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

    Gene ID: 2625, updated on 3-Oct-2021

    Summary

    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
    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]
    Expression
    Biased expression in skin (RPKM 54.6), urinary bladder (RPKM 20.0) and 7 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GATA3 in Genome Data Viewer
    Location:
    10p14
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (8045420..8075198)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (8096651..8117161)

    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

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
    GeneReviews: Not available
    A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3).
    GeneReviews: Not available
    A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus.
    GeneReviews: Not available
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    GeneReviews: Not available
    Genome-wide diet-gene interaction analyses for risk of colorectal cancer.
    GeneReviews: Not available
    Hypoparathyroidism, deafness, renal disease syndrome
    MedGen: C1840333 OMIM: 146255 GeneReviews: Not available
    Compare labs
    Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.
    GeneReviews: Not available
    Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
    GeneReviews: Not available
    Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype.
    GeneReviews: Not available
    Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma.
    GeneReviews: Not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-06-24)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-06-24)

    ClinGen Genome Curation PagePubMed

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC2346, MGC5199, MGC5445

    Gene Ontology Provided by GOA

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

    General protein information

    Preferred Names
    trans-acting T-cell-specific transcription factor GATA-3
    Names
    GATA-binding factor 3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4985..25495
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001002295.2NP_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, AL390294, BC003070, BC006793, BC006839, BM152193
      Consensus CDS
      CCDS31143.1
      UniProtKB/Swiss-Prot
      P23771
      Related
      ENSP00000368632.3, ENST00000379328.9
      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_002051.3NP_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, AL390294, BC006793, BC006839, BM152193
      Consensus CDS
      CCDS7083.1
      UniProtKB/Swiss-Prot
      P23771
      Related
      ENSP00000341619.3, ENST00000346208.4
      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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      8045420..8075198
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005252443.5XP_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
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