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GATA2 (GATA binding protein 2)

Written2009-01Franck Viguié
Laboratoire de Cytogenetique - Service d'Hématologie Biologique, Hopital Hotel-Dieu - 75181 Paris Cedex 04, France
Updated2015-11Ritsuko Shimizu, Masayuki Yamamoto
Tohoku University Graduate School of Medicine, Sendai, Japan masiyamamoto@med.tohoku.ac.jp

Abstract Review on GATA2, with data on DNA, on the protein encoded, and where the gene is implicated.

Keywords GATA2; DCML deficiency; Emberger syndrome; 3q21q26 syndrome; leukemias; solid tumors.

(Note : for Links provided by Atlas : click)

Identity

Alias_namesGATA-binding protein 2
Alias_symbol (synonym)NFE1B
Other aliasMGC2306
ENSG00000179348
HGNC (Hugo) GATA2
LocusID (NCBI) 2624
Atlas_Id 44160
Location 3q21.3 128,479,427-128,493,185 reverse strand  [Link to chromosome band 3q21]
Location_base_pair Starts at 128479422 and ends at 128488530 bp from pter ( according to hg19-Feb_2009)  [Mapping GATA2.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
GATA2 (3q21.3) / H19 (11p15.5)GATA2 (3q21.3) / HOXA9 (7p15.2)GATA2 (3q21.3) / LAMP2 (Xq24)
PPP1R3B (8p23.1) / GATA2 (3q21.3)

DNA/RNA

Description Genomic DNA 13,759bp, 6 exons ((two untranslated first exons that utilized differentially and five translated exons).
Transcription The distal (IS) exon specifically utilized in hematopoietic and neural cells, while the proximal (IG) exon is utilized ubiquitously, producing 3383-bp and 3484-bp transcripts, respectively. These two variant transcripts encode the same protein. Trancription is oriented from telomere to centromere.

Protein

Description Contains 2 zinc finger domains, ZF1 (aa 294 to 344) and ZF2 (aa 349 to 398).
Expression Strictly regulated and tissue specific. Gene activity depends on several trans regulators and cis-acting regulatory elements scattered in a wide range around the gene. 3.1-kbp upstream of IS exon recapitulates endogenous Gata2 gene expression in yolk sacs and paraaortic splanchnopleura hematopoietic cells in mice. An enhancer in 77-kbp upstream of GATA2 gene and GATA-box-E-box composite element in the fourth intron are important in adult hematopoiesis and implicated in the leukemogenesis in humans (see below). In non-hematopoietic tissues, the element in the fourth intron works as an endothelial specific enhancer, whereas enhancer(s) located between +75- and +113-kbp to the translational initiation site are responsible to the Gata2 expression in caudal periureteric mesenchyme/ urogenital sinus and rostral metanephric mesenchyme in mice, respectively. It has been considered that currently not-identified enhancer(s) for urogenital organs development are located more distal region of Gata2 gene..
Localisation Nuclear.
Function Binds to the consensus sequence 5'-(A/T)GATA(A/G)-3'. Transcriptional activator which is expressed very early in hematopoiesis and plays a role in development and regulation of every early pluripotent hematopoietic precursor, but also of eosinophils, basophils and mast cells. Early stages of erythroid differentiation depends of GATA2, but during maturation GATA2 expression decreases progressively at the benefit of GATA1. GATA2 suppresses differentiation of bone marrow mesenchyme stem cells to adipocytes and sustains the hematopoietic stem cell environment. GATA2 also plays roles in development of neural system, urogenital organs and vascular system.
Homology Member of the GATA family which contains 6 known members; only GATA1, GATA2 and GATA3 are involved in hematopoiesi

Mutations

Germinal Loss-of-function mutations and dominant-negative mutations have been found as a cause of Familial myelodysplastic syndrome (MDS), DCML deficiency and Emberger syndrome, which are in a group of complex syndromes predisposing to leukemia with overlapping clinical features. Mutation in GATA-box-E-box composite element in the fourth intron, which leads to reduction of GATA2 gene expression, has been found in a pedigree of MonoMAC syndrome family.
Somatic Chromosomal rearrangements involving the 77-kbp upstream region of GATA2 gene on 3q21 and MECOM (EVI1) gene on 3q26 are associated with MDS and acute myeloid leukemia (AML). This type of hematopoietic malignancies is referred to as 3q21q26 syndrome. Mutations are found as a cause of acute myeloid transformation of chronic myeloid leukemia (CML).

Implicated in

Note
  
Entity DCML deficiency
Disease Immunodeficiency syndrome associated with loss of dendritic cells, monocytes, B and NK cells, leading to the increasing incidence of mycobacterial, fungal and viral infections. This disease occurs sporadically or in an autosomal dominant inheritance with incomplete penetrance. Patients with DCML deficiency have high incidence of developing hematopoietic malignancies. DCML deficiency with mycobacterium avium complex infection has been described as "monoMAC (monocytopenia with Mycobacterium avium complex) syndrome".
Prognosis Prone to develop MDS and AML.
  
  
Entity Emberger syndrome
Disease Sporadic or autosomal dominant disease with incomplete penetrance, which has a characteristic feature of primary lymphoedema with myelodysplasia. The lymphedema generally confined to the lower limbs and genitals.
Prognosis Prone to develop AML.
  
  
Entity 3q21q26 syndrome
Disease Hematopoietic malignancies, including MDS and AML, caused by a chromosomal aberration between the regions 3q21 and 3q26. The 77-kbp upstream region of GATA2 gene on 3q21 is rearranged proximal to the Evi1 locus on 3q26 by the translocation or inversion. Aberrant expression of EVI1 gene lead by the activity of GATA2 enhancer is appeared to be involved in the pathogenesis and poor prognosis of this disease.
Prognosis Unfavorable prognosis.
Cytogenetics inv(3)(q21q26), t(3;3)(q21;q26).
  
  
Entity Acute promyelocytic leukaemia (APL)
Disease GATA2 may be involved in APL leukemogenesis by physical interaction with the PML component of PML-RARa fusion or with the variant PLZF-RARa fusion, generated respectively by t(15;17) or t(11;17) translocation.
  
  
Entity Myelodysplasic syndrome
Disease GATA2 is expressed in MDS, but not in normal controls; the frequency of expression increases with the severity of dysplasia (100% in RAEB/RAEB-T).
  
  
Entity Myeloid transformation of chronic myelooid leukemia CML
Disease Out of 85 unselected cases of CML blast transformation, 9 showed a GATA2 mutation: 8 with a T-->G substitution at aa359 in ZF2 (L359V) and 1 with a 6 aa deletion (aa 341 to 346) in ZF1. All 9 transformations were myeloid, with a myeloblastic or monoblastic morphology. L359V leads to a gain of function of GATA2 protein.
  
  
Entity Aplastic anemia (AA)
Disease Hypothetical. In knockout mice, GATA2 haploinsufficiency leads to a decrease of hematopoietic stem cells number and efficiency. In human, GATA2 mRNA expression is largely reduced in patients with AA.
  
  
Entity Prostate cancer
Disease High expression of GATA2 is associated with aggressiveness, high metastasis ratio and resistance for therapy in prostate cancer through, in part, the activation of androgen-receptor target genes in ligand-independent pathway.
Prognosis Unfavorable prognosis.
  
  
Entity Non-small cell lung cancer
Disease GATA2 is required for the survival of Ras-mediated NSCLC by controlling IL-1/NF-κB signaling. Knockdown of GATA2 expression lead to a reduction of tumor burden in mouse model of NSCLC, suggesting that GATA2 is a therapeutic target of Ras mutant cancers.
  
  
Entity Glioma
Disease The level of GATA2 expression that might be regulated by EGFR/ERK signaling pathway is correlated with prognosis of glioma patients.
  
  
Entity Neuroblastoma
Disease The expression level of GATA2 is reverse-correlated with aggressiveness, as GATA2 may negatively regulate proliferation of neuroblastoma cells.
  
  
Entity Renal cell carcinoma (RCC)
Disease The expression level of GATA2 is reverse-correlated with aggressiveness, possibility of metastasis, and risk of recurrence in clear cell RCC.
  
  
Entity Hepatocellular carcinoma
Disease The expression level of GATA2 is reverse-correlated with poor prognosis of hepatocellular carcinoma. Knockdown of GATA2 expression enhances the proliferation of a human liver cancer cell line in vitro.
  
  
Entity Colorectal cancer
Disease High level of GATA2 expression is correlated with aggressive feature, high recurrence rate and poor outcome of colorectal cancer.
  
  
Entity Breast cancer
Disease Roles of GATA2 in pathogenesis of breast cancer are contraversial. Reports describing that GATA2 level was increased in breast cancer showed that GATA2 might be related to tumor progression by repressing PTEN activity and/or promoting expression of aromatase gene, whereas another report showed that the expression GATA2 gene was silenced by aberrant hyper-methylation of GATA2 promoter region.
  

Bibliography

DNA methylation changes in murine breast adenocarcinomas allow the identification of candidate genes for human breast carcinogenesis
Acosta D, Suzuki M, Connolly D, Thompson RF, Fazzari MJ, Greally JM, Montagna C
Mamm Genome 2011 Apr;22(3-4):249-59
PMID 21373886
 
A role for GATA-2 in transition to an aggressive phenotype in prostate cancer through modulation of key androgen-regulated genes
Böhm M, Locke WJ, Sutherland RL, Kench JG, Henshall SM
Oncogene 2009 Oct 29;28(43):3847-56
PMID 19684615
 
Defining the functional boundaries of the Gata2 locus by rescue with a linked bacterial artificial chromosome transgene
Brandt W, Khandekar M, Suzuki N, Yamamoto M, Lim KC, Engel JD
J Biol Chem 2008 Apr 4;283(14):8976-83
PMID 18211891
 
GATA-1 and GATA-2 gene expression is related to the severity of dysplasia in myelodysplastic syndrome
Fadilah SA, Cheong SK, Roslan H, Rozie-Hanisa M, Yen GK
Leukemia 2002 Aug;16(8):1563-5
PMID 12145700
 
Decreased expression of transcription factor GATA-2 in haematopoietic stem cells in patients with aplastic anaemia
Fujimaki S, Harigae H, Sugawara T, Takasawa N, Sasaki T, Kaku M
Br J Haematol 2001 Apr;113(1):52-7
PMID 11328281
 
A single oncogenic enhancer rearrangement causes concomitant EVI1 and GATA2 deregulation in leukemia
Gröschel S, Sanders MA, Hoogenboezem R, de Wit E, Bouwman BA, Erpelinck C, van der Velden VH, Havermans M, Avellino R, van Lom K, Rombouts EJ, van Duin M, Döhner K, Beverloo HB, Bradner JE, Döhner H, Löwenberg B, Valk PJ, Bindels EM, de Laat W, Delwel R
Cell 2014 Apr 10;157(2):369-81
PMID 24703711
 
GATA transcription factors and hematological diseases
Harigae H
Tohoku J Exp Med 2006 Sep;210(1):1-9
PMID 16960339
 
GATA factors in human neuroblastoma: distinctive expression patterns in clinical subtypes
Hoene V, Fischer M, Ivanova A, Wallach T, Berthold F, Dame C
Br J Cancer 2009 Oct 20;101(8):1481-9
PMID 19707195
 
Cis-element mutated in GATA2-dependent immunodeficiency governs hematopoiesis and vascular integrity
Johnson KD, Hsu AP, Ryu MJ, Wang J, Gao X, Boyer ME, Liu Y, Lee Y, Calvo KR, Keles S, Zhang J, Holland SM, Bresnick EH
J Clin Invest 2012 Oct;122(10):3692-704
 
GATA2 regulates differentiation of bone marrow-derived mesenchymal stem cells
Kamata M, Okitsu Y, Fujiwara T, Kanehira M, Nakajima S, Takahashi T, Inoue A, Fukuhara N, Onishi Y, Ishizawa K, Shimizu R, Yamamoto M, Harigae H
Haematologica 2014 Nov;99(11):1686-96
PMID 25150255
 
A Gata2 intronic enhancer confers its pan-endothelia-specific regulation
Khandekar M, Brandt W, Zhou Y, Dagenais S, Glover TW, Suzuki N, Shimizu R, Yamamoto M, Lim KC, Engel JD
Development 2007 May;134(9):1703-12
PMID 17395646
 
The GATA2 transcriptional network is requisite for RAS oncogene-driven non-small cell lung cancer
Kumar MS, Hancock DC, Molina-Arcas M, Steckel M, East P, Diefenbacher M, Armenteros-Monterroso E, Lassailly F, Matthews N, Nye E, Stamp G, Behrens A, Downward J
Cell 2012 Apr 27;149(3):642-55
PMID 22541434
 
Decreased expression of GATA2 promoted proliferation, migration and invasion of HepG2 in vitro and correlated with poor prognosis of hepatocellular carcinoma
Li YW, Wang JX, Yin X, Qiu SJ, Wu H, Liao R, Yi Y, Xiao YS, Zhou J, Zhang BH, Fan J
PLoS One 2014 Jan 30;9(1):e87505
PMID 24498120
 
Transcription factor GATA-2 is expressed in erythroid, early myeloid, and CD34+ human leukemia-derived cell lines
Nagai T, Harigae H, Ishihara H, Motohashi H, Minegishi N, Tsuchiya S, Hayashi N, Gu L, Andres B, Engel JD, et al
Blood 1994 Aug 15;84(4):1074-84
PMID 7519472
 
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)
Ostergaard P, Simpson MA, Connell FC, Steward CG, Brice G, Woollard WJ, Dafou D, Kilo T, Smithson S, Lunt P, Murday VA, Hodgson S, Keenan R, Pilz DT, Martinez-Corral I, Makinen T, Mortimer PS, Jeffery S, Trembath RC, Mansour S
Nat Genet 2011 Sep 4;43(10):929-31
PMID 21892158
 
Decreased mRNA expression of GATA1 and GATA2 is associated with tumor aggressiveness and poor outcome in clear cell renal cell carcinoma
Peters I, Dubrowinskaja N, Tezval H, Kramer MW, von Klot CA, Hennenlotter J, Stenzl A, Scherer R, Kuczyk MA, Serth J
Target Oncol 2015 Jun;10(2):267-75
PMID 25230694
 
Cloning and characterization of a novel endothelial promoter of the human CYP19 (aromatase P450) gene that is up-regulated in breast cancer tissue
Sebastian S, Takayama K, Shozu M, Bulun SE
Mol Endocrinol 2002 Oct;16(10):2243-54
PMID 12351690
 
Potentiation of GATA-2 activity through interactions with the promyelocytic leukemia protein (PML) and the t(15;17)-generated PML-retinoic acid receptor alpha oncoprotein
Tsuzuki S, Towatari M, Saito H, Enver T
Mol Cell Biol 2000 Sep;20(17):6276-86
PMID 10938104
 
GATA2 negatively regulates PTEN by preventing nuclear translocation of androgen receptor and by androgen-independent suppression of PTEN transcription in breast cancer
Wang Y, He X, Ngeow J, Eng C
Hum Mol Genet 2012 Feb 1;21(3):569-76
PMID 22021428
 
GATA2 promotes glioma progression through EGFR/ERK/Elk-1 pathway
Wang Z, Yuan H, Sun C, Xu L, Chen Y, Zhu Q, Zhao H, Huang Q, Dong J, Lan Q
Med Oncol 2015 Apr;32(4):87
PMID 25707769
 
GATA-1, -2 and -3 genes expression in bone marrow microenviroment with chronic aplastic anemia
Wu X, Li Y, Zhu K, Wang Z, Chen S, Yang L
Hematology 2007 Aug;12(4):331-5
PMID 17654061
 
Activity and tissue-specific expression of the transcription factor NF-E1 multigene family
Yamamoto M, Ko LJ, Leonard MW, Beug H, Orkin SH, Engel JD
Genes Dev 1990 Oct;4(10):1650-62
PMID 2249770
 
A remote GATA2 hematopoietic enhancer drives leukemogenesis in inv(3)(q21;q26) by activating EVI1 expression
Yamazaki H, Suzuki M, Otsuki A, Shimizu R, Bresnick EH, Engel JD, Yamamoto M
Cancer Cell 2014 Apr 14;25(4):415-27
PMID 24703906
 
Gain-of-function mutation of GATA-2 in acute myeloid transformation of chronic myeloid leukemia
Zhang SJ, Ma LY, Huang QH, Li G, Gu BW, Gao XD, Shi JY, Wang YY, Gao L, Cai X, Ren RB, Zhu J, Chen Z, Chen SJ
Proc Natl Acad Sci U S A 2008 Feb 12;105(6):2076-81
PMID 18250304
 

Citation

This paper should be referenced as such :
Shimizu R, Yamamoto M
GATA2 (GATA binding protein 2);
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Genes/GATA2ID44160ch3q21.html
History of this paper:
Viguié, F. GATA2 (GATA binding protein 2). Atlas Genet Cytogenet Oncol Haematol. 2009;13(12):939-940.
http://documents.irevues.inist.fr/bitstream/handle/2042/44636/01-2009-GATA2ID44160ch3q21.pdf


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 3 ]
  Acute myeloid leukemia with myelodysplasia related changes
inv(3)(q21q26) RPN1/MECOM::t(3;3)(q21;q26) RPN1/MECOM::ins(3;3)(q26;q21q26) RPN1/MECOM
t(1;7)(p36;p12) IKZF1/PRDM16


External links

Nomenclature
HGNC (Hugo)GATA2   4171
LRG (Locus Reference Genomic)LRG_295
Cards
AtlasGATA2ID44160ch3q21
Entrez_Gene (NCBI)GATA2  2624  GATA binding protein 2
AliasesDCML; IMD21; MONOMAC; NFE1B
GeneCards (Weizmann)GATA2
Ensembl hg19 (Hinxton)ENSG00000179348 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000179348 [Gene_View]  chr3:128479422-128488530 [Contig_View]  GATA2 [Vega]
ICGC DataPortalENSG00000179348
TCGA cBioPortalGATA2
AceView (NCBI)GATA2
Genatlas (Paris)GATA2
WikiGenes2624
SOURCE (Princeton)GATA2
Genetics Home Reference (NIH)GATA2
Genomic and cartography
GoldenPath hg38 (UCSC)GATA2  -     chr3:128479422-128488530 -  3q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GATA2  -     3q21.3   [Description]    (hg19-Feb_2009)
EnsemblGATA2 - 3q21.3 [CytoView hg19]  GATA2 - 3q21.3 [CytoView hg38]
Mapping of homologs : NCBIGATA2 [Mapview hg19]  GATA2 [Mapview hg38]
OMIM137295   614038   614172   614286   
Gene and transcription
Genbank (Entrez)AI524325 AK127845 AK314826 BC002557 BC015577
RefSeq transcript (Entrez)NM_001145661 NM_001145662 NM_032638
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GATA2
Cluster EST : UnigeneHs.367725 [ NCBI ]
CGAP (NCI)Hs.367725
Alternative Splicing GalleryENSG00000179348
Gene ExpressionGATA2 [ NCBI-GEO ]   GATA2 [ EBI - ARRAY_EXPRESS ]   GATA2 [ SEEK ]   GATA2 [ MEM ]
Gene Expression Viewer (FireBrowse)GATA2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2624
GTEX Portal (Tissue expression)GATA2
Human Protein AtlasENSG00000179348-GATA2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP23769   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP23769  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP23769
Splice isoforms : SwissVarP23769
PhosPhoSitePlusP23769
Domaine pattern : Prosite (Expaxy)GATA_ZN_FINGER_1 (PS00344)    GATA_ZN_FINGER_2 (PS50114)   
Domains : Interpro (EBI)GATA-2    TF_GATA-2/3    Znf_GATA    Znf_NHR/GATA   
Domain families : Pfam (Sanger)GATA (PF00320)   
Domain families : Pfam (NCBI)pfam00320   
Domain families : Smart (EMBL)ZnF_GATA (SM00401)  
Conserved Domain (NCBI)GATA2
DMDM Disease mutations2624
Blocks (Seattle)GATA2
SuperfamilyP23769
Human Protein Atlas [tissue]ENSG00000179348-GATA2 [tissue]
Peptide AtlasP23769
HPRD00673
IPIIPI00012900   IPI00794907   IPI00944983   IPI00947465   
Protein Interaction databases
DIP (DOE-UCLA)P23769
IntAct (EBI)P23769
FunCoupENSG00000179348
BioGRIDGATA2
STRING (EMBL)GATA2
ZODIACGATA2
Ontologies - Pathways
QuickGOP23769
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II core promoter sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  RNA polymerase II transcription factor binding  enhancer sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  urogenital system development  cell fate determination  neuron migration  embryonic placenta development  chromatin binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  transcription factor complex  transcription, DNA-templated  transcription from RNA polymerase II promoter  phagocytosis  positive regulation of cytosolic calcium ion concentration  blood coagulation  transcription factor binding  zinc ion binding  regulation of primitive erythrocyte differentiation  ventral spinal cord interneuron differentiation  cell differentiation in hindbrain  commitment of neuronal cell to specific neuron type in forebrain  central nervous system neuron development  pituitary gland development  response to lipid  somatic stem cell population maintenance  regulation of histone acetylation  eosinophil fate commitment  inner ear morphogenesis  positive regulation of mast cell degranulation  negative regulation of fat cell differentiation  positive regulation of erythrocyte differentiation  negative regulation of macrophage differentiation  positive regulation of megakaryocyte differentiation  positive regulation of neuron differentiation  negative regulation of Notch signaling pathway  positive regulation of angiogenesis  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  cell maturation  homeostasis of number of cells within a tissue  positive regulation of phagocytosis  positive regulation of phagocytosis, engulfment  definitive hemopoiesis  semicircular canal development  negative regulation of fat cell proliferation  C2H2 zinc finger domain binding  cochlea development  GABAergic neuron differentiation  negative regulation of neural precursor cell proliferation  regulation of forebrain neuron differentiation  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II core promoter sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  RNA polymerase II transcription factor binding  enhancer sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  urogenital system development  cell fate determination  neuron migration  embryonic placenta development  chromatin binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  transcription factor complex  transcription, DNA-templated  transcription from RNA polymerase II promoter  phagocytosis  positive regulation of cytosolic calcium ion concentration  blood coagulation  transcription factor binding  zinc ion binding  regulation of primitive erythrocyte differentiation  ventral spinal cord interneuron differentiation  cell differentiation in hindbrain  commitment of neuronal cell to specific neuron type in forebrain  central nervous system neuron development  pituitary gland development  response to lipid  somatic stem cell population maintenance  regulation of histone acetylation  eosinophil fate commitment  inner ear morphogenesis  positive regulation of mast cell degranulation  negative regulation of fat cell differentiation  positive regulation of erythrocyte differentiation  negative regulation of macrophage differentiation  positive regulation of megakaryocyte differentiation  positive regulation of neuron differentiation  negative regulation of Notch signaling pathway  positive regulation of angiogenesis  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  cell maturation  homeostasis of number of cells within a tissue  positive regulation of phagocytosis  positive regulation of phagocytosis, engulfment  definitive hemopoiesis  semicircular canal development  negative regulation of fat cell proliferation  C2H2 zinc finger domain binding  cochlea development  GABAergic neuron differentiation  negative regulation of neural precursor cell proliferation  regulation of forebrain neuron differentiation  
REACTOMEP23769 [protein]
REACTOME PathwaysR-HSA-983231 [pathway]   
NDEx NetworkGATA2
Atlas of Cancer Signalling NetworkGATA2
Wikipedia pathwaysGATA2
Orthology - Evolution
OrthoDB2624
GeneTree (enSembl)ENSG00000179348
Phylogenetic Trees/Animal Genes : TreeFamGATA2
HOVERGENP23769
HOGENOMP23769
Homologs : HomoloGeneGATA2
Homology/Alignments : Family Browser (UCSC)GATA2
Gene fusions - Rearrangements
Fusion : MitelmanGATA2/HOXA9 [3q21.3/7p15.2]  
Tumor Fusion PortalGATA2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGATA2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GATA2
dbVarGATA2
ClinVarGATA2
1000_GenomesGATA2 
Exome Variant ServerGATA2
ExAC (Exome Aggregation Consortium)ENSG00000179348
GNOMAD BrowserENSG00000179348
Genetic variants : HAPMAP2624
Genomic Variants (DGV)GATA2 [DGVbeta]
DECIPHERGATA2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGATA2 
Mutations
ICGC Data PortalGATA2 
TCGA Data PortalGATA2 
Broad Tumor PortalGATA2
OASIS PortalGATA2 [ Somatic mutations - Copy number]
Cancer Gene: CensusGATA2 
Somatic Mutations in Cancer : COSMICGATA2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGATA2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
LOVD (Leiden Open Variation Database)Vascular Anomaly and Lymphedema Mutation Database
BioMutasearch GATA2
DgiDB (Drug Gene Interaction Database)GATA2
DoCM (Curated mutations)GATA2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GATA2 (select a term)
intoGenGATA2
NCG5 (London)GATA2
Cancer3DGATA2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM137295    614038    614172    614286   
Orphanet2883    19131    21659    10703   
DisGeNETGATA2
MedgenGATA2
Genetic Testing Registry GATA2
NextProtP23769 [Medical]
TSGene2624
GENETestsGATA2
Target ValidationGATA2
Huge Navigator GATA2 [HugePedia]
snp3D : Map Gene to Disease2624
BioCentury BCIQGATA2
ClinGenGATA2 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2624
Chemical/Pharm GKB GenePA28585
Clinical trialGATA2
Miscellaneous
canSAR (ICR)GATA2 (select the gene name)
Other databaseAsian_Ensembl
Probes
Litterature
PubMed171 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGATA2
EVEXGATA2
GoPubMedGATA2
iHOPGATA2
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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