GATA3 Gene (Protein Coding)

GATA Binding Protein 3

GC10P008045
GIFtS:
50
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] See more...

Aliases for GATA3 Gene

Aliases for GATA3 Gene

  • GATA Binding Protein 3 2 3 5
  • Trans-Acting T-Cell-Specific Transcription Factor GATA-3 3 4
  • GATA-Binding Factor 3 3 4
  • HDR 2 3
  • GATA-Binding Protein 3 2
  • GATA3 5
  • HDRS 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 Disease and End Stage Renal Disease. Among its related pathways are Preimplantation Embryo and Notch Signaling Pathway (WikiPathways). Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription factor binding. An important paralog of this gene is GATA2.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for GATA3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GATA3 Gene

Genomics for GATA3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for GATA3 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH10J008049 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 255.9 +11.7 11654 16.1 ZNF654 ZNF600 JUND CEBPA ZNF10 ZSCAN16 ZIC2 ZBTB10 SIN3A TRIM22 GATA3 GATA3-AS1 HSALNG0076041 LOC107984204 KIN TAF3 NONHSAG005179.2-001 ENSG00000232638 HSALNG0076038 NONHSAG005179.2-002
GH10J008045 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 250.7 -0.1 -74 1.4 ZNF341 ZBTB7B ZNF217 SIN3A ELF1 GABPB1 E4F1 ZBTB40 PKNOX1 MAZ GATA3 lnc-GATA3-23 KIN GATA3-AS1 TAF3
GH10J008047 Promoter/Enhancer 1 Ensembl ENCODE dbSUPER 250.7 +1.1 1123 0.2 JUND ZNF217 ZSCAN4 EZH2 CHD1 GATA3 HSALNG0076038 lnc-GATA3-23 GATA3-AS1
GH10J008046 Enhancer 0.8 FANTOM5 ENCODE dbSUPER 252.2 +1.5 1495 0.4 JUND ZNF217 CHD2 EZH2 GATA3 HSALNG0076038 lnc-GATA3-23 ITIH5 GATA3-AS1
GH10J008050 Enhancer 0.5 ENCODE dbSUPER 250.7 +0.9 925 0.2 EZH2 CHD1 GATA3 lnc-GATA3-23 HSALNG0076038 GATA3-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GATA3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GATA3

Top Transcription factor binding sites by QIAGEN in the GATA3 gene promoter:
  • AML1a

Genomic Locations for GATA3 Gene

Latest Assembly
chr10:8,045,378-8,075,198
(GRCh38/hg38)
Size:
29,821 bases
Orientation:
Plus strand

Previous Assembly
chr10:8,096,651-8,117,161
(GRCh37/hg19 by Entrez Gene)
Size:
20,511 bases
Orientation:
Plus strand

chr10:8,095,567-8,117,161
(GRCh37/hg19 by Ensembl)
Size:
21,595 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 Structure • Gene Density

RefSeq DNA sequence for GATA3 Gene

Proteins for GATA3 Gene

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  • 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:
    • Interacts with TBX21 ('Tyr-530' phosphorylated form).

    Three dimensional structures from OCA and Proteopedia for GATA3 Gene

    Alternative splice isoforms for GATA3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GATA3 Gene

Protein Expression for GATA3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for GATA3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GATA3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for GATA3

No data available for DME Specific Peptides for GATA3 Gene

Domains & Families for GATA3 Gene

Gene Families for GATA3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for GATA3 Gene

InterPro:
Blocks:
  • Zn-finger, GATA type

Suggested Antigen Peptide Sequences for GATA3 Gene

GenScript: Design optimal peptide antigens:
  • GATA-binding factor 3 (GATA3_HUMAN)

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

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  6. Cell Lines for research

Molecular function for GATA3 Gene

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.
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

Phenotypes From GWAS Catalog for GATA3 Gene

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 IEA --
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 19674970
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0000987 proximal promoter sequence-specific DNA binding IDA 19232384
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 Models for research

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Nucleus.

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
plasma membrane 3
extracellular 3
cytosol 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GATA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IDA,ISA --
GO:0005634 nucleus IDA 19674970
GO:0005654 nucleoplasm TAS --
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

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for GATA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IBA 21873635
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

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(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 Anti-inflammatory glucocorticoid 3149
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 3864
Cytarabine Approved, Investigational Pharma 1376
Daunorubicin Approved Pharma DNA topoisomerase II inhibitor 399
Doxorubicin Approved, Investigational Pharma Topo II inhibitor,immunosuppresive antineoplastic antibiotic 2106

(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

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mRNA/cDNA for GATA3 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Expression for GATA3 Gene

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  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for GATA3 Gene
mRNA expression by BioGPS for GATA3 GenemRNA expression by GTEx 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, MaxQB, and MOPED for GATA3 Gene



Protein tissue co-expression partners for GATA3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(3.3)
  • Spleen(3)
  • Lymph node(3)
  • Kidney(2.8)
  • Nervous system(2.6)
  • Intestine(2.6)
  • Bone marrow(2.5)
  • Lung(2.5)
  • Heart(2.4)
  • Liver(2.2)
  • Muscle(2.1)

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
Regions:
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

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 29 30
  • 99.4 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia GATA3 30
  • 97 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia GATA3 29 30
  • 91.5 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia GATA3 29 30
  • 90.67 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Gata3 29 16 30
  • 89.89 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Gata3 29
  • 89.84 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia GATA3 30
  • 81 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves GATA3 29 30
  • 83.45 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia GATA3 30
  • 92 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia gata3 29
  • 76.54 (n)
Str.10665 29
African clawed frog
(Xenopus laevis)
 Amphibia Xl.793 29
Zebrafish
(Danio rerio)
 Actinopterygii gata3 29 30
  • 75 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta pnr 31
  • 78 (a)
grn 30 31
  • 26 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea elt-1 30 31
  • 25 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes DAL80 30
  • 15 (a)
 ManyToMany
GAT1 30
  • 15 (a)
 ManyToMany
GZF3 30
  • 11 (a)
 ManyToMany
GLN3 30
  • 11 (a)
 ManyToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 35 (a)
 OneToMany
Species where no ortholog for GATA3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GATA3: view image
Alliance of Genome Resources:
Additional Orthologs for GATA3

Paralogs for GATA3 Gene

Paralogs for GATA3 Gene

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

  • GATA3_HUMAN
genes like me logo Genes that share paralogs with GATA3: view

Variants for GATA3 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GATA3 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
1034340 Uncertain Significance: Hypoparathyroidism-deafness-renal disease syndrome 8,055,726(+) C/T
NM_001002295.2(GATA3):c.71C>T (p.Pro24Leu) 		MISSENSE
694354 Pathogenic: Hypoparathyroidism-deafness-renal disease syndrome 8,058,385(+) AC/A
NM_001002295.2(GATA3):c.324del (p.Ala109fs) 		FRAMESHIFT
869468 Pathogenic: Hypoparathyroidism-deafness-renal disease syndrome 8,069,509(+) T/A
NM_001002295.2(GATA3):c.961T>A (p.Cys321Ser) 		MISSENSE
870395 Pathogenic: Hypoparathyroidism-deafness-renal disease syndrome 8,058,488(+) C/CG
NM_001002295.2(GATA3):c.431dup (p.His145fs) 		FRAMESHIFT
877498 Uncertain Significance: Hypoparathyroidism-deafness-renal disease syndrome 8,055,616(+) G/A
NM_001002295.2(GATA3):c.-40G>A 		FIVE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GATA3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for GATA3 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for GATA3 Gene

MalaCards: The human disease database

(71) MalaCards diseases for GATA3 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
hypoparathyroidism, sensorineural deafness, and renal disease
  • hdr
end stage renal disease
  • end stage renal failure
chronic kidney disease
  • chronic kidney failure
hypoparathyroidism
  • hypoparathyroidism, idiopathic
renal dysplasia
  • kidney 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 variants affecting the gene represented in this entry.

Additional Disease Information for GATA3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GATA3: view

No data available for Genatlas for GATA3 Gene

Publications for GATA3 Gene

  1. GATA3 haplo-insufficiency causes human HDR syndrome. (PMID: 10935639) Van Esch H … Devriendt K (Nature 2000) 3 4 22 72
  2. Association of single nucleotide polymorphisms in GATA-3 with allergic rhinitis. (PMID: 18607915) Zhang L … Zhao Y (Acta oto-laryngologica 2009) 3 22 40
  3. No evidence that GATA3 rs570613 SNP modifies breast cancer risk. (PMID: 19082709) Johnatty SE … Breast Cancer Association Consortium and Consortium of Investigators of Modifiers of BRCA1/2 (Breast cancer research and treatment 2009) 3 22 40
  4. Polymorphisms in the interleukin 13 and GATA binding protein 3 genes and the development of eczema during childhood. (PMID: 18410415) Arshad SH … Ewart S (The British journal of dermatology 2008) 3 22 40
  5. Patterns of GATA3 and IL13 gene polymorphisms associated with childhood rhinitis and atopy in a birth cohort. (PMID: 18037162) Huebner M … Arshad SH (The Journal of allergy and clinical immunology 2008) 3 22 40

ExternalLinks

View latest publications for GATA3 gene in Mastermind

Products for GATA3 Gene

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Sources for GATA3 Gene