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Search Result

Gene id

2625

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 (8045420: 8075200) 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 this gene are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia. [provided by RefSeq, Nov 2009]

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: 47,916

Tissue specificity: T-cells and endothelial cells.

Sequence

MEVTADQPRWVSHHHPAVLNGQHPDTHHPGLSHSYMDAAQYPLPEEVDVLFNIDGQGNHVPPYYGNSVRATVQRY
PPTHHGSQVCRPPLLHGSLPWLDGGKALGSHHTASPWNLSPFSKTSIHHGSPGPLSVYPPASSSSLSGGHASPHL
FTFPPTPPKDVSPDPSLSTPGSAGSARQDEKECLKYQVPLPDSMKLESSHSRGSMTALGGASSSTHHPITTYPPY
VPEYSSGLFPPSSLLGGSPTGFGCKSRPKARSSTGRECVNCGATSTPLWRRDGTGHYLCNACGLYHKMNGQNRPL
IKPKRRLSAARRAGTSCANCQTTTTTLWRRNANGDPVCNACGLYYKLHNINRPLTMKKEGIQTRNRKMSSKSKKC
KKVHDSLEDFPKNSSFNPAALSRHMSSLSHISPFSHSSHMLTTPTPMHPPSSLSFGPHHPSSMVTAMG

Structural information

Motifs	YxKxHxxxRP. {ECO:0000250}.(344-353)
Interpro:	IPR029521 IPR016374 IPR000679 IPR013088
Prosite:	PS00344 PS50114
Pfam:	PF00320
PDB:	4HC7 4HC9 4HCA
PDBsum:	4HC7 4HC9 4HCA
DIP:	61302
MINT:	4721003
STRING:	ENSP00000368632;

Other Databases

GeneCards: GATA3; Malacards: GATA3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0000790	nuclear chromatin	IDA	cellular_component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular_function
GO:0000977	RNA polymerase II regulat ory region sequence-speci fic DNA binding	IBA	molecular_function
GO:0000979	RNA polymerase II core pr omoter sequence-specific DNA binding	IEA	molecular_function
GO:0000987	core promoter proximal re gion sequence-specific DN A binding	IDA	molecular_function
GO:0001046	core promoter sequence-sp ecific DNA binding	IDA	molecular_function
GO:0001071	nucleic acid binding tran scription factor activity	IDA	molecular_function
GO:0001071	nucleic acid binding tran scription factor activity	IMP	molecular_function
GO:0001071	nucleic acid binding tran scription factor activity	IDA	molecular_function
GO:0001071	nucleic acid binding tran scription factor activity	IDA	molecular_function
GO:0001071	nucleic acid binding tran scription factor activity	IMP	molecular_function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IEA	molecular_function
GO:0001078	transcriptional repressor activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IMP	molecular_function
GO:0001085	RNA polymerase II transcr iption factor binding	IBA	molecular_function
GO:0001158	enhancer sequence-specifi c DNA binding	IEA	molecular_function
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulat ory region sequence-speci fic binding	IBA	molecular_function
GO:0001701	in utero embryonic develo pment	IEA	biological_process
GO:0001709	cell fate determination	ISS	biological_process
GO:0001764	neuron migration	IEA	biological_process
GO:0001806	type IV hypersensitivity	IEA	biological_process
GO:0001822	kidney development	IMP	biological_process
GO:0001822	kidney development	IMP	biological_process
GO:0001823	mesonephros development	ISS	biological_process
GO:0002088	lens development in camer a-type eye	IEA	biological_process
GO:0002572	pro-T cell differentiatio n	IEA	biological_process
GO:0003180	aortic valve morphogenesi s	ISS	biological_process
GO:0003215	cardiac right ventricle m orphogenesis	ISS	biological_process
GO:0003281	ventricular septum develo pment	ISS	biological_process
GO:0003677	DNA binding	TAS	molecular_function
GO:0003682	chromatin binding	IBA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0003713	transcription coactivator activity	IDA	molecular_function
GO:0005134	interleukin-2 receptor bi nding	IEA	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:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005667	transcription factor comp lex	IBA	cellular_component
GO:0005730	nucleolus	IDA	cellular_component
GO:0006338	chromatin remodeling	IEA	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	IEA	biological_process
GO:0006952	defense response	TAS	biological_process
GO:0006959	humoral immune response	IEA	biological_process
GO:0007165	signal transduction	ISS	biological_process
GO:0007411	axon guidance	IEA	biological_process
GO:0007507	heart development	IBA	biological_process
GO:0007596	blood coagulation	TAS	biological_process
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0008270	zinc ion binding	IEA	molecular_function
GO:0008285	negative regulation of ce ll proliferation	ISS	biological_process
GO:0008584	male gonad development	ISS	biological_process
GO:0009615	response to virus	IEP	biological_process
GO:0009653	anatomical structure morp hogenesis	TAS	biological_process
GO:0009791	post-embryonic developmen t	IEA	biological_process
GO:0009887	animal organ morphogenesi s	IBA	biological_process
GO:0009967	positive regulation of si gnal transduction	IMP	biological_process
GO:0010332	response to gamma radiati on	IEA	biological_process
GO:0010595	positive regulation of en dothelial cell migration	IMP	biological_process
GO:0010975	regulation of neuron proj ection development	IEA	biological_process
GO:0014065	phosphatidylinositol 3-ki nase signaling	ISS	biological_process
GO:0030218	erythrocyte differentiati on	IEA	biological_process
GO:0031929	TOR signaling	ISS	biological_process
GO:0032689	negative regulation of in terferon-gamma production	IEA	biological_process
GO:0032703	negative regulation of in terleukin-2 production	IEA	biological_process
GO:0032753	positive regulation of in terleukin-4 production	ISS	biological_process
GO:0033600	negative regulation of ma mmary gland epithelial ce ll proliferation	IDA	biological_process
GO:0035162	embryonic hemopoiesis	IEA	biological_process
GO:0035457	cellular response to inte rferon-alpha	IEP	biological_process
GO:0035799	ureter maturation	IEA	biological_process
GO:0035898	parathyroid hormone secre tion	IEA	biological_process
GO:0042035	regulation of cytokine bi osynthetic process	ISS	biological_process
GO:0042421	norepinephrine biosynthet ic process	ISS	biological_process
GO:0042472	inner ear morphogenesis	IEA	biological_process
GO:0042493	response to drug	IEA	biological_process
GO:0043370	regulation of CD4-positiv e, alpha-beta T cell diff erentiation	IEA	biological_process
GO:0043523	regulation of neuron apop totic process	IEA	biological_process
GO:0043583	ear development	IMP	biological_process
GO:0043583	ear development	IMP	biological_process
GO:0043627	response to estrogen	IEP	biological_process
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0045061	thymic T cell selection	IEA	biological_process
GO:0045064	T-helper 2 cell different iation	IEA	biological_process
GO:0045087	innate immune response	IEA	biological_process
GO:0045165	cell fate commitment	IBA	biological_process
GO:0045471	response to ethanol	IEA	biological_process
GO:0045582	positive regulation of T cell differentiation	ISS	biological_process
GO:0045599	negative regulation of fa t cell differentiation	IMP	biological_process
GO:0045786	negative regulation of ce ll cycle	IMP	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0046983	protein dimerization acti vity	IEA	molecular_function
GO:0048469	cell maturation	IEA	biological_process
GO:0048485	sympathetic nervous syste m development	ISS	biological_process
GO:0048538	thymus development	IEA	biological_process
GO:0048565	digestive tract developme nt	IBA	biological_process
GO:0048589	developmental growth	IEA	biological_process
GO:0048646	anatomical structure form ation involved in morphog enesis	ISS	biological_process
GO:0048646	anatomical structure form ation involved in morphog enesis	IBA	biological_process
GO:0050728	negative regulation of in flammatory response	IMP	biological_process
GO:0050852	T cell receptor signaling pathway	ISS	biological_process
GO:0051569	regulation of histone H3- K4 methylation	IEA	biological_process
GO:0051897	positive regulation of pr otein kinase B signaling	IMP	biological_process
GO:0060017	parathyroid gland develop ment	IEA	biological_process
GO:0060037	pharyngeal system develop ment	ISS	biological_process
GO:0060065	uterus development	ISS	biological_process
GO:0060231	mesenchymal to epithelial transition	IDA	biological_process
GO:0060374	mast cell differentiation	IEA	biological_process
GO:0060676	ureteric bud formation	ISS	biological_process
GO:0061085	regulation of histone H3- K27 methylation	IEA	biological_process
GO:0061290	canonical Wnt signaling p athway involved in metane phric kidney development	ISS	biological_process
GO:0070888	E-box binding	IDA	molecular_function
GO:0071353	cellular response to inte rleukin-4	IEP	biological_process
GO:0071356	cellular response to tumo r necrosis factor	IEP	biological_process
GO:0071442	positive regulation of hi stone H3-K14 acetylation	IEA	biological_process
GO:0071599	otic vesicle development	IEA	biological_process
GO:0071773	cellular response to BMP stimulus	IEA	biological_process
GO:0071837	HMG box domain binding	IPI	molecular_function
GO:0072107	positive regulation of ur eteric bud formation	ISS	biological_process
GO:0072178	nephric duct morphogenesi s	ISS	biological_process
GO:0072179	nephric duct formation	ISS	biological_process
GO:0072182	regulation of nephron tub ule epithelial cell diffe rentiation	ISS	biological_process
GO:0072602	interleukin-4 secretion	IEA	biological_process
GO:0072643	interferon-gamma secretio n	IEA	biological_process
GO:0072676	lymphocyte migration	IDA	biological_process
GO:1901536	negative regulation of DN A demethylation	IEA	biological_process
GO:2000114	regulation of establishme nt of cell polarity	IEA	biological_process
GO:2000146	negative regulation of ce ll motility	IMP	biological_process
GO:2000352	negative regulation of en dothelial cell apoptotic process	IMP	biological_process
GO:2000553	positive regulation of T- helper 2 cell cytokine pr oduction	IEA	biological_process
GO:2000607	negative regulation of ce ll proliferation involved in mesonephros developme nt	ISS	biological_process
GO:2000611	positive regulation of th yroid hormone generation	IMP	biological_process
GO:2000611	positive regulation of th yroid hormone generation	IMP	biological_process
GO:2000617	positive regulation of hi stone H3-K9 acetylation	IEA	biological_process
GO:2000664	positive regulation of in terleukin-5 secretion	IDA	biological_process
GO:2000667	positive regulation of in terleukin-13 secretion	IMP	biological_process
GO:2000667	positive regulation of in terleukin-13 secretion	IDA	biological_process
GO:2000679	positive regulation of tr anscription regulatory re gion DNA binding	IMP	biological_process
GO:2000683	regulation of cellular re sponse to X-ray	IMP	biological_process
GO:2000703	negative regulation of fi broblast growth factor re ceptor signaling pathway involved in ureteric bud formation	ISS	biological_process
GO:2000734	negative regulation of gl ial cell-derived neurotro phic factor receptor sign aling pathway involved in ureteric bud formation	ISS	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0000790	nuclear chromatin	IDA	cellular_component
GO:0000902	cell morphogenesis	IEA	biological_process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IEA	molecular_function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular_function
GO:0000977	RNA polymerase II regulat ory region sequence-speci fic DNA binding	IEA	molecular_function
GO:0000977	RNA polymerase II regulat ory region sequence-speci fic DNA binding	IBA	molecular_function
GO:0000979	RNA polymerase II core pr omoter sequence-specific DNA binding	IEA	molecular_function
GO:0000987	core promoter proximal re gion sequence-specific DN A binding	IDA	molecular_function
GO:0001046	core promoter sequence-sp ecific DNA binding	IDA	molecular_function
GO:0001071	nucleic acid binding tran scription factor activity	IDA	molecular_function
GO:0001071	nucleic acid binding tran scription factor activity	IMP	molecular_function
GO:0001071	nucleic acid binding tran scription factor activity	IDA	molecular_function
GO:0001071	nucleic acid binding tran scription factor activity	IDA	molecular_function
GO:0001071	nucleic acid binding tran scription factor activity	IMP	molecular_function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IEA	molecular_function
GO:0001078	transcriptional repressor activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IMP	molecular_function
GO:0001085	RNA polymerase II transcr iption factor binding	IBA	molecular_function
GO:0001158	enhancer sequence-specifi c DNA binding	IEA	molecular_function
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulat ory region sequence-speci fic binding	IBA	molecular_function
GO:0001701	in utero embryonic develo pment	IEA	biological_process
GO:0001709	cell fate determination	IEA	biological_process
GO:0001709	cell fate determination	ISS	biological_process
GO:0001764	neuron migration	IEA	biological_process
GO:0001775	cell activation	IEA	biological_process
GO:0001806	type IV hypersensitivity	IEA	biological_process
GO:0001819	positive regulation of cy tokine production	IEA	biological_process
GO:0001822	kidney development	IMP	biological_process
GO:0001822	kidney development	IMP	biological_process
GO:0001823	mesonephros development	IEA	biological_process
GO:0001823	mesonephros development	ISS	biological_process
GO:0002088	lens development in camer a-type eye	IEA	biological_process
GO:0002376	immune system process	IEA	biological_process
GO:0002572	pro-T cell differentiatio n	IEA	biological_process
GO:0003180	aortic valve morphogenesi s	IEA	biological_process
GO:0003180	aortic valve morphogenesi s	ISS	biological_process
GO:0003215	cardiac right ventricle m orphogenesis	IEA	biological_process
GO:0003215	cardiac right ventricle m orphogenesis	ISS	biological_process
GO:0003281	ventricular septum develo pment	IEA	biological_process
GO:0003281	ventricular septum develo pment	ISS	biological_process
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	TAS	molecular_function
GO:0003682	chromatin binding	IBA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0003713	transcription coactivator activity	IEA	molecular_function
GO:0003713	transcription coactivator activity	IDA	molecular_function
GO:0005134	interleukin-2 receptor bi nding	IEA	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:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005667	transcription factor comp lex	IBA	cellular_component
GO:0005730	nucleolus	IDA	cellular_component
GO:0006338	chromatin remodeling	IEA	biological_process
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	IEA	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	IEA	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	TAS	biological_process
GO:0006952	defense response	TAS	biological_process
GO:0006959	humoral immune response	IEA	biological_process
GO:0007165	signal transduction	IEA	biological_process
GO:0007165	signal transduction	ISS	biological_process
GO:0007399	nervous system developmen t	IEA	biological_process
GO:0007411	axon guidance	IEA	biological_process
GO:0007507	heart development	IBA	biological_process
GO:0007596	blood coagulation	TAS	biological_process
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0008270	zinc ion binding	IEA	molecular_function
GO:0008285	negative regulation of ce ll proliferation	IEA	biological_process
GO:0008285	negative regulation of ce ll proliferation	ISS	biological_process
GO:0008584	male gonad development	IEA	biological_process
GO:0008584	male gonad development	ISS	biological_process
GO:0009615	response to virus	IEP	biological_process
GO:0009653	anatomical structure morp hogenesis	TAS	biological_process
GO:0009791	post-embryonic developmen t	IEA	biological_process
GO:0009887	animal organ morphogenesi s	IBA	biological_process
GO:0009967	positive regulation of si gnal transduction	IMP	biological_process
GO:0010332	response to gamma radiati on	IEA	biological_process
GO:0010595	positive regulation of en dothelial cell migration	IMP	biological_process
GO:0010628	positive regulation of ge ne expression	IEA	biological_process
GO:0010629	negative regulation of ge ne expression	IEA	biological_process
GO:0010975	regulation of neuron proj ection development	IEA	biological_process
GO:0014065	phosphatidylinositol 3-ki nase signaling	IEA	biological_process
GO:0014065	phosphatidylinositol 3-ki nase signaling	ISS	biological_process
GO:0030182	neuron differentiation	IEA	biological_process
GO:0030217	T cell differentiation	IEA	biological_process
GO:0030218	erythrocyte differentiati on	IEA	biological_process
GO:0031929	TOR signaling	IEA	biological_process
GO:0031929	TOR signaling	ISS	biological_process
GO:0032689	negative regulation of in terferon-gamma production	IEA	biological_process
GO:0032703	negative regulation of in terleukin-2 production	IEA	biological_process
GO:0032736	positive regulation of in terleukin-13 production	IEA	biological_process
GO:0032753	positive regulation of in terleukin-4 production	IEA	biological_process
GO:0032753	positive regulation of in terleukin-4 production	ISS	biological_process
GO:0032754	positive regulation of in terleukin-5 production	IEA	biological_process
GO:0033077	T cell differentiation in thymus	IEA	biological_process
GO:0033600	negative regulation of ma mmary gland epithelial ce ll proliferation	IDA	biological_process
GO:0035162	embryonic hemopoiesis	IEA	biological_process
GO:0035457	cellular response to inte rferon-alpha	IEP	biological_process
GO:0035799	ureter maturation	IEA	biological_process
GO:0035898	parathyroid hormone secre tion	IEA	biological_process
GO:0042035	regulation of cytokine bi osynthetic process	IEA	biological_process
GO:0042035	regulation of cytokine bi osynthetic process	ISS	biological_process
GO:0042421	norepinephrine biosynthet ic process	IEA	biological_process
GO:0042421	norepinephrine biosynthet ic process	ISS	biological_process
GO:0042472	inner ear morphogenesis	IEA	biological_process
GO:0042493	response to drug	IEA	biological_process
GO:0043370	regulation of CD4-positiv e, alpha-beta T cell diff erentiation	IEA	biological_process
GO:0043523	regulation of neuron apop totic process	IEA	biological_process
GO:0043565	sequence-specific DNA bin ding	IEA	molecular_function
GO:0043565	sequence-specific DNA bin ding	IEA	molecular_function
GO:0043583	ear development	IMP	biological_process
GO:0043583	ear development	IMP	biological_process
GO:0043627	response to estrogen	IEP	biological_process
GO:0044212	transcription regulatory region DNA binding	IEA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0045061	thymic T cell selection	IEA	biological_process
GO:0045064	T-helper 2 cell different iation	IEA	biological_process
GO:0045087	innate immune response	IEA	biological_process
GO:0045165	cell fate commitment	IBA	biological_process
GO:0045471	response to ethanol	IEA	biological_process
GO:0045582	positive regulation of T cell differentiation	IEA	biological_process
GO:0045582	positive regulation of T cell differentiation	IEA	biological_process
GO:0045582	positive regulation of T cell differentiation	ISS	biological_process
GO:0045597	positive regulation of ce ll differentiation	IEA	biological_process
GO:0045599	negative regulation of fa t cell differentiation	IMP	biological_process
GO:0045786	negative regulation of ce ll cycle	IEA	biological_process
GO:0045786	negative regulation of ce ll cycle	IMP	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IEA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0046983	protein dimerization acti vity	IEA	molecular_function
GO:0048469	cell maturation	IEA	biological_process
GO:0048485	sympathetic nervous syste m development	IEA	biological_process
GO:0048485	sympathetic nervous syste m development	ISS	biological_process
GO:0048538	thymus development	IEA	biological_process
GO:0048565	digestive tract developme nt	IBA	biological_process
GO:0048568	embryonic organ developme nt	IEA	biological_process
GO:0048589	developmental growth	IEA	biological_process
GO:0048646	anatomical structure form ation involved in morphog enesis	IEA	biological_process
GO:0048646	anatomical structure form ation involved in morphog enesis	ISS	biological_process
GO:0048646	anatomical structure form ation involved in morphog enesis	IBA	biological_process
GO:0048872	homeostasis of number of cells	IEA	biological_process
GO:0050728	negative regulation of in flammatory response	IMP	biological_process
GO:0050852	T cell receptor signaling pathway	IEA	biological_process
GO:0050852	T cell receptor signaling pathway	ISS	biological_process
GO:0051569	regulation of histone H3- K4 methylation	IEA	biological_process
GO:0051897	positive regulation of pr otein kinase B signaling	IMP	biological_process
GO:0060017	parathyroid gland develop ment	IEA	biological_process
GO:0060037	pharyngeal system develop ment	IEA	biological_process
GO:0060037	pharyngeal system develop ment	ISS	biological_process
GO:0060065	uterus development	IEA	biological_process
GO:0060065	uterus development	ISS	biological_process
GO:0060231	mesenchymal to epithelial transition	IDA	biological_process
GO:0060374	mast cell differentiation	IEA	biological_process
GO:0060676	ureteric bud formation	IEA	biological_process
GO:0060676	ureteric bud formation	ISS	biological_process
GO:0061085	regulation of histone H3- K27 methylation	IEA	biological_process
GO:0061290	canonical Wnt signaling p athway involved in metane phric kidney development	IEA	biological_process
GO:0061290	canonical Wnt signaling p athway involved in metane phric kidney development	ISS	biological_process
GO:0070888	E-box binding	IDA	molecular_function
GO:0071345	cellular response to cyto kine stimulus	IEA	biological_process
GO:0071353	cellular response to inte rleukin-4	IEA	biological_process
GO:0071353	cellular response to inte rleukin-4	IEP	biological_process
GO:0071356	cellular response to tumo r necrosis factor	IEP	biological_process
GO:0071442	positive regulation of hi stone H3-K14 acetylation	IEA	biological_process
GO:0071599	otic vesicle development	IEA	biological_process
GO:0071773	cellular response to BMP stimulus	IEA	biological_process
GO:0071837	HMG box domain binding	IPI	molecular_function
GO:0072001	renal system development	IEA	biological_process
GO:0072107	positive regulation of ur eteric bud formation	IEA	biological_process
GO:0072107	positive regulation of ur eteric bud formation	ISS	biological_process
GO:0072178	nephric duct morphogenesi s	IEA	biological_process
GO:0072178	nephric duct morphogenesi s	ISS	biological_process
GO:0072179	nephric duct formation	IEA	biological_process
GO:0072179	nephric duct formation	ISS	biological_process
GO:0072182	regulation of nephron tub ule epithelial cell diffe rentiation	IEA	biological_process
GO:0072182	regulation of nephron tub ule epithelial cell diffe rentiation	ISS	biological_process
GO:0072602	interleukin-4 secretion	IEA	biological_process
GO:0072643	interferon-gamma secretio n	IEA	biological_process
GO:0072676	lymphocyte migration	IDA	biological_process
GO:1901536	negative regulation of DN A demethylation	IEA	biological_process
GO:2000114	regulation of establishme nt of cell polarity	IEA	biological_process
GO:2000146	negative regulation of ce ll motility	IMP	biological_process
GO:2000352	negative regulation of en dothelial cell apoptotic process	IMP	biological_process
GO:2000553	positive regulation of T- helper 2 cell cytokine pr oduction	IEA	biological_process
GO:2000607	negative regulation of ce ll proliferation involved in mesonephros developme nt	IEA	biological_process
GO:2000607	negative regulation of ce ll proliferation involved in mesonephros developme nt	ISS	biological_process
GO:2000611	positive regulation of th yroid hormone generation	IMP	biological_process
GO:2000611	positive regulation of th yroid hormone generation	IMP	biological_process
GO:2000617	positive regulation of hi stone H3-K9 acetylation	IEA	biological_process
GO:2000664	positive regulation of in terleukin-5 secretion	IDA	biological_process
GO:2000667	positive regulation of in terleukin-13 secretion	IMP	biological_process
GO:2000667	positive regulation of in terleukin-13 secretion	IDA	biological_process
GO:2000679	positive regulation of tr anscription regulatory re gion DNA binding	IEA	biological_process
GO:2000679	positive regulation of tr anscription regulatory re gion DNA binding	IMP	biological_process
GO:2000683	regulation of cellular re sponse to X-ray	IMP	biological_process
GO:2000703	negative regulation of fi broblast growth factor re ceptor signaling pathway involved in ureteric bud formation	IEA	biological_process
GO:2000703	negative regulation of fi broblast growth factor re ceptor signaling pathway involved in ureteric bud formation	ISS	biological_process
GO:2000734	negative regulation of gl ial cell-derived neurotro phic factor receptor sign aling pathway involved in ureteric bud formation	IEA	biological_process
GO:2000734	negative regulation of gl ial cell-derived neurotro phic factor receptor sign aling pathway involved in ureteric bud formation	ISS	biological_process
GO:0000790	nuclear chromatin	IDA	cellular_component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular_function
GO:0000977	RNA polymerase II regulat ory region sequence-speci fic DNA binding	IBA	molecular_function
GO:0000987	core promoter proximal re gion sequence-specific DN A binding	IDA	molecular_function
GO:0001046	core promoter sequence-sp ecific DNA binding	IDA	molecular_function
GO:0001071	nucleic acid binding tran scription factor activity	IDA	molecular_function
GO:0001071	nucleic acid binding tran scription factor activity	IMP	molecular_function
GO:0001071	nucleic acid binding tran scription factor activity	IDA	molecular_function
GO:0001071	nucleic acid binding tran scription factor activity	IDA	molecular_function
GO:0001071	nucleic acid binding tran scription factor activity	IMP	molecular_function
GO:0001078	transcriptional repressor activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IMP	molecular_function
GO:0001085	RNA polymerase II transcr iption factor binding	IBA	molecular_function
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulat ory region sequence-speci fic binding	IBA	molecular_function
GO:0001709	cell fate determination	ISS	biological_process
GO:0001822	kidney development	IMP	biological_process
GO:0001822	kidney development	IMP	biological_process
GO:0001823	mesonephros development	ISS	biological_process
GO:0003180	aortic valve morphogenesi s	ISS	biological_process
GO:0003215	cardiac right ventricle m orphogenesis	ISS	biological_process
GO:0003281	ventricular septum develo pment	ISS	biological_process
GO:0003677	DNA binding	TAS	molecular_function
GO:0003682	chromatin binding	IBA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0003713	transcription coactivator activity	IDA	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:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005667	transcription factor comp lex	IBA	cellular_component
GO:0005730	nucleolus	IDA	cellular_component
GO:0006366	transcription from RNA po lymerase II promoter	TAS	biological_process
GO:0006952	defense response	TAS	biological_process
GO:0007165	signal transduction	ISS	biological_process
GO:0007507	heart development	IBA	biological_process
GO:0007596	blood coagulation	TAS	biological_process
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0008285	negative regulation of ce ll proliferation	ISS	biological_process
GO:0008584	male gonad development	ISS	biological_process
GO:0009615	response to virus	IEP	biological_process
GO:0009653	anatomical structure morp hogenesis	TAS	biological_process
GO:0009887	animal organ morphogenesi s	IBA	biological_process
GO:0009967	positive regulation of si gnal transduction	IMP	biological_process
GO:0010595	positive regulation of en dothelial cell migration	IMP	biological_process
GO:0014065	phosphatidylinositol 3-ki nase signaling	ISS	biological_process
GO:0031929	TOR signaling	ISS	biological_process
GO:0032753	positive regulation of in terleukin-4 production	ISS	biological_process
GO:0033600	negative regulation of ma mmary gland epithelial ce ll proliferation	IDA	biological_process
GO:0035457	cellular response to inte rferon-alpha	IEP	biological_process
GO:0042035	regulation of cytokine bi osynthetic process	ISS	biological_process
GO:0042421	norepinephrine biosynthet ic process	ISS	biological_process
GO:0043583	ear development	IMP	biological_process
GO:0043583	ear development	IMP	biological_process
GO:0043627	response to estrogen	IEP	biological_process
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0045165	cell fate commitment	IBA	biological_process
GO:0045582	positive regulation of T cell differentiation	ISS	biological_process
GO:0045599	negative regulation of fa t cell differentiation	IMP	biological_process
GO:0045786	negative regulation of ce ll cycle	IMP	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0048485	sympathetic nervous syste m development	ISS	biological_process
GO:0048565	digestive tract developme nt	IBA	biological_process
GO:0048646	anatomical structure form ation involved in morphog enesis	ISS	biological_process
GO:0048646	anatomical structure form ation involved in morphog enesis	IBA	biological_process
GO:0050728	negative regulation of in flammatory response	IMP	biological_process
GO:0050852	T cell receptor signaling pathway	ISS	biological_process
GO:0051897	positive regulation of pr otein kinase B signaling	IMP	biological_process
GO:0060037	pharyngeal system develop ment	ISS	biological_process
GO:0060065	uterus development	ISS	biological_process
GO:0060231	mesenchymal to epithelial transition	IDA	biological_process
GO:0060676	ureteric bud formation	ISS	biological_process
GO:0061290	canonical Wnt signaling p athway involved in metane phric kidney development	ISS	biological_process
GO:0070888	E-box binding	IDA	molecular_function
GO:0071353	cellular response to inte rleukin-4	IEP	biological_process
GO:0071356	cellular response to tumo r necrosis factor	IEP	biological_process
GO:0071837	HMG box domain binding	IPI	molecular_function
GO:0072107	positive regulation of ur eteric bud formation	ISS	biological_process
GO:0072178	nephric duct morphogenesi s	ISS	biological_process
GO:0072179	nephric duct formation	ISS	biological_process
GO:0072182	regulation of nephron tub ule epithelial cell diffe rentiation	ISS	biological_process
GO:0072676	lymphocyte migration	IDA	biological_process
GO:2000146	negative regulation of ce ll motility	IMP	biological_process
GO:2000352	negative regulation of en dothelial cell apoptotic process	IMP	biological_process
GO:2000607	negative regulation of ce ll proliferation involved in mesonephros developme nt	ISS	biological_process
GO:2000611	positive regulation of th yroid hormone generation	IMP	biological_process
GO:2000611	positive regulation of th yroid hormone generation	IMP	biological_process
GO:2000664	positive regulation of in terleukin-5 secretion	IDA	biological_process
GO:2000667	positive regulation of in terleukin-13 secretion	IMP	biological_process
GO:2000667	positive regulation of in terleukin-13 secretion	IDA	biological_process
GO:2000679	positive regulation of tr anscription regulatory re gion DNA binding	IMP	biological_process
GO:2000683	regulation of cellular re sponse to X-ray	IMP	biological_process
GO:2000703	negative regulation of fi broblast growth factor re ceptor signaling pathway involved in ureteric bud formation	ISS	biological_process
GO:2000734	negative regulation of gl ial cell-derived neurotro phic factor receptor sign aling pathway involved in ureteric bud formation	ISS	biological_process

KEGG pathways

hsa04659  Th17 cell differentiation
hsa05321  Inflammatory bowel disease
hsa04658  Th1 and Th2 cell differentiation

Diseases

Associated diseases	References
Allergic rhinitis	KEGG: H01360, PMID: 18607915
Asthma	PMID: 15637551
Cancer	PMID: 19176441
Chronic obstructive pulmonary disease (COPD)	PMID: 19625176
Dermatitis	PMID: 18410415
Endometriosis	PMID: 22356900
Hypersensitivity	PMID: 19342088
Hypoparathyroidism	KEGG: H01271, OMIM: 131320
Endometriosis	INFBASE22356900

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
22356900	Endometrio sis			40 (20 women wi th laparoscopic ally confirmed endometriosis, 20 women withou t endometriosis )		T-bet GATA-3	Show abstract