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NFAT5 (nuclear factor of activated T-cells 5, tonicity-responsive)

Identity

Alias_namesnuclear factor of activated T-cells 5
Alias_symbol (synonym)TONEBP
KIAA0827
NFATL1
OREBP
NFATZ
NF-AT5
Other alias
HGNC (Hugo) NFAT5
LocusID (NCBI) 10725
Atlas_Id 43657
Location 16q22.1  [Link to chromosome band 16q22]
Location_base_pair Starts at 69599869 and ends at 69738569 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CCND1 (11q13.3) / NFAT5 (16q22.1)NFAT5 (16q22.1) / FHOD1 (16q22.1)NFAT5 (16q22.1) / HHAT (1q32.2)
NFAT5 (16q22.1) / NFAT5 (16q22.1)NFAT5 (16q22.1) / SNTB2 (16q22.1)NFAT5 (16q22.1) / VPS4A (16q22.1)
NFAT5 (16q22.1) / WWP2 (16q22.1)USP24 (1p32.3) / NFAT5 (16q22.1)NFAT5 16q22.1 / FHOD1 16q22.1
NFAT5 16q22.1 / HHAT 1q32.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)NFAT5   7774
Cards
Entrez_Gene (NCBI)NFAT5  10725  nuclear factor of activated T-cells 5, tonicity-responsive
AliasesNF-AT5; NFATL1; NFATZ; OREBP; 
TONEBP
GeneCards (Weizmann)NFAT5
Ensembl hg19 (Hinxton)ENSG00000102908 [Gene_View]  chr16:69599869-69738569 [Contig_View]  NFAT5 [Vega]
Ensembl hg38 (Hinxton)ENSG00000102908 [Gene_View]  chr16:69599869-69738569 [Contig_View]  NFAT5 [Vega]
ICGC DataPortalENSG00000102908
TCGA cBioPortalNFAT5
AceView (NCBI)NFAT5
Genatlas (Paris)NFAT5
WikiGenes10725
SOURCE (Princeton)NFAT5
Genetics Home Reference (NIH)NFAT5
Genomic and cartography
GoldenPath hg19 (UCSC)NFAT5  -     chr16:69599869-69738569 +  16q22.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NFAT5  -     16q22.1   [Description]    (hg38-Dec_2013)
EnsemblNFAT5 - 16q22.1 [CytoView hg19]  NFAT5 - 16q22.1 [CytoView hg38]
Mapping of homologs : NCBINFAT5 [Mapview hg19]  NFAT5 [Mapview hg38]
OMIM604708   
Gene and transcription
Genbank (Entrez)AA291524 AA321843 AB020634 AF089824 AF134870
RefSeq transcript (Entrez)NM_001113178 NM_006599 NM_138713 NM_138714 NM_173214 NM_173215
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_029600 NT_010498 NW_004929402
Consensus coding sequences : CCDS (NCBI)NFAT5
Cluster EST : UnigeneHs.371987 [ NCBI ]
CGAP (NCI)Hs.371987
Alternative Splicing GalleryENSG00000102908
Gene ExpressionNFAT5 [ NCBI-GEO ]   NFAT5 [ EBI - ARRAY_EXPRESS ]   NFAT5 [ SEEK ]   NFAT5 [ MEM ]
Gene Expression Viewer (FireBrowse)NFAT5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10725
GTEX Portal (Tissue expression)NFAT5
Protein : pattern, domain, 3D structure
UniProt/SwissProtO94916   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO94916  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO94916
Splice isoforms : SwissVarO94916
PhosPhoSitePlusO94916
Domaine pattern : Prosite (Expaxy)REL_2 (PS50254)   
Domains : Interpro (EBI)Ig-like_fold    Ig_E-set    IPT    NFAT    NFAT5    p53-like_TF_DNA-bd    RHD_dimer    RHD_DNA_bind_dom   
Domain families : Pfam (Sanger)RHD_dimer (PF16179)    RHD_DNA_bind (PF00554)   
Domain families : Pfam (NCBI)pfam16179    pfam00554   
Domain families : Smart (EMBL)IPT (SM00429)  
Conserved Domain (NCBI)NFAT5
DMDM Disease mutations10725
Blocks (Seattle)NFAT5
PDB (SRS)1IMH   
PDB (PDBSum)1IMH   
PDB (IMB)1IMH   
PDB (RSDB)1IMH   
Structural Biology KnowledgeBase1IMH   
SCOP (Structural Classification of Proteins)1IMH   
CATH (Classification of proteins structures)1IMH   
SuperfamilyO94916
Human Protein AtlasENSG00000102908
Peptide AtlasO94916
HPRD05272
IPIIPI00217710   IPI00218771   IPI00218772   IPI00877627   IPI00514115   
Protein Interaction databases
DIP (DOE-UCLA)O94916
IntAct (EBI)O94916
FunCoupENSG00000102908
BioGRIDNFAT5
STRING (EMBL)NFAT5
ZODIACNFAT5
Ontologies - Pathways
QuickGOO94916
Ontology : AmiGORNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  cytokine production  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  cytoplasm  transcription from RNA polymerase II promoter  response to osmotic stress  signal transduction  excretion  positive regulation of transcription from RNA polymerase II promoter  regulation of calcineurin-NFAT signaling cascade  
Ontology : EGO-EBIRNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  cytokine production  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  cytoplasm  transcription from RNA polymerase II promoter  response to osmotic stress  signal transduction  excretion  positive regulation of transcription from RNA polymerase II promoter  regulation of calcineurin-NFAT signaling cascade  
NDEx NetworkNFAT5
Atlas of Cancer Signalling NetworkNFAT5
Wikipedia pathwaysNFAT5
Orthology - Evolution
OrthoDB10725
GeneTree (enSembl)ENSG00000102908
Phylogenetic Trees/Animal Genes : TreeFamNFAT5
HOVERGENO94916
HOGENOMO94916
Homologs : HomoloGeneNFAT5
Homology/Alignments : Family Browser (UCSC)NFAT5
Gene fusions - Rearrangements
Fusion : MitelmanNFAT5/FHOD1 [16q22.1/16q22.1]  
Fusion : MitelmanNFAT5/HHAT [16q22.1/1q32.2]  [t(1;16)(q32;q22)]  
Fusion : MitelmanNFAT5/SNTB2 [16q22.1/16q22.1]  [dup(16)(q22q22)]  
Fusion: TCGANFAT5 16q22.1 FHOD1 16q22.1 LUAD
Fusion: TCGANFAT5 16q22.1 HHAT 1q32.2 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNFAT5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NFAT5
dbVarNFAT5
ClinVarNFAT5
1000_GenomesNFAT5 
Exome Variant ServerNFAT5
ExAC (Exome Aggregation Consortium)NFAT5 (select the gene name)
Genetic variants : HAPMAP10725
Genomic Variants (DGV)NFAT5 [DGVbeta]
DECIPHER (Syndromes)16:69599869-69738569  ENSG00000102908
CONAN: Copy Number AnalysisNFAT5 
Mutations
ICGC Data PortalNFAT5 
TCGA Data PortalNFAT5 
Broad Tumor PortalNFAT5
OASIS PortalNFAT5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNFAT5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNFAT5
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch NFAT5
DgiDB (Drug Gene Interaction Database)NFAT5
DoCM (Curated mutations)NFAT5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NFAT5 (select a term)
intoGenNFAT5
Cancer3DNFAT5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604708   
Orphanet
MedgenNFAT5
Genetic Testing Registry NFAT5
NextProtO94916 [Medical]
TSGene10725
GENETestsNFAT5
Huge Navigator NFAT5 [HugePedia]
snp3D : Map Gene to Disease10725
BioCentury BCIQNFAT5
ClinGenNFAT5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10725
Chemical/Pharm GKB GenePA31581
Clinical trialNFAT5
Miscellaneous
canSAR (ICR)NFAT5 (select the gene name)
Probes
Litterature
PubMed82 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNFAT5
EVEXNFAT5
GoPubMedNFAT5
iHOPNFAT5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:18:42 CET 2017

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