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FLASH GENE

Symbol

GATA3

contributors: mct/pgu - updated : 03-02-2016

HGNC name	GATA binding protein 3
HGNC id	4172

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001002295 6 - 3070 NP_001002295 47.9 444 - 2006 16087702 NM_002051 6 splicing 3067 NP_002042 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)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol blood / hematopoietic thymus         Cardiovascular vessel         Endocrine parathyroid       highly Hearing/Equilibrium ear       highly Urinary bladder       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Epithelial barrier/lining

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic erythroblast Blood/Hematopoietic megakaryocyte Cardiovascular endothelial cell not specific adipocyte 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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	System Type Disorder Pubmed miscelleaneous vascular   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