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MGP001163

UniProt Annotations

Entry Information
Gene NameGATA binding protein 3
Protein EntryGATA3_HUMAN
UniProt IDP23771
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P23771-1; Sequence=Displayed; Name=2; IsoId=P23771-2; Sequence=VSP_001598;
DiseaseHypoparathyroidism, 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainBinds 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.
DomainThe YxKxHxxxRP motif is critical for DNA-binding and function. {ECO:0000250}.
FunctionTranscriptional 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. {ECO:0000269|PubMed:23824597}.
SimilarityContains 2 GATA-type zinc fingers. {ECO:0000255|PROSITE-ProRule:PRU00094}.
Subcellular LocationNucleus.
Tissue SpecificityT-cells and endothelial cells.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/GATA3ID107ch10p14.html";
Web ResourceName=SeattleSNPs; URL="http://pga.gs.washington.edu/data/gata3/";
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