mutLBSgeneDB |
Gene summary for NFAT5 |
Gene summary |
Basic gene Info. | Gene symbol | NFAT5 |
Gene name | nuclear factor of activated T-cells 5, tonicity-responsive | |
Synonyms | NF-AT5|NFATL1|NFATZ|OREBP|TONEBP | |
Cytomap | UCSC genome browser: 16q22.1 | |
Type of gene | protein-coding | |
RefGenes | NM_001113178.2, NM_006599.3,NM_138713.3,NM_138714.3,NM_173214.2, NM_173215.2, | |
Description | NFAT-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 date | 20141222 | |
dbXrefs | MIM : 604708 | |
HGNC : HGNC | ||
Ensembl : ENSG00000102908 | ||
HPRD : 05272 | ||
Vega : OTTHUMG00000137572 | ||
Protein | UniProt: O94916 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_NFAT5 | |
BioGPS: 10725 | ||
Pathway | NCI Pathway Interaction Database: NFAT5 | |
KEGG: NFAT5 | ||
REACTOME: NFAT5 | ||
Pathway Commons: NFAT5 | ||
Context | iHOP: NFAT5 | |
ligand binding site mutation search in PubMed: NFAT5 | ||
UCL Cancer Institute: NFAT5 | ||
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:0045944 | positive regulation of transcription from RNA polymerase II promoter | 11485737 |
Top |
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 |
LBS | AAchange of nsSNV | Cancer type | # samples | N392 | A393G | OV | 1 | K468 | K468N | UCEC | 1 | T409 | T409I | 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. |
Top |
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. |
LBS | AAchange of nsSNV | Relative stability change | N392 | A393G | -1.3200273 | K468 | K468N | -1.1951053 | T409 | T409I | -0.52199013 |
(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 |
Top |
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) |
Top |
Top |
Phenotype information for NFAT5 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
Top |
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 status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of NFAT5 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
Top |
Conservation information for LBS of NFAT5 |
Multiple alignments for O94916 in multiple species |
LBS | AA sequence | # species | Species | E299 | ARYLTEGSRGS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G300 | RYLTEGSRGSV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G303 | TEGSRGSVKDR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K389 | CVGILKLRNAD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K407 | AGSKKKSTRAR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K468 | VFLIGKNFLKG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N392 | ILKLRNADVEA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q440 | PILCTQPAGVP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R293 | PETQHRARYLT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R295 | TQHRARYLTEG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R302 | LTEGSRGSVKD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R391 | GILKLRNADVE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S301 | YLTEGSRGSVK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T298 | RARYLTEGSRG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T409 | SKKKSTRARLV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y296 | QHRARYLTEGS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |