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GATA2 Gene

protein-coding   GIFtS: 64
GCID: GC03M128198

GATA Binding Protein 2

(Previous name: GATA-binding protein 2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
GATA Binding Protein 21 2     NFE1B2
GATA-Binding Protein 21 3     Endothelial Transcription Factor GATA-22
DCML2 5     IMD215
MONOMAC2 5     

External Ids:    HGNC: 41711   Entrez Gene: 26242   Ensembl: ENSG000001793487   OMIM: 1372955   UniProtKB: P237693   

Export aliases for GATA2 gene to outside databases

Previous GC identifers: GC03U990039 GC03M129481 GC03M129519 GC03M129680 GC03M125582


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GATA2 Gene:
This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the
consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an
essential role in regulating transcription of genes involved in the development and proliferation of
hematopoietic and endocrine cell lineages. Alternative splicing results in multiple transcript variants.(provided
by RefSeq, Mar 2009)

GeneCards Summary for GATA2 Gene:
GATA2 (GATA binding protein 2) is a protein-coding gene. Diseases associated with GATA2 include acute myeloid leukemia, susceptibility, gata2-related, and t lymphocyte deficiency. GO annotations related to this gene include transcription factor binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is GATA6.

UniProtKB/Swiss-Prot: GATA2_HUMAN, P23769
Function: Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells. Binds to
the consensus sequence 5'-AGATAG-3'

Gene Wiki entry for GATA2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the GATA2 gene promoter:
         Sp1   p300   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): GATA2 promoter sequence
   Search Chromatin IP Primers for GATA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GATA2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q21.3   Ensembl cytogenetic band:  3q21.3   HGNC cytogenetic band: 3q21

GATA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GATA2 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M128198:  view genomic region     (about GC identifiers)

Start:
128,198,265 bp from pter      End:
128,212,030 bp from pter
Size:
13,766 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GATA2_HUMAN, P23769 (See protein sequence)
Recommended Name: Endothelial transcription factor GATA-2  
Size: 480 amino acids; 50500 Da
Subunit: Interacts with BRD3 (By similarity)
Sequence caution: Sequence=AAA35869.1; Type=Miscellaneous discrepancy; Note=Several sequencing errors;
Secondary accessions: D3DNB3 Q53YE0 Q96BH0 Q96BH8 Q9BUJ6
Alternative splicing: 2 isoforms:  P23769-1   P23769-2   

Explore the universe of human proteins at neXtProt for GATA2: NX_P23769

Explore proteomics data for GATA2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GATA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001139133.1  NP_001139134.1  NP_116027.2  

    ENSEMBL proteins: 
     ENSP00000345681   ENSP00000400259   ENSP00000417074   ENSP00000418132   ENSP00000419532  
    Reactome Protein details: P23769

    GATA2 Human Recombinant Protein Products:

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    Novus Biologicals GATA2 Proteins
    Novus Biologicals GATA2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GATA2

    GATA2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for GATA2 (GATA-2)
    Cell Signaling Technology (CST) Antibodies for GATA2 
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    Abcam antibodies for GATA2
    Cloud-Clone Corp. Antibodies for GATA2
    ThermoFisher Antibody for GATA2
    LSBio Antibodies in human, mouse, rat for GATA2

    GATA2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for GATA2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for GATA2
    Cloud-Clone Corp. CLIAs for GATA2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GATAD: GATA zinc finger domain containing

    3 InterPro protein domains:
     IPR016374 TF_GATA-1/2/3
     IPR000679 Znf_GATA
     IPR013088 Znf_NHR/GATA

    Graphical View of Domain Structure for InterPro Entry P23769

    ProtoNet protein and cluster: P23769

    1 Blocks protein domain: IPB000679 Zn-finger

    UniProtKB/Swiss-Prot: GATA2_HUMAN, P23769
    Similarity: Contains 2 GATA-type zinc fingers


    GATA2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GATA2_HUMAN, P23769
    Function: Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells. Binds to
    the consensus sequence 5'-AGATAG-3'

         Genatlas biochemistry entry for GATA2:
    endothelial cell transcription factor,GATA sequence binding protein,expressed in immature RBC,mast
    cell,megakaryocyte,hematopoietic progenitor cell,endothelial cell,embryonic brain,associated with a special class
    of nuclear bodies. Regulating endothelin 1 (EDN1) expression. Activated by calcineurin (IGF1 induced) to promote
    myocyte hypertrophy

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000980RNA polymerase II distal enhancer sequence-specific DNA binding IEA--
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA--
    GO:0001158enhancer sequence-specific DNA binding IDA19323994
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IDA19242469
         
    GATA2 for ontologies           About GeneDecksing


    Phenotypes:
         14 MGI mutant phenotypes (inferred from 11 alleles(MGI details for Gata2):
     cardiovascular system  cellular  embryogenesis  endocrine/exocrine gland  growth/size/body 
     hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  liver/biliary system  mortality/aging 
     nervous system  normal  renal/urinary system  reproductive system 

    GATA2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for GATA2: Gata2tm1.1Sac Gata2tm1Sho

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GATA2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GATA2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GATA2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GATA2

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  NCCTTATCTC 

    miRNA
    Products:
        
    miRTarBase miRNAs that target GATA2:
    hsa-mir-26b-5p (MIRT029763)

    Block miRNA regulation of human, mouse, rat GATA2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GATA2 (see all 47):
    hsa-miR-429 hsa-miR-513a-5p hsa-miR-25 hsa-miR-128 hsa-let-7a-2* hsa-miR-219-5p hsa-miR-548l hsa-miR-508-3p
    SwitchGear 3'UTR luciferase reporter plasmidGATA2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GATA2
    Predesigned siRNA for gene silencing in human, mouse, rat GATA2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GATA2

    Clone
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    OriGene clones in human, mouse for GATA2 (see all 19)
    OriGene ORF clones in mouse, rat for GATA2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): GATA2 (NM_001145662)
    Sino Biological Human cDNA Clone for GATA2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GATA2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GATA2

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for GATA2
    Browse ESI BIO Cell Lines and PureStem Progenitors for GATA2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GATA2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GATA2_HUMAN, P23769: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0043234protein complex IEA--

    GATA2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GATA2 About   (see all 13)  
    See pathways by source

    SuperPathContained pathways About
    1DREAM Repression and Dynorphin Expression
    BMP Pathway0.44
    2Hemostasis
    Hemostasis0.43
    3G-AlphaQ Signaling
    Thrombin Signaling0.40
    4Signaling events mediated by HDAC Class II
    Signaling events mediated by HDAC Class II
    5Signaling events mediated by HDAC Class I
    Signaling events mediated by HDAC Class I

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GATA2
        BMP Pathway
    Thrombin Signaling

    2 Cell Signaling Technology (CST) Pathways for GATA2
        Lymphocyte Signaling
    Glucose / Energy Metabolism

    Selected BioSystems Pathways for GATA2 (see all 7)
        Adipogenesis
    SIDS Susceptibility Pathways
    IL-3 Signaling Pathway
    Regulation of Androgen receptor activity
    Signaling events mediated by HDAC Class I


    1 Reactome Pathway for GATA2
        Factors involved in megakaryocyte development and platelet production



    GATA2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GATA2: 
              Cell Lineage Identification in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat
              Transcription Factors in human mouse rat
              Hematopoiesis in human mouse rat
              Adipogenesis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GATA2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GATA2 (P237691, 3 ENSP000003456814) via UniProtKB, MINT, STRING, and/or I2D (see all 83)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD4Q134851, 3, ENSP000003415514EBI-2806671,EBI-347263 I2D: score=1 STRING: ENSP00000341551
    SPI1P179473, ENSP000002271634I2D: score=4 STRING: ENSP00000227163
    JUNP054123, ENSP000003602664I2D: score=3 STRING: ENSP00000360266
    PMLP295903, ENSP000002680584I2D: score=3 STRING: ENSP00000268058
    MAPK1P284823, ENSP000002158324I2D: score=2 STRING: ENSP00000215832
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 34):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0001655urogenital system development IEA--
    GO:0001709cell fate determination IEA--
    GO:0001892embryonic placenta development IEA--
    GO:0006351transcription, DNA-templated IDA16153155

    GATA2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GATA2

    Selected Novoseek inferred chemical compound relationships for GATA2 gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 40.7 18 11964310 (4), 7823932 (2), 10938104 (1), 10411939 (1) (see all 11)
    methylcellulose 38.4 1 8643572 (1)
    benzidine 37.7 2 11146164 (1)
    retinoic acid 27.6 11 15254248 (4), 8276858 (3), 1370462 (1), 8843397 (1)
    butyrate 22.5 5 19279013 (2), 14757314 (1), 8507862 (1), 14769215 (1)
    12-o-tetradecanoylphorbol 13-acetate 14.3 5 8562972 (2), 9419420 (1)
    oligonucleotide 7.37 1 7541039 (1)
    estrogen 4.67 4 16133148 (1), 8562972 (1), 8504932 (1), 15494394 (1)
    hydroxyurea 4.2 5 12548806 (3), 11787775 (1)
    leucine 0 2 15632071 (1), 16931285 (1)



    GATA2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GATA2 gene (3 alternative transcripts): 
    NM_001145661.1  NM_001145662.1  NM_032638.4  

    Unigene Cluster for GATA2:

    GATA binding protein 2
    Hs.367725  [show with all ESTs]
    Unigene Representative Sequence: NM_001145661
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000341105(uc003ekn.3 uc003ekm.3 uc003eko.2) ENST00000489987
    ENST00000430265 ENST00000487848 ENST00000492608 ENST00000498200
    miRNA
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    Block miRNA regulation of human, mouse, rat GATA2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GATA2 (see all 47):
    hsa-miR-429 hsa-miR-513a-5p hsa-miR-25 hsa-miR-128 hsa-let-7a-2* hsa-miR-219-5p hsa-miR-548l hsa-miR-508-3p
    SwitchGear 3'UTR luciferase reporter plasmidGATA2 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 3): GATA2 (NM_001145662)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GATA2
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for GATA2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GATA2
      QuantiTect SYBR Green Assays in human, mouse, rat GATA2
      QuantiFast Probe-based Assays in human, mouse, rat GATA2

    Additional mRNA sequence: 

    AK314826.1 BC002557.2 BC015577.2 BC015613.2 BC018988.2 BC051272.1 BC051342.1 BT006671.1 
    M68891.1 M77810.1 

    13 DOTS entries:

    DT.308983  DT.100824493  DT.92330285  DT.100671217  DT.95083558  DT.100658371  DT.100824502  DT.120890052 
    DT.100824492  DT.120890073  DT.120890094  DT.92413074  DT.120890059 

    Selected AceView cDNA sequences (see all 180):

    BF433125 BX394055 NM_032638 BE348488 AI202702 BE671935 BQ022387 BE670978 
    BQ026392 BI819533 AI954657 AI962483 BE858858 AI375813 AI867420 BC015613 
    CD672746 BC002557 CF144613 AI216622 AI658737 BI494388 BI195665 CR621712 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GATA2 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b
    SP1:              -     -     -                                   -                 -               
    SP2:                                                              -     -           -               
    SP3:                    -     -                                                                     
    SP4:                                                                                                
    SP5:                                                                                -               


    ECgene alternative splicing isoforms for GATA2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    GATA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACAGTTGTT
    GATA2 Expression
    About this image


    GATA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 23) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 11 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             Umbilical cord blood-derived hematopoietic stem cells (family)
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Thalamus
             GABA neuron-like cells
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 2 entries
             Umbilical cord blood-derived hematopoietic stem cells (family)
     
     Placenta (Extraembryonic Tissues)    fully expand to see all 4 entries
             Primordial Germ Cells Allantois
             Placenta-derived mesenchymal stem cells (family)
             Syncytiotrophoblast-like cells
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Telencephalon
    GATA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GATA2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.367725

    UniProtKB/Swiss-Prot: GATA2_HUMAN, P23769
    Tissue specificity: Endothelial cells

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GATA2: 
              Cell Lineage Identification in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat
              Transcription Factors in human mouse rat
              Hematopoiesis in human mouse rat
              Adipogenesis in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for GATA2
    OriGene qSTAR qPCR primer pairs in human, mouse for GATA2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GATA2
    QuantiTect SYBR Green Assays in human, mouse, rat GATA2
    QuantiFast Probe-based Assays in human, mouse, rat GATA2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GATA2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for GATA2 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gata21 , 5 GATA binding protein 21, 5 90.07(n)1
    97.92(a)1
      6 (39.20 cM)5
    144611  NM_008090.51  NP_032116.41 
     881986645 
    chicken
    (Gallus gallus)
    Aves GATA21 GATA binding protein 2 78.76(n)
    87.77(a)
      416018  NM_001003797.1  NP_001003797.1 
    lizard
    (Anolis carolinensis)
    Reptilia GATA26
    GATA binding protein 2
    74(a)
    1 ↔ 1
    2(164958505-164980000)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.7922 X.laevis GATA-binding protein (XGATA-2) gene, complete more 77.31(n)    M76564.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gata22 GATA-binding protein 2 78.6(n)   30480  BC053131.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta grn3 histogenesis RNA polymerase II
    transcription factor
    84(a)
    (best of 2)
      3 84F1   --
    worm
    (Caenorhabditis elegans)
    Secernentea elt-13 elongation factor ELT 67(a)   IV(9615443-9619838)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DAL806
    GAT16
    (see all 4)
    Negative regulator of genes in multiple nitrogen d...
    Transcriptional activator of genes involved in nit...
    (see all 4)
    17(a)
    15(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    XI(506898-507707) YKR034W
    VI(95966-97498) YFL021W


    ENSEMBL Gene Tree for GATA2 (if available)
    TreeFam Gene Tree for GATA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GATA2 gene
    GATA62  GATA42  GATA32  GATA12  GATA52  TRPS12  
    5 SIMAP similar genes for GATA2 using alignment to 2 protein entries:     GATA2_HUMAN (see all proteins):
    GATA3    GATA4    GATA5    GATA1    GATA6

    GATA2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GATA2 (see all 394)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0666454
    Lymphedema, primary, with myelodysplasia (LMPM)4--see VAR_0666452 C R mis40--------
    VAR_0664054
    Dendritic cell monocyte lymphocyte B and natural killer lymphocyte deficiency (DCML)4--see VAR_0664052 P L mis40--------
    VAR_0666444
    Lymphedema, primary, with myelodysplasia (LMPM)4--see VAR_0666442 R P mis40--------
    VAR_0664074
    Dendritic cell monocyte lymphocyte B and natural killer lymphocyte deficiency (DCML)4--see VAR_0664072 R W mis40--------
    VAR_0664064
    Myelodysplastic syndrome (MDS)4--see VAR_0664062 T M mis40--------
    rs1449414201,2
    C--125597567(+) TATTT-/TTGTTGTT 1 -- cds10--------
    rs781751511,2
    C,F--128180631(+) TCACTG/CATCAA 3 -- ds50012Minor allele frequency- C:0.08NA 122
    rs622709421,2
    C--128180632(+) CACTGA/GTCAAA 3 -- ds50012Minor allele frequency- G:0.02NA 122
    rs1920963211,2
    --128180672(+) ACAGAC/TACTGC 3 -- ds50010--------
    rs738622051,2
    C--128180769(+) GCAAAT/CGGAGA 3 -- ds50012Minor allele frequency- C:0.04WA 120

    HapMap Linkage Disequilibrium report for GATA2 (128198265 - 128212030 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for GATA2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2657669CNV Deletion23128226
    nsv508241CNV Loss20534489
    nsv516926CNV Loss19592680
    dgv5250n71CNV Loss21882294
    nsv508240CNV Loss20534489
    nsv877464CNV Loss21882294
    nsv10318CNV Gain18304495
    dgv1493e1CNV Complex17122850
    dgv1494e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): GATA2
    2 Site Specific Mutation Identification with PCR Assays for GATA2:
    Cosmic IdAA Change
    41611p.L359V
    87004p.R362Q
    3 Site Specific Cancer Mutation PCR Panels containing GATA2:
    Hematopoietic Neoplasms
    Lung and Colon Cancers (Expanded Panel) 384HT
    Cancer Comprehensive Panel 384HT
    SeqTarget long-range PCR primers for resequencing GATA2
    DNA2.0 Custom Variant and Variant Library Synthesis for GATA2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 137295   
    OMIM disorders: 614172  614038  614286  601626  
    UniProtKB/Swiss-Prot: GATA2_HUMAN, P23769
  • Dendritic cell monocyte lymphocyte B and natural killer lymphocyte deficiency (DCML) [MIM:614172]: An
    immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer
    lymphocytes, and circulating and tissue dendritic cells, with little or no effect on T cell numbers. Clinical
    features of DCML include susceptibility to disseminated non-tuberculous mycobacterial infections, papillomavirus
    infections, opportunistic fungal infections, and pulmonary alveolar proteinosis. Bone marrow hypocellularity and
    dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most patients, as are karyotypic
    abnormalities, including monosomy 7 and trisomy 8. This syndrome links susceptibility to mycobacterial, viral,
    and fungal infections with malignancy and can be transmitted in an autosomal dominant pattern. Note=The disease
    is caused by mutations affecting the gene represented in this entry
  • Lymphedema, primary, with myelodysplasia (LMPM) [MIM:614038]: A chronic disabling condition characterized
    by swelling of the extremities due to altered lymphatic flow, associated with myelodysplasia. Patients with
    lymphedema suffer from recurrent local infections, and physical impairment. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Myelodysplastic syndrome (MDS) [MIM:614286]: A heterogeneous group of closely related clonal
    hematopoietic disorders. All are characterized by a hypercellular or hypocellular bone marrow with impaired
    morphology and maturation, dysplasia of the myeloid, megakaryocytic and/or erythroid lineages, and peripheral
    blood cytopenias resulting from ineffective blood cell production. Included diseases are: refractory anemia (RA),
    refractory anemia with ringed sideroblasts (RARS), refractory anemia with excess blasts (RAEB), refractory
    cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS); chronic myelomonocytic leukemia (CMML)
    is a myelodysplastic/myeloproliferative disease. MDS is considered a premalignant condition in a subgroup of
    patients that often progresses to acute myeloid leukemia (AML). Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • Selected diseases for GATA2 (see all 46):    
    About MalaCards
    acute myeloid leukemia, susceptibility, gata2-related    t lymphocyte deficiency    myelodysplastic syndrome, susceptibility, gata2-related    dendritic cell, monocyte, b lymphocyte, and natural killer lymphocyte deficiency
    emberger syndrome    lymphedema, primary, with myelodysplasia    myelodysplastic syndromes    acute myeloid leukemia
    lymphedema    chronic myelomonocytic leukemia    aplastic anemia    pulmonary alveolar proteinosis
    acute leukemia    myeloid leukemia    chronic myeloid leukemia    pituitary adenoma
    down syndrome    t cell deficiency    t-cell leukemia    labyrinthitis

    1 disease from the University of Copenhagen DISEASES database for GATA2:
    Leukemia

    GATA2 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for GATA2 gene (see all 20)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    blast crisis 55 3 7643449 (1), 7579412 (1), 18550858 (1)
    myeloid leukemia 49.4 2 7519472 (1), 10873593 (1)
    acute leukemia 44.3 10 8035609 (2), 7780155 (2), 7808006 (1), 14701703 (1) (see all 8)
    myeloid leukemia chronic 40.3 5 7643449 (1), 11877047 (1), 18250304 (1), 7579412 (1) (see all 5)
    leukemia 37.4 16 15748439 (5), 11877047 (3), 7579412 (2), 7643449 (1) (see all 6)
    lymphoblastic leukemia acute 35.9 3 7643449 (1), 11877047 (1), 7579412 (1)
    leukemia promyelocytic acute 29.4 2 11877047 (1), 11964310 (1)
    anemia aplastic 25.9 9 11328281 (4), 16960339 (2), 19772889 (1), 17654061 (1)
    pituitary adenoma 23.5 3 11796836 (3)
    t-all 18.8 1 15369140 (1)

    Genetic Association Database (GAD): GATA2
    Human Genome Epidemiology (HuGE) Navigator: GATA2 (14 documents)

    Export disorders for GATA2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GATA2 gene, integrated from 10 sources (see all 312):
    (articles sorted by number of sources associating them with GATA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of the GATA-binding protein that regulates endothelin-1 gene expression in endothelial cells. (PubMed id 1714909)1, 2, 3, 9 Lee M.-E.... Quertermous T. (J. Biol. Chem. 1991)
    2. Association study of GATA-2 transcription factor gene (GATA2) polymorphism and Parkinson's disease. (PubMed id 19864173)1, 4, 9 Kurzawski M....DroA_dzik M. (amp 2010)
    3. Human transcription factor GATA-2. Evidence for regulation of preproendothelin-1 gene expression in endothelial cells. (PubMed id 1370462)1, 2, 9 Dorfman D.M.... Orkin S.H. (J. Biol. Chem. 1992)
    4. GATA-2 L359 V mutation is exclusively associated with CML progression but not other hematological malignancies and GATA-2 P250A is a novel single nucleotide polymorphism. (PubMed id 19304323)1, 4, 9 Zhang S.J....Li J.Y. (Leuk. Res. 2009)
    5. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. (PubMed id 21670465)1, 2 Hsu A.P.... Holland S.M. (Blood 2011)
    6. Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). (PubMed id 21892158)1, 2 Ostergaard P.... Mansour S. (Nat. Genet. 2011)
    7. Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. (PubMed id 21892162)1, 2 Hahn C.N....Scott H.S. (Nat. Genet. 2011)
    8. Genetic evidence for a role of IL33 in nasal polyposis. (PubMed id 19860791)1, 4 Buysschaert I.D....Lambrechts D. (Allergy 2010)
    9. The transcription factor GATA-2 does not associate with angiographic coronary artery disease in the Ottawa Heart Genomics and Cleveland Clinic GeneBank Studies. (PubMed id 19885677)1, 4 Dandona S....Stewart A.F. (Hum. Genet. 2010)
    10. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2624 HGNC: 4171 AceView: GATA2 Ensembl:ENSG00000179348 euGenes: HUgn2624
    ECgene: GATA2 H-InvDB: GATA2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for GATA2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GATA2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GATA2 gene:
    Search GeneIP for patents involving GATA2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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