gata3 gata binding protein 3 [homo sapiens (human)] - gene - ncbi

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>>



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



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?



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.



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



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:110190 LMO1 BioGRID PubMed AffinityCaptureWesternReconstitutedComplex

BioGRID:108895 BioGRID:110191 LMO2 BioGRID PubMed AffinityCaptureWestern



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



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



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)



Thefollowingsectionscontainreferencesequencesthatbelongtoaspecificgenomebuild.Explain

RefSeqsofAnnotatedGenomes:HomosapiensAnnotationRelease107

ReferenceGRCh38.p2PrimaryAssembly

cd00202Location:317367

ConsensusCDSUniProtKB/SwissProt

Related


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


Genomic

mRNAandProtein(s)



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


UniProtKB/SwissProt


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


Genomic



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

gata3 gata binding protein 3 [homo sapiens (human)] - gene - ncbi

Documents