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    GATA3 GATA binding protein 3 [ Homo sapiens (human) ]

    Gene ID: 2625, updated on 23-Apr-2017
    Official Symbol
    GATA3provided by HGNC
    Official Full Name
    GATA binding protein 3provided by HGNC
    Primary source
    HGNC:HGNC:4172
    See related
    Ensembl:ENSG00000107485 MIM:131320; Vega:OTTHUMG00000017640
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HDR; HDRS
    Summary
    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]
    Orthologs
    Location:
    10p14
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (8045421..8075201)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (8087294..8117164)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene TATA-box binding protein associated factor 3 Neighboring gene uncharacterized LOC105376394 Neighboring gene uncharacterized LOC107984204 Neighboring gene GATA3 antisense RNA 1 Neighboring gene uncharacterized LOC105376395 Neighboring gene PRP38 domain containing A pseudogene 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Barakat syndrome
    MedGen: C1840333 OMIM: 146255 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2011-10-28)

    ClinGen Genome Curation PagePubMed
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2011-10-28)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
    NHGRI GWA Catalog
    A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3).
    NHGRI GWA Catalog
    A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus.
    NHGRI GWA Catalog
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    NHGRI GWA Catalog
    Genome-wide diet-gene interaction analyses for risk of colorectal cancer.
    NHGRI GWA Catalog
    Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
    NHGRI GWA Catalog
    Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype.
    NHGRI GWA Catalog
    Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Amino acids 19-26 of HIV-1 Nef mediate the binding of Nef to murine GATA-1 and GATA-3 in vitro, suggesting Nef may act as a nuclear regulatory factor through binding to human GATA-1 and GATA-3 PubMed

    Go to the HIV-1, Human Interaction Database

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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC2346, MGC5199, MGC5445

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    E-box binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    HMG box domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    RNA polymerase II core promoter sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polymerase II regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    RNA polymerase II transcription factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    core promoter proximal region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    core promoter sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enhancer sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    interleukin-2 receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    nucleic acid binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleic acid binding transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor activity, sequence-specific DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription regulatory region DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    T cell receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    T-helper 2 cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    TOR signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    anatomical structure formation involved in morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    anatomical structure morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    aortic valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    canonical Wnt signaling pathway involved in metanephric kidney development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cardiac right ventricle morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell fate determination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell maturation IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to BMP stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to interferon-alpha IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    cellular response to interleukin-4 IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    cellular response to tumor necrosis factor IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    cochlea development IEA
    Inferred from Electronic Annotation
    more info
     
    defense response TAS
    Traceable Author Statement
    more info
    PubMed 
    developmental growth IEA
    Inferred from Electronic Annotation
    more info
     
    ear development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    embryonic hemopoiesis IEA
    Inferred from Electronic Annotation
    more info
     
    erythrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    humoral immune response IEA
    Inferred from Electronic Annotation
    more info
     
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    inner ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    interferon-gamma secretion IEA
    Inferred from Electronic Annotation
    more info
     
    interleukin-4 secretion IEA
    Inferred from Electronic Annotation
    more info
     
    kidney development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lens development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    lymphocyte migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    male gonad development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mast cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    mesenchymal to epithelial transition IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mesonephros development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of DNA demethylation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cell motility IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of cell proliferation involved in mesonephros development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of endothelial cell apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of fat cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of interferon-gamma production IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of interleukin-2 production IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of mammary gland epithelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nephric duct formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nephric duct morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    norepinephrine biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    otic vesicle development IEA
    Inferred from Electronic Annotation
    more info
     
    parathyroid gland development IEA
    Inferred from Electronic Annotation
    more info
     
    parathyroid hormone secretion IEA
    Inferred from Electronic Annotation
    more info
     
    pharyngeal system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    phosphatidylinositol 3-kinase signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of T cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of T-helper 2 cell cytokine production IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of endothelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of histone H3-K14 acetylation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of histone H3-K9 acetylation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of interleukin-13 secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of interleukin-13 secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of interleukin-4 production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of interleukin-5 secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein kinase B signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of thyroid hormone generation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription regulatory region DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription, DNA-templated ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of ureteric bud formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    pro-T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    protein deubiquitination TAS
    Traceable Author Statement
    more info
     
    regulation of CD4-positive, alpha-beta T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cellular response to X-ray IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cytokine biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of establishment of cell polarity IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of histone H3-K27 methylation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of histone H3-K4 methylation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of nephron tubule epithelial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of neuron projection development IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to estrogen IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    response to gamma radiation IEA
    Inferred from Electronic Annotation
    more info
     
    response to virus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sympathetic nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    thymic T cell selection IEA
    Inferred from Electronic Annotation
    more info
     
    thymus development IEA
    Inferred from Electronic Annotation
    more info
     
    transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    PubMed 
    type IV hypersensitivity IEA
    Inferred from Electronic Annotation
    more info
     
    ureter maturation IEA
    Inferred from Electronic Annotation
    more info
     
    ureteric bud formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    uterus development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ventricular septum development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    nuclear chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    trans-acting T-cell-specific transcription factor GATA-3
    Names
    GATA-binding factor 3

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_015859.1 RefSeqGene

      Range
      5001..25498
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001002295.1NP_001002295.1  trans-acting T-cell-specific transcription factor GATA-3 isoform 1

      See identical proteins and their annotated locations for NP_001002295.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AI024501, AI686327, BC003070, BC006793, BC006839, BG287052, BM152193
      Consensus CDS
      CCDS31143.1
      UniProtKB/Swiss-Prot
      P23771
      Related
      ENSP00000368632.3, OTTHUMP00000019070, ENST00000379328.7, OTTHUMT00000046718
      Conserved Domains (2) summary
      smart00401
      Location:313362
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      cd00202
      Location:317367
      ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C
    2. NM_002051.2NP_002042.1  trans-acting T-cell-specific transcription factor GATA-3 isoform 2

      See identical proteins and their annotated locations for NP_002042.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the mid-coding region, compared to variant 1, resulting in an isoform (2) that is 1 aa shorter than isoform 1.
      Source sequence(s)
      AI024501, AI686327, BC006793, BC006839, BG287052, BM152193
      Consensus CDS
      CCDS7083.1
      UniProtKB/Swiss-Prot
      P23771
      Related
      ENSP00000341619.3, OTTHUMP00000019071, ENST00000346208.3, OTTHUMT00000046719
      Conserved Domains (2) summary
      smart00401
      Location:312361
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      cd00202
      Location:316366
      ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      8045421..8075201
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005252443.4XP_005252500.1  trans-acting T-cell-specific transcription factor GATA-3 isoform X1

      See identical proteins and their annotated locations for XP_005252500.1

      UniProtKB/Swiss-Prot
      P23771
      Conserved Domains (2) summary
      smart00401
      Location:313362
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      cd00202
      Location:317367
      ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C
    2. XM_005252442.2XP_005252499.1  trans-acting T-cell-specific transcription factor GATA-3 isoform X1

      See identical proteins and their annotated locations for XP_005252499.1

      UniProtKB/Swiss-Prot
      P23771
      Conserved Domains (2) summary
      smart00401
      Location:313362
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      cd00202
      Location:317367
      ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      8096969..8117441
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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