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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)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
GATA Binding Protein 21 2
GATA-Binding Protein 21 3
DCML2
MONOMAC2
NFE1B2
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


(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 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 myelodysplastic syndromes, and acute myeloid leukemia, susceptibility, gata2-related, and among its related super-pathways are DREAM Repression and Dynorphin Expression and Platelet activation, signaling and aggregation. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_005612.16  NC_018914.2  
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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for GATA2 at MOPED 

Post-translational modifications:

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

  • GATA2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GATA2 Protein Expression
    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 for GATA2: 
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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 

    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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    Cloud-Clone Corp. ELISAs for GATA2 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/11 molecular function terms (GO ID links to tree view) (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 
     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 - Custom generated mouse model solutions for GATA2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

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    SwitchGear 3'UTR luciferase reporter plasmidGATA2 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GATA2 About   (see all 13)                                                                                              See pathways by source

    SuperPathContained pathways About
    1DREAM Repression and Dynorphin Expression
    BMP Pathway0.44
    2Platelet activation, signaling and aggregation
    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 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)
        Adipogenesis
    SIDS Susceptibility Pathways
    IL-3 Signaling Pathway
    Signaling events mediated by HDAC Class I
    Regulation of Androgen receptor activity

    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): 5/34 biological process terms (GO ID links to tree view) (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-dependent IDA16153155

    GATA2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 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)

    Search CenterWatch for drugs/clinical trials and news about GATA2

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, 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

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    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 

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

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

    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

    (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)      GATA2 embryonic expression: see
    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 
     5/26 selected tissues (see all 26) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 13 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             PureStem endothelial progenitor 30-MV2-12
             Fetal Liver CD36+ Cells   
             mouse/organ system/cardiovascular system   
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Thalamus
             GABA neuron-like cells ( Generation of motor and gamma-aminobutyric acid (GABA)...
             future brain/future rhombencephalon/rhombomere 04   
     
     Endothelium (Cardiovascular System)    fully expand to see all 4 entries
             Hemangioblasts Posterior Primitive Streak
             PureStem ES-335, Meso-latp Progenitor
             VEGF-induced cells ( Generation of hematopoietic and endothelial progenitor cells...
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             Outflow Tract
             heart/atrium   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 4 entries
             Ureter
             visceral organ/bladder   

    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: 
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              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
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    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

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

    Orthologs for GATA2 gene from 8/18 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 80.19(n)
    89.91(a)
      416018  NM_001003797.1  NP_001003797.1 
    lizard
    (Anolis carolinensis)
    Reptilia GATA26
    Uncharacterized protein
    73(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 GZF36
    GLN36
    (see all 4)
    GATA zinc finger protein and Dal80p homolog that n...
    Transcriptional activator of genes regulated by ni...
    (see all 4)
    9(a)
    7(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    X(209922-211577)
    V(229795-231987)


    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)
    About This Section
    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) 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

    10/394 SNPs in GATA2 are shown (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 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
    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 137295    OMIM disorders: --

    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

  • 20/38 diseases for GATA2 (see all 38):    About MalaCards
    myelodysplastic syndromes    acute myeloid leukemia, susceptibility, gata2-related    myelodysplastic syndrome, susceptibility, gata2-related    lymphedema, primary, with myelodysplasia
    acute myeloid leukemia    t lymphocyte deficiency    chronic myelomonocytic leukemia    stem cell leukemia
    lymphedema    pulmonary alveolar proteinosis    aplastic anemia    acute leukemia
    myeloid leukemia    chronic myeloid leukemia    pituitary adenoma    down syndrome
    t-cell leukemia    anemia    endotheliitis    adenoma

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

    GATA2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/20 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)
    About This Section

    PubMed articles for GATA2 gene, integrated from 9 sources (see all 311):
    (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. 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. (2009)
    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. (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. (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. (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. (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. (2011)
    8. The transcription factor GATA-2 does not associate wi th angiographic coronary artery disease in the Ottawa Heart Genomics and Clevel and Clinic GeneBank Studies. (PubMed id 19885677)1, 4 Dandona S....Stewart A.F. (2010)
    9. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    10. Genetic evidence for a role of IL33 in nasal polyposi s. (PubMed id 19860791)1, 4 Buysschaert I.D....Lambrechts D. (2009)

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

      Query String
    PubMed
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    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)
    About This Section
    Entrez Gene: 2624 HGNC: 4171 AceView: GATA2 Ensembl:ENSG00000179348 euGenes: HUgn2624
    ECgene: GATA2 H-InvDB: GATA2

    (According to HUGE)
    About This Section
      --

    (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

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



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