3:128479058 A>C), RS1001207532 (3:128482567 G>A), RS1001756362 (3:128489816 G>A), RS1001942417 (3:128485395 C>T), RS1002047792 (3:128491349 CTGGGGG>C), RS1002541648 (3:128490953 G>A), RS1002640817 (3:128485009 A>G), RS1002642218 (3:128481573 C>T)

Disease associations

OMIM: gene MIM:137295 | disease phenotypes: MIM:614038, MIM:614172, MIM:601626, MIM:614286, MIM:265380

GenCC curated gene-disease

Disease	Classification	Inheritance
monocytopenia with susceptibility to infections	Definitive	Autosomal dominant
deafness-lymphedema-leukemia syndrome	Definitive	Autosomal dominant
acute myeloid leukemia	Strong	Autosomal dominant
myelodysplastic syndrome	Strong	Autosomal dominant
GATA2 deficiency with susceptibility to MDS/AML	Strong	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
GATA2 deficiency with susceptibility to MDS/AML	Definitive	AD

Mondo (9): deafness-lymphedema-leukemia syndrome (MONDO:0013540), monocytopenia with susceptibility to infections (MONDO:0013607), acute myeloid leukemia (MONDO:0018874), GATA2 deficiency with susceptibility to MDS/AML (MONDO:0042982), myelodysplastic syndrome (MONDO:0018881), hereditary neoplastic syndrome (MONDO:0015356), leukemia, acute myeloid, susceptibility to (MONDO:0100173), alveolar capillary dysplasia with misalignment of pulmonary veins (MONDO:0009934), anemia (MONDO:0002280)

Orphanet (6): GATA2 deficiency spectrum (Orphanet:228423), Deafness-lymphedema-leukemia syndrome (Orphanet:3226), Acute myeloid leukemia (Orphanet:519), Myelodysplastic syndrome (Orphanet:52688), Inherited cancer-predisposing syndrome (Orphanet:140162), Congenital alveolar capillary dysplasia (Orphanet:210122)

HPO phenotypes

58 total (30 of 58 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000286	Epicanthus
HP:0000389	Chronic otitis media
HP:0000407	Sensorineural hearing impairment
HP:0000465	Webbed neck
HP:0000572	Visual loss
HP:0000587	Abnormal optic nerve morphology
HP:0000601	Hypotelorism
HP:0000978	Bruising susceptibility
HP:0000980	Pallor
HP:0001004	Lymphedema
HP:0001182	Tapered finger
HP:0001442	Typified by somatic mosaicism
HP:0001744	Splenomegaly
HP:0001824	Weight loss
HP:0001873	Thrombocytopenia
HP:0001875	Decreased total neutrophil count
HP:0001876	Pancytopenia
HP:0001888	Decreased total lymphocyte count
HP:0001903	Anemia
HP:0001909	Leukemia
HP:0001915	Aplastic anemia
HP:0001945	Fever
HP:0001974	Increased total leukocyte count
HP:0002017	Nausea and vomiting
HP:0002076	Migraine
HP:0002167	Abnormal speech pattern
HP:0002170	Intracranial hemorrhage
HP:0002205	Recurrent respiratory infections
HP:0002240	Hepatomegaly

GWAS associations

25 associations (top):

Study	Trait	p-value
GCST000339_4	Eosinophil count	9.000000e-17
GCST001134_6	White blood cell types	5.000000e-40
GCST001134_8	White blood cell types	3.000000e-17
GCST001137_5	White blood cell count	6.000000e-13
GCST004127_1	White blood cell count (basophil)	1.000000e-26
GCST004135_1	White blood cell count (eosinophil)	5.000000e-11
GCST004278_33	Pulse pressure	2.000000e-09
GCST004632_145	Lymphocyte percentage of white cells	3.000000e-16
GCST004633_116	Neutrophil percentage of white cells	2.000000e-11
GCST004898_1	Preterm birth (maternal effect)	2.000000e-12
GCST007096_35	Pulse pressure	2.000000e-10
GCST007099_197	Systolic blood pressure	1.000000e-06
GCST007268_14	Diastolic blood pressure	9.000000e-09
GCST007269_88	Pulse pressure	2.000000e-13
GCST007611_8	Chronic obstructive pulmonary disease or high blood pressure (pleiotropy)	9.000000e-10
GCST008860_33	Prostate cancer	6.000000e-23
GCST010240_2	Basophil count	1.000000e-11
GCST90000032_1	Myeloproliferative neoplasms	3.000000e-07
GCST90002388_467	Lymphocyte count	6.000000e-17
GCST90002389_27	Lymphocyte percentage of white cells	5.000000e-09
GCST90002389_28	Lymphocyte percentage of white cells	2.000000e-11
GCST90002394_251	Monocyte percentage of white cells	8.000000e-14
GCST90002398_101	Neutrophil count	3.000000e-18
GCST90002399_403	Neutrophil percentage of white cells	1.000000e-37
GCST90002400_397	Plateletcrit	1.000000e-13

EFO canonical traits (15, from GWAS)

EFO ID	Trait name
EFO:0004842	eosinophil count
EFO:0005090	basophil count
EFO:0005091	monocyte count
EFO:0005763	pulse pressure measurement
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0007990	neutrophil percentage of leukocytes
EFO:0003917	premature birth
EFO:0005939	parental genotype effect measurement
EFO:0006335	systolic blood pressure
EFO:0006336	diastolic blood pressure
EFO:0004251	myeloproliferative disorder
EFO:0004587	lymphocyte count
EFO:0007989	monocyte percentage of leukocytes
EFO:0004833	neutrophil count
EFO:0007985	platelet crit

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D000740	Anemia	C15.378.050
D015470	Leukemia, Myeloid, Acute	C04.557.337.539.275; C15.378.508.539.275
D009386	Neoplastic Syndromes, Hereditary	C04.700; C16.320.700
C536590	Alveolar capillary dysplasia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4523206 (SINGLE PROTEIN)

Clinical evidence (CIViC)

Drug × variant × indication: 1 predictive associations from 1 curated evidence items.

Variant	Therapy	Indication	Effect	Level	CIViC
GATA2 EXPRESSION	Bortezomib + Fasudil	Lung Adenocarcinoma	Sensitivity/Response	CIViC D	EID301

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

91 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	5
trichostatin A	increases expression, affects cotreatment	4
Benzo(a)pyrene	affects methylation, affects cotreatment, decreases expression, decreases reaction, increases expression	4
Tretinoin	decreases expression, increases expression	4
sodium arsenite	affects cotreatment, decreases expression, increases expression	2
hydroquinone	decreases expression, decreases reaction, affects binding, increases reaction, affects expression (+1 more)	2
mercuric bromide	increases expression, affects cotreatment	2
entinostat	increases expression, affects cotreatment	2
Decitabine	affects cotreatment, increases expression	2
Arsenic Trioxide	affects methylation, increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Cisplatin	increases expression, decreases expression, affects cotreatment	2
Doxorubicin	affects response to substance, affects uptake, decreases expression	2
Hemin	affects expression, decreases expression, affects reaction, decreases reaction, increases reaction	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
Butyric Acid	increases expression, increases reaction	2
p-Chloromercuribenzoic Acid	affects cotreatment, increases expression	2
aristolochic acid I	increases expression	1
FR900359	decreases phosphorylation	1
dicrotophos	increases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
hydroxyhydroquinone	decreases expression, increases reaction	1
mono-(2-ethylhexyl)phthalate	increases abundance, decreases methylation	1
butyraldehyde	increases expression	1
benzo(e)pyrene	increases methylation	1
potassium chromate(VI)	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4421274	Binding	Inhibition of GATA2 in HUVEC assessed as reduction of GATA2 transcriptional activity by genome-wide RNA-seq and ChlP-seq analysis	Inhibitors of sox18 protein activity for treating angiogenesis- and/or lymphangiogenesis-related diseases

Cellosaurus cell lines

18 cell lines: 12 cancer cell line, 3 embryonic stem cell, 2 induced pluripotent stem cell, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A2F4	SEES3-1V human GATA2, clone1	Embryonic stem cell	Male
CVCL_A2F5	SEES3-1V human GATA2, clone2	Embryonic stem cell	Male
CVCL_A2F6	SEES3-1V human GATA2, clone3	Embryonic stem cell	Male
CVCL_A8KU	ESi086-A-1	Induced pluripotent stem cell	Male
CVCL_A8KV	ESi086-A-2	Induced pluripotent stem cell	Male
CVCL_AW22	K562 eGFP-GATA2	Cancer cell line	Female
CVCL_B1AW	Abcam HEK293 GATA2 KO	Transformed cell line	Female
CVCL_B8GQ	Abcam HCT 116 GATA2 KO	Cancer cell line	Male
CVCL_B8W9	Abcam MCF-7 GATA2 KO	Cancer cell line	Female
CVCL_B9IY	Abcam A-549 GATA2 KO	Cancer cell line	Male

Clinical trials (associated diseases)

301 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00199147	PHASE4	UNKNOWN	Efficacy of G-CSF-Priming in Elderly AML Patients
NCT00304447	PHASE4	COMPLETED	Study Evaluating the Effect of Corticosteroids on Mylotarg® Infusion-Related Adverse Events in Patients With Leukemia
NCT00464217	PHASE4	COMPLETED	Treatment of the Acute Myeloblastic Leukaemia in Patients Over 65 Years
NCT00487448	PHASE4	COMPLETED	SMD_FLAG-IDA_98: FLAG-IDA in Induction Treatment of High Risk Myelodysplastic Syndromes or Secondary Acute Myeloblastic Leukemia
NCT00488709	PHASE4	COMPLETED	Fludarabine, Cytarabine, Topotecan in Treating Patients With Relapsed or Refractory Acute Myeloid Leukemia
NCT00686543	PHASE4	COMPLETED	Oral Posaconazole in High Risk Patients With Gastrointestinal Dysfunction (Study P05115)
NCT01041040	PHASE4	COMPLETED	LAM07: Study to Analyze the Efficacy of a Risk Adapted Treatment Strategy, Including Gemtuzumab Ozogamicin (GO) During Consolidation, for Patients With Acute Myeloid Leukemia (AML)
NCT01198054	PHASE4	TERMINATED	LENA-LMA-5:Lenalidomide in Acute Myeloid Leukemia (AML)
NCT01200355	PHASE4	COMPLETED	Posaconazole Versus Micafungin for Prophylaxis Against Invasive Fungal Infections During Neutropenia in Patients Undergoing Chemotherapy for Acute Myelogenous Leukemia, Acute Lymphocytic Leukemia or Myelodysplastic Syndrome
NCT01347996	PHASE4	COMPLETED	Maintenance Therapy With Ceplene® (Histamine) and IL-2 on Immune Response and MRD in Acute Myeloid Leukemia
NCT01587430	PHASE4	UNKNOWN	3 Anthracyclines, 2 Types of Consolidation With Different ARA-C Doses and Maintenance in Adult Acute Myeloid Leukemia
NCT01819792	PHASE4	COMPLETED	Respiratory Viral Infections During Acute Myeloid Leukemia (AML)Chemotherapy Related Aplasia
NCT02024308	PHASE4	UNKNOWN	AML1-ETO Acute Myeloid Leukemia With Fludarabine and Cytarabine Chemotherapy
NCT02027064	PHASE4	UNKNOWN	Interferon for the Intervention of Molecular Relapse in t (8; 21) AML After Allo-HSCT
NCT02277847	PHASE4	UNKNOWN	Idarubicin at Different Dosages as Induction Therapy for Newly Diagnosed Acute Myeloid Leukaemia
NCT02386800	PHASE4	ACTIVE_NOT_RECRUITING	CINC424A2X01B Rollover Protocol
NCT02926586	PHASE4	COMPLETED	Fludarabine and Cytarabine Versus High-dose Cytarabine for CBF-AML
NCT02933333	PHASE4	UNKNOWN	G-CSF Alone or Combination With GM-CSF on Prevention and Treatment of Infection in Children With Malignant Tumor
NCT03026842	PHASE4	UNKNOWN	Decitabine Versus Conventional Chemotherapy for Maintenance Therapy of Acute Myeloid Leukemia With t(8;21)
NCT03150134	PHASE4	UNKNOWN	Early Tapering of Immunosuppressive Agents to Immunomodulation to Improve Survival of AML Patients
NCT05144243	PHASE4	ACTIVE_NOT_RECRUITING	Study to Assess Adverse Events and Change in Disease State of Oral Venetoclax in Combination With Subcutaneous (SC) Azacitidine in Newly Diagnosed Adult Participants With Acute Myeloid Leukemia (AML) Who Are Ineligible for Intensive Chemotherapy in China
NCT06370000	PHASE4	RECRUITING	Oral Azacitidine in Transplant-Eligible Patients With Acute Myeloid Leukemia (AML) Suffering From Health-Inequality
NCT06571825	PHASE4	RECRUITING	RIC Allo-HSCT vs. Venetoclax-Based Consolidation in Elderly AML Patients After First CR
NCT07016165	PHASE4	RECRUITING	Ciprofloxacin vs Ceftazidime for Empirical Treatment of High-Risk Neutropenic Fever in Children With Hematologic Malignancies
NCT07044687	PHASE4	RECRUITING	Study to Assess Adverse Events and Change in Disease Activity of Oral Venetoclax in Combination With Subcutaneous (SC) or Intravenous (IV) Azacitidine in Newly Diagnosed Adult Participants With Acute Myeloid Leukemia (AML) Who Are Ineligible for Standard Induction Therapy in India
NCT07486713	PHASE4	RECRUITING	Olutasidenib DDI Study in Patients With IDH1 Mutation Positive Malignancies
NCT07561892	PHASE4	RECRUITING	Study of the Effectiveness and Safety of Daunorubicin /Idarubicin ± Silibinin in Treating Newly Diagnosed AML (Non-M3).
NCT00000589	PHASE3	COMPLETED	Trial to Reduce Alloimmunization to Platelets (TRAP)
NCT00044486	PHASE3	COMPLETED	Prophylaxis Trial of Posaconazole Versus Standard Azole Therapy for Neutropenic Patients (Study P01899)
NCT00093990	PHASE3	COMPLETED	Tipifarnib Versus Best Supportive Care in the Treatment of Newly Diagnosed Acute Myeloid Leukemia (AML)
NCT00125606	PHASE3	TERMINATED	Phase 3 Trial for AML Patients in CR2 Comparing 8Gy TBI /Fludarabine to Conditioning With TBI 12Gy/Cyclophosphamide
NCT00136084	PHASE3	COMPLETED	Treatment of Patients With Newly Diagnosed Acute Myeloid Leukemia or Myelodysplasia
NCT00146120	PHASE3	COMPLETED	Risk-Adapted Therapy of Acute Myeloid Leukemia of Adults (18-60 Years) According to the Cytogenetic Result
NCT00150878	PHASE3	TERMINATED	Standard vs. Reduced-Intensity Conditioning in Patients With Acute Myeloid Leukemia in First Remission
NCT00151255	PHASE3	COMPLETED	All-Trans Retinoic Acid in Combination With Standard Induction and Consolidation Therapy in Older Patients With Newly Diagnosed Acute Myeloid Leukemia
NCT00152139	PHASE3	COMPLETED	Stem Cell Transplantation for Patients With Hematologic Malignancies
NCT00152594	PHASE3	TERMINATED	Voriconazole or Placebo in the Prophylaxis of Lung Infiltrates in Patients Undergoing Induction Chemotherapy for Acute Myelogenous Leukemia
NCT00186966	PHASE3	COMPLETED	Treatment of Children and Adolescents With Refractory or Relapsed Acute Myeloid Leukemia
NCT00226512	PHASE3	WITHDRAWN	To Determine the Role of Adding Campath-1H or ATG Given In-vivo in Addition to Fludarabine and Low Dose Busulfex on Outcome in Patients Treated With Reduced Intensity Conditioning
NCT00260832	PHASE3	COMPLETED	Trial of Decitabine in Patients With Acute Myeloid Leukemia