mutated Ligand Binding Site gene DataBase





About Us

Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for GATA4
Gene summary
Basic gene Info.Gene symbolGATA4
Gene nameGATA binding protein 4
CytomapUCSC genome browser: 8p23.1-p22
Type of geneprotein-coding
DescriptionGATA-binding factor 4transcription factor GATA-4
Modification date20141207
dbXrefs MIM : 600576
Ensembl : ENSG00000136574
HPRD : 08994
Vega : OTTHUMG00000090800
ProteinUniProt: P43694
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_GATA4
BioGPS: 2626
PathwayNCI Pathway Interaction Database: GATA4
Pathway Commons: GATA4
ContextiHOP: GATA4
ligand binding site mutation search in PubMed: GATA4
UCL Cancer Institute: GATA4
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0045893positive regulation of transcription, DNA-templated24000169
GO:0045944positive regulation of transcription from RNA polymerase II promoter21330551
GO:0060575intestinal epithelial cell differentiation9566909

Ligand binding site mutations for GATA4
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.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for GATA4
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

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.
LBSAAchange of nsSNVRelative stability change
(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 GATA4 from PDB

Differential gene expression and gene-gene network for GATA4
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)
* Left PPI network was created from samples with mutations in the LBS of GATA4 and the right PPI network was created from samples without mutations in the LBS of GATA4. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for GATA4
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0039685Tetralogy of Fallot11Biomarker, GeneticVariation
umls:C0235833Hernias, Diaphragmatic, Congenital7Biomarker, GeneticVariation
umls:C0027051Myocardial Infarction3Biomarker, Therapeutic
umls:C0001973Alcoholism3Biomarker, GeneticVariation
umls:C0009404Colorectal Neoplasms2Biomarker, PostTranslationalModification
umls:C0019284Hernia, Diaphragmatic1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Pharmacological information for GATA4
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.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of GATA4 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of GATA4
Multiple alignments for P43694 in multiple species
LBSAA sequence# speciesSpecies
C238TGHYLCNACGL4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
C271RVGLSCANCQT4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
C274LSCANCQTTTT4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
C295PVCNACGLYMK4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris

Copyright © 2016-Present - The University of Texas Health Science Center at Houston
Site Policies | State of Texas