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

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: mouse all
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Genomic context

Location:: 10p14

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
109.20201120	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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Racial Differences in the Association Between Luminal Master Regulator Gene Expression Levels and Breast Cancer Survival.
Title: Racial Differences in the Association Between Luminal Master Regulator Gene Expression Levels and Breast Cancer Survival.
LncRNA GATA3-AS1 facilitates tumour progression and immune escape in triple-negative breast cancer through destabilization of GATA3 but stabilization of PD-L1.
Title: LncRNA GATA3-AS1 facilitates tumour progression and immune escape in triple-negative breast cancer through destabilization of GATA3 but stabilization of PD-L1.
The GATA3 X308_Splice breast cancer mutation is a hormone context-dependent oncogenic driver.
Title: The GATA3 X308_Splice breast cancer mutation is a hormone context-dependent oncogenic driver.
Epigenetic deregulation of GATA3 in neuroblastoma is associated with increased GATA3 protein expression and with poor outcomes.
Title: Epigenetic deregulation of GATA3 in neuroblastoma is associated with increased GATA3 protein expression and with poor outcomes.
Cooperativity of co-factor NR2F2 with Pioneer Factors GATA3, FOXA1 in promoting ERalpha function.
Title: Cooperativity of co-factor NR2F2 with Pioneer Factors GATA3, FOXA1 in promoting ERα function.
The Relationship of GATA3 and Ki-67 With Histopathological Prognostic Parameters, Locoregional Recurrence and Disease-free Survival in Invasive Ductal Carcinoma of the Breast.
Title: The Relationship of GATA3 and Ki-67 With Histopathological Prognostic Parameters, Locoregional Recurrence and Disease-free Survival in Invasive Ductal Carcinoma of the Breast.
Effects of guluronic acid, as a new NSAID with immunomodulatory properties on IL-17, RORgammat, IL-4 and GATA-3 gene expression in rheumatoid arthritis patients.
Title: Effects of guluronic acid, as a new NSAID with immunomodulatory properties on IL-17, RORγt, IL-4 and GATA-3 gene expression in rheumatoid arthritis patients.
Comprehensive analysis of the GATA transcription factor gene family in breast carcinoma using gene microarrays, online databases and integrated bioinformatics.
Title: Comprehensive analysis of the GATA transcription factor gene family in breast carcinoma using gene microarrays, online databases and integrated bioinformatics.
Cancer-specific mutation of GATA3 disrupts the transcriptional regulatory network governed by Estrogen Receptor alpha, FOXA1 and GATA3.
Title: Cancer-specific mutation of GATA3 disrupts the transcriptional regulatory network governed by Estrogen Receptor alpha, FOXA1 and GATA3.
Transient Expression of GATA3 in Hematopoietic Stem Cells Facilitates Helper Innate Lymphoid Cell Differentiation.
Title: Transient Expression of GATA3 in Hematopoietic Stem Cells Facilitates Helper Innate Lymphoid Cell Differentiation.

Submit: New GeneRIF Correction See all GeneRIFs (348)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G20258 (e-PCR)
- UniSTS:11781

A005A11 (e-PCR)
- UniSTS:11782

SHGC-34122 (e-PCR)
- UniSTS:65804

RH17471 (e-PCR)
- UniSTS:65805

GATA3_1519 (e-PCR)
- UniSTS:277271

RH78856 (e-PCR)
- UniSTS:2362

D10S2148 (e-PCR)
- UniSTS:71540

Homology

Homologs of the GATA3 gene: The GATA3 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 329 organisms have orthologs with human gene GATA3
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA binding	TAS Traceable Author Statement more info	PubMed
DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay 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
DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info	PubMed
DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
DNA-binding transcription repressor activity, RNA polymerase II-specific	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 cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
identical protein 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
sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
T cell differentiation	IDA Inferred from Direct Assay more info	PubMed
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 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
ear development	IMP Inferred from Mutant Phenotype more info	PubMed
embryonic hemopoiesis	IEA Inferred from Electronic Annotation more info
embryonic organ development	IBA Inferred from Biological aspect of Ancestor more info	PubMed
erythrocyte differentiation	IEA Inferred from Electronic Annotation more info
humoral immune response	IEA Inferred from Electronic Annotation more info
immune system development	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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
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 population 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 epithelial to mesenchymal transition	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	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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 production	IDA Inferred from Direct Assay more info	PubMed
positive regulation of interleukin-13 production	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 production	IDA Inferred from Direct Assay more info	PubMed
positive regulation of pri-miRNA transcription by RNA polymerase II	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 production	ISS Inferred from Sequence or Structural Similarity more info
regulation of epithelial cell differentiation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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
regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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
type IV hypersensitivity	IEA Inferred from Electronic Annotation more info
ureter maturation	IEA Inferred from Electronic Annotation more info
ureter morphogenesis	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
chromatin	IDA Inferred from Direct Assay more info	PubMed
chromatin	ISA Inferred from Sequence Alignment more info
nucleoplasm	IDA Inferred from Direct Assay more info
nucleoplasm	TAS Traceable Author Statement more info
nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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

Names: GATA-binding factor 3

NCBI Reference Sequences (RefSeq)

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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

NG_015859.1 RefSeqGene

Range

4985..25495

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001002295.2 → NP_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:313 → 362

ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]

cd00202
Location:317 → 367

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
NM_002051.3 → NP_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:312 → 361

ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]

cd00202
Location:316 → 366

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 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p13 Primary Assembly

Range

8045420..8075198

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005252443.5 → XP_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:313 → 362

ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]

cd00202
Location:317 → 367

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
XM_005252442.2 → XP_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:313 → 362

ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]

cd00202
Location:317 → 367

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