GATA3

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]

GATA Binding Protein 3

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. Positively regulates ASB2 expression (By similarity).

Anatomical structure formation involved in morphogenesis Source: UniProtKB
Anatomical structure morphogenesis Source: ProtInc
Aortic valve morphogenesis Source: UniProtKB
Axon guidance Source: Ensembl
Canonical Wnt signaling pathway involved in metanephric kidney development Source: UniProtKB
Cardiac right ventricle morphogenesis Source: UniProtKB
Cell fate commitment Source: GO_Central
Cell fate determination Source: UniProtKB
Cell maturation Source: Ensembl
Cellular response to BMP stimulus Source: Ensembl
Cellular response to interferon-alpha Source: UniProtKB
Cellular response to interleukin-4 Source: UniProtKB
Cellular response to tumor necrosis factor Source: UniProtKB
Chromatin remodeling Source: Ensembl
Cochlea development Source: Ensembl
Defense response Source: ProtInc
Developmental growth Source: Ensembl
Ear development Source: UniProtKB
Embryonic hemopoiesis Source: Ensembl
Embryonic organ development Source: GO_Central
Erythrocyte differentiation Source: Ensembl
Humoral immune response Source: Ensembl
Immune system development Source: GO_Central
Innate immune response Source: UniProtKB-KW
Inner ear morphogenesis Source: Ensembl
In utero embryonic development Source: Ensembl
Kidney development Source: UniProtKB
Lens development in camera-type eye Source: Ensembl
Lymphocyte migration Source: UniProtKB
Male gonad development Source: UniProtKB
Mast cell differentiation Source: Ensembl
Mesenchymal to epithelial transition Source: UniProtKB
Mesonephros development Source: UniProtKB
Negative regulation of cell cycle Source: UniProtKB
Negative regulation of cell motility Source: UniProtKB
Negative regulation of cell population proliferation Source: UniProtKB
Negative regulation of cell proliferation involved in mesonephros development Source: UniProtKB
Negative regulation of DNA demethylation Source: Ensembl
Negative regulation of endothelial cell apoptotic process Source: UniProtKB
Negative regulation of epithelial to mesenchymal transition Source: BHF-UCL
Negative regulation of fat cell differentiation Source: UniProtKB
Negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation Source: UniProtKB
Negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation Source: UniProtKB
Negative regulation of inflammatory response Source: UniProtKB
Negative regulation of interferon-gamma production Source: Ensembl
Negative regulation of interleukin-2 production Source: Ensembl
Negative regulation of mammary gland epithelial cell proliferation Source: UniProtKB
Negative regulation of transcription, DNA-templated Source: UniProtKB
Negative regulation of transcription by RNA polymerase II Source: GO_Central
Nephric duct formation Source: UniProtKB
Nephric duct morphogenesis Source: UniProtKB
Neuron migration Source: Ensembl
Norepinephrine biosynthetic process Source: UniProtKB
Otic vesicle development Source: Ensembl
Parathyroid gland development Source: Ensembl
Parathyroid hormone secretion Source: Ensembl
Pharyngeal system development Source: UniProtKB
Phosphatidylinositol 3-kinase signaling Source: UniProtKB
Positive regulation of endothelial cell migration Source: UniProtKB
Positive regulation of histone H3-K14 acetylation Source: Ensembl
Positive regulation of histone H3-K9 acetylation Source: Ensembl
Positive regulation of interleukin-13 production Source: UniProtKB
Positive regulation of interleukin-4 production Source: UniProtKB
Positive regulation of interleukin-5 production Source: UniProtKB
Positive regulation of pri-miRNA transcription by RNA polymerase II Source: BHF-UCL
Positive regulation of protein kinase B signaling Source: UniProtKB
Positive regulation of signal transduction Source: UniProtKB
Positive regulation of T cell differentiation Source: UniProtKB
Positive regulation of T-helper 2 cell cytokine production Source: Ensembl
Positive regulation of thyroid hormone generation Source: UniProtKB
Positive regulation of transcription, DNA-templated Source: UniProtKB
Positive regulation of transcription by RNA polymerase II Source: UniProtKB
Positive regulation of transcription regulatory region DNA binding Source: UniProtKB
Positive regulation of ureteric bud formation Source: UniProtKB
Post-embryonic development Source: Ensembl
Pro-T cell differentiation Source: Ensembl
Regulation of CD4-positive, alpha-beta T cell differentiation Source: Ensembl
Regulation of cellular response to X-ray Source: UniProtKB
Regulation of cytokine production Source: UniProtKB
Regulation of epithelial cell differentiation Source: GO_Central
Regulation of establishment of cell polarity Source: Ensembl
Regulation of histone H3-K27 methylation Source: Ensembl
Regulation of histone H3-K4 methylation Source: Ensembl
Regulation of nephron tubule epithelial cell differentiation Source: UniProtKB
Regulation of neuron apoptotic process Source: Ensembl
Regulation of neuron projection development Source: Ensembl
Regulation of transcription by RNA polymerase II Source: GO_Central
Response to drug Source: Ensembl
Response to estrogen Source: UniProtKB
Response to ethanol Source: Ensembl
Response to gamma radiation Source: Ensembl
Response to virus Source: UniProtKB
Signal transduction Source: UniProtKB
Sympathetic nervous system development Source: UniProtKB
T cell differentiation Source: MGI
T cell receptor signaling pathway Source: UniProtKB
T-helper 2 cell differentiation Source: Ensembl
Thymic T cell selection Source: Ensembl
Thymus development Source: Ensembl
TOR signaling Source: UniProtKB
Type IV hypersensitivity Source: Ensembl
Ureteric bud formation Source: UniProtKB
Ureter maturation Source: Ensembl
Ureter morphogenesis Source: Ensembl
Uterus development Source: UniProtKB
Ventricular septum development Source: UniProtKB

Nucleus

Hypoparathyroidism, sensorineural deafness, and renal disease (HDR):
A disease characterized by steroid-resistant nephrosis with progressive renal failure, hypoparathyroidism, sensorineural deafness, and renal dysplasia.