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FLASH GENE

Symbol

GATA2

contributors: mct - updated : 24-02-2019

HGNC name	GATA binding protein 2
HGNC id	4171

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

DNA

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

RNA

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

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_032638 6 - 3383 NP_116027 - 480 - 2000 10873593 NM_001145662 6 - 3263 NP_001139134 - 466 - 2000 10873593 NM_001145661 7 - 3484 NP_001139133 - 480 - 2000 10873593

EXPRESSION

Type

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 Hearing/Equilibrium ear       highly Reproductive female system placenta     highly   male system prostate     highly

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic basophil Homo sapiens Blood/Hematopoietic erythroid Blood/Hematopoietic progenitor cell Homo sapiens Cardiovascular endothelial cell not specific mast cell Homo sapiens

cell lineage	hematopoietic progenitor cells
cell lines
fluid/secretion

at STAGE

physiological period

embryo

Text

brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

zinc finger protein of a distinctive form CXNCX(17)CNXC

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	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

PHYSIOLOGICAL PROCESS

development

text	hematopoiesis

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein	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
	FAT4 is a target gene of GATA-binding protein 2 (GATA2), a key transcriptional regulator of lymphatic vascular development and, in particular, lymphatic vessel valve development

cell & other

REGULATION

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)

ASSOCIATED DISORDERS

corresponding disease(s)

LPMD , DCML , IMD21

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
Marker
Therapy target
	System Type Disorder Pubmed cancer reproductive prostate 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

ANIMAL & CELL MODELS