Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

GATA2 (GATA binding protein 2)

Written2009-01Franck Viguié
Laboratoire de Cytogenetique - Service d'Hématologie Biologique, Hopital Hotel-Dieu - 75181 Paris Cedex 04, France
Updated2015-11Ritsuko Shimizu, Masayuki Yamamoto
Tohoku University Graduate School of Medicine, Sendai, Japan

Abstract Review on GATA2, with data on DNA, on the protein encoded, and where the gene is implicated.

Keywords GATA2; DCML deficiency; Emberger syndrome; 3q21q26 syndrome; leukemias; solid tumors.

(Note : for Links provided by Atlas : click)


Other aliasMGC2306
LocusID (NCBI) 2624
Atlas_Id 44160
Location 3q21.3 128,479,427-128,493,185 reverse strand  [Link to chromosome band 3q21]
Location_base_pair Starts at and ends at bp from pter
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
GATA2 (3q21.3) / H19 (11p15.5)GATA2 (3q21.3) / HOXA9 (7p15.2)GATA2 (3q21.3) / LAMP2 (Xq24)
PPP1R3B (8p23.1) / GATA2 (3q21.3)


Description Genomic DNA 13,759bp, 6 exons ((two untranslated first exons that utilized differentially and five translated exons).
Transcription The distal (IS) exon specifically utilized in hematopoietic and neural cells, while the proximal (IG) exon is utilized ubiquitously, producing 3383-bp and 3484-bp transcripts, respectively. These two variant transcripts encode the same protein. Trancription is oriented from telomere to centromere.


Description Contains 2 zinc finger domains, ZF1 (aa 294 to 344) and ZF2 (aa 349 to 398).
Expression Strictly regulated and tissue specific. Gene activity depends on several trans regulators and cis-acting regulatory elements scattered in a wide range around the gene. 3.1-kbp upstream of IS exon recapitulates endogenous Gata2 gene expression in yolk sacs and paraaortic splanchnopleura hematopoietic cells in mice. An enhancer in 77-kbp upstream of GATA2 gene and GATA-box-E-box composite element in the fourth intron are important in adult hematopoiesis and implicated in the leukemogenesis in humans (see below). In non-hematopoietic tissues, the element in the fourth intron works as an endothelial specific enhancer, whereas enhancer(s) located between +75- and +113-kbp to the translational initiation site are responsible to the Gata2 expression in caudal periureteric mesenchyme/ urogenital sinus and rostral metanephric mesenchyme in mice, respectively. It has been considered that currently not-identified enhancer(s) for urogenital organs development are located more distal region of Gata2 gene..
Localisation Nuclear.
Function Binds to the consensus sequence 5'-(A/T)GATA(A/G)-3'. Transcriptional activator which is expressed very early in hematopoiesis and plays a role in development and regulation of every early pluripotent hematopoietic precursor, but also of eosinophils, basophils and mast cells. Early stages of erythroid differentiation depends of GATA2, but during maturation GATA2 expression decreases progressively at the benefit of GATA1. GATA2 suppresses differentiation of bone marrow mesenchyme stem cells to adipocytes and sustains the hematopoietic stem cell environment. GATA2 also plays roles in development of neural system, urogenital organs and vascular system.
Homology Member of the GATA family which contains 6 known members; only GATA1, GATA2 and GATA3 are involved in hematopoiesi


Germinal Loss-of-function mutations and dominant-negative mutations have been found as a cause of Familial myelodysplastic syndrome (MDS), DCML deficiency and Emberger syndrome, which are in a group of complex syndromes predisposing to leukemia with overlapping clinical features. Mutation in GATA-box-E-box composite element in the fourth intron, which leads to reduction of GATA2 gene expression, has been found in a pedigree of MonoMAC syndrome family.
Somatic Chromosomal rearrangements involving the 77-kbp upstream region of GATA2 gene on 3q21 and MECOM (EVI1) gene on 3q26 are associated with MDS and acute myeloid leukemia (AML). This type of hematopoietic malignancies is referred to as 3q21q26 syndrome. Mutations are found as a cause of acute myeloid transformation of chronic myeloid leukemia (CML).

Implicated in

Entity DCML deficiency
Disease Immunodeficiency syndrome associated with loss of dendritic cells, monocytes, B and NK cells, leading to the increasing incidence of mycobacterial, fungal and viral infections. This disease occurs sporadically or in an autosomal dominant inheritance with incomplete penetrance. Patients with DCML deficiency have high incidence of developing hematopoietic malignancies. DCML deficiency with mycobacterium avium complex infection has been described as "monoMAC (monocytopenia with Mycobacterium avium complex) syndrome".
Prognosis Prone to develop MDS and AML.
Entity Emberger syndrome
Disease Sporadic or autosomal dominant disease with incomplete penetrance, which has a characteristic feature of primary lymphoedema with myelodysplasia. The lymphedema generally confined to the lower limbs and genitals.
Prognosis Prone to develop AML.
Entity 3q21q26 syndrome
Disease Hematopoietic malignancies, including MDS and AML, caused by a chromosomal aberration between the regions 3q21 and 3q26. The 77-kbp upstream region of GATA2 gene on 3q21 is rearranged proximal to the Evi1 locus on 3q26 by the translocation or inversion. Aberrant expression of EVI1 gene lead by the activity of GATA2 enhancer is appeared to be involved in the pathogenesis and poor prognosis of this disease.
Prognosis Unfavorable prognosis.
Cytogenetics inv(3)(q21q26), t(3;3)(q21;q26).
Entity Acute promyelocytic leukaemia (APL)
Disease GATA2 may be involved in APL leukemogenesis by physical interaction with the PML component of PML-RARa fusion or with the variant PLZF-RARa fusion, generated respectively by t(15;17) or t(11;17) translocation.
Entity Myelodysplasic syndrome
Disease GATA2 is expressed in MDS, but not in normal controls; the frequency of expression increases with the severity of dysplasia (100% in RAEB/RAEB-T).
Entity Myeloid transformation of chronic myelooid leukemia CML
Disease Out of 85 unselected cases of CML blast transformation, 9 showed a GATA2 mutation: 8 with a T-->G substitution at aa359 in ZF2 (L359V) and 1 with a 6 aa deletion (aa 341 to 346) in ZF1. All 9 transformations were myeloid, with a myeloblastic or monoblastic morphology. L359V leads to a gain of function of GATA2 protein.
Entity Aplastic anemia (AA)
Disease Hypothetical. In knockout mice, GATA2 haploinsufficiency leads to a decrease of hematopoietic stem cells number and efficiency. In human, GATA2 mRNA expression is largely reduced in patients with AA.
Entity Prostate cancer
Disease High expression of GATA2 is associated with aggressiveness, high metastasis ratio and resistance for therapy in prostate cancer through, in part, the activation of androgen-receptor target genes in ligand-independent pathway.
Prognosis Unfavorable prognosis.
Entity Non-small cell lung cancer
Disease GATA2 is required for the survival of Ras-mediated NSCLC by controlling IL-1/NF-κB signaling. Knockdown of GATA2 expression lead to a reduction of tumor burden in mouse model of NSCLC, suggesting that GATA2 is a therapeutic target of Ras mutant cancers.
Entity Glioma
Disease The level of GATA2 expression that might be regulated by EGFR/ERK signaling pathway is correlated with prognosis of glioma patients.
Entity Neuroblastoma
Disease The expression level of GATA2 is reverse-correlated with aggressiveness, as GATA2 may negatively regulate proliferation of neuroblastoma cells.
Entity Renal cell carcinoma (RCC)
Disease The expression level of GATA2 is reverse-correlated with aggressiveness, possibility of metastasis, and risk of recurrence in clear cell RCC.
Entity Hepatocellular carcinoma
Disease The expression level of GATA2 is reverse-correlated with poor prognosis of hepatocellular carcinoma. Knockdown of GATA2 expression enhances the proliferation of a human liver cancer cell line in vitro.
Entity Colorectal cancer
Disease High level of GATA2 expression is correlated with aggressive feature, high recurrence rate and poor outcome of colorectal cancer.
Entity Breast cancer
Disease Roles of GATA2 in pathogenesis of breast cancer are contraversial. Reports describing that GATA2 level was increased in breast cancer showed that GATA2 might be related to tumor progression by repressing PTEN activity and/or promoting expression of aromatase gene, whereas another report showed that the expression GATA2 gene was silenced by aberrant hyper-methylation of GATA2 promoter region.


DNA methylation changes in murine breast adenocarcinomas allow the identification of candidate genes for human breast carcinogenesis
Acosta D, Suzuki M, Connolly D, Thompson RF, Fazzari MJ, Greally JM, Montagna C
Mamm Genome 2011 Apr;22(3-4):249-59
PMID 21373886
A role for GATA-2 in transition to an aggressive phenotype in prostate cancer through modulation of key androgen-regulated genes
Böhm M, Locke WJ, Sutherland RL, Kench JG, Henshall SM
Oncogene 2009 Oct 29;28(43):3847-56
PMID 19684615
Defining the functional boundaries of the Gata2 locus by rescue with a linked bacterial artificial chromosome transgene
Brandt W, Khandekar M, Suzuki N, Yamamoto M, Lim KC, Engel JD
J Biol Chem 2008 Apr 4;283(14):8976-83
PMID 18211891
GATA-1 and GATA-2 gene expression is related to the severity of dysplasia in myelodysplastic syndrome
Fadilah SA, Cheong SK, Roslan H, Rozie-Hanisa M, Yen GK
Leukemia 2002 Aug;16(8):1563-5
PMID 12145700
Decreased expression of transcription factor GATA-2 in haematopoietic stem cells in patients with aplastic anaemia
Fujimaki S, Harigae H, Sugawara T, Takasawa N, Sasaki T, Kaku M
Br J Haematol 2001 Apr;113(1):52-7
PMID 11328281
A single oncogenic enhancer rearrangement causes concomitant EVI1 and GATA2 deregulation in leukemia
Gröschel S, Sanders MA, Hoogenboezem R, de Wit E, Bouwman BA, Erpelinck C, van der Velden VH, Havermans M, Avellino R, van Lom K, Rombouts EJ, van Duin M, Döhner K, Beverloo HB, Bradner JE, Döhner H, Löwenberg B, Valk PJ, Bindels EM, de Laat W, Delwel R
Cell 2014 Apr 10;157(2):369-81
PMID 24703711
GATA transcription factors and hematological diseases
Harigae H
Tohoku J Exp Med 2006 Sep;210(1):1-9
PMID 16960339
GATA factors in human neuroblastoma: distinctive expression patterns in clinical subtypes
Hoene V, Fischer M, Ivanova A, Wallach T, Berthold F, Dame C
Br J Cancer 2009 Oct 20;101(8):1481-9
PMID 19707195
Cis-element mutated in GATA2-dependent immunodeficiency governs hematopoiesis and vascular integrity
Johnson KD, Hsu AP, Ryu MJ, Wang J, Gao X, Boyer ME, Liu Y, Lee Y, Calvo KR, Keles S, Zhang J, Holland SM, Bresnick EH
J Clin Invest 2012 Oct;122(10):3692-704
GATA2 regulates differentiation of bone marrow-derived mesenchymal stem cells
Kamata M, Okitsu Y, Fujiwara T, Kanehira M, Nakajima S, Takahashi T, Inoue A, Fukuhara N, Onishi Y, Ishizawa K, Shimizu R, Yamamoto M, Harigae H
Haematologica 2014 Nov;99(11):1686-96
PMID 25150255
A Gata2 intronic enhancer confers its pan-endothelia-specific regulation
Khandekar M, Brandt W, Zhou Y, Dagenais S, Glover TW, Suzuki N, Shimizu R, Yamamoto M, Lim KC, Engel JD
Development 2007 May;134(9):1703-12
PMID 17395646
The GATA2 transcriptional network is requisite for RAS oncogene-driven non-small cell lung cancer
Kumar MS, Hancock DC, Molina-Arcas M, Steckel M, East P, Diefenbacher M, Armenteros-Monterroso E, Lassailly F, Matthews N, Nye E, Stamp G, Behrens A, Downward J
Cell 2012 Apr 27;149(3):642-55
PMID 22541434
Decreased expression of GATA2 promoted proliferation, migration and invasion of HepG2 in vitro and correlated with poor prognosis of hepatocellular carcinoma
Li YW, Wang JX, Yin X, Qiu SJ, Wu H, Liao R, Yi Y, Xiao YS, Zhou J, Zhang BH, Fan J
PLoS One 2014 Jan 30;9(1):e87505
PMID 24498120
Transcription factor GATA-2 is expressed in erythroid, early myeloid, and CD34+ human leukemia-derived cell lines
Nagai T, Harigae H, Ishihara H, Motohashi H, Minegishi N, Tsuchiya S, Hayashi N, Gu L, Andres B, Engel JD, et al
Blood 1994 Aug 15;84(4):1074-84
PMID 7519472
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)
Ostergaard P, Simpson MA, Connell FC, Steward CG, Brice G, Woollard WJ, Dafou D, Kilo T, Smithson S, Lunt P, Murday VA, Hodgson S, Keenan R, Pilz DT, Martinez-Corral I, Makinen T, Mortimer PS, Jeffery S, Trembath RC, Mansour S
Nat Genet 2011 Sep 4;43(10):929-31
PMID 21892158
Decreased mRNA expression of GATA1 and GATA2 is associated with tumor aggressiveness and poor outcome in clear cell renal cell carcinoma
Peters I, Dubrowinskaja N, Tezval H, Kramer MW, von Klot CA, Hennenlotter J, Stenzl A, Scherer R, Kuczyk MA, Serth J
Target Oncol 2015 Jun;10(2):267-75
PMID 25230694
Cloning and characterization of a novel endothelial promoter of the human CYP19 (aromatase P450) gene that is up-regulated in breast cancer tissue
Sebastian S, Takayama K, Shozu M, Bulun SE
Mol Endocrinol 2002 Oct;16(10):2243-54
PMID 12351690
Potentiation of GATA-2 activity through interactions with the promyelocytic leukemia protein (PML) and the t(15;17)-generated PML-retinoic acid receptor alpha oncoprotein
Tsuzuki S, Towatari M, Saito H, Enver T
Mol Cell Biol 2000 Sep;20(17):6276-86
PMID 10938104
GATA2 negatively regulates PTEN by preventing nuclear translocation of androgen receptor and by androgen-independent suppression of PTEN transcription in breast cancer
Wang Y, He X, Ngeow J, Eng C
Hum Mol Genet 2012 Feb 1;21(3):569-76
PMID 22021428
GATA2 promotes glioma progression through EGFR/ERK/Elk-1 pathway
Wang Z, Yuan H, Sun C, Xu L, Chen Y, Zhu Q, Zhao H, Huang Q, Dong J, Lan Q
Med Oncol 2015 Apr;32(4):87
PMID 25707769
GATA-1, -2 and -3 genes expression in bone marrow microenviroment with chronic aplastic anemia
Wu X, Li Y, Zhu K, Wang Z, Chen S, Yang L
Hematology 2007 Aug;12(4):331-5
PMID 17654061
Activity and tissue-specific expression of the transcription factor NF-E1 multigene family
Yamamoto M, Ko LJ, Leonard MW, Beug H, Orkin SH, Engel JD
Genes Dev 1990 Oct;4(10):1650-62
PMID 2249770
A remote GATA2 hematopoietic enhancer drives leukemogenesis in inv(3)(q21;q26) by activating EVI1 expression
Yamazaki H, Suzuki M, Otsuki A, Shimizu R, Bresnick EH, Engel JD, Yamamoto M
Cancer Cell 2014 Apr 14;25(4):415-27
PMID 24703906
Gain-of-function mutation of GATA-2 in acute myeloid transformation of chronic myeloid leukemia
Zhang SJ, Ma LY, Huang QH, Li G, Gu BW, Gao XD, Shi JY, Wang YY, Gao L, Cai X, Ren RB, Zhu J, Chen Z, Chen SJ
Proc Natl Acad Sci U S A 2008 Feb 12;105(6):2076-81
PMID 18250304


This paper should be referenced as such :
Ritsuko Shimizu, Masayuki Yamamoto
GATA2 (GATA binding protein 2)
Atlas Genet Cytogenet Oncol Haematol. 2016;20(8):437-440.
Free journal version : [ pdf ]   [ DOI ]
On line version :
History of this paper:
Viguié, F. GATA2 (GATA binding protein 2). Atlas Genet Cytogenet Oncol Haematol. 2009;13(12):939-940.

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 13 ]
  inv(3)(q21q26)|t(3;3)(q21;q26)|t(3;3)(q26;q21) GATA2/MECOM
inv(3)(q21q26):t(3;3)(q21;q26):t(3;3)(q26;q21) GATA2/MECOM
t(3;7)(q21;p15) GATA2/HOXA10
t(3;7)(q21;p15) GATA2/HOXA9
Acute myeloid leukemia with myelodysplasia related changes
TBL1XR1/MECOM fusion::del(3)(q26.2q26.3) TBL1XR1/MECOM
inv(3)(q21q26) RPN1/MECOM::t(3;3)(q21;q26) RPN1/MECOM::ins(3;3)(q26;q21q26) RPN1/MECOM
Pediatric T-Cell Acute Lymphoblastic Leukemia
t(1;7)(p36;p12) IKZF1/PRDM16
inv(3)(q21q26)|t(3;3)(q21;q26)|t(3;3)(q26;q21) GATA2/MECOM
inv(3)(q21q26):t(3;3)(q21;q26):t(3;3)(q26;q21) GATA2/MECOM
t(3;7)(q21;p15) GATA2/HOXA10
t(3;7)(q21;p15) GATA2/HOXA9

External links

Genomic and cartography
Gene and transcription
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)2624
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Protein Interaction databases
Ontologies - Pathways
Clinical trials, drugs, therapy
canSAR (ICR) (select the gene name)
Other databaseAsian_Ensembl
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Oct 18 17:37:26 CEST 2018

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us