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

Gene ID: 2625, updated on 10-Jun-2018
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]
Expression
Biased expression in skin (RPKM 54.6), urinary bladder (RPKM 20.0) and 7 other tissues See more
Orthologs
See GATA3 in Genome Data Viewer
Location:
10p14
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (8045420..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 
DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity IMP
Inferred from Mutant Phenotype
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 proximal promoter sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II transcription factor activity, sequence-specific DNA binding ISA
Inferred from Sequence Alignment
more info
 
RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM
Inferred from Sequence Model
more info
PubMed 
RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
Non-traceable Author Statement
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
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor activity, RNA polymerase II transcription factor binding IBA
Inferred from Biological aspect of Ancestor
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 proximal promoter sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
animal organ morphogenesis IBA
Inferred from Biological aspect of Ancestor
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 development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell fate commitment IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
defense response TAS
Traceable Author Statement
more info
PubMed 
developmental growth IEA
Inferred from Electronic Annotation
more info
 
digestive tract development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
heart development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 by RNA polymerase II 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 by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II 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 hematopoietic stem cell differentiation TAS
Traceable Author Statement
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 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
 
tissue development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription by RNA polymerase II 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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, ENST00000379328.8, 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, ENST00000346208.4, 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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    8045420..8075201
    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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