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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
  • 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 Allograft rejection and NF-kappaB Signaling. 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 GATA5.

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 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

Proteomics data for GATA3 Gene at MOPED

Post-translational modifications for GATA3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GATA3 Gene

ENSEMBL proteins:
REFSEQ proteins:

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.
  • Contains 2 GATA-type zinc fingers.
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.
Similarity:
  • Contains 2 GATA-type zinc fingers.
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:0000979 RNA polymerase II core promoter sequence-specific DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA,TAS 2050118
GO:0005515 protein binding IPI 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

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

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
Jensen Localization Image for GATA3 Gene COMPARTMENTS Subcellular localization image for GATA3 gene
Compartment Confidence
nucleus 5
cytosol 3
extracellular 2
cytoskeleton 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for GATA3 Gene

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:0000902 cell morphogenesis IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001764 neuron migration IEA --
GO:0001775 cell activation IEA --
GO:0001806 type IV hypersensitivity IEA --
genes like me logo Genes that share ontologies with GATA3: view

Drugs & Compounds for GATA3 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dexamethasone Approved, Investigational Pharma Agonist 1950
Asparaginase Approved Pharma 212
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 2701
Cytarabine Approved, Investigational Pharma 1054
Daunorubicin Approved Pharma 254

(7) 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:

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 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, MOPED, and MaxQB for GATA3 Gene



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.
genes like me logo Genes that share expression patterns with GATA3: view

Protein tissue co-expression partners for GATA3 Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia GATA3 35
  • 90.67 (n)
  • 96.39 (a)
GATA3 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GATA3 35
  • 91.5 (n)
  • 96.84 (a)
GATA3 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gata3 35
  • 89.89 (n)
  • 96.61 (a)
Gata3 16
Gata3 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GATA3 35
  • 99.4 (n)
  • 99.77 (a)
GATA3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gata3 35
  • 89.84 (n)
  • 96.39 (a)
oppossum
(Monodelphis domestica)
Mammalia GATA3 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GATA3 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves GATA3 35
  • 83.45 (n)
  • 92.33 (a)
GATA3 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GATA3 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gata3 35
  • 76.54 (n)
  • 82.18 (a)
Str.10665 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.793 35
zebrafish
(Danio rerio)
Actinopterygii gata3 35
  • 75 (n)
  • 81.48 (a)
gata3 36
  • 80 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta grn 37
  • 86 (a)
pnr 37
  • 78 (a)
grn 36
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea elt-1 37
  • 53 (a)
elt-1 36
  • 25 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DAL80 36
  • 15 (a)
ManyToMany
GAT1 36
  • 15 (a)
ManyToMany
GLN3 36
  • 11 (a)
ManyToMany
GZF3 36
  • 11 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
OneToMany
Species with no ortholog for GATA3:
  • 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
VAR_017818 Hypoparathyroidism, sensorineural deafness, and renal disease (HDR)
rs11567901 - 8,058,787(+) TGGGC(A/C/G)GCTCC reference, missense
VAR_033025 A breast cancer sample
VAR_075427 Hypoparathyroidism, sensorineural deafness, and renal disease (HDR)
rs1567880 -- 8,065,075(+) AAGTC(A/G)AGATG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv894851 CNV Loss 21882294
nsv831780 CNV Loss 17160897
nsv5754 CNV Insertion 18451855
nsv517198 CNV Loss 19592680
dgv610n71 CNV Loss 21882294
esv1000455 CNV Deletion 20482838
dgv118e199 CNV Deletion 23128226
nsv894854 CNV Loss 21882294
nsv894855 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
GATA3
Human Gene Mutation Database (HGMD)
GATA3

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

Disorders for GATA3 Gene

MalaCards: The human disease database

(30) 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
  • hrd syndrome
renal dysplasia
  • renal cell dysplasia
hypoparathyroidism
  • hypoparathyroidism, idiopathic
hypoparathyroidism-deafness-renal disease syndrome
  • barakat syndrome
sarcomatoid renal cell carcinoma
  • renal cell carcinoma, spindle cell
- 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. A T-cell specific TCR delta DNA binding protein is a member of the human GATA family. (PMID: 2050118) Joulin V. … Romeo P.-H. (EMBO J. 1991) 2 3 4 67
  2. Essential role of GATA3 for the maintenance of type 2 helper T (Th2) cytokine production and chromatin remodeling at the Th2 cytokine gene loci. (PMID: 15087456) Yamashita M. … Nakayama T. (J. Biol. Chem. 2004) 2 3 23
  3. Expression pattern of GATA-3 in embryonic and fetal human skin suggests a role in epidermal and follicular morphogenesis. (PMID: 19719829) Sellheyer K. … Krahl D. (J. Cutan. Pathol. 2010) 3 23
  4. GATA3 in development and cancer differentiation: cells GATA have it! (PMID: 19798694) Chou J. … Werb Z. (J. Cell. Physiol. 2010) 3 23
  5. Cyclin D1 is a direct transcriptional target of GATA3 in neuroblastoma tumor cells. (PMID: 20154722) Molenaar J.J. … Caron H.N. (Oncogene 2010) 3 23

Products for GATA3 Gene

Sources for GATA3 Gene

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