Human Gene GATA3 (ENST00000346208.4) from GENCODE V44
Description: Homo sapiens GATA binding protein 3 (GATA3), transcript variant 2, mRNA. (from RefSeq NM_002051) RefSeq Summary (NM_002051): 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]. Gencode Transcript: ENST00000346208.4 Gencode Gene: ENSG00000107485.18 Transcript (Including UTRs) Position: hg38 chr10:8,054,810-8,074,890 Size: 20,081 Total Exon Count: 6 Strand: + Coding Region Position: hg38 chr10:8,055,656-8,074,023 Size: 18,368 Coding Exon Count: 5
ID:GATA3_HUMAN DESCRIPTION: RecName: Full=Trans-acting T-cell-specific transcription factor GATA-3; AltName: Full=GATA-binding factor 3; 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'. SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: T-cells and endothelial cells. DOMAIN: Binds DNA via the 2 GATA-type zinc fingers (By similarity). DISEASE: Defects in GATA3 are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia (HDR) [MIM:146255]; also known as Barakat syndrome. SIMILARITY: Contains 2 GATA-type zinc fingers. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GATA3"; WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/gata3/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P23771
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000976 transcription regulatory region sequence-specific DNA binding GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000987 core promoter proximal region sequence-specific DNA binding GO:0001046 core promoter sequence-specific DNA binding GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001085 RNA polymerase II transcription factor binding GO:0001158 enhancer sequence-specific DNA binding GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0003677 DNA binding GO:0003682 chromatin binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0003713 transcription coactivator activity GO:0005134 interleukin-2 receptor binding GO:0005515 protein binding GO:0008134 transcription factor binding GO:0008270 zinc ion binding GO:0043565 sequence-specific DNA binding GO:0044212 transcription regulatory region DNA binding GO:0046872 metal ion binding GO:0046983 protein dimerization activity GO:0070888 E-box binding GO:0071837 HMG box domain binding
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0000902 cell morphogenesis GO:0001701 in utero embryonic development GO:0001709 cell fate determination GO:0001764 neuron migration GO:0001775 cell activation GO:0001806 type IV hypersensitivity GO:0001819 positive regulation of cytokine production GO:0001822 kidney development GO:0001823 mesonephros development GO:0002088 lens development in camera-type eye GO:0002376 immune system process GO:0002572 pro-T cell differentiation GO:0003180 aortic valve morphogenesis GO:0003215 cardiac right ventricle morphogenesis GO:0003281 ventricular septum development GO:0006338 chromatin remodeling GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0006366 transcription from RNA polymerase II promoter GO:0006952 defense response GO:0006959 humoral immune response GO:0007165 signal transduction GO:0007399 nervous system development GO:0007411 axon guidance GO:0007596 blood coagulation GO:0008285 negative regulation of cell proliferation GO:0008584 male gonad development GO:0009615 response to virus GO:0009653 anatomical structure morphogenesis GO:0009791 post-embryonic development GO:0009967 positive regulation of signal transduction GO:0010332 response to gamma radiation GO:0010595 positive regulation of endothelial cell migration GO:0010628 positive regulation of gene expression GO:0010629 negative regulation of gene expression GO:0010975 regulation of neuron projection development GO:0014065 phosphatidylinositol 3-kinase signaling GO:0016579 protein deubiquitination GO:0019221 cytokine-mediated signaling pathway GO:0030182 neuron differentiation GO:0030217 T cell differentiation GO:0030218 erythrocyte differentiation GO:0031929 TOR signaling GO:0032689 negative regulation of interferon-gamma production GO:0032703 negative regulation of interleukin-2 production GO:0032736 positive regulation of interleukin-13 production GO:0032753 positive regulation of interleukin-4 production GO:0032754 positive regulation of interleukin-5 production GO:0033077 T cell differentiation in thymus GO:0033600 negative regulation of mammary gland epithelial cell proliferation GO:0035162 embryonic hemopoiesis GO:0035457 cellular response to interferon-alpha GO:0035799 ureter maturation GO:0035898 parathyroid hormone secretion GO:0042035 regulation of cytokine biosynthetic process GO:0042421 norepinephrine biosynthetic process GO:0042472 inner ear morphogenesis GO:0042493 response to drug GO:0043370 regulation of CD4-positive, alpha-beta T cell differentiation GO:0043523 regulation of neuron apoptotic process GO:0043583 ear development GO:0043627 response to estrogen GO:0045061 thymic T cell selection GO:0045064 T-helper 2 cell differentiation GO:0045087 innate immune response GO:0045471 response to ethanol GO:0045582 positive regulation of T cell differentiation GO:0045597 positive regulation of cell differentiation GO:0045599 negative regulation of fat cell differentiation GO:0045786 negative regulation of cell cycle GO:0045892 negative regulation of transcription, DNA-templated GO:0045893 positive regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0048469 cell maturation GO:0048485 sympathetic nervous system development GO:0048538 thymus development GO:0048568 embryonic organ development GO:0048589 developmental growth GO:0048646 anatomical structure formation involved in morphogenesis GO:0048872 homeostasis of number of cells GO:0050728 negative regulation of inflammatory response GO:0050852 T cell receptor signaling pathway GO:0051569 regulation of histone H3-K4 methylation GO:0051897 positive regulation of protein kinase B signaling GO:0060017 parathyroid gland development GO:0060037 pharyngeal system development GO:0060065 uterus development GO:0060231 mesenchymal to epithelial transition GO:0060374 mast cell differentiation GO:0060676 ureteric bud formation GO:0061085 regulation of histone H3-K27 methylation GO:0061290 canonical Wnt signaling pathway involved in metanephric kidney development GO:0071345 cellular response to cytokine stimulus GO:0071353 cellular response to interleukin-4 GO:0071356 cellular response to tumor necrosis factor GO:0071442 positive regulation of histone H3-K14 acetylation GO:0071599 otic vesicle development GO:0071773 cellular response to BMP stimulus GO:0072001 renal system development GO:0072107 positive regulation of ureteric bud formation GO:0072178 nephric duct morphogenesis GO:0072179 nephric duct formation GO:0072182 regulation of nephron tubule epithelial cell differentiation GO:0072602 interleukin-4 secretion GO:0072643 interferon-gamma secretion GO:0072676 lymphocyte migration GO:0090102 cochlea development GO:1901536 negative regulation of DNA demethylation GO:1902036 regulation of hematopoietic stem cell differentiation GO:2000114 regulation of establishment of cell polarity GO:2000146 negative regulation of cell motility GO:2000352 negative regulation of endothelial cell apoptotic process GO:2000553 positive regulation of T-helper 2 cell cytokine production GO:2000607 negative regulation of cell proliferation involved in mesonephros development GO:2000611 positive regulation of thyroid hormone generation GO:2000617 positive regulation of histone H3-K9 acetylation GO:2000664 positive regulation of interleukin-5 secretion GO:2000667 positive regulation of interleukin-13 secretion GO:2000679 positive regulation of transcription regulatory region DNA binding GO:2000683 regulation of cellular response to X-ray GO:2000703 negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation GO:2000734 negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation
US Server
