• Gene id: 2625

Gene Summary

• Gene Symbol: GATA3   Gene   UCSC   Ensembl
• Aliases: HDR, HDRS
• Gene name: GATA binding protein 3
• Alternate names: trans-acting T-cell-specific transcription factor GATA-3, GATA-binding factor 3,
• Gene location: 10p14 (8045419: 8075197)     Exons: 8     NC_000010.11
• Gene summary(Entrez): 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
• OMIM: 131320

Protein Summary

• Protein general information: P23771  
  • Name: Trans acting T cell specific transcription factor GATA 3 (GATA binding factor 3)
  • Length: 443  
  • Mass: 47916
  • Tissue specificity: T-cells and endothelial cells.
• Sequence:

  MEVTADQPRWVSHHHPAVLNGQHPDTHHPGLSHSYMDAAQYPLPEEVDVLFNIDGQGNHVPPYYGNSVRATVQRY
  PPTHHGSQVCRPPLLHGSLPWLDGGKALGSHHTASPWNLSPFSKTSIHHGSPGPLSVYPPASSSSLSGGHASPHL
  FTFPPTPPKDVSPDPSLSTPGSAGSARQDEKECLKYQVPLPDSMKLESSHSRGSMTALGGASSSTHHPITTYPPY
  VPEYSSGLFPPSSLLGGSPTGFGCKSRPKARSSTGRECVNCGATSTPLWRRDGTGHYLCNACGLYHKMNGQNRPL
  IKPKRRLSAARRAGTSCANCQTTTTTLWRRNANGDPVCNACGLYYKLHNINRPLTMKKEGIQTRNRKMSSKSKKC
  KKVHDSLEDFPKNSSFNPAALSRHMSSLSHISPFSHSSHMLTTPTPMHPPSSLSFGPHHPSSMVTAMG

• Structural information:
  • Interpro: IPR029521  IPR016374  IPR039355  IPR000679  IPR013088  
  • Prosite: PS00344 PS50114
  • CDD: cd00202
  • PDB: 4HC7 4HC9 4HCA
  • PDBsum: 4HC7 4HC9 4HCA
  • DIP: 61302
  • STRING: ENSP00000368632
• Other Databases: GeneCards:  GATA3  Malacards:  GATA3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0048568	embryonic organ development	IBA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0002520	immune system development	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0030856	regulation of epithelial cell differentiation	IBA	biological process
GO:0045165	cell fate commitment	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045582	positive regulation of T cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0006952	defense response	TAS	biological process
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0016579	protein deubiquitination	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0007596	blood coagulation	TAS	biological process
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:1902036	regulation of hematopoietic stem cell differentiation	TAS	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000703	negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation	IEA	biological process
GO:2000679	positive regulation of transcription regulatory region DNA binding	IEA	biological process
GO:2000607	negative regulation of cell proliferation involved in mesonephros development	IEA	biological process
GO:2000114	regulation of establishment of cell polarity	IEA	biological process
GO:1901536	negative regulation of DNA demethylation	IEA	biological process
GO:0072643	interferon-gamma secretion	IEA	biological process
GO:0072602	interleukin-4 secretion	IEA	biological process
GO:0072179	nephric duct formation	IEA	biological process
GO:0072178	nephric duct morphogenesis	IEA	biological process
GO:0071773	cellular response to BMP stimulus	IEA	biological process
GO:0071442	positive regulation of histone H3-K14 acetylation	IEA	biological process
GO:0061085	regulation of histone H3-K27 methylation	IEA	biological process
GO:0060374	mast cell differentiation	IEA	biological process
GO:0060017	parathyroid gland development	IEA	biological process
GO:0048646	anatomical structure formation involved in morphogenesis	IEA	biological process
GO:0048538	thymus development	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045597	positive regulation of cell differentiation	IEA	biological process
GO:0045582	positive regulation of T cell differentiation	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043523	regulation of neuron apoptotic process	IEA	biological process
GO:0042472	inner ear morphogenesis	IEA	biological process
GO:0042035	regulation of cytokine biosynthetic process	IEA	biological process
GO:0035898	parathyroid hormone secretion	IEA	biological process
GO:0032753	positive regulation of interleukin-4 production	IEA	biological process
GO:0032703	negative regulation of interleukin-2 production	IEA	biological process
GO:0030218	erythrocyte differentiation	IEA	biological process
GO:0014065	phosphatidylinositol 3-kinase signaling	IEA	biological process
GO:0010975	regulation of neuron projection development	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0006959	humoral immune response	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0002572	pro-T cell differentiation	IEA	biological process
GO:0002088	lens development in camera-type eye	IEA	biological process
GO:0001823	mesonephros development	IEA	biological process
GO:0001819	positive regulation of cytokine production	IEA	biological process
GO:0001764	neuron migration	IEA	biological process
GO:0001709	cell fate determination	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000902	cell morphogenesis	IEA	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0010332	response to gamma radiation	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:2000734	negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation	IEA	biological process
GO:2000617	positive regulation of histone H3-K9 acetylation	IEA	biological process
GO:2000553	positive regulation of T-helper 2 cell cytokine production	IEA	biological process
GO:0072197	ureter morphogenesis	IEA	biological process
GO:0072182	regulation of nephron tubule epithelial cell differentiation	IEA	biological process
GO:0072107	positive regulation of ureteric bud formation	IEA	biological process
GO:0071599	otic vesicle development	IEA	biological process
GO:0071353	cellular response to interleukin-4	IEA	biological process
GO:0071345	cellular response to cytokine stimulus	IEA	biological process
GO:0061290	canonical Wnt signaling pathway involved in metanephric kidney development	IEA	biological process
GO:0060676	ureteric bud formation	IEA	biological process
GO:0060065	uterus development	IEA	biological process
GO:0060037	pharyngeal system development	IEA	biological process
GO:0051569	regulation of histone H3-K4 methylation	IEA	biological process
GO:0050852	T cell receptor signaling pathway	IEA	biological process
GO:0048872	homeostasis of number of cells	IEA	biological process
GO:0048589	developmental growth	IEA	biological process
GO:0048568	embryonic organ development	IEA	biological process
GO:0048485	sympathetic nervous system development	IEA	biological process
GO:0048469	cell maturation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045786	negative regulation of cell cycle	IEA	biological process
GO:0045064	T-helper 2 cell differentiation	IEA	biological process
GO:0045061	thymic T cell selection	IEA	biological process
GO:0043370	regulation of CD4-positive, alpha-beta T cell differentiation	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0042421	norepinephrine biosynthetic process	IEA	biological process
GO:0035799	ureter maturation	IEA	biological process
GO:0035162	embryonic hemopoiesis	IEA	biological process
GO:0033077	T cell differentiation in thymus	IEA	biological process
GO:0032754	positive regulation of interleukin-5 production	IEA	biological process
GO:0032736	positive regulation of interleukin-13 production	IEA	biological process
GO:0032689	negative regulation of interferon-gamma production	IEA	biological process
GO:0031929	TOR signaling	IEA	biological process
GO:0030217	T cell differentiation	IEA	biological process
GO:0030182	neuron differentiation	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0006338	chromatin remodeling	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005134	interleukin-2 receptor binding	IEA	molecular function
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:0003712	transcription coregulator activity	IEA	molecular function
GO:0003281	ventricular septum development	IEA	biological process
GO:0003215	cardiac right ventricle morphogenesis	IEA	biological process
GO:0003180	aortic valve morphogenesis	IEA	biological process
GO:0001775	cell activation	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0000987	cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0090102	cochlea development	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0001806	type IV hypersensitivity	IEA	biological process
GO:0070888	E-box binding	IDA	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0010719	negative regulation of epithelial to mesenchymal transition	IMP	biological process
GO:1902895	positive regulation of pri-miRNA transcription by RNA polymerase II	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	molecular function
GO:2000667	positive regulation of interleukin-13 secretion	IDA	biological process
GO:2000664	positive regulation of interleukin-5 secretion	IDA	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000987	cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0060231	mesenchymal to epithelial transition	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0072676	lymphocyte migration	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0033600	negative regulation of mammary gland epithelial cell proliferation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:2000146	negative regulation of cell motility	IMP	biological process
GO:0072179	nephric duct formation	ISS	biological process
GO:0072178	nephric duct morphogenesis	ISS	biological process
GO:0048646	anatomical structure formation involved in morphogenesis	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0042035	regulation of cytokine biosynthetic process	ISS	biological process
GO:0032753	positive regulation of interleukin-4 production	ISS	biological process
GO:0014065	phosphatidylinositol 3-kinase signaling	ISS	biological process
GO:0010595	positive regulation of endothelial cell migration	IMP	biological process
GO:0009615	response to virus	IEP	biological process
GO:0008285	negative regulation of cell population proliferation	ISS	biological process
GO:0001822	kidney development	IMP	biological process
GO:0003700	DNA-binding transcription factor activity	IMP	molecular function
GO:2000352	negative regulation of endothelial cell apoptotic process	IMP	biological process
GO:0071353	cellular response to interleukin-4	IEP	biological process
GO:0060065	uterus development	ISS	biological process
GO:0060037	pharyngeal system development	ISS	biological process
GO:0051897	positive regulation of protein kinase B signaling	IMP	biological process
GO:0050728	negative regulation of inflammatory response	IMP	biological process
GO:0048485	sympathetic nervous system development	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0043583	ear development	IMP	biological process
GO:0042421	norepinephrine biosynthetic process	ISS	biological process
GO:0035457	cellular response to interferon-alpha	IEP	biological process
GO:0009967	positive regulation of signal transduction	IMP	biological process
GO:0008584	male gonad development	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003180	aortic valve morphogenesis	ISS	biological process
GO:2000703	negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation	ISS	biological process
GO:2000683	regulation of cellular response to X-ray	IMP	biological process
GO:2000679	positive regulation of transcription regulatory region DNA binding	IMP	biological process
GO:2000667	positive regulation of interleukin-13 secretion	IMP	biological process
GO:2000611	positive regulation of thyroid hormone generation	IMP	biological process
GO:2000611	positive regulation of thyroid hormone generation	IMP	biological process
GO:2000607	negative regulation of cell proliferation involved in mesonephros development	ISS	biological process
GO:0071837	HMG box domain binding	IPI	molecular function
GO:0071356	cellular response to tumor necrosis factor	IEP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0045599	negative regulation of fat cell differentiation	IMP	biological process
GO:0045582	positive regulation of T cell differentiation	ISS	biological process
GO:0043627	response to estrogen	IEP	biological process
GO:0007165	signal transduction	ISS	biological process
GO:0001823	mesonephros development	ISS	biological process
GO:0001822	kidney development	IMP	biological process
GO:0001709	cell fate determination	ISS	biological process
GO:0003700	DNA-binding transcription factor activity	IMP	molecular function
GO:2000734	negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation	ISS	biological process
GO:0072182	regulation of nephron tubule epithelial cell differentiation	ISS	biological process
GO:0072107	positive regulation of ureteric bud formation	ISS	biological process
GO:0061290	canonical Wnt signaling pathway involved in metanephric kidney development	ISS	biological process
GO:0060676	ureteric bud formation	ISS	biological process
GO:0050852	T cell receptor signaling pathway	ISS	biological process
GO:0045786	negative regulation of cell cycle	IMP	biological process
GO:0043583	ear development	IMP	biological process
GO:0031929	TOR signaling	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003281	ventricular septum development	ISS	biological process
GO:0003215	cardiac right ventricle morphogenesis	ISS	biological process
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IMP	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04928	Parathyroid hormone synthesis, secretion and action
hsa04659	Th17 cell differentiation
hsa04658	Th1 and Th2 cell differentiation
hsa05321	Inflammatory bowel disease

Diseases

Associated diseases	References
Allergic rhinitis	KEGG:H01360
Hypoparathyroidism with sensorineural deafness and renal dysplasia	KEGG:H01271
Allergic rhinitis	KEGG:H01360
Hypoparathyroidism with sensorineural deafness and renal dysplasia	KEGG:H01271
Sensorineural hearing loss	PMID:10935639
Hypoparathyroidism	PMID:10935639
Nephrosis	PMID:10935639
Asthma	PMID:9949310
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R