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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
Physical map
DKFZp564A176 3q21.3 hypothetical protein DKFZp564A176 LOC285311 3q21.3 hypothetical gene supported by AK097460 TPRA40 3q21.2 seven transmembrane domain orphan receptor MCM2 3q21 MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae) PODLX2 15 endoglycan ABTB1 3q21 ankyrin repeat and BTB (POZ) domain containing 1 MGLL 3q21.3 monoglyceride lipase LOC166348 3q21.3 similar to RIKEN cDNA 4833415F11 SEC61A1 3q21.3 similar to RIKEN cDNA 4833415F11 RUVBL1 3q21 RuvB-like 1 (E. coli) SELB 3q21.3 elongation factor for selenoprotein translation LOC389146 3 LOC389146 DNAJB8 3q21.3 DnaJ (Hsp40) homolog, subfamily B, member 8 GATA2 3q21 GATA binding protein 2 LOC391572 3 similar to Transmembrane protein Tmp21 precursor (21 kDa Transmembrane trafficking protein) (p24delta) (S31III125) (S31I125) (Tmp-21-I) GR6 3q21 similar to Transmembrane protein Tmp21 precursor (21 kDa Transmembrane trafficking protein) (p24delta) (S31III125) (S31I125) (Tmp-21-I) FLJ40473 3q21.3 hypothetical protein FLJ40473 RPN1 3q21.3-q25.2 ribophorin I RAB7 3q21 RAB7, member RAS oncogene family LOC391573 3 similar to mKIAA1860 protein LOC391574 3 similar to MAP/microtubule affinity-regulating kinase 4; MAP/microtubule affinity-regulating kinase 4L; MARK4 serine/threonine protein kinase LOC389147 3 similar to WD repeat domain 10 isoform 3 LOC391575 3 similar to Fat-specific protein FSP27 homolog ACAD9 3q21.3 acyl-Coenzyme A dehydrogenase family, member 9 KIAA1257 3q21.3 KIAA1257 protein FLJ12057 3q21.3 hypothetical protein FLJ12057 GP9 3q21 glycoprotein IX (platelet) LOC339122 KIAA1160 3q21.3 KIAA1160 protein ZNF9 3p13.3-q24 zinc finger protein 9 (a cellular retroviral nucleic acid binding protein) COPG 3q21.3 coatomer protein complex, subunit gamma DC12 3q21.3 DC12 protein H1FX 3q21.3 H1 histone family, member X LOC90288 3q21.3 hypothetical protein LOC90288 MBD4 3q21-q22 methyl-CpG binding domain protein 4 WDR10 3q21 WD repeat domain 10 RHO 3q21.3-q24 rhodopsin (opsin 2, rod pigment) (retinitis pigmentosa 4, autosomal dominant) H1FOO 3q21.3 H1 histone family, member O, oocyte-specific PLXND1 3q21.3 plexin D1 KIAA0779 3q21.3 plexin D1 TRH 3q13.3-q21 thyrotropin-releasing hormone LOC391576 3 hypothetical gene supported by AK122996
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
  • 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