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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GATA2 Gene

protein-coding   GIFtS: 63
GCID: GC03M128198

GATA binding protein 2

(Previous name: GATA-binding protein 2 )
 Explore 38 diseases affiliated with
GATA2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for GATA2    

Aliases
for GATA2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
GATA Binding Protein 21 2
NFE1B1 2
GATA-Binding Protein 21 3
DCML2
MONOMAC2
Endothelial Transcription Factor GATA-22

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


Summaries
for GATA2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for GATA2:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GATA2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for GATA2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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)
Subcellular location: Nucleus
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P23769

    • GATA2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
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    Novus Biologicals GATA2 Proteins
    Novus Biologicals GATA2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for GATA2

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    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



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    Uscn ELISAs and CLIAs for GATA2

    Protein Domains /
    Families
    for GATA2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    GATA2 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: IPB000679 Zn-finger

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


    Function
    for GATA2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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'

         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

    miRNA
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    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 plasmid: GATA2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GATA2 

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    In Situ Assay
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    Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    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


    Animal Models:
         Mouse knock-outs for GATA2: Gata2tm1.1Sac Gata2tm1Sho
         14 MGI mutant phenotypes (inferred from 11 alleles) (MGI details for Gata2):
     cardiovascular system  cellular  embryogenesis  endocrine/exocrine gland  growth/size 
     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


    Pathways & Interactions
    for GATA2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/13 super-pathways (see all 13) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Lymphocyte Signaling
    		Lymphocyte Signaling1.00
    2Factors involved in megakaryocyte development and platelet production
    		Factors involved in megakaryocyte development and platelet production1.00
    3SIDS Susceptibility Pathways
    		SIDS Susceptibility Pathways1.00
    4IL-3 Signaling Pathway
    		IL-3 Signaling Pathway1.00
    5Adipogenesis
    		Adipogenesis1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

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

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

    5/7 BioSystems Pathways for GATA2 (see all 7) 
        SIDS Susceptibility Pathways
    Adipogenesis
    IL-3 Signaling Pathway
    Signaling events mediated by HDAC Class I
    Signaling events mediated by HDAC Class II

    2        Reactome Pathways for GATA2
        Hemostasis
    Factors involved in megakaryocyte development and platelet production



    GATA2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GATA2

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

    5/42 Interacting proteins for GATA2 (P237691, 3 ENSP000003456814) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    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): 5/33 biological process terms (GO ID links to tree view) (see all 33):    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-dependent IDA16153155


    GATA2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for GATA2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GATA2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GATA2
    10/13 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about GATA2 

    Transcripts
    for GATA2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    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
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    Inhib. RNA
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    Clone
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    Additional cDNA 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 

    24/180 AceView cDNA sequences (see all 180):

    BF433125 NM_032638 BE858858 AI954657 AI202702 BI494388 BC002557 AI375813 
    BQ026392 BI195665 BQ022387 BC051342 CF144613 CR621712 BE670978 BX394055 
    AI962483 BM662402 BE348488 BC015613 AI216622 BI819533 BE671935 AI658737 

    GeneLoc Exon Structure

    5/6 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

    Expression
    for GATA2 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GATA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GACAGTTGTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    GATA2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/11 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 11) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BloodPeripheral BloodCommon Myeloid Progenitor CellsBlood
    BoneBone MarrowHematopoietic Stem CellsBlood
    Extraembryonic MesodermExtraembryonic Blood IslandsPrimitive ErythrocytesBlood
    Lateral Plate MesodermAorta-Gonad-MesonephrosHematopoietic Stem CellsBlood
    LiverLiver BudHematopoietic Stem CellsBlood
    Yolk SacDefinitive Yolk SacErythroid Progenitor CellsBlood
    BloodPeripheral BloodCommon Lymphoid Progenitor CellsBlood
    AdiposeVisceral White AdiposeVisceral White PreadipocytesAdipose
    OvaryOvigerous CordXX Germ CellsFemale Gametocytes, Germ Cells
    Primitive StreakPosterior Primitive StreakHemangioblastsBlood, Endothelium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 8 LifeMap Cells 
    NameCategory
    PureStem™ endothelial progenitor 30-MV2-12 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ endothelial progenitor 30-MV2-14 (Embryonic Progenitor Cell)Endothelium
    PureStem™ progenitor W8 (Embryonic Progenitor Cell)
    Blast colony cells (Generation and expan...)
    VEGF-induced cells (Generation of hemato...)
    GABA neuron-like cells (Generation of motor ...)Brain
    Syncytiotrophoblast-like cells (Generation of syncyt...)
    Trophoblast-like cells (Generation of tropho...)

    See GATA2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GATA2

    SOURCE GeneReport for Unigene cluster: Hs.367725

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

        SABiosciences Expression via Pathway-Focused 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

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    In Situ
    Assay Products:     
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    Orthologs
    for GATA2 gene

    (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
    This gene was present in the common ancestor of animals.

    Orthologs for GATA2 gene from 6/24 species (see all 24)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves GATA21 GATA binding protein 2 80.19(n)
    89.91(a)    		   416018  NM_001003797.1  NP_001003797.1 
    lizard
    (Anolis carolinensis)    		 Reptilia GATA26
    		 --
    		 71(a)
    		 1 ↔ 1
    		 2(164958505-164975119)
    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)   --


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

    Paralogs
    for GATA2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GATA2 gene
    GATA62  GATA32  GATA42  GATA12  GATA52  
    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



    Genomic Variants
    for GATA2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/286 NCBI SNPs in GATA2 are shown (see all 286)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs781751511,2
    		C,--125581848(+) TCACTG/CATCAA 3 -- ds50012Minor allele frequency- C:0.08NA 122
    rs622709421,2
    		C,--125581849(+) CACTGA/GTCAAA 3 -- ds50012Minor allele frequency- G:0.02NA 122
    rs738622051,2
    		C,--125581986(+) GCAAAT/CGGAGA 3 -- ds50012Minor allele frequency- C:0.04WA 120
    rs778073441,2
    		C,--125582470(+) AAACAA/GAAAAT 3 -- ut310--------
    rs756181111,2
    		C,--125582476(+) AAAATA/CCTGCC 3 -- ut310--------
    rs454638951,2
    		C,F,--125583022(-) GCTGAT/AGAGTT 3 -- ut316Minor allele frequency- A:0.06NA WA EA 2254
    rs792708091,2
    		C,--125583147(+) GGCTGG/TGGCTT 3 -- ut310--------
    rs755454861,2
    		C,--125583153(+) GGCTTG/TCGCTC 3 -- ut310--------
    rs732034151,2
    		C,--125583189(+) TTCGGC/TCTCAA 3 -- ut311Minor allele frequency- T:0.01NA 120
    rs561354361,2
    		C--125583305(+) TCTCT-/GCCCTC 3 -- ut310--------

    HapMap Linkage Disequilibrium report for GATA2 (128198265 - 128212030 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for GATA2
         2 CNVs: 3447 31117
    Human Gene Mutation Database (HGMD): GATA2

    2 SABiosciences Cancer Mutation PCR Assays for GATA2:
    Cosmic IdAA Change
    41611p.L359V
    87004p.R362Q
    3 SABiosciences Cancer Mutation PCR Arrays containing GATA2:
    Hematopoietic Neoplasms
    Lung and Colon Cancers (Expanded Panel) 384HT   
    Cancer Comprehensive Panel 384HT
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GATA2
    DNA2.0 Custom Variant and Variant Library Synthesis for GATA2

    Disorders / Diseases
    for GATA2 gene

    (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.)
    About This Section
    GATA2 for disorders           About GeneDecksing

    OMIM gene information: 137295    OMIM disorders: --

    UniProtKB/Swiss-Prot: GATA2_HUMAN, P23769
  • Defects in GATA2 are the cause of dendritic cell monocyte lymphocyte B and natural killer lymphocyte
    • deficiency (DCML) [MIM:614172]. DCML is 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
  • Defects in GATA2 are a cause of 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
  • Defects in GATA2 are a cause of 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)

    20/38 diseases for GATA2 (see all 38):    About MalaCards
    pulmonary alveolar proteinosis    myeloid leukemia    myelomonocytic leukemia    stem cell leukemia
    mycobacterial infection    pituitary adenoma    chronic myelomonocytic leukemia    aplastic anemia
    leukemia    myelodysplastic syndrome    down syndrome    acute myeloid leukemia
    chronic myeloid leukemia    lymphoblastic leukemia    leukemia/lymphoma    myocardial infarction
    lymphedema    acute leukemia    hodgkin's lymphoma    t-cell leukemia

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

    10/20 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: GATA2 (14 documents)

    Export disorders for GATA2 gene to outside databases

    Publications
    for GATA2 gene

    (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)
    About This Section

    PubMed articles for GATA2 gene, integrated from 9 sources (see all 296):
    (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. (1991)
    2. 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. (1992)
    3. 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. (2011)
    4. 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. (2011)
    5. Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. (PubMed id 21892162)1, 2 Hahn C.N....Scott H.S. (2011)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. High GATA-2 expression inhibits human hematopoietic stem and progenitor cell function by effects on cell cycle. (PubMed id 19168794)1, 9 Tipping A.J....Enver T. (2009)
    9. A role for GATA-2 in transition to an aggressive phen otype in prostate cancer through modulation of key androgen-regulated genes. (PubMed id 19684615)1, 9 BAPhm M....Henshall S.M. (2009)
    10. Downregulation of GATA-2 and overexpression of adipog enic gene-PPARgamma in mesenchymal stem cells from patients with aplastic anemi a. (PubMed id 19772889)1, 9 Xu Y....Kojima S. (2009)

    External Searches for GATA2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing GATA2 gene

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

    Other Databases showing GATA2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing GATA2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GATA2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GATA2 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for GATA2 gene

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

    GeneCards and IP:
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