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

GATA3 Gene

protein-coding   GIFtS: 68
GCID: GC10P008095

GATA Binding Protein 3

(Previous name: GATA-binding protein 3)
  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)
About This Section

Aliases
GATA Binding Protein 31 2
GATA-Binding Factor 32 3
HDR2 5
GATA-Binding Protein 31
HDRS2
Trans-Acting T-Cell-Specific Transcription Factor GATA-32

External Ids:    HGNC: 41721   Entrez Gene: 26252   Ensembl: ENSG000001074857   OMIM: 1313205   UniProtKB: P237713   

Export aliases for GATA3 gene to outside databases

Previous GC identifers: GC10P008040 GC10P008246 GC10P008100 GC10P008136 GC10P008015


(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 GATA3 Gene:
This gene encodes a protein which belongs to the GATA family of transcription factors. The protein contains two
GATA-type zinc fingers and is an important regulator of T-cell development and plays an important role in
endothelial cell biology. Defects in this gene are the cause of hypoparathyroidism with sensorineural deafness
and renal dysplasia. (provided by RefSeq, Nov 2009)

GeneCards Summary for GATA3 Gene: 
GATA3 (GATA binding protein 3) is a protein-coding gene. Diseases associated with GATA3 include renal dysplasia, and hypoparathyroidism, sensorineural deafness, and renal disease, and among its related super-pathways are Th1 Differentiation and DREAM Repression and Dynorphin Expression. GO annotations related to this gene include transcription coactivator activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is GATA6.

UniProtKB/Swiss-Prot: GATA3_HUMAN, P23771
Function: Transcriptional activator which binds to the enhancer of the T-cell receptor alpha and delta genes.
Binds to the consensus sequence 5'-AGATAG-3'

Gene Wiki entry for GATA3 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_000010.10  NT_008705.16  NC_018921.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GATA3 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGATA3 promoter sequence
   Search SABiosciences Chromatin IP Primers for GATA3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GATA3


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

Entrez Gene cytogenetic band: 10p15   Ensembl cytogenetic band:  10p14   HGNC cytogenetic band: 10p15

GATA3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GATA3 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P008095:  view genomic region     (about GC identifiers)

Start:
8,095,567 bp from pter      End:
8,117,164 bp from pter
Size:
21,598 bases      Orientation:
plus 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: GATA3_HUMAN, P23771 (See protein sequence)
Recommended Name: Trans-acting T-cell-specific transcription factor GATA-3  
Size: 443 amino acids; 47916 Da
Subcellular location: Nucleus
3 PDB 3D structures from and Proteopedia for GATA3:
4HC7 (3D)        4HC9 (3D)        4HCA (3D)    
Secondary accessions: Q5VWG7 Q5VWG8 Q96J16
Alternative splicing: 2 isoforms:  P23771-1   P23771-2   

Explore the universe of human proteins at neXtProt for GATA3: NX_P23771

Explore proteomics data for GATA3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P23771

  • GATA3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GATA3 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001002295.1  NP_002042.1  

    ENSEMBL proteins: 
     ENSP00000368632   ENSP00000341619  
    Reactome Protein details: P23771
    Human Recombinant Protein Products for GATA3: 
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    Novus Biologicals GATA3 Proteins
    Novus Biologicals GATA3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GATA3 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin IDA--
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--

    GATA3 for ontologies           About GeneDecksing



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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 P23771

    ProtoNet protein and cluster: P23771

    1 Blocks protein domain: IPB000679 Zn-finger

    UniProtKB/Swiss-Prot: GATA3_HUMAN, P23771
    Domain: Binds DNA via the 2 GATA-type zinc fingers (By similarity)
    Similarity: Contains 2 GATA-type zinc fingers


    GATA3 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: GATA3_HUMAN, P23771
    Function: Transcriptional activator which binds to the enhancer of the T-cell receptor alpha and delta genes.
    Binds to the consensus sequence 5'-AGATAG-3'

         Genatlas biochemistry entry for GATA3:
    T cell specific transcription factor,GATA sequence binding protein in T cell receptor,also expressed in
    endothelial cell,placenta,transcriptional regulator in kidney,adrenal gland,embryonic brain,adult nervous system
    endocardium,associated with a special class of nuclear bodies

         Gene Ontology (GO): 5/21 molecular function terms (GO ID links to tree view) (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000976transcription regulatory region sequence-specific DNA binding IDA19723756
    GO:0000977RNA polymerase II regulatory region sequence-specific DNA binding ----
    GO:0000979RNA polymerase II core promoter sequence-specific DNA binding IEA--
    GO:0000987core promoter proximal region sequence-specific DNA binding IDA19232384
    GO:0001046core promoter sequence-specific DNA binding IDA19674970
         
    GATA3 for ontologies           About GeneDecksing


    Phenotypes:
         15/20 MGI mutant phenotypes (inferred from 11 alleles(MGI details for Gata3) (see all 20):
     adipose tissue  cardiovascular system  cellular  craniofacial  embryogenesis 
     endocrine/exocrine gland  growth/size  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism 
     immune system  integument  mortality/aging  nervous system  normal 

    GATA3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for GATA3: Gata3tm1Jml Gata3tm1.2Bchd Gata3tm1Jeng

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GATA3 
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GATA3 

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    SwitchGear 3'UTR luciferase reporter plasmidGATA3 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 GATA3 About   (see all 17)                                                                                              See pathways by source

    SuperPathContained pathways About
    1IL27-mediated signaling events
    IL27-mediated signaling events0.38
    Th1 Differentiation0.38
    2DREAM Repression and Dynorphin Expression
    BMP Pathway0.44
    3Platelet activation, signaling and aggregation
    Hemostasis0.43
    4G-AlphaQ Signaling
    Thrombin Signaling0.40
    5Immune response Fc epsilon RI pathway
    Immune response IL-4 signaling pathway0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for GATA3
        Immune response IL-4 signaling pathway

    2 R&D Systems Pathways for GATA3
        IL-4 Signaling and its Primary Biological Effects in Different Immune Cell Types
    Th1 Differentiation

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GATA3
        BMP Pathway
    Thrombin Signaling

    1 Cell Signaling Technology (CST) Pathway for GATA3
        Lymphocyte Signaling

    1 GeneGo (Thomson Reuters) Pathway for GATA3
        Immune response IL-4 signaling pathway

    5/9 BioSystems Pathways for GATA3 (see all 9)
        Adipogenesis
    SIDS Susceptibility Pathways
    TCR Signaling Pathway
    Calcineurin-regulated NFAT-dependent transcription in lymphocytes
    Glucocorticoid receptor regulatory network

    2        Reactome Pathways for GATA3
        Hemostasis
    Factors involved in megakaryocyte development and platelet production


    1         Kegg Pathway  (Kegg details for GATA3):
        Inflammatory bowel disease (IBD)


    GATA3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GATA3

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

    5/43 Interacting proteins for GATA3 (P237712, 3 ENSP000003686324) via UniProtKB, MINT, STRING, and/or I2D (see all 43)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TAL1P175422, 3, ENSP000002943394MINT-8142126 I2D: score=3 STRING: ENSP00000294339
    ETS1P149212, 3, ENSP000003764364MINT-8142126 I2D: score=1 STRING: ENSP00000376436
    MED1Q156483, ENSP000003006514I2D: score=5 STRING: ENSP00000300651
    LMO1P258003, ENSP000003382074I2D: score=3 STRING: ENSP00000338207
    LMO2P257913, ENSP000002578184I2D: score=3 STRING: ENSP00000257818
    About this table

    Gene Ontology (GO): 5/110 biological process terms (GO ID links to tree view) (see all 110):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ----
    GO:0000902cell morphogenesis ----
    GO:0001701in utero embryonic development IEA--
    GO:0001709cell fate determination ISS--
    GO:0001764neuron migration IEA--

    GATA3 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

    GATA3 for compounds           About GeneDecksing

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

    Browse Tocris compounds for GATA3

    10/15 Novoseek inferred chemical compound relationships for GATA3 gene (see all 15)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 31.7 15 17210674 (2), 18338249 (1), 18445004 (1), 16912130 (1) (see all 11)
    ionomycin 25.6 1 15996929 (1)
    estrogen 24 21 20173733 (3), 15848360 (2), 18268121 (2), 15361840 (1) (see all 13)
    tgf beta1 13.8 1 16916450 (1)
    lipid 5.27 2 17116754 (1)
    retinoic acid 1.21 4 8276858 (2), 17118196 (1), 19748983 (1)
    oligonucleotide 0 4 11937547 (1), 19735555 (1)
    estradiol 0 5 17616709 (3), 10096242 (1)
    allergens 0 1 18154619 (1)
    steroid 0 1 19862839 (1)

    Search CenterWatch for drugs/clinical trials and news about GATA3

    (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 GATA3 gene (2 alternative transcripts): 
    NM_001002295.1  NM_002051.2  

    Unigene Cluster for GATA3:

    GATA binding protein 3
    Hs.524134  [show with all ESTs]
    Unigene Representative Sequence: NM_001002295
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000481743 ENST00000379328(uc001ijz.3 uc001ika.3) ENST00000346208
    ENST00000461472
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    Additional mRNA sequence: 

    AK298213.1 BC003070.2 BC006793.1 BC006839.1 M69106.1 X55037.1 X55122.1 X58072.1 

    7 DOTS entries:

    DT.448323  DT.91733280  DT.121225701  DT.97794782  DT.100776576  DT.91930736  DT.91733248 

    24/166 AceView cDNA sequences (see all 166):

    AA384739 BG285517 BQ068878 AI972378 H88809 BP429648 CB145787 BF594726 
    BM706223 BC003070 NM_002051 AA359752 NM_001002295 BQ882897 AA384707 BG619327 
    BM152193 H52046 AI951489 AI660163 CB961878 N66364 BG287052 AI796169 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for GATA3    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b
    SP1:                                                
    SP2:                                                
    SP3:                          -                     


    ECgene alternative splicing isoforms for GATA3

    (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

    GATA3 expression in normal human tissues (normalized intensities)      GATA3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGGATGCCA
    GATA3 Expression
    About this image


    GATA3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/53 selected tissues (see all 53) fully expand
     
     Brain (Nervous System)    fully expand to see all 12 entries
             Thalamus
             ganglion/cranial   
     
     Hair
             Fetal Inner Root Sheath Cells Inner Root Sheath
             mouse/organ system/integumental system   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 9 entries
             Ureter
             urinary bladder ; urothelial cells   
             visceral organ/bladder   
     
     Blood (Hematopoietic System)    fully expand to see all 8 entries
             Common Lymphoid Progenitor Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             mouse/organ system/cardiovascular system   
     
     Neural Tube (Nervous System)    fully expand to see all 8 entries
             Diencephalon
             brain/midbrain/lateral wall   

    See GATA3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GATA3

    SOURCE GeneReport for Unigene cluster: Hs.524134

    UniProtKB/Swiss-Prot: GATA3_HUMAN, P23771
    Tissue specificity: T-cells and endothelial cells

        SABiosciences Expression via Pathway-Focused PCR Arrays including GATA3 (see all 12): 
              JAK / STAT Signaling Pathway in human mouse rat
              Adipogenesis in human mouse rat
              Innate & Adaptive Immune Responses in human mouse rat
              Th17 Response in human mouse rat
              Breast Cancer in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GATA3

    (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 GATA3 gene from 8/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gata31 , 5 GATA binding protein 31, 5 89.89(n)1
    96.61(a)1
      2 (6.69 cM)5
    144621  NM_008091.31  NP_032117.11 
     98570785 
    chicken
    (Gallus gallus)
    Aves GATA31 GATA binding protein 3 83.45(n)
    92.33(a)
      419106  NM_001008444.1  NP_001008444.1 
    lizard
    (Anolis carolinensis)
    Reptilia GATA36
    Uncharacterized protein
    92(a)
    1 ↔ 1
    GL344139.1(3877-49044)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.7932 X.laevis GATA-binding protein (XGATA-3) gene, complete more 78.48(n)    M76565.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gata32 GATA-binding protein 3 77.51(n)   30458  NM_131211.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta grn1 , 3 histogenesis RNA polymerase II
    transcription factor3
    grain1
    86(a)
    (best of 2)3
    56.03(n)1
    53.68(a)1
      3 84F13
    409621  NM_169206.11  NP_731211.11 
    worm
    (Caenorhabditis elegans)
    Secernentea elt-13 elongation factor ELT 53(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)
    6(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    X(209922-211577)
    V(229795-231987)


    ENSEMBL Gene Tree for GATA3 (if available)
    TreeFam Gene Tree for GATA3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GATA3 gene
    GATA62  GATA42  GATA22  GATA12  GATA52  TRPS12  
    4 SIMAP similar genes for GATA3 using alignment to 1 protein entry:     GATA3_HUMAN:
    GATA2    GATA4    GATA1    GATA5

    GATA3 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

    10/691 SNPs in GATA3 are shown (see all 691)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0330254
    A breast cancer sample4--see VAR_0330252 R L mis40--------
    VAR_0178184
    Hypoparathyroidism, sensorineural deafness, and renal disease (HDR)4--see VAR_0178182 W R mis40--------
    rs1048941631,2
    Cpathogenic18017140(+) CACTGA/TGGCGG 4 R W mis10--------
    rs1048941621,2
    Cpathogenic18017146(+) GGCGGC/TGAGAT 4 R * stg10--------
    rs1048941651,2
    Cpathogenic18026847(+) AACAGA/TCCCCT 4 R S mis10--------
    rs1048941641,2
    Cpathogenic18026887(+) GAAACC/TGAAAA 4 R * stg10--------
    rs358146761,2
    C,F--8005865(-) CACAGC/TGCTCT 2 -- us2k15Minor allele frequency- T:0.01MN 392
    rs5205071,2
    C,F,A--8005903(+) TGGCCC/GAGGAG 2 -- us2k19Minor allele frequency- G:0.07EA NA MN WA 1344
    rs11499011,2
    C,F,A,H--8005927(+) GAGAAC/TGAAAG 2 -- us2k134Minor allele frequency- A:0.00EA NA NS MN WA CSA 2900
    rs355970561,2
    C,F--8005958(-) TAGGCG/AGCCCA 2 -- us2k16Minor allele frequency- A:0.01MN WA 526

    HapMap Linkage Disequilibrium report for GATA3 (8095567 - 8117164 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for GATA3:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv118e199CNV Deletion23128226
    esv1000455CNV Deletion20482838
    nsv5754CNV Insertion18451855
    nsv831780CNV Loss17160897
    nsv894851CNV Loss21882294
    dgv610n71CNV Loss21882294
    nsv894855CNV Loss21882294
    nsv894854CNV Loss21882294
    nsv517198CNV Loss19592680


    Human Gene Mutation Database (HGMD): GATA3
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing GATA3
    DNA2.0 Custom Variant and Variant Library Synthesis for GATA3

    (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: 131320   
    OMIM disorders: 146255  
    UniProtKB/Swiss-Prot: GATA3_HUMAN, P23771
  • Hypoparathyroidism, sensorineural deafness, and renal disease (HDR) [MIM:146255]: A disease characterized
    by steroid-resistant nephrosis with progressive renal failure, hypoparathyroidism, sensorineural deafness, and
    renal dysplasia. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/63 diseases for GATA3 (see all 63):    About MalaCards
    renal dysplasia    hypoparathyroidism, sensorineural deafness, and renal disease    barakat syndrome    pseudopapilledema
    hypoparathyroidism    nephritis    lupus nephritis    allergic rhinitis
    estrogen-receptor positive breast cancer    rhinitis    purpura    pharyngitis
    eosinophilia    aplastic anemia    histiocytoma    allergic asthma
    fibrous histiocytoma    eczema    sensorineural hearing loss    atopy

    6 diseases from the University of Copenhagen DISEASES database for GATA3:
    Asthma     Hypoparathyroidism     Eosinophilia     Hypersensitivity reaction type I disease
    Allergic rhinitis     Sensorineural hearing loss

    GATA3 for disorders           About GeneDecksing

    10/31 Novoseek inferred disease relationships for GATA3 gene (see all 31)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypoparathyroidism 70 20 16912130 (4), 15705923 (2), 17210674 (2), 19057839 (2) (see all 10)
    renal dysplasia 67.6 6 15705923 (2), 19659764 (1), 19248180 (1), 19022243 (1)
    deafness sensorineural 61.6 3 16509533 (1), 19022243 (1)
    renal anomaly 56 2 16509533 (1), 16319112 (1)
    asthma allergic 51.5 2 9949310 (1), 11295643 (1)
    asthma 41.3 16 11295643 (3), 16489117 (2), 12900517 (1), 15853749 (1) (see all 11)
    allergic rhinitis 40.1 24 19452711 (6), 18260379 (5), 15563083 (5), 10856149 (2) (see all 7)
    lupus nephritis 31.2 1 16461436 (1)
    inflammation 31 9 18691059 (2), 15907913 (1), 19843690 (1), 16753225 (1) (see all 7)
    purpura thrombocytopenic idiopathic 28 2 20113630 (2)

    Genetic Association Database (GAD): GATA3
    Human Genome Epidemiology (HuGE) Navigator: GATA3 (29 documents)

    Export disorders for GATA3 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 GATA3 gene, integrated from 9 sources (see all 413):
    (articles sorted by number of sources associating them with GATA3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A T-cell specific TCR delta DNA binding protein is a member of the human GATA family. (PubMed id 2050118)1, 2, 3 Joulin V.... Romeo P.-H. (1991)
    2. Polymorphisms in the interleukin 13 and GATA binding protein 3 genes and the development of eczema during childhood. (PubMed id 18410415)1, 4, 9 Arshad S.H....Ewart S. (2008)
    3. Patterns of GATA3 and IL13 gene polymorphisms associated with childhood rhinitis and atopy in a birth cohort. (PubMed id 18037162)1, 4, 9 Huebner M....Arshad S.H. (2008)
    4. Essential role of GATA3 for the maintenance of type 2 helper T (Th2) cytokine production and chromatin remodeling at the Th2 cytokine gene loci. (PubMed id 15087456)1, 3, 9 Yamashita M....Nakayama T. (2004)
    5. Common genetic variation in GATA-binding protein 3 and differential susceptibility to breast cancer by estrogen receptor alpha tumor status. (PubMed id 18006915)1, 4, 9 Garcia-Closas M....Perou C.M. (2007)
    6. Association of single nucleotide polymorphisms in GATA-3 with allergic rhinitis. (PubMed id 18607915)1, 4, 9 Zhang L....Zhao Y. (2008)
    7. GATA3 haplo-insufficiency causes human HDR syndrome. (PubMed id 10935639)1, 2, 9 Van Esch H.... Devriendt K. (2000)
    8. Frequent somatic mutations of GATA3 in non-BRCA1/BRCA2 familial breast tumors, but not in BRCA1-, BRCA2- or sporadic breast tumors. (PubMed id 19189213)1, 4, 9 Arnold J.M....Chenevix-Trench G. (2009)
    9. No evidence that GATA3 rs570613 SNP modifies breast cancer risk. (PubMed id 19082709)1, 4, 9 Johnatty S.E....Chenevix-Trench G. (2008)
    10. Genetic susceptibility to distinct bladder cancer sub phenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (2010)

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

      Query String
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    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)
    About This Section
    Entrez Gene: 2625 HGNC: 4172 AceView: GATA3 Ensembl:ENSG00000107485 euGenes: HUgn2625
    ECgene: GATA3 Kegg: 2625 H-InvDB: GATA3

    (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 GATA3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GATA3 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GATA3
    SeattleSNPshttp://pga.gs.washington.edu/data/gata3/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GATA3 gene:
    Search GeneIP for patents involving GATA3

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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