mutated Ligand Binding Site gene DataBase





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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 NFAT5
Gene summary
Basic gene Info.Gene symbolNFAT5
Gene namenuclear factor of activated T-cells 5, tonicity-responsive
CytomapUCSC genome browser: 16q22.1
Type of geneprotein-coding
DescriptionNFAT-like protein 1T-cell transcription factor NFAT5TonE-binding proteinglutamine rich protein H65nuclear factor of activated T-cells 5osmotic response element-binding proteintonicity-responsive enhancer-binding protein
Modification date20141222
dbXrefs MIM : 604708
Ensembl : ENSG00000102908
HPRD : 05272
Vega : OTTHUMG00000137572
ProteinUniProt: O94916
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_NFAT5
BioGPS: 10725
PathwayNCI Pathway Interaction Database: NFAT5
Pathway Commons: NFAT5
ContextiHOP: NFAT5
ligand binding site mutation search in PubMed: NFAT5
UCL Cancer Institute: NFAT5
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0045944positive regulation of transcription from RNA polymerase II promoter11485737

Ligand binding site mutations for NFAT5
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 NFAT5
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 NFAT5 from PDB

Differential gene expression and gene-gene network for NFAT5
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 NFAT5 and the right PPI network was created from samples without mutations in the LBS of NFAT5. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for NFAT5
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

Pharmacological information for NFAT5
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 NFAT5 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of NFAT5
Multiple alignments for O94916 in multiple species
LBSAA sequence# speciesSpecies
E299ARYLTEGSRGS3Homo sapiens, Mus musculus, Rattus norvegicus
G300RYLTEGSRGSV3Homo sapiens, Mus musculus, Rattus norvegicus
G303TEGSRGSVKDR3Homo sapiens, Mus musculus, Rattus norvegicus
K389CVGILKLRNAD3Homo sapiens, Mus musculus, Rattus norvegicus
K407AGSKKKSTRAR3Homo sapiens, Mus musculus, Rattus norvegicus
K468VFLIGKNFLKG3Homo sapiens, Mus musculus, Rattus norvegicus
N392ILKLRNADVEA3Homo sapiens, Mus musculus, Rattus norvegicus
Q440PILCTQPAGVP3Homo sapiens, Mus musculus, Rattus norvegicus
R293PETQHRARYLT3Homo sapiens, Mus musculus, Rattus norvegicus
R295TQHRARYLTEG3Homo sapiens, Mus musculus, Rattus norvegicus
R302LTEGSRGSVKD3Homo sapiens, Mus musculus, Rattus norvegicus
R391GILKLRNADVE3Homo sapiens, Mus musculus, Rattus norvegicus
S301YLTEGSRGSVK3Homo sapiens, Mus musculus, Rattus norvegicus
T298RARYLTEGSRG3Homo sapiens, Mus musculus, Rattus norvegicus
T409SKKKSTRARLV3Homo sapiens, Mus musculus, Rattus norvegicus
Y296QHRARYLTEGS3Homo sapiens, Mus musculus, Rattus norvegicus

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