Human Gene GATA3 (uc001ijz.3)
  Description: Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.
RefSeq Summary (NM_001002295): 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].
Transcript (Including UTRs)
   Position: hg19 chr10:8,096,667-8,117,164 Size: 20,498 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr10:8,097,619-8,115,986 Size: 18,368 Coding Exon Count: 5 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:8,096,667-8,117,164)mRNA (may differ from genome)Protein (444 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): GATA3
CDC HuGE Published Literature: GATA3
Positive Disease Associations: asthma , Creatinine , Diabetes Mellitus , Erythrocyte Count , Hypertension , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Respiratory Function Tests , Sodium , Stroke
Related Studies:
  1. asthma
    Pykalainen, M. et al. 2005, Association analysis of common variants of STAT6, GATA3, and STAT4 to asthma and high serum IgE phenotypes, The Journal of allergy and clinical immunology. 2005 Jan;115(1):80-7. [PubMed 15637551]
    We identified a panel of novel SNPs in genes coding for proteins important in the T H 1/T H 2 cell differentiation. SNPs of the GATA3 gene showed an initial association to asthma-related phenotypes. Elucidation of the importance of the identified panel of SNPs in other T H 1/T H 2 mediated diseases will be of great interest.
  2. Asthma
    , , . [PubMed 0]
  3. Creatinine
    Shih-Jen Hwang et al. BMC medical genetics 2007, A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study., BMC medical genetics. [PubMed 17903292]
    Kidney function traits and TSH are associated with SNPs on the Affymetrix GeneChip Human Mapping 100K SNP set. These data will serve as a valuable resource for replication as more SNPs associated with kidney function and endocrine traits are identified.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: GATA3
Diseases sorted by gene-association score: hypoparathyroidism, sensorineural deafness, and renal dysplasia* (1669), hypoparathyroidism-deafness-renal disease syndrome* (419), hypoparathyroidism (38), renal dysplasia (19), bartholin's duct cyst (15), sarcomatoid renal cell carcinoma (12), inverted transitional papilloma (11), dysthymic disorder (9), allergic asthma (9), cystitis cystica (8), gastric signet ring cell adenocarcinoma (8), water-clear cell adenoma (7), mental depression (7), thrombocytopenic purpura, autoimmune (6), pseudopapilledema (6), paranasal sinus disease (6), bladder adenocarcinoma (6), hypochondriasis (6), bladder urothelial carcinoma (6), atypical depressive disorder (6), vogt-koyanagi-harada disease (6), leukemia, acute lymphoblastic 3* (6), tropical spastic paraparesis (6), breast cancer (5), clear cell acanthoma (5), ovarian brenner tumor (5), erythema elevatum diutinum (5), cochlear disease (5), luminal breast carcinoma (5), kleptomania (4), ecthyma (4), major depressive disorder and accelerated response to antidepressant drug treatment (4), systemic lupus erythematosus (3), asthma (2), aplastic anemia (2), chromosomal deletion syndrome (1), bronchial disease (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 111.53 RPKM in Skin - Not Sun Exposed (Suprapubic)
Total median expression: 358.31 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -178.50557-0.320 Picture PostScript Text
3' UTR -311.841178-0.265 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00320 - GATA zinc finger

SCOP Domains:
57716 - Glucocorticoid receptor-like (DNA-binding domain)

ModBase Predicted Comparative 3D Structure on P23771-2
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsemblFlyBaseWormBase 
 Protein SequenceProtein SequenceProtein SequenceProtein Sequence 
 AlignmentAlignmentAlignmentAlignment 

-  Descriptions from all associated GenBank mRNAs
  LF212859 - JP 2014500723-A/20362: Polycomb-Associated Non-Coding RNAs.
BC006793 - Homo sapiens GATA binding protein 3, mRNA (cDNA clone MGC:5199 IMAGE:2985843), complete cds.
BC003070 - Homo sapiens GATA binding protein 3, mRNA (cDNA clone MGC:2346 IMAGE:3504200), complete cds.
AK298213 - Homo sapiens cDNA FLJ56578 complete cds, highly similar to Trans-acting T-cell-specific transcription factor GATA-3.
LF211783 - JP 2014500723-A/19286: Polycomb-Associated Non-Coding RNAs.
X55122 - Human mRNA for GATA-3 transcription factor.
JD151563 - Sequence 132587 from Patent EP1572962.
X58072 - Human hGATA3 mRNA for trans-acting T-cell specific transcription factor.
X55037 - H.sapiens GATA-3 mRNA.
JD184912 - Sequence 165936 from Patent EP1572962.
M69106 - Human Gata3 enhancer-binding protein mRNA, complete cds.
AB463676 - Synthetic construct DNA, clone: pF1KB8362, Homo sapiens GATA3 gene for GATA binding protein 3, without stop codon, in Flexi system.
AM392571 - Synthetic construct Homo sapiens clone IMAGE:100002593 for hypothetical protein (GATA3 gene).
AM392688 - Synthetic construct Homo sapiens clone IMAGE:100002594 for hypothetical protein (GATA3 gene).
CU678358 - Synthetic construct Homo sapiens gateway clone IMAGE:100017279 5' read GATA3 mRNA.
KJ905755 - Synthetic construct Homo sapiens clone ccsbBroadEn_15425 GATA3 gene, encodes complete protein.
KJ896866 - Synthetic construct Homo sapiens clone ccsbBroadEn_06260 GATA3 gene, encodes complete protein.
FU768453 - Short interference ribonucleic acids for treating allergic diseases.
FU768451 - Short interference ribonucleic acids for treating allergic diseases.
FU768452 - Short interference ribonucleic acids for treating allergic diseases.
JD284687 - Sequence 265711 from Patent EP1572962.
JD310247 - Sequence 291271 from Patent EP1572962.
JD449483 - Sequence 430507 from Patent EP1572962.
JD066462 - Sequence 47486 from Patent EP1572962.
JD188485 - Sequence 169509 from Patent EP1572962.
JD501728 - Sequence 482752 from Patent EP1572962.
JD189930 - Sequence 170954 from Patent EP1572962.
JD381904 - Sequence 362928 from Patent EP1572962.
BC006839 - Homo sapiens GATA binding protein 3, mRNA (cDNA clone IMAGE:3450299).
KJ905754 - Synthetic construct Homo sapiens clone ccsbBroadEn_15424 GATA3 gene, encodes complete protein.
JD456292 - Sequence 437316 from Patent EP1572962.
JD296217 - Sequence 277241 from Patent EP1572962.
MA448436 - JP 2018138019-A/20362: Polycomb-Associated Non-Coding RNAs.
MA447360 - JP 2018138019-A/19286: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_GATA3pathway - GATA3 participate in activating the Th2 cytokine genes expression

Reactome (by CSHL, EBI, and GO)

Protein P23771 (Reactome details) participates in the following event(s):

R-HSA-9009065 FOXA1 and GATA3 bind to CCND1 promoter
R-HSA-9018494 FOXA1 and GATA3 bind TFF genes
R-HSA-9009371 Binding of AP1 transcriptional activator complexes to CCND1 promoter
R-HSA-9018499 ESR1:ESTG and EP300 are recruited to TFF3 promoter
R-HSA-9009541 ESR1 binds to TFF1 gene promoter
R-HSA-996755 ZFPM proteins bind GATA proteins
R-HSA-9009536 DDX5 binds ESR1:estrogen:TFF1 gene promoter
R-HSA-6783177 USP21 deubiquitinates GATA3,IL33
R-HSA-8956568 RUNX1 binds the core TAL1 complex
R-HSA-8956586 RUNX1-containing TAL1 complex binds the MYB gene enhancer
R-HSA-9009533 TBP and TFIIA bind TATA box on ESR1:estrogen bound TFF1 gene promoter
R-HSA-9009526 CARM1 binds TBP:TFIIA:DDX5:ESR1:estrogen:TFF1 gene
R-HSA-9023861 PRMT1 binds TBP:TFIIA:DDX5:ESR1:estrogen:TFF1 gene
R-HSA-9023860 Histone acetyltransferases are recruited to the TFF1 gene
R-HSA-9018519 Estrogen-dependent gene expression
R-HSA-6785807 Interleukin-4 and 13 signaling
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
R-HSA-8939211 ESR-mediated signaling
R-HSA-449147 Signaling by Interleukins
R-HSA-109582 Hemostasis
R-HSA-5689880 Ub-specific processing proteases
R-HSA-8939236 RUNX1 regulates transcription of genes involved in differentiation of HSCs
R-HSA-9006931 Signaling by Nuclear Receptors
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-5688426 Deubiquitination
R-HSA-8878171 Transcriptional regulation by RUNX1
R-HSA-162582 Signal Transduction
R-HSA-168256 Immune System
R-HSA-597592 Post-translational protein modification
R-HSA-212436 Generic Transcription Pathway
R-HSA-392499 Metabolism of proteins
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: NM_001002295, NP_001002295, P23771-2
UCSC ID: uc001ijz.3
RefSeq Accession: NM_001002295
Protein: P23771-2, splice isoform of P23771 CCDS: CCDS7083.1, CCDS31143.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001002295.1
exon count: 6CDS single in 3' UTR: no RNA size: 3070
ORF size: 1335CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2855.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.