ENSG00000107485


Homo sapiens

Features
Gene ID: ENSG00000107485
  
Biological name :GATA3
  
Synonyms : GATA3 / GATA binding protein 3 / P23771
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: 1
Band: p14
Gene start: 8045378
Gene end: 8075203
  
Corresponding Affymetrix probe sets: 209602_s_at (Human Genome U133 Plus 2.0 Array)   209603_at (Human Genome U133 Plus 2.0 Array)   209604_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000368632
Ensembl peptide - ENSP00000341619
Ensembl peptide - ENSP00000494284
Ensembl peptide - ENSP00000494926
Ensembl peptide - ENSP00000493486
NCBI entrez gene - 2625     See in Manteia.
OMIM - 131320
RefSeq - XM_005252443
RefSeq - NM_001002295
RefSeq - NM_002051
RefSeq - XM_005252442
RefSeq Peptide - NP_001002295
RefSeq Peptide - NP_002042
swissprot - P23771
Ensembl - ENSG00000107485
  
Related genetic diseases (OMIM): 146255 - Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 gata3ENSDARG00000016526Danio rerio
 GATA3ENSGALG00000029270Gallus gallus
 Gata3ENSMUSG00000015619Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GATA2 / P23769 / GATA binding protein 2ENSG0000017934867
GATA1 / P15976 / GATA binding protein 1ENSG0000010214534
GATA4 / P43694 / GATA binding protein 4ENSG0000013657432
GATA6 / Q92908 / GATA binding protein 6ENSG0000014144832
GATA5 / Q9BWX5 / GATA binding protein 5ENSG0000013070029
TRPS1 / Q9UHF7 / transcriptional repressor GATA binding 1ENSG0000010444724


Protein motifs (from Interpro)
Interpro ID Name
 IPR000679  Zinc finger, GATA-type
 IPR013088  Zinc finger, NHR/GATA-type
 IPR016374  Transcription factor, GATA-2/3
 IPR029521  Transcription factor GATA-3


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0000902 cell morphogenesis IEA
 biological_processGO:0001701 in utero embryonic development IEA
 biological_processGO:0001709 cell fate determination ISS
 biological_processGO:0001764 neuron migration IEA
 biological_processGO:0001775 cell activation IEA
 biological_processGO:0001806 type IV hypersensitivity IEA
 biological_processGO:0001819 positive regulation of cytokine production IEA
 biological_processGO:0001822 kidney development IMP
 biological_processGO:0001823 mesonephros development ISS
 biological_processGO:0002088 lens development in camera-type eye IEA
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0002572 pro-T cell differentiation IEA
 biological_processGO:0003180 aortic valve morphogenesis ISS
 biological_processGO:0003215 cardiac right ventricle morphogenesis ISS
 biological_processGO:0003281 ventricular septum development ISS
 biological_processGO:0006338 chromatin remodeling IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006366 transcription by RNA polymerase II TAS
 biological_processGO:0006952 defense response TAS
 biological_processGO:0006959 humoral immune response IEA
 biological_processGO:0007165 signal transduction ISS
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0007411 axon guidance IEA
 biological_processGO:0007596 blood coagulation TAS
 biological_processGO:0008285 negative regulation of cell proliferation ISS
 biological_processGO:0008584 male gonad development ISS
 biological_processGO:0009615 response to virus IEP
 biological_processGO:0009653 anatomical structure morphogenesis TAS
 biological_processGO:0009791 post-embryonic development IEA
 biological_processGO:0009967 positive regulation of signal transduction IMP
 biological_processGO:0010332 response to gamma radiation IEA
 biological_processGO:0010595 positive regulation of endothelial cell migration IMP
 biological_processGO:0010628 positive regulation of gene expression IEA
 biological_processGO:0010629 negative regulation of gene expression IEA
 biological_processGO:0010975 regulation of neuron projection development IEA
 biological_processGO:0014065 phosphatidylinositol 3-kinase signaling ISS
 biological_processGO:0016579 protein deubiquitination TAS
 biological_processGO:0019221 cytokine-mediated signaling pathway TAS
 biological_processGO:0030182 neuron differentiation IEA
 biological_processGO:0030217 T cell differentiation IEA
 biological_processGO:0030218 erythrocyte differentiation IEA
 biological_processGO:0031929 TOR signaling ISS
 biological_processGO:0032689 negative regulation of interferon-gamma production IEA
 biological_processGO:0032703 negative regulation of interleukin-2 production IEA
 biological_processGO:0032736 positive regulation of interleukin-13 production IEA
 biological_processGO:0032753 positive regulation of interleukin-4 production ISS
 biological_processGO:0032754 positive regulation of interleukin-5 production IEA
 biological_processGO:0033077 T cell differentiation in thymus IEA
 biological_processGO:0033600 negative regulation of mammary gland epithelial cell proliferation IDA
 biological_processGO:0035162 embryonic hemopoiesis IEA
 biological_processGO:0035457 cellular response to interferon-alpha IEP
 biological_processGO:0035799 ureter maturation IEA
 biological_processGO:0035898 parathyroid hormone secretion IEA
 biological_processGO:0042035 regulation of cytokine biosynthetic process ISS
 biological_processGO:0042421 norepinephrine biosynthetic process ISS
 biological_processGO:0042472 inner ear morphogenesis IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0043370 regulation of CD4-positive, alpha-beta T cell differentiation IEA
 biological_processGO:0043523 regulation of neuron apoptotic process IEA
 biological_processGO:0043583 ear development IMP
 biological_processGO:0043627 response to estrogen IEP
 biological_processGO:0045061 thymic T cell selection IEA
 biological_processGO:0045064 T-helper 2 cell differentiation IEA
 biological_processGO:0045087 innate immune response IEA
 biological_processGO:0045471 response to ethanol IEA
 biological_processGO:0045582 positive regulation of T cell differentiation ISS
 biological_processGO:0045597 positive regulation of cell differentiation IEA
 biological_processGO:0045599 negative regulation of fat cell differentiation IMP
 biological_processGO:0045786 negative regulation of cell cycle IMP
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IMP
 biological_processGO:0045893 positive regulation of transcription, DNA-templated ISS
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II ISS
 biological_processGO:0048469 cell maturation IEA
 biological_processGO:0048485 sympathetic nervous system development ISS
 biological_processGO:0048538 thymus development IEA
 biological_processGO:0048568 embryonic organ development IEA
 biological_processGO:0048589 developmental growth IEA
 biological_processGO:0048646 anatomical structure formation involved in morphogenesis ISS
 biological_processGO:0048872 homeostasis of number of cells IEA
 biological_processGO:0050728 negative regulation of inflammatory response IMP
 biological_processGO:0050852 T cell receptor signaling pathway ISS
 biological_processGO:0051569 regulation of histone H3-K4 methylation IEA
 biological_processGO:0051897 positive regulation of protein kinase B signaling IMP
 biological_processGO:0060017 parathyroid gland development IEA
 biological_processGO:0060037 pharyngeal system development ISS
 biological_processGO:0060065 uterus development ISS
 biological_processGO:0060231 mesenchymal to epithelial transition IDA
 biological_processGO:0060374 mast cell differentiation IEA
 biological_processGO:0060676 ureteric bud formation ISS
 biological_processGO:0061085 regulation of histone H3-K27 methylation IEA
 biological_processGO:0061290 canonical Wnt signaling pathway involved in metanephric kidney development ISS
 biological_processGO:0071345 cellular response to cytokine stimulus IEA
 biological_processGO:0071353 cellular response to interleukin-4 IEP
 biological_processGO:0071356 cellular response to tumor necrosis factor IEP
 biological_processGO:0071442 positive regulation of histone H3-K14 acetylation IEA
 biological_processGO:0071599 otic vesicle development IEA
 biological_processGO:0071773 cellular response to BMP stimulus IEA
 biological_processGO:0072001 renal system development IEA
 biological_processGO:0072107 positive regulation of ureteric bud formation ISS
 biological_processGO:0072178 nephric duct morphogenesis ISS
 biological_processGO:0072179 nephric duct formation ISS
 biological_processGO:0072182 regulation of nephron tubule epithelial cell differentiation ISS
 biological_processGO:0072602 interleukin-4 secretion IEA
 biological_processGO:0072643 interferon-gamma secretion IEA
 biological_processGO:0072676 lymphocyte migration IDA
 biological_processGO:0090102 cochlea development IEA
 biological_processGO:1901536 negative regulation of DNA demethylation IEA
 biological_processGO:1902036 regulation of hematopoietic stem cell differentiation TAS
 biological_processGO:2000114 regulation of establishment of cell polarity IEA
 biological_processGO:2000146 negative regulation of cell motility IMP
 biological_processGO:2000352 negative regulation of endothelial cell apoptotic process IMP
 biological_processGO:2000553 positive regulation of T-helper 2 cell cytokine production IEA
 biological_processGO:2000607 negative regulation of cell proliferation involved in mesonephros development ISS
 biological_processGO:2000611 positive regulation of thyroid hormone generation IMP
 biological_processGO:2000617 positive regulation of histone H3-K9 acetylation IEA
 biological_processGO:2000664 positive regulation of interleukin-5 secretion IDA
 biological_processGO:2000667 positive regulation of interleukin-13 secretion IMP
 biological_processGO:2000679 positive regulation of transcription regulatory region DNA binding IMP
 biological_processGO:2000683 regulation of cellular response to X-ray IMP
 biological_processGO:2000703 negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation ISS
 biological_processGO:2000734 negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation ISS
 cellular_componentGO:0000790 nuclear chromatin IDA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005667 transcription factor complex IBA
 molecular_functionGO:0000976 transcription regulatory region sequence-specific DNA binding IDA
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0000987 proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0001046 core promoter sequence-specific DNA binding IDA
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IMP
 molecular_functionGO:0001085 RNA polymerase II transcription factor binding IBA
 molecular_functionGO:0001158 enhancer sequence-specific DNA binding IEA
 molecular_functionGO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
 molecular_functionGO:0003677 DNA binding TAS
 molecular_functionGO:0003682 chromatin binding IBA
 molecular_functionGO:0003700 DNA-binding transcription factor activity TAS
 molecular_functionGO:0003713 transcription coactivator activity IDA
 molecular_functionGO:0005134 interleukin-2 receptor binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008134 transcription factor binding IPI
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0043565 sequence-specific DNA binding IEA
 molecular_functionGO:0044212 transcription regulatory region DNA binding IDA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0046983 protein dimerization activity IEA
 molecular_functionGO:0070888 E-box binding IDA
 molecular_functionGO:0071837 HMG box domain binding IPI


Pathways (from Reactome)
Pathway description
Ub-specific processing proteases
Interleukin-4 and Interleukin-13 signaling
RUNX1 regulates transcription of genes involved in differentiation of HSCs
Estrogen-dependent gene expression
Factors involved in megakaryocyte development and platelet production


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show

 HP:0000076 Vesicoureteral reflux "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:curators]
Show

 HP:0000083 Renal failure 
Show

 HP:0000100 Nephrotic syndrome 
Show

 HP:0000110 Renal dysplasia 
Show

 HP:0000113 Polycystic kidney 
Show

 HP:0000122 Unilateral renal agenesis 
Show

 HP:0000126 Hydronephrosis 
Show

 HP:0000148 Vaginal atresia 
Show

 HP:0000151 Absent uterus 
Show

 HP:0000175 Cleft palate "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators]
Show

 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
Show

 HP:0000408 Hearing loss, sensorineural, progressive 
Show

 HP:0000510 Retinitis pigmentosa "Hereditary degeneration and atrophy of the retina." [HPO:curators]
Show

 HP:0000819 Diabetes mellitus 
Show

 HP:0000829 Hypoparathyroidism 
Show

 HP:0000860 Parathyroid hypoplasia 
Show

 HP:0001153 Septate vagina "The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases." [HPO:curators]
Show

 HP:0001627 Cardiac abnormality "An abnormality of the `heart` (FMA:7088)." [HPO:probinson]
Show

 HP:0002199 Seizures due to hypocalcemia 
Show

 HP:0003762 Uterus didelphys 
Show

 HP:0003765 Psoriasis 
Show

 HP:0004722 Thickening of the glomerular basement membrane on renal biopsy 
Show

 HP:0008850 Postnatal growth retardation, severe 
Show

 HP:0011840 Abnormality of T cell physiology "A deviation from the normal count of `T cells` (CL:0000084)." [HPO:probinson]
Show

 HP:0012622 Chronic kidney disease "Functional anomaly of the kidney persisting for at least three months." [Eurenomics:ewuehl]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000108654 DDX5 / P17844 / DEAD-box helicase 5  / complex / reaction
 ENSG00000129514 FOXA1 / P55317 / forkhead box A1  / complex / reaction
 ENSG00000112592 TBP / P20226 / TATA-box binding protein  / complex / reaction
 ENSG00000143258 USP21 / Q9UK80 / ubiquitin specific peptidase 21  / complex
 ENSG00000091831 ESR1 / P03372 / estrogen receptor 1  / complex / reaction
 ENSG00000100393 EP300 / Q09472 / E1A binding protein p300  / complex / reaction
 ENSG00000100811 YY1 / P25490 / YY1 transcription factor  / reaction
 ENSG00000142453 CARM1 / Q86X55 / coactivator associated arginine methyltransferase 1  / reaction / complex
 ENSG00000140307 GTF2A2 / P52657 / general transcription factor IIA subunit 2  / complex / reaction
 ENSG00000275714 P68431 / HIST1H3A / histone cluster 1 H3 family member a  / complex / reaction
 ENSG00000165417 GTF2A1 / P52655 / general transcription factor IIA subunit 1  / reaction / complex
 ENSG00000116478 HDAC1 / Q13547 / histone deacetylase 1  / reaction
 ENSG00000276180 P62805 / HIST1H4I / histone cluster 1 H4 family member i  / reaction / complex
 ENSG00000126457 PRMT1 / Q99873 / protein arginine methyltransferase 1  / complex / reaction
 ENSG00000183598 Q71DI3 / HIST2H3D / histone cluster 2 H3 family member d  / complex / reaction
 ENSG00000132475 H3F3B / P84243 / H3 histone family member 3B  / complex / reaction






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr