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Symbol GATA2 contributors: mct - updated : 24-02-2017
HGNC name GATA binding protein 2
HGNC id 4171
Corresponding disease
DCML dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
IMD21 Immunodeficiency 2
LPMD lymphedema with myelodysplasia
Location 3q21.3      Physical location : 128.198.264 - 128.212.030
Synonym name endothelial transcription factor GATA-2
Synonym symbol(s) MGC2306, NFE1B, FLJ45948, DCML, IMD21, MONOMAC
TYPE functioning gene
STRUCTURE 13.77 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
TRANSCRIPTS type messenger
text 2 types of exon I in the GATA2 gene, exon IG and IS, and GATA2 is transcribed from both IG and IS in hematopoietic cells
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 3383 - 480 - 2000 10873593
6 - 3263 - 466 - 2000 10873593
7 - 3484 - 480 - 2000 10873593
   expressed in (based on citations)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Hearing/Equilibriumear   highly
Reproductivefemale systemplacenta  highly
 male systemprostate  highly
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticbasophil Homo sapiens
Blood/Hematopoieticprogenitor cell Homo sapiens
Cardiovascularendothelial cell
not specificmast cell Homo sapiens
cell lineage hematopoietic progenitor cells
cell lines
physiological period embryo
Text brain
  • zinc finger protein of a distinctive form CXNCX(17)CNXC
  • GATA zinc finger transcription factor family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies
    text associated with a special class of nuclear bodies
    basic FUNCTION
  • regulating endothelin 1 (EDN1) expression
  • maintaining a hematopoietic microenvironment by regulating the differentiation of adipocytes
  • regulates adipocyte differentiation of bone marrow stromal cells
  • regulates myeloid progenitor function through HES1
  • essential for hematopoiesis, and implicated in the regulation of several genes in endothelial cells
  • essential post-mitotic selector gene of the GABAergic neurotransmitter identity
  • regulates a wide set of genes, including cell cycle regulators and megakaryocyte-specific genes
  • contributes to cell cycle progression and the maintenance of megakaryocyte identity of GATA1-deficient cells, including GATA1-expressing fetal megakaryocyte progenitors
  • involved in androgen receptor (AR) signaling
  • with Sp1 play crucial roles in expression of the KIT gene in mast cells
  • GATA2 and GATA3 are negative regulators of adipogenesis
  • required for migration and differentiation of retinorecipient neurons in the superior colliculus (SC)
  • plays a required role in the transition of postmitotic neuronal precursor cells of the retinorecipient layers of the SC into mature neurons
  • importance of the GATA transcription factor in normal myeloid cell regulation
  • transcription factor that plays an essential role in gene regulation during vascular development and hematopoietic differentiation
  • critical role of GATA2 in the development and maintenance of the lymphatics and hematopoietic system
  • GATA2 function is essential for the generation of hematopoietic stem cell (HSC) during the stage of endothelial-to-hematopoietic cell transition
  • regulates differentiation of bone marrow-derived mesenchymal stem cells
  • plays critical roles in hematopoietic stem cell survival and proliferation, granulocyte-monocyte progenitor differentiation, and basophil and mast cell differentiation
  • is a key regulator of this ectodermal signal
  • GATA2 contributes likely to inhibition of canonical Wnt signaling, thereby permitting progenitors to exit the cell cycle and commit to a hematopoietic fate
  • CELLULAR PROCESS nucleotide, transcription, regulation
    text hematopoiesis
    a component
    DNA binding
    small molecule
  • GATA-binding protein required for preproendothelin (EDNx) gene expression
  • binding PITX2
  • reciprocally interacting with POU1F1 for the mediation of signaling gradient-induced determination of pituitary cell types
  • interacting with CREBBP (CREBPP could increase GATA2 transcriptional activity in the dose-dependent manner)
  • ZFPM1, ZFPM2, and CTBP1 and CTBP2 are partners of GATA2, GATA3 proteins in the control of adipocyte proliferation and differentiation
  • Zn-finger region of GATA2 (GATA2-Zf) has an important role in down-regulation of the thyrotropin gene (TSHB) by liganded thyroid hormone receptor (THRB)
  • GATA2 and GATA1 positively and negatively control human IL1RL1 gene transcription, respectively and are involved in IL1RL1 transcription levels in primary basophils maintained in the presence of IL3
  • TAL1 associates with GATA1, GATA2, lim-only protein LMO2, and LDB1 in a multimeric complex to regulate erythroid transcription
  • methylated C bases in the CEBPB promoter relate to expression of the CEBPB gene, and its demethylation is linked with GATA2 protein association
  • GATA2 and LMO2 cooperatively regulate VEGFA-induced angiogenesis and lymphangiogenesis via NRP2
  • MYSM1 directly associates with the GFI1 enhancer element and promotes its transcription through GATA2 and RUNX1 transactivation
  • GATA2 regulates the AQP2 gene expression in collecting duct (CD) cells and contributes to the maintenance of the body water homeostasis
  • GATA2 transactivates the MS4A2 promoter via direct binding
  • GATA2 mediated leptin inhibition of PPARG expression by its binding site in PPARG promoter in Hepatic stellate cell (HSC) and GATA2 promoted HSC activation
  • GATA2 directly promotes expression of both full-length and splice-variant AR, resulting in a strong positive correlation between GATA2 and AR expression in prostate cancer (PC) cell lines
  • STAT5B transcription factor directly bound to the promoter and an intronic region of the GATA2 gene, and the STAT5B-GATA2 pathway is critical for basophil and mast cell differentiation and maintenance
  • GATA2, SP1 and TATA-binding protein (TBP)interacting with the proximal promoter region of MAOA
  • SETD8 is an important regulator of erythroid maturation that works in part through repression of GATA2 expression
  • counteracts the erythroid-specific transcription factor GATA1, to modulate the proliferation and differentiation of hematopoietic cells
  • KDM1A mediates erythroid differentiation, via epigenetic modification of the GATA2 locus
  • FOXA1 is a negative regulator of SEMA3C and SEMA3C is a novel target of AR, GATA2, and FOXA1
  • cell & other
    activated by CCR7 (acetylation of lysine 564 adjacent to the C-terminal binding protein-binding motif in CCR7 is crucial for transcriptional activation of GATA2)
    induced by activated by calcineurin (IGF1 induced) to promote myocyte hypertrophy
    Other regulated by a common signaling pathway in stromal and hematopoietic cells (a single signal may simultaneously suppress the expression of GATA2 in both hematopoietic cells and stromal cells)
    corresponding disease(s) LPMD , DCML , IMD21
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    leads to the suppression of adipocyte differentiation
    constitutional     --low  
    in the bone marrow is a primary molecular mechanism responsible for the development of aplastic anemia
    tumoral       gain of function
    mutations may play a role in acute myeloid transformation in a subset of chronic myeloid leukemia patients
    constitutional     --low  
    in marrow CD34-positive cells in aplastic anemia (which might be responsible for the pathogenesis and development of the clinical features of the disease)
    tumoral     --over  
    associated with biochemical recurrence and distant metastatic progression in prostate carcinoma
    constitutional       loss of function
    in children and adults with severe pulmonary alveolar proteinosis and hematologic disorders
    tumoral     --over  
    at low level confers self-renewal capacity to myeloid progenitors and is relevant to myeloid leukemia development
    Susceptibility to myelodysplastic syndrome (MDS)-acute myeloid leukemia (AML)
    Variant & Polymorphism other
  • missense mutation in the GATA2 transcription factor gene segregating with the multigenerational transmission of MDS-AML
  • Candidate gene
    Therapy target
    a GATA2 small molecule inhibitor suppressed the expression and transcriptional function of both full-length and splice-variant AR and exerted potent anticancer activity against prostate cancer cell lines