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28/4/2015 GATA3GATAbindingprotein3[Homosapiens(human)]GeneNCBI
http://www.ncbi.nlm.nih.gov/gene/2625 1/12
OfficialSymbolOfficialFullName
PrimarysourceSeerelatedGenetype
RefSeqstatusOrganismLineage
AlsoknownasSummary
Orthologs
GATA3 GATAbindingprotein3[Homosapiens(human)]GeneID:2625,updatedon27Apr2015
GATA3 providedbyHGNCGATAbindingprotein3 providedbyHGNCHGNC:HGNC:4172Ensembl:ENSG00000107485HPRD:00572MIM:131320Vega:OTTHUMG00000017640proteincodingREVIEWEDHomosapiensEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomoHDRHDRSThisgeneencodesaproteinwhichbelongstotheGATAfamilyoftranscriptionfactors.TheproteincontainstwoGATAtypezincfingersandisanimportantregulatorofTcelldevelopmentandplaysanimportantroleinendothelialcellbiology.Defectsinthisgenearethecauseofhypoparathyroidismwithsensorineuraldeafnessandrenaldysplasia.[providedbyRefSeq,Nov2009]mouse all
Chromosome10NC_000010.11
Gotoreferencesequencedetails
Summary
Genomiccontext
SeeGATA3inMapViewerLocation: 10p15
Exoncount: 8
Annotationrelease Status Assembly Chr Location
107 current GRCh38.p2(GCF_000001405.28)
10 NC_000010.11(8045428..8075201)
105 previousassembly
GRCh37.p13(GCF_000001405.25)
10 NC_000010.10(8087294..8117164)
Genomicregions,transcripts,andproducts
Hidesidebar>>
28/4/2015 GATA3GATAbindingprotein3[Homosapiens(human)]GeneNCBI
http://www.ncbi.nlm.nih.gov/gene/2625 2/12
Gotonucleotide: Graphics FASTA GenBank
GenomicSequence: NC_000010.11Chromosome10ReferenceGRCh38.p2PrimaryAssembly
Genes,NCBIHomosapiensAnnotationRelease107,20150313
CCDSFeatures,Release17(NCBIAnnotationRelease106comparedtoEnsemblRelease76)
Genes,Ensemblrelease79
dbSNP142(HomosapiensAnnotationRelease106)alldata
ClinVarShortVariationsbasedondbSNP142(HomosapiensAnnotationRelease106)
dbVarClinVarLargeVariations
CitedVariants,dbSNP142(HomosapiensAnnotationRelease106)
RNAseqexoncoverage,aggregate(filtered),NCBIHomosapiensAnnotationRelease107logbase2scaled
RNAseqintronspanningreads,aggregate(filtered),NCBIHomosapiensAnnotationRelease107logbase2scaled
28/4/2015 GATA3GATAbindingprotein3[Homosapiens(human)]GeneNCBI
http://www.ncbi.nlm.nih.gov/gene/2625 3/12
1. GATA3expressionintrophoblastictissues:animmunohistochemicalstudyof445cases,includingdiagnosticutility.BanetN,etal.AmJSurgPathol,2015Jan.PMID25188865,
2. DiagnosticutilityandsensitivitiesofGATA3antibodiesintriplenegativebreastcancer.KringsG,etal.HumPathol,2014Nov.PMID25150746
3. SemiquantitativeGATA3immunoreactivityinbreast,bladder,gynecologictract,andothercytokeratin7positivecarcinomas.ClarkBZ,etal.AmJClinPathol,2014Jul.PMID24926087
4. GATA3expressioninsmallcellcarcinomaofbladderandprostateanditspotentialroleindeterminingprimarytumororigin.BezerraSM,etal.HumPathol,2014Aug.PMID24925221
5. GATA3expressioninsarcomatoidurothelialcarcinomaofthebladder.FatimaN,etal.HumPathol,2014Aug.PMID24824028
Seeall(245)citationsinPubMed
SeecitationsinPubMedforhomologsofthisgeneprovidedbyHomoloGene
1. GATA3playsanimportantroleinthepreventionofbladdercancerprogressionandmetastasisbyinhibitingcellmigrationandinvasionaswellasepithelialtomesenchymaltransition.
2. GATA3immunohistochemistryisavaluableadditioninthediscriminationofcysticoroncocyticparathyroidlesions
3. MafbisresponsibleforexecutingonebranchoftheSGNdifferentiationprogramorchestratedbytheGata3transcriptionalnetwork
4. TheeffectofGATA3onSPINK5expressionwasindirectandGATA3alonewasinsufficientforfinaldifferentiationofkeratinocyteswherefullSPINK5expressionwasobserved.
5. Inthepresenceof100ng/mlIL11,GATA3transcriptabundanceroseupto~85foldofthatmeasuredinuntreatedcells,whereasTbettranscriptswereloweredmerelyto~41%
6. withasimilardistributionacrossthegenome,comparingtoT47Dcells.CONCLUSIONS:Weproposethat
RNAseqintronfeatures,aggregate(filtered),NCBIHomosapiensAnnotationRelease107
Bibliography
RelatedarticlesinPubMed
GeneRIFs:GeneReferencesIntoFunctions What'saGeneRIF?
28/4/2015 GATA3GATAbindingprotein3[Homosapiens(human)]GeneNCBI
http://www.ncbi.nlm.nih.gov/gene/2625 4/12
thisspecific,cancerderivedmutationinGATA3deregulatesphysiologicproteinturnover,stabilizesGATA3bindingacrossthegenome
7. ThisstudyexpandsthespectrumofneoplasmsknowntoexpressGATA3.8. ASH2LenhancesERalphaexpressionasacoactivatorofGATA3inbreastcancers9. GATA3isadiagnosticallyusefulmarkerfortriplenegativebreastcancerandismoresensitivethanMGB
andGCDFP15combined.10. GATA3expressionindependentlypredictsanunfavorableprognosisinprimarygastricadenocarcinoma
patients.
Submit: NewGeneRIF Correction Seeall(191)
FindtestsforthisgeneintheNIHGeneticTestingRegistry(GTR)
Phenotypes
Associatedconditions
Description Tests
BarakatsyndromeMedGen:C1840333, OMIM:146255, GeneReviews:Notavailable
Comparelabs
Copynumberresponse
Description
CopynumberresponseTriplosensitivityNoevidenceavailable(Lastevaluated(20111028)ClinGenGenomeCurationPage, PubMed
HaploinsufficencySufficientevidencefordosagepathogenicity(Lastevaluated(20111028)ClinGenGenomeCurationPage, PubMed
NHGRIGWASCatalog
Description
Agenomewideassociationmetaanalysisofselfreportedallergyidentifiessharedandallergyspecificsusceptibilityloci.NHGRIGWACatalogNHGRIGWACatalog, PubMed
AgenomewideassociationstudyofHodgkin'slymphomaidentifiesnewsusceptibilitylociat2p16.1(REL),8q24.21and10p14(GATA3).NHGRIGWACatalogNHGRIGWACatalog, PubMed
AmetaanalysisofHodgkinlymphomareveals19p13.3TCF3asanovelsusceptibilitylocus.
28/4/2015 GATA3GATAbindingprotein3[Homosapiens(human)]GeneNCBI
http://www.ncbi.nlm.nih.gov/gene/2625 5/12
SeevariantsinClinVar
SeestudiesandvariantsindbVar
SeeVariationViewer(GRCh37.p13)
SeeSNPGeneviewReportSee1000GenomesBrowser(GRCh37.p13)
GototheHIV1,HumanInteractionDatabase
NHGRIGWACatalogNHGRIGWACatalog, PubMed
Geneticsofrheumatoidarthritiscontributestobiologyanddrugdiscovery.NHGRIGWACatalogNHGRIGWACatalog, PubMed
Genomewidedietgeneinteractionanalysesforriskofcolorectalcancer.NHGRIGWACatalogNHGRIGWACatalog, PubMed
Identificationofsusceptibilitylociforcolorectalcancerinagenomewidemetaanalysis.NHGRIGWACatalogNHGRIGWACatalog, PubMed
MetaanalysisofgenomewideassociationstudiesidentifiessixnewLociforserumcalciumconcentrations.NHGRIGWACatalogNHGRIGWACatalog, PubMed
Variationat10p12.2and10p14influencesriskofchildhoodBcellacutelymphoblasticleukemiaandphenotype.NHGRIGWACatalogNHGRIGWACatalog, PubMed
Variationat3p24.1and6q23.3influencestheriskofHodgkin'slymphoma.NHGRIGWACatalogNHGRIGWACatalog, PubMed
Variation
Genotypes
HIV1interactions
Proteininteractions
Protein Gene Interaction Pubs
Nef nefAminoacids1926ofHIV1NefmediatethebindingofNeftomurineGATA1andGATA3invitro,suggestingNefmayactasanuclearregulatoryfactorthroughbindingtohumanGATA1andGATA3
PubMed
28/4/2015 GATA3GATAbindingprotein3[Homosapiens(human)]GeneNCBI
http://www.ncbi.nlm.nih.gov/gene/2625 6/12
Adipogenesis,organismspecificbiosystem(fromWikiPathways)CMYBtranscriptionfactornetwork,organismspecificbiosystem(fromPathwayInteractionDatabase)CalcineurinregulatedNFATdependenttranscriptioninlymphocytes,organismspecificbiosystem(fromPathwayInteractionDatabase)Factorsinvolvedinmegakaryocytedevelopmentandplateletproduction,organismspecificbiosystem(fromREACTOME)Glucocorticoidreceptorregulatorynetwork,organismspecificbiosystem(fromPathwayInteractionDatabase)Hemostasis,organismspecificbiosystem(fromREACTOME)IL27mediatedsignalingevents,organismspecificbiosystem(fromPathwayInteractionDatabase)Inflammatoryboweldisease(IBD),organismspecificbiosystem(fromKEGG)Inflammatoryboweldisease(IBD),conservedbiosystem(fromKEGG)Notchsignalingpathway,organismspecificbiosystem(fromPathwayInteractionDatabase)RegulationofnuclearSMAD2/3signaling,organismspecificbiosystem(fromPathwayInteractionDatabase)SIDSSusceptibilityPathways,organismspecificbiosystem(fromWikiPathways)TCRSignalingPathway,organismspecificbiosystem(fromWikiPathways)
PathwaysfromBioSystems
Interactions
Items125of27
Products Interactant OtherGene Complex Source Pubs Description
P23771 P14921 ETS1 HPRD PubMed
P23771 P15036 ETS2 HPRD PubMed
P23771 P25800 LMO1 HPRD PubMed
P23771 P25791 LMO2 HPRD PubMed
P23771 Q15648 MED1 HPRD PubMed
P23771 Q01826 SATB1 HPRD PubMed
P23771 P17542 TAL1 HPRD PubMed
P23771 Q8WW38 ZFPM2 HPRD PubMed
BioGRID:108895 BioGRID:107116 BMI1 BioGRID PubMed AffinityCaptureWestern
BioGRID:108895 BioGRID:107140 BRCA1 BioGRID PubMed AffinityCaptureWestern
BioGRID:108895 BioGRID:119170 FOXP3 BioGRID PubMed AffinityCaptureWestern
BioGRID:108895 BioGRID:114368 HDAC3 BioGRID PubMed AffinityCaptureWestern
BioGRID:108895 BioGRID:115106 HDAC4 BioGRID PubMed AffinityCaptureWestern
BioGRID:108895 BioGRID:115331 HDAC5 BioGRID PubMed AffinityCaptureWestern
BioGRID:108895 BioGRID:110190 LMO1 BioGRID PubMed AffinityCaptureWesternReconstitutedComplex
BioGRID:108895 BioGRID:110191 LMO2 BioGRID PubMed AffinityCaptureWestern
28/4/2015 GATA3GATAbindingprotein3[Homosapiens(human)]GeneNCBI
http://www.ncbi.nlm.nih.gov/gene/2625 7/12
HomologsoftheGATA3gene:TheGATA3geneisconservedinchimpanzee,Rhesusmonkey,dog,cow,mouse,rat,chicken,zebrafish,andfrog.OrthologsfromAnnotationPipeline:121organismshaveorthologswithhumangeneGATA3MapViewer(Mouse,Rat)OrthoDB:TheHierarchicalCatalogofEukaryoticOrthologs
MGC2346,MGC5199,MGC5445
Items125of27
BioGRID:108895 BioGRID:110358 MDM2 BioGRID PubMed AffinityCaptureWestern
BioGRID:108895 BioGRID:110687 MYB BioGRID PubMed AffinityCaptureWestern
BioGRID:108895 BioGRID:111657 PSMA3 BioGRID PubMed Twohybrid
BioGRID:108895 BioGRID:111850 RARB BioGRID PubMed Twohybrid
BioGRID:108895 BioGRID:118927 REPIN1 BioGRID PubMed ReconstitutedComplex
BioGRID:108895 BioGRID:112550 SP1 BioGRID PubMed AffinityCaptureWesternReconstitutedComplex
BioGRID:108895 BioGRID:112566 SPI1 BioGRID PubMed ReconstitutedComplex
BioGRID:108895 BioGRID:112749 TAL1 BioGRID PubMed AffinityCaptureWestern
BioGRID:108895 BioGRID:119027 TBX21 BioGRID PubMed AffinityCaptureWestern
Generalgeneinformation
Markers
Homology
CloneNames
GeneOntology ProvidedbyGOA
Function EvidenceCode Pubs
DNAbinding TAS PubMed
Eboxbinding IDA PubMed
HMGboxdomainbinding IPI PubMed
RNApolymeraseIIcorepromoterproximalregionsequencespecificDNAbindingtranscriptionfactoractivityinvolvedinnegativeregulationoftranscription IMP PubMed
RNApolymeraseIIcorepromoterproximalregionsequencespecificDNAbindingtranscriptionfactoractivityinvolvedinpositiveregulationoftranscription IEA
RNApolymeraseIIcorepromotersequencespecificDNAbinding IEA
corepromoterproximalregionsequencespecificDNAbinding IDA PubMed
corepromotersequencespecificDNAbinding IDA PubMed
enhancersequencespecificDNAbinding IEA
28/4/2015 GATA3GATAbindingprotein3[Homosapiens(human)]GeneNCBI
http://www.ncbi.nlm.nih.gov/gene/2625 8/12
interleukin2receptorbinding IEA
nucleicacidbindingtranscriptionfactoractivity IDA PubMed
nucleicacidbindingtranscriptionfactoractivity IMP PubMed
proteinbinding IPI PubMed
proteindimerizationactivity IEA
sequencespecificDNAbindingtranscriptionfactoractivity TAS PubMed
transcriptioncoactivatoractivity IDA PubMed
transcriptionfactorbinding IPI PubMed
transcriptionregulatoryregionDNAbinding IDA PubMed
transcriptionregulatoryregionsequencespecificDNAbinding IDA PubMed
zincionbinding IEA
Items125of100
Process EvidenceCode Pubs
Tcellreceptorsignalingpathway ISS
Thelper2celldifferentiation IEA
TORsignaling ISS
anatomicalstructureformationinvolvedinmorphogenesis ISS
anatomicalstructuremorphogenesis TAS PubMed
aorticvalvemorphogenesis ISS
axonguidance IEA
bloodcoagulation TAS
canonicalWntsignalingpathwayinvolvedinmetanephrickidneydevelopment ISS
cardiacrightventriclemorphogenesis ISS
cellfatedetermination ISS
cellmaturation IEA
cellularresponsetoBMPstimulus IEA
cellularresponsetointerferonalpha IEP PubMed
cellularresponsetointerleukin4 IEP PubMed
cellularresponsetotumornecrosisfactor IEP PubMed
defenseresponse TAS PubMed
developmentalgrowth IEA
eardevelopment IMP PubMed
embryonichemopoiesis IEA
erythrocytedifferentiation IEA
humoralimmuneresponse IEA
28/4/2015 GATA3GATAbindingprotein3[Homosapiens(human)]GeneNCBI
http://www.ncbi.nlm.nih.gov/gene/2625 9/12
PreferredNamestransactingTcellspecifictranscriptionfactorGATA3
NamestransactingTcellspecifictranscriptionfactorGATA3GATAbindingfactor3
Thesereferencesequencesexistindependentlyofgenomebuilds.Explain
Items125of100
inuteroembryonicdevelopment IEA
innateimmuneresponse IEA
innerearmorphogenesis IEA
Component EvidenceCode Pubs
nuclearchromatin IDA PubMed
nucleolus IDA
nucleoplasm IDA
nucleoplasm TAS
nucleus IDA
Generalproteininformation
NCBIReferenceSequences(RefSeq)
RefSeqsmaintainedindependentlyofAnnotatedGenomes
RangeDownload
NG_015859.1RefSeqGene
5001..25498GenBank,FASTA,SequenceViewer(Graphics)
Description
Sourcesequence(s)
NM_001002295.1NP_001002295.1transactingTcellspecifictranscriptionfactorGATA3isoform1
SeeidenticalproteinsandtheirannotatedlocationsforNP_001002295.1
Status:REVIEWED
TranscriptVariant:Thisvariant(1)representsthelongertranscriptandencodesthelongerisoform(1).AI024501,AI686327,BC003070,BC006793,BC006839,BG287052,
Genomic
mRNAandProtein(s)
28/4/2015 GATA3GATAbindingprotein3[Homosapiens(human)]GeneNCBI
http://www.ncbi.nlm.nih.gov/gene/2625 10/12
Thefollowingsectionscontainreferencesequencesthatbelongtoaspecificgenomebuild.Explain
RefSeqsofAnnotatedGenomes:HomosapiensAnnotationRelease107
ReferenceGRCh38.p2PrimaryAssembly
cd00202Location:317367
ConsensusCDSUniProtKB/SwissProt
Related
cd00202Location:316366
Description
Sourcesequence(s)ConsensusCDS
UniProtKB/SwissProtRelated
BM152193CCDS31143.1P23771ENSP00000368632,OTTHUMP00000019070,ENST00000379328,OTTHUMT00000046718
ConservedDomains(1)summaryZnF_GATAZincfingerDNAbindingdomainbindsspecificallytoDNAconsensussequence[AT]GATA[AG]promoterelementsasubsetoffamilymembersmayalsobindproteinzincfingerconsensustopologyisCX(2)CX(17)CX(2)C
NM_002051.2NP_002042.1transactingTcellspecifictranscriptionfactorGATA3isoform2
SeeidenticalproteinsandtheirannotatedlocationsforNP_002042.1
Status:REVIEWED
TranscriptVariant:Thisvariant(2)usesanalternateinframesplicesiteinthemidcodingregion,comparedtovariant1,resultinginanisoform(2)thatis1aashorterthanisoform1.AI024501,AI686327,BC006793,BC006839,BG287052,BM152193CCDS7083.1P23771ENSP00000341619,OTTHUMP00000019071,ENST00000346208,OTTHUMT00000046719
ConservedDomains(1)summaryZnF_GATAZincfingerDNAbindingdomainbindsspecificallytoDNAconsensussequence[AT]GATA[AG]promoterelementsasubsetoffamilymembersmayalsobindproteinzincfingerconsensustopologyisCX(2)CX(17)CX(2)C
RangeDownload
NC_000010.11ReferenceGRCh38.p2PrimaryAssembly
8045428..8075201GenBank,FASTA,SequenceViewer(Graphics)
Genomic
mRNAandProtein(s)
28/4/2015 GATA3GATAbindingprotein3[Homosapiens(human)]GeneNCBI
http://www.ncbi.nlm.nih.gov/gene/2625 11/12
AlternateCHM1_1.1
Relatedsequences
NucleotideProtein
Heading AccessionandVersion
genomic AL390294.19(52251..72748) None
genomic AMYH02022091.1(16841..37313) None
genomic AY497006.1 AAR32096.1
genomic CH471072.2 EAW86367.1
EAW86368.1
genomic FB571433.1 CAR95134.1
genomic FB571435.1 CAR95135.1
genomic HI179114.1 CBX53865.1
cd00202Location:317367
UniProtKB/SwissProt
cd00202Location:317367
UniProtKB/SwissProt
XM_005252443.3XP_005252500.1
SeeidenticalproteinsandtheirannotatedlocationsforXP_005252500.1
P23771ConservedDomains(1)summary
ZnF_GATAZincfingerDNAbindingdomainbindsspecificallytoDNAconsensussequence[AT]GATA[AG]promoterelementsasubsetoffamilymembersmayalsobindproteinzincfingerconsensustopologyisCX(2)CX(17)CX(2)C
XM_005252442.2XP_005252499.1
SeeidenticalproteinsandtheirannotatedlocationsforXP_005252499.1
P23771ConservedDomains(1)summary
ZnF_GATAZincfingerDNAbindingdomainbindsspecificallytoDNAconsensussequence[AT]GATA[AG]promoterelementsasubsetoffamilymembersmayalsobindproteinzincfingerconsensustopologyisCX(2)CX(17)CX(2)C
RangeDownload
NC_018921.2AlternateCHM1_1.1
8096969..8117441GenBank,FASTA,SequenceViewer(Graphics)
Genomic
28/4/2015 GATA3GATAbindingprotein3[Homosapiens(human)]GeneNCBI
http://www.ncbi.nlm.nih.gov/gene/2625 12/12
GATA3database
MIM131320GATA3databaseGATA3databaseUCSCUCSCUniGeneHs.524134
genomic HI179116.1 CBX53866.1
genomic JC009146.1 CDL93507.1
mRNA AI024501.1 None
mRNA AI686327.1 None
mRNA AK298213.1 BAG60483.1
mRNA BC003070.2 AAH03070.1
mRNA BC006793.1 AAH06793.1
mRNA BC006839.1 None
mRNA BG287052.1 None
mRNA BM152193.1 None
mRNA M69106.1 AAA35870.1
mRNA X55037.1 CAA38877.1
mRNA X55122.1 CAA38916.1
mRNA X58072.1 CAA41102.1
othergenetic AM392571.1 CAL37449.1
othergenetic AM392688.1 CAL37566.1
ProteinAccessionLinks
GenPeptLink UniProtKBLink
P23771.1 GenPept UniProtKB/SwissProt:P23771
Additionallinks
LocusspecificDatabases
AdditionalLinks
GeneLinkOut