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mutLBSgeneDB |
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| Gene summary for GATA3 |
 Gene summary |
| Basic gene Info. | Gene symbol | GATA3 |
| Gene name | GATA binding protein 3 | |
| Synonyms | HDR|HDRS | |
| Cytomap | UCSC genome browser: 10p15 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001002295.1, NM_002051.2, | |
| Description | GATA-binding factor 3trans-acting T-cell-specific transcription factor GATA-3 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 131320 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000107485 | ||
| HPRD : 00572 | ||
| Vega : OTTHUMG00000017640 | ||
| Protein | UniProt: P23771 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_GATA3 | |
| BioGPS: 2625 | ||
| Pathway | NCI Pathway Interaction Database: GATA3 | |
| KEGG: GATA3 | ||
| REACTOME: GATA3 | ||
| Pathway Commons: GATA3 | ||
| Context | iHOP: GATA3 | |
| ligand binding site mutation search in PubMed: GATA3 | ||
| UCL Cancer Institute: GATA3 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0033600 | negative regulation of mammary gland epithelial cell proliferation | 19483726 | GO:0045893 | positive regulation of transcription, DNA-templated | 19723756 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 19232384 | GO:0060231 | mesenchymal to epithelial transition | 20189993 | GO:0072676 | lymphocyte migration | 19805038 | GO:2000664 | positive regulation of interleukin-5 secretion | 20554961 | GO:2000667 | positive regulation of interleukin-13 secretion | 20554961 |
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| Ligand binding site mutations for GATA3 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | L343 | L343P | COAD | 3 | R364 | R364S | BRCA | 1 | R330 | R330K | BRCA | 1 | K292 | M293K | BRCA | 1 | K292 | M293R | BRCA | 1 | C317 | T315M | COAD | 1 | R275 | R275Q | COAD | 1 | R298 | R298Q | COAD | 1 | R276 | G278S | LUAD | 1 | C320 | T322S | LUAD | 1 | R366 | M368I | LUSC | 1 | T326 | T325A | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
| Clinical information for GATA3 from My Cancer Genome. |
| GATA binding protein 3 (GATA3) is a gene that encodes a transcription factor protein that contains two zinc fingers. The protein functions in immune regulation by regulating T-cell development. Missense mutations, nonsense mutations, silent mutations, frameshift insertions and deletions, and in-frame insertions and deletions are observed in cancers such as biliary tract cancer, breast cancer, and intestinal cancer.Modified: July 1, 2015 |
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| Protein structure related information for GATA3 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | R330 | R330K | -1.2828945 | K292 | M293K | -1.1210692 | L343 | L343P | -1.0905307 | R275 | R275Q | -1.0864618 | C320 | T322S | -1.0729467 | K292 | M293R | -0.89600972 | R276 | G278S | -0.80063153 | T326 | T325A | -0.79524746 | R366 | M368I | -0.73196377 | R298 | R298Q | -0.69246392 | R364 | R364S | -0.51726503 | C317 | T315M | -0.2934224 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for GATA3 from PDB |
| PDB ID | PDB title | PDB structure | 4HC7 | Crystal structure of the full DNA binding domain of GATA3-complex 2 |  |
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| Differential gene expression and gene-gene network for GATA3 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for GATA3 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1840333 | Barakat syndrome | 22 | Biomarker, GeneticVariation |
| umls:C0007097 | Carcinoma | 7 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0019829 | Hodgkin Disease | 4 | Biomarker, GeneticVariation |
| umls:C0003873 | Arthritis, Rheumatoid | 3 | Biomarker |
| umls:C0021368 | Inflammation | 1 | Biomarker |
| umls:C0024667 | Mammary Neoplasms, Animal | 1 | Biomarker |
| umls:C0024668 | Mammary Neoplasms, Experimental | 1 | Biomarker |
| umls:C0023485 | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for GATA3 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of GATA3 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 4hc9 | A | R276 | NUC | Nucleic Acids | 4hc9 | A | R276 | NUC | Nucleic Acids | 4hc7 | B | R276 R330 | NUC | Nucleic Acids | 4hc7 | B | R276 R330 | NUC | Nucleic Acids | 4hca | A | R276 R330 | NUC | Nucleic Acids | 4hca | A | R276 R330 | NUC | Nucleic Acids | 4hc7 | A | R330 | NUC | Nucleic Acids | 4hc7 | A | R330 |
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| Conservation information for LBS of GATA3 |
| Multiple alignments for P23771 in multiple species |
| LBS | AA sequence | # species | Species | A286 | HYLCNACGLYH | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | C284 | TGHYLCNACGL | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | C317 | RAGTSCANCQT | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | C320 | TSCANCQTTTT | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | C341 | PVCNACGLYYK | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | H348 | LYYKLHNINRP | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | K292 | CGLYHKMNGQN | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | K346 | CGLYYKLHNIN | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | K358 | PLTMKKEGIQT | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | L273 | ATSTPLWRRDG | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | L289 | CNACGLYHKMN | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | L327 | TTTTTLWRRNA | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | L343 | CNACGLYYKLH | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | M356 | NRPLTMKKEGI | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | N20 | HPAVLNGQHPD | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | N20 | TV----GQHPE | 1 | Danio rerio | N285 | GHYLCNACGLY | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | N365 | GIQTRNRKMSS | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | P272 | GATSTPLWRRD | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | Q362 | KKEGIQTRNRK | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | R261 | SST-GRECVNC | 2 | Homo sapiens, Bos taurus | R261 | SSTEGRECVNC | 2 | Gallus gallus, Mus musculus | R261 | SSSEGRECVNC | 1 | Danio rerio | R275 | STPLWRRDGTG | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | R276 | TPLWRRDGTGH | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | R298 | MNGQNRPLIKP | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | R329 | TTTLWRRNANG | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | R330 | TTLWRRNANGD | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | R352 | LHNINRPLTMK | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | R364 | EGIQTRNRKMS | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | R366 | IQTRNRKMSSK | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | T326 | QTTTTTLWRRN | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | T363 | KEGIQTRNRKM | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | W274 | TSTPLWRRDGT | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | W328 | TTTTLWRRNAN | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | Y282 | DGTGHYLCNAC | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | Y290 | NACGLYHKMNG | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | Y344 | NACGLYYKLHN | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus |
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