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FLASH GENE
Symbol GATA3 contributors: mct/pgu - updated : 03-02-2016
HGNC name GATA binding protein 3
HGNC id 4172
Corresponding disease
HDR hypoparathyroidism -deafness- renal dysplasia syndrome
Location 10p14      Physical location : 8.096.666 - 8.117.162
Synonym name trans-acting T-cell-specific transcription factor GATA-3
Synonym symbol(s) HDR, MGC2346, MGC5199, MGC5445
DNA
TYPE functioning gene
STRUCTURE 20.50 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
alternative promoter
text structure an alternative promoter expressed selectively in brain
MAPPING cloned Y linked N status confirmed
Map pter - D10S552 - D10S189 - D10S1751 - GATA3 - D10S1779 - D10S226 - D10S1720 - D10S1649 - D10S465 - D10S547 - D10S585 - D10S223 - D10S191 - qter
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 3070 47.9 444 - 2006 16087702
6 splicing 3067 47.7 443 - 2006 16087702
an alternate in-frame splice site in the mid coding region
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticthymus    
Cardiovascularvessel    
Endocrineparathyroid   highly
Hearing/Equilibriumear   highly
Urinarybladder   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
Epithelialbarrier/lining   
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticerythroblast
Blood/Hematopoieticmegakaryocyte
Cardiovascularendothelial cell
not specificadipocyte Homo sapiens
cell lineage T lymphoid lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two zinc finger motifs of a distinctive form CXNCX (17) CNXC
  • N-terminal zinc finger (ZnF1) stabilizing this DNA binding and interacting with other zinc finger proteins
  • two transactivating (TA1 and TA2) domains
  • C-terminal zinc finger (ZnF2) binding DNA
  • HOMOLOGY
    Homologene
    FAMILY
  • 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
  • transcriptional regulator in kidney, adrenal gland, embryonic brain, adult nervous system endocardium
  • T cell antigen regulation inducing Th2 profile expression of T (helper) cells
  • involved in growth control and the maintenance of the differentiated state in epithelial cells
  • involved in regulation of the IL4 gene transcription as a repressor of the promoter activity
  • key regulator of abundant expression of KLK1 in keratinocytes
  • important regulator of the cellular and molecular response of epidermal cells to very low doses of radiation
  • indispensable for ANGPT1-TEK-mediated signaling in large vessel endothelial cells
  • with TBX21 regulate cytokine expression in T-lymphocytes
  • essential for mediating TEK expression and ANGPT1-TEK signaling (important role for GATA3 in endothelial cell biology)
  • essential for central nervous development and fetal liver hematopoiesis
  • GATA2 and GATA3 are negative regulators of adipogenesis
  • its activity significantly contributes to the typical cytokine secretion of and signaling in B cell-derived Hodgkin and Reed/Sternberg (HRS) cells, which presumably plays an essential role in Hodgkin lymphoma pathogenesis
  • HAND2 and GATA3 are transcription factors that induce noradrenergic genes during development and are present in mature sympathetic neurons
  • master regulator of T helper cells, as well as being important for early thymic progenitors and T-cell commitment
  • redundant for maintenance and self-renewal of hematopoietic stem cells
  • BRCA1 and GATA3 corepress FOXC1 to inhibit the pathogenesis of basal-like breast cancers
  • crucial regulator of lymphocyte differentiation
  • inhibits proliferation and induces differentiation of primary keratinocytes, which suggest that it may regulate human interfollicular epidermal renewal
  • GATA3 is important for inhibition of proliferation and induction of differentiation of keratinocytes, but its effect on SPINK5 expression was indirect and GATA3 alone was insufficient for final differentiation of keratinocytes where full SPINK5 expression was observed
  • GATA3 expression is crucial for T cell development and peaks during commitment to the T cell lineage
  • pattern of GATA3 expression sequentially produces B lineage exclusion, T lineage progression, and myeloid-lineage exclusion for commitment
  • activated Treg cells transiently upregulated either TBX21 or GATA3 to maintain T cell homeostasis
  • GATA3 activates transcription of parathyroid hormone (PTH), which is secreted from parathyroid glands and is critical for regulating serum calcium and phosphate homeostasis
  • is a critical regulator of PTH gene expression
  • POU2F1 and GATA3/POU2F2 direct Th2 cytokine gene expression in a cooperative manner
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text development of kidney and structures derived from cephalic neural crest cells, parathyroid development, embryogenesis, morphogenesis
    PATHWAY
    metabolism
    signaling
    a component
  • GATA3-ELF1 plays a role in mediating lineage specificity of TEK
  • ISL1-GATA3 transcription regulatory axis is essential for normal pyloric development
  • INTERACTION
    DNA binding to GATA sequence
    RNA
    small molecule
    protein
  • interacting with IL4
  • bind to regulatory regions within the 5prime-untranslated region of the TEK gene
  • physically interacts and functionally synergizes with ELF1 to mediate TEK expression in endothelial cells
  • ZFPM1, ZFPM2, and CTBP1 and CTBP2 are partners of GATA2, GATA3 proteins in the control of adipocyte proliferation and differentiation
  • negatively regulates the tumor-initiating capacity of mammary luminal progenitor cells and targets the putative tumor suppressor CASP14
  • EOMES interact with the transcription factor GATA3, preventing GATA3 binding to the IL5 promoter
  • transcriptional control by IRX5 is modulated by direct protein-protein interaction with two GATA zinc-finger proteins, GATA3 and TRPS1
  • YY1 cooperates with GATA3 and is required for regulation of the Th2 cytokine locus and Th2 cell differentiation
  • directly activates FGF10 in the early inner ear, and does so through a single binding site
  • TCF3 limit expression of GATA3 to facilitate T lymphocyte lineage commitment
  • EBF1 promotes B cell lineage commitment by directly repressing expression of the T-cell-lineage-requisite GATA3
  • GATA3 plays parallel roles in regulating the development and functions of CD4(+) T cells and IL7R Innate lymphoid cells (ILCs)
  • KDM5B is required for GATA3 recruitment to the FOXA1 promoter to activate FOXA1 expression
  • ITM2A to be a target gene of GATA3, a T cell-specific transcription factor
  • GATA3 interacted with GCM2 and MAFB, two known transcriptional regulators of parathyroid development, and synergistically stimulated the PTH promoter
  • transcription factor GATA3 is responsible for the ER stress-induced SERTAD2 expression in visceral fat
  • cell & other
    REGULATION
    activated by IL4 and autoactivated
    ASSOCIATED DISORDERS
    corresponding disease(s) HDR
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    aberrant expression in pancreatic cancer
    tumoral     --over  
    in ESR1-positive breast tumors
    tumoral     --over  
    during the late secretory phase in the endometrium, suggesting antagonistic function and/or regulation between progesterone receptor and TBX21/GATA3
    Susceptibility to Hodgkin lymphoma
    Variant & Polymorphism SNP SNP increasing the risk of Hodgkin lymphoma
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    miscelleaneousvascular 
    therapies designed to maintain GATA3 activity might help to blunt the deleterious effects of inflammation on the endothelium
    ANIMAL & CELL MODELS
  • GATA3 leads to embryonic lethality due to noradrenaline deficiency of the sympathic nervous system,in mice