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

GATA3 Gene

protein-coding   GIFtS: 66
GCID: GC10P008095

GATA binding protein 3

(Previous name: GATA-binding protein 3 )
 Explore 64 diseases affiliated with
GATA3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for GATA3    

Aliases
for GATA3 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 31 2
HDR1 2 5
GATA-Binding Factor 32 3
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


Summaries
for GATA3 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 GATA3:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_008705.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GATA3 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GATA3 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

Proteins
for GATA3 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P23771

    • GATA3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000368632   ENSP00000341619  
    Reactome Protein details: P23771
    Human Recombinant Protein Products: 
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    Uscn 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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    Uscn ELISAs and CLIAs for GATA3

    Protein Domains /
    Families
    for GATA3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    GATA3 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 P23771

    ProtoNet protein and cluster: P23771

    1 Blocks protein family: 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


    Function
    for GATA3 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: 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

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    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


    Animal Models:
         Mouse knock-outs for GATA3: Gata3tm1Jml Gata3tm1.2Bchd Gata3tm1Jeng
         15/20 MGI mutant phenotypes (inferred from 10 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


    Pathways & Interactions
    for GATA3 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 - 5/16 super-pathways (see all 16) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Immune response_IL-4 signaling pathway
    		Immune response_IL-4 signaling pathway1.00
    		Immune response IL-4 signaling pathway0.98
    2IL27-mediated signaling events
    		IL27-mediated signaling events1.00
    		Th1 Differentiation0.38
    3Lymphocyte Signaling
    		Lymphocyte Signaling1.00
    4Factors involved in megakaryocyte development and platelet production
    		Factors involved in megakaryocyte development and platelet production1.00
    5SIDS Susceptibility Pathways
    		SIDS Susceptibility Pathways1.00

    Pathway sources
    See GeneCards unified pathways
    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) 
        SIDS Susceptibility Pathways
    Adipogenesis
    TCR Signaling Pathway
    Calcineurin-regulated NFAT-dependent transcription in lymphocytes
    Notch signaling pathway

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



    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): 5/111 biological process terms (GO ID links to tree view) (see all 111):    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



    Drugs & Compounds
    for GATA3 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

    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 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 

    Transcripts
    for GATA3 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 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

    miRNA
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    Inhib. RNA
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    Additional cDNA 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):

    BP429648 AI972378 CB145787 BF594726 AA384707 AA384739 H88809 NM_001002295 
    AA359752 NM_002051 BQ882897 BM706223 BQ068878 BC003070 BG285517 BG619327 
    AA844032 AI636940 AI796169 R99734 H52046 BC006839 BQ072011 BM152193 

    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

    Expression
    for GATA3 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

    GATA3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAGGATGCCA

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

    GATA3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/27 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 27) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BloodPeripheral BloodCommon Lymphoid Progenitor CellsBlood
    Lateral Plate MesodermAorta-Gonad-MesonephrosHematopoietic Stem CellsBlood
    LiverLiver BudHematopoietic Stem CellsBlood
    TrophoblastMural TrophectodermMural Trophectoderm CellsExtraembryonic Tissues
    TrophoblastTrophoblastTrophoblast CellsExtraembryonic Tissues
    BloodPeripheral BloodCommon Myeloid Progenitor CellsBlood
    BloodPeripheral BloodPro-B CellsBlood
    Early Embryo (Zygote)Zygote2-Cell EmbryoEarly Embryo
    Early Embryo (Zygote)ZygoteZygoteEarly Embryo
    Inner Cell MassInner Cell MassInner Cell Mass CellsEarly Embryo
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 6 LifeMap Cells 
    NameCategory
    PureStem™ progenitor EN27 (Embryonic Progenitor Cell)
    Endoderm progenitor-like cells (Generation and expan...)
    Syncytiotrophoblast-like cells (Generation of syncyt...)
    Primitive gut tube-like cells (A scalable, suspensi...)
    DKK1-induced cells (Derivation of cardio...)
    Mesoderm-like cells (Derivation of cardio...)

    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
    Assay Products:     
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    Orthologs
    for GATA3 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 GATA3 gene from 7/23 species (see all 23)    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
    		 --
    		 92(a)
    		 1 ↔ 1
    		 GL344139.1(3940-47923)
    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)   --


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

    Paralogs
    for GATA3 gene

    (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  
    4 SIMAP similar genes for GATA3 using alignment to 1 protein entry:     GATA3_HUMAN:
    GATA2    GATA4    GATA1    GATA5

    GATA3 for paralogs           About GeneDecksing



    Genomic Variants
    for GATA3 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

    10/582 NCBI SNPs in GATA3 are shown (see all 582)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 10 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048941641,2
    		Cpathogenic53529896(+) GAAACC/TGAAAA 4 R * stg10--------
    rs1048941651,2
    		Cpathogenic53529936(+) AACAGA/TCCCCT 4 R S mis10--------
    rs1048941621,2
    		Cpathogenic53539608(+) GGCGGC/TGAGAT 4 R * stg10--------
    rs1048941631,2
    		Cpathogenic53539614(+) CACTGA/TGGCGG 4 R W mis10--------
    rs358146761,2
    		C,F,--8013059(-) CACAGC/TGCTCT 2 -- us2k15Minor allele frequency- T:0.01MN 392
    rs5205071,2
    		C,F,A,--8013097(+) TGGCCC/GAGGAG 2 -- us2k19Minor allele frequency- G:0.07EA NA MN WA 1344
    rs355970561,2
    		C,F,--8013152(-) TAGGCG/AGCCCA 2 -- us2k16Minor allele frequency- A:0.01MN WA 526
    rs112555021,2
    		--8013716(+) CCTGCA/TCGCCC 2 -- us2k10--------
    rs127845041,2
    		H--8014046(+) GCTGGC/TTTCCT 2 -- us2k14Minor allele frequency- T:0.00NS EA 380
    rs115678791,2
    		C,F,H,--8014068(+) GAAACA/GCCGGG 2 -- us2k17Minor allele frequency- G:0.33NS EA NA 596

    HapMap Linkage Disequilibrium report for GATA3 (8095567 - 8117164 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for GATA3
         1 CNV: 48638
    Human Gene Mutation Database (HGMD): GATA3

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GATA3
    DNA2.0 Custom Variant and Variant Library Synthesis for GATA3

    Disorders / Diseases
    for GATA3 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
    GATA3 for disorders           About GeneDecksing

    OMIM gene information: 131320   
    OMIM disorders: 146255  
    UniProtKB/Swiss-Prot: GATA3_HUMAN, P23771
  • Defects in GATA3 are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia (HDR)
    • [MIM:146255]; also known as Barakat syndrome

    20/64 diseases for GATA3 (see all 64):    About MalaCards
    hypoparathyroidism    estrogen-receptor positive breast cancer    fibrous histiocytoma    malignant fibrous histiocytoma
    pseudopapilledema    allergic rhinitis    barakat syndrome    hdr syndrome
    lupus nephritis    lupus erythematosus    histiocytoma    nephritis
    systemic lupus erythematosus    aplastic anemia    hypomagnesemia    atopic dermatitis
    rhinitis    acute lymphoblastic leukemia    rheumatoid arthritis    chronic lymphocytic leukemia

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

    10/31 Novoseek 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

    Publications
    for GATA3 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 GATA3 gene, integrated from 9 sources (see all 394):
    (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. 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)
    3. GATA3 haplo-insufficiency causes human HDR syndrome. (PubMed id 10935639)1, 2, 9 Van Esch H.... Devriendt K. (2000)
    4. Association analysis of common variants of STAT6, GATA3, and STAT4 to asthma and high serum IgE phenotypes. (PubMed id 15637551)1, 4 Pykalainen M....Lahesmaa R. (2005)
    5. 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)
    6. GATA3 abnormalities and the phenotypic spectrum of HDR syndrome. (PubMed id 11389161)1, 2 Muroya K....Ogata T. (2001)
    7. Murine and human T-lymphocyte GATA-3 factors mediate transcription through a cis-regulatory element within the human T-cell receptor delta gene enhancer. (PubMed id 2017177)1, 2 Ko L.J.... Engel J.D. (1991)
    8. Human GATA-3: a lineage-restricted transcription factor that regulates the expression of the T cell receptor alpha gene. (PubMed id 1827068)1, 2 Ho I.-C....Leiden J.M. (1991)
    9. The human enhancer-binding protein Gata3 binds to several T-cell receptor regulatory elements. (PubMed id 1871134)1, 2 Marine J. and Winoto A. (1991)
    10. [Relationship between transcription factor GATA-3 and cytokines expression in chronic sinusitis] (PubMed id 17628972)1, 9 Xu R....Feng L.Q. (2007)

    External Searches for GATA3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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    Genome Databases showing GATA3 gene

    (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 H-InvDB: GATA3

    Other Databases showing GATA3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing GATA3 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 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/

    Intellectual Property
    for GATA3 gene

    (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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