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Aliases for GATA3 Gene

Aliases for GATA3 Gene

  • GATA Binding Protein 3 2 3 5
  • GATA-Binding Factor 3 3 4
  • Trans-Acting T-Cell-Specific Transcription Factor GATA-3 3
  • GATA-Binding Protein 3 2
  • HDRS 3
  • HDR 3

External Ids for GATA3 Gene

Previous GeneCards Identifiers for GATA3 Gene

  • GC10P008040
  • GC10P008246
  • GC10P008100
  • GC10P008136
  • GC10P008015
  • GC10P008095

Summaries for GATA3 Gene

Entrez Gene Summary for GATA3 Gene

  • 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]

GeneCards Summary for GATA3 Gene

GATA3 (GATA Binding Protein 3) is a Protein Coding gene. Diseases associated with GATA3 include Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia and Renal Dysplasia. Among its related pathways are Notch signaling pathway (KEGG) and Th2 Differentiation Pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription factor binding. An important paralog of this gene is GATA2.

UniProtKB/Swiss-Prot for GATA3 Gene

  • Transcriptional activator which binds to the enhancer of the T-cell receptor alpha and delta genes. Binds to the consensus sequence 5-AGATAG-3. Required for the T-helper 2 (Th2) differentiation process following immune and inflammatory responses.

Gene Wiki entry for GATA3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GATA3 Gene

Genomics for GATA3 Gene

Regulatory Elements for GATA3 Gene

Enhancers for GATA3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G009009 0.8 FANTOM5 ENCODE 37.4 +966.1 966077 3.5 JUND FOSL2 ZNF623 GATA3 GATA3-AS1 ENSG00000223808 LOC105376400
GH10G008330 1.5 FANTOM5 Ensembl ENCODE 14.7 +286.6 286574 3.3 PKNOX1 ZSCAN4 SIN3A ZNF2 GLIS2 ELK1 ZNF366 RCOR1 EGR2 SP3 GATA3 GATA3-AS1 ENSG00000232638 ENSG00000226861 LOC105376396
GH10G008401 1.5 FANTOM5 Ensembl ENCODE dbSUPER 13.1 +358.5 358542 4.4 CTCF RFX1 NR2F1 CBFB TBX21 RAD21 ZBTB40 ZNF664 IKZF1 SMC3 GATA3 ENSG00000232638 GATA3-AS1 LOC105376396 LOC105376397
GH10G008102 1.3 FANTOM5 ENCODE dbSUPER 13.9 +58.1 58124 1.5 PKNOX1 KLF1 KLF17 ZIC2 ZFHX2 POLR2A PRDM10 EGR2 HLF DPF2 GATA3 ENSG00000232638 GATA3-AS1 LOC105376395 PRPF38AP1
GH10G008069 1 ENCODE dbSUPER 12.7 +25.2 25211 2.3 SUZ12 ZSCAN4 ZFP64 ZNF266 SIN3A ZNF697 ZKSCAN1 ZFHX2 POLR2A ZNF207 GATA3 TAF3 GATA3-AS1 GC10P008092
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GATA3 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the GATA3 gene promoter:

Genomic Location for GATA3 Gene

Chromosome:
10
Start:
8,045,428 bp from pter
End:
8,075,201 bp from pter
Size:
29,774 bases
Orientation:
Plus strand

Genomic View for GATA3 Gene

Genes around GATA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GATA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GATA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GATA3 Gene

Proteins for GATA3 Gene

  • Protein details for GATA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23771-GATA3_HUMAN
    Recommended name:
    Trans-acting T-cell-specific transcription factor GATA-3
    Protein Accession:
    P23771
    Secondary Accessions:
    • Q5VWG7
    • Q5VWG8
    • Q96J16

    Protein attributes for GATA3 Gene

    Size:
    443 amino acids
    Molecular mass:
    47916 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for GATA3 Gene

    Alternative splice isoforms for GATA3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GATA3 Gene

Post-translational modifications for GATA3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GATA3 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for GATA3 (GATA3)

No data available for DME Specific Peptides for GATA3 Gene

Domains & Families for GATA3 Gene

Gene Families for GATA3 Gene

Protein Domains for GATA3 Gene

Suggested Antigen Peptide Sequences for GATA3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P23771

UniProtKB/Swiss-Prot:

GATA3_HUMAN :
  • Binds DNA via the 2 GATA-type zinc fingers. Each zinc finger may bind either adjacent sites in a palindromic motif, or a different DNA molecule allowing looping and long-range gene regulation.
Domain:
  • Binds DNA via the 2 GATA-type zinc fingers. Each zinc finger may bind either adjacent sites in a palindromic motif, or a different DNA molecule allowing looping and long-range gene regulation.
  • The YxKxHxxxRP motif is critical for DNA-binding and function.
genes like me logo Genes that share domains with GATA3: view

Function for GATA3 Gene

Molecular function for GATA3 Gene

GENATLAS Biochemistry:
T cell specific transcription factor,GATA sequence binding protein in T cell receptor,also expressed in endothelial cell,placenta,transcriptional regulator in kidney,adrenal gland,embryonic brain,adult nervous system endocardium,associated with a special class of nuclear bodies
UniProtKB/Swiss-Prot Function:
Transcriptional activator which binds to the enhancer of the T-cell receptor alpha and delta genes. Binds to the consensus sequence 5-AGATAG-3. Required for the T-helper 2 (Th2) differentiation process following immune and inflammatory responses.

Gene Ontology (GO) - Molecular Function for GATA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA 19723756
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA --
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IEA --
GO:0000987 core promoter proximal region sequence-specific DNA binding IDA 19232384
GO:0001046 core promoter sequence-specific DNA binding IDA 19674970
genes like me logo Genes that share ontologies with GATA3: view
genes like me logo Genes that share phenotypes with GATA3: view

Human Phenotype Ontology for GATA3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GATA3 Gene

MGI Knock Outs for GATA3:

Animal Model Products

CRISPR Products

Targeted motifs for GATA3 Gene
HOMER Transcription Factor Regulatory Elements motif GATA3
  • Consensus sequence: AGATAASR Submotif: canonical Cell Type: iTreg GEO ID: GSE20898

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GATA3

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for GATA3 Gene

Localization for GATA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GATA3 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GATA3 gene
Compartment Confidence
nucleus 5
extracellular 2
cytosol 2
plasma membrane 1
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GATA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 20855495
GO:0005634 nucleus IDA 19674970
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IBA --
genes like me logo Genes that share ontologies with GATA3: view

Pathways & Interactions for GATA3 Gene

genes like me logo Genes that share pathways with GATA3: view

SIGNOR curated interactions for GATA3 Gene

Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for GATA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0000902 cell morphogenesis IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001709 cell fate determination ISS --
GO:0001764 neuron migration IEA --
genes like me logo Genes that share ontologies with GATA3: view

Drugs & Compounds for GATA3 Gene

(21) Drugs for GATA3 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dexamethasone Approved, Investigational, Vet_approved Pharma Agonist 2171
Asparaginase Approved Pharma 229
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 2935
Cytarabine Approved, Investigational Pharma 1117
Daunorubicin Approved Pharma DNA topoisomerase II inhibitor 273

(6) Additional Compounds for GATA3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GATA3: view

Transcripts for GATA3 Gene

Unigene Clusters for GATA3 Gene

GATA binding protein 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GATA3

Alternative Splicing Database (ASD) splice patterns (SP) for GATA3 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b
SP1:
SP2:
SP3: -

Relevant External Links for GATA3 Gene

GeneLoc Exon Structure for
GATA3
ECgene alternative splicing isoforms for
GATA3

Expression for GATA3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GATA3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GATA3 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x15.6), Skin - Not Sun Exposed (Suprapubic) (x15.0), Bladder (x7.0), and Breast - Mammary Tissue (x4.2).

Protein differential expression in normal tissues from HIPED for GATA3 Gene

This gene is overexpressed in Placenta (64.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GATA3 Gene



Protein tissue co-expression partners for GATA3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GATA3 Gene:

GATA3

SOURCE GeneReport for Unigene cluster for GATA3 Gene:

Hs.524134

mRNA Expression by UniProt/SwissProt for GATA3 Gene:

P23771-GATA3_HUMAN
Tissue specificity: T-cells and endothelial cells.

Evidence on tissue expression from TISSUES for GATA3 Gene

  • Blood(4.6)
  • Skin(2.9)
  • Spleen(2.7)
  • Lymph node(2.5)
  • Kidney(2.3)
  • Lung(2.3)
  • Nervous system(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GATA3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • pelvis
  • ureter
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with GATA3: view

Primer Products

Orthologs for GATA3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GATA3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GATA3 34 35
  • 99.4 (n)
oppossum
(Monodelphis domestica)
Mammalia GATA3 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GATA3 34 35
  • 91.5 (n)
cow
(Bos Taurus)
Mammalia GATA3 34 35
  • 90.67 (n)
mouse
(Mus musculus)
Mammalia Gata3 34 16 35
  • 89.89 (n)
rat
(Rattus norvegicus)
Mammalia Gata3 34
  • 89.84 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GATA3 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves GATA3 34 35
  • 83.45 (n)
lizard
(Anolis carolinensis)
Reptilia GATA3 35
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gata3 34
  • 76.54 (n)
Str.10665 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.793 34
zebrafish
(Danio rerio)
Actinopterygii gata3 34 35
  • 75 (n)
fruit fly
(Drosophila melanogaster)
Insecta grn 36 35
  • 86 (a)
pnr 36
  • 78 (a)
worm
(Caenorhabditis elegans)
Secernentea elt-1 36 35
  • 53 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DAL80 35
  • 15 (a)
ManyToMany
GAT1 35
  • 15 (a)
ManyToMany
GLN3 35
  • 11 (a)
ManyToMany
GZF3 35
  • 11 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 35 (a)
OneToMany
Species where no ortholog for GATA3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GATA3 Gene

ENSEMBL:
Gene Tree for GATA3 (if available)
TreeFam:
Gene Tree for GATA3 (if available)

Paralogs for GATA3 Gene

Paralogs for GATA3 Gene

(4) SIMAP similar genes for GATA3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GATA3: view

Variants for GATA3 Gene

Sequence variations from dbSNP and Humsavar for GATA3 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs104894163 Pathogenic, Hypoparathyroidism, sensorineural deafness, and renal disease (HDR) [MIM:146255] 8,064,037(+) CACTG(A/T)GGCGG reference, missense
VAR_033025 A breast cancer sample
VAR_075427 Hypoparathyroidism, sensorineural deafness, and renal disease (HDR) [MIM:146255]
rs104894162 Pathogenic 8,064,043(+) GGCGG(C/T)GAGAT reference, stop-gained
rs104894164 Pathogenic 8,073,787(+) GAAAC(C/T)GAAAA reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for GATA3 Gene

Variant ID Type Subtype PubMed ID
dgv118e199 CNV deletion 23128226
esv1000455 CNV deletion 20482838
nsv517198 CNV loss 19592680
nsv549933 CNV gain 21841781
nsv549949 CNV loss 21841781
nsv549950 CNV loss 21841781
nsv5754 CNV insertion 18451855
nsv831780 CNV loss 17160897

Variation tolerance for GATA3 Gene

Residual Variation Intolerance Score: 18.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.73; 15.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GATA3 Gene

Human Gene Mutation Database (HGMD)
GATA3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GATA3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GATA3 Gene

Disorders for GATA3 Gene

MalaCards: The human disease database

(34) MalaCards diseases for GATA3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypoparathyroidism, sensorineural deafness, and renal dysplasia
  • hypoparathyroidism, sensorineural deafness, and renal disease
renal dysplasia
  • renal cell dysplasia
hypoparathyroidism
  • hypoparathyroidism, idiopathic
bartholin's duct cyst
  • bartholin duct cyst
hypoparathyroidism-deafness-renal disease syndrome
  • hypoparathyroidism, sensorineural deafness, and renal dysplasia
- elite association - COSMIC cancer census association via MalaCards
Search GATA3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GATA3_HUMAN
  • Hypoparathyroidism, sensorineural deafness, and renal disease (HDR) [MIM:146255]: A disease characterized by steroid-resistant nephrosis with progressive renal failure, hypoparathyroidism, sensorineural deafness, and renal dysplasia. {ECO:0000269 PubMed:10935639, ECO:0000269 PubMed:11389161, ECO:0000269 PubMed:26514990}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GATA3

Genetic Association Database (GAD)
GATA3
Human Genome Epidemiology (HuGE) Navigator
GATA3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GATA3
genes like me logo Genes that share disorders with GATA3: view

No data available for Genatlas for GATA3 Gene

Publications for GATA3 Gene

  1. Association of single nucleotide polymorphisms in GATA-3 with allergic rhinitis. (PMID: 18607915) Zhang L. … Zhao Y. (Acta Otolaryngol. 2009) 3 22 46 64
  2. No evidence that GATA3 rs570613 SNP modifies breast cancer risk. (PMID: 19082709) Johnatty S.E. … Chenevix-Trench G. (Breast Cancer Res. Treat. 2009) 3 22 46 64
  3. Patterns of GATA3 and IL13 gene polymorphisms associated with childhood rhinitis and atopy in a birth cohort. (PMID: 18037162) Huebner M. … Arshad S.H. (J. Allergy Clin. Immunol. 2008) 3 22 46 64
  4. Polymorphisms in the interleukin 13 and GATA binding protein 3 genes and the development of eczema during childhood. (PMID: 18410415) Arshad S.H. … Ewart S. (Br. J. Dermatol. 2008) 3 22 46 64
  5. Common genetic variation in GATA-binding protein 3 and differential susceptibility to breast cancer by estrogen receptor alpha tumor status. (PMID: 18006915) Garcia-Closas M. … Perou C.M. (Cancer Epidemiol. Biomarkers Prev. 2007) 3 22 46 64

Products for GATA3 Gene

  • Addgene plasmids for GATA3

Sources for GATA3 Gene

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