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GIFtS

NFAT5 Gene

protein-coding   GIFtS: 65
GCID: GC16P069599

nuclear factor of activated T-cells 5, tonicity-responsive
 Explore 12 diseases affiliated with
NFAT5 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NFAT5    

Aliases
for NFAT5 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Nuclear Factor Of Activated T-Cells 5, Tonicity-Responsive1 2     TonE-Binding Protein2 3
NF-AT51 2 3     Glutamine Rich Protein H652
TONEBP1 2 3     NFAT-Like Protein 12
NFATL11 2     Nuclear Factor Of Activated T-Cells 52
NFATZ1 2     Osmotic Response Element-Binding Protein2
OREBP1 2     TonEBP3
KIAA08271 3     EC 3.6.18
Tonicity-Responsive Enhancer-Binding Protein2 3     EC 3.6.3.148
T-Cell Transcription Factor NFAT52 3     

External Ids:    HGNC: 77741   Entrez Gene: 107252   Ensembl: ENSG000001029087   OMIM: 6047085   UniProtKB: O949163   

Export aliases for NFAT5 gene to outside databases

Previous GC identifers: GC16P060284 GC16P069977 GC16P069334 GC16P069375 GC16P068156 GC16P055477


Summaries
for NFAT5 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for NFAT5:
The product of this gene is a member of the nuclear factors of activated T cells family of transcription factors.
Proteins belonging to this family play a central role in inducible gene transcription during the immune response. This
protein regulates gene expression induced by osmotic stress in mammalian cells. Unlike monomeric members of this
protein family, this protein exists as a homodimer and forms stable dimers with DNA elements. Multiple transcript
variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: NFAT5_HUMAN, O94916
Function: Plays a role in the inducible expression of genes. Regulates hypertonicity-induced cellular accumulation of
osmolytes

Gene Wiki entry for NFAT5


Genomic Views
for NFAT5 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NFAT5 gene promoter:
         AP-1   ATF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NFAT5 promoter sequence
   Search SABiosciences Chromatin IP Primers for NFAT5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NFAT5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q22.1   Ensembl cytogenetic band:  16q22.1   HGNC cytogenetic band: 16q22.1

NFAT5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NFAT5 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P069599:  view genomic region     (about GC identifiers)

Start:
 69,598,997 bp from pter      End:
 69,738,569 bp from pter
Size:
 139,573 bases      Orientation:
 plus strand

Proteins
for NFAT5 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: NFAT5_HUMAN, O94916 (See protein sequence)
Recommended Name: Nuclear factor of activated T-cells 5  
Size: 1531 amino acids; 165763 Da
Subunit: Homodimer when bound to DNA, completely encircles its DNA target. Does not bind with Fos and Jun transcription
factors
Subcellular location: Nucleus
Sequence caution: Sequence=BAA74850.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=CAB09693.1; Type=Frameshift; Positions=1164;
1 PDB 3D structure from and Proteopedia for NFAT5:
1IMH (3D)    
Secondary accessions: A2RRB4 A6H8V5 O95693 Q9UN18
Alternative splicing: 4 isoforms:  O94916-1   O94916-2   O94916-3   O94916-4   

Explore the universe of human proteins at neXtProt for NFAT5: NX_O94916

Post-translational modifications:

  • Phosphorylated at Thr-135 by CDK5 in response to osmotic stress; this phosphorylation mediates its rapid nuclear
    • localization1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O94916

    • 2 DME Specific Peptides for NFAT5 (O94916)
     TTVIEVG  NQKGTGV 

    NFAT5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (6 alternative transcripts): 
    NP_001106649.1  NP_006590.1  NP_619727.2  NP_619728.2  NP_775321.1  NP_775322.1  

    ENSEMBL proteins: 
     ENSP00000413126   ENSP00000346420   ENSP00000455115   ENSP00000457593   ENSP00000377343  
     ENSP00000455628   ENSP00000463214   ENSP00000462061   ENSP00000396538   ENSP00000338806  

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    OriGene Protein Over-expression Lysate: NFAT5
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    Novus Biologicals NFAT5 Protein
    Novus Biologicals NFAT5 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for NFAT5

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm ----


    NFAT5 for ontologies           About GeneDecksing



    NFAT5 Antibody Products: 
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    Uscn ELISAs and CLIAs for NFAT5

    Protein Domains /
    Families
    for NFAT5 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NFAT5 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR014756 Ig_E-set
     IPR008967 p53-like_TF_DNA-bd
     IPR015646 NFAT5
     IPR002909 IPT_TIG_rcpt
     IPR013783 Ig-like_fold

    Graphical View of Domain Structure for InterPro Entry O94916

    ProtoNet protein and cluster: O94916

    3 Blocks protein families:
    IPB002909 Cell surface receptor IPT/TIG
    IPB008366 Nuclear factor of activated T cells (NFAT) signature
    IPB011539 Rel homology


    UniProtKB/Swiss-Prot: NFAT5_HUMAN, O94916
    Similarity: Contains 1 RHD (Rel-like) domain


    Function
    for NFAT5 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: NFAT5_HUMAN, O94916
    Function: Plays a role in the inducible expression of genes. Regulates hypertonicity-induced cellular accumulation of
    osmolytes

    Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.3.142

    miRNA
    Products:            		miRTarBase miRNAs that target NFAT5:
    hsa-mir-31 (MIRT004971), hsa-mir-24 (MIRT005398)

    OriGene 3'-UTR Clone (see all 5): NFAT5
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NFAT5
    8/261 QIAGEN miScript miRNA Assays for microRNAs that regulate NFAT5 (see all 261):
    hsa-miR-194* hsa-miR-411* hsa-miR-140-5p hsa-miR-579 hsa-miR-361-5p hsa-miR-605 hsa-miR-3916 hsa-miR-1243
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NFAT5 (see all 7)
    OriGene shRNA RFP: NFAT5
    OriGene siRNA: NFAT5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NFAT5

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for NFAT5

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NFAT5 (see all 8)
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 5): NFAT5 (NM_173214)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NFAT5 

    Cell Line
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    Search LifeMap BioReagents cell lines for NFAT5

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NFAT5

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI--


    NFAT5 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for NFAT5:
     Increased cell number in G1, a 

    Animal Models:
         Mouse knock-outs for NFAT5: Nfat5tm1Snh Nfat5tm1Skc Nfat5tm1Rao
         9 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Nfat5):
     cardiovascular system  cellular  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  muscle  renal/urinary system 

    NFAT5 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for NFAT5 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/22 super-pathways (see all 22) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Activation of cAMP-Dependent PKA
    		Activation of cAMP-Dependent PKA1.00
    		Activation of PKA through GPCR0.71
    		cAMP Pathway0.77
    		PKA Signaling0.56
    2PKC-Theta Pathway
    		PKC-Theta Pathway1.00
    		ITK and TCR Signaling0.54
    		TCR Signaling0.68
    		Fc-EpsilonRI Pathway0.42
    3BAFF in B-Cell Signaling
    		BAFF in B-Cell Signaling1.00
    		RANK Signaling in Osteoclasts0.45
    		APRIL Pathway0.92
    4B cell receptor signaling pathway
    		B cell receptor signaling pathway1.00
    		PI3K Signaling in B-Lymphocyte0.35
    		T cell receptor signaling pathway0.40
    5Immune response_NFAT in immune response
    		Immune response_NFAT in immune response1.00
    		Immune response NFAT in immune response0.91

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for NFAT5
        Immune response CD28 signaling
    Immune response NFAT in immune response

    5/28 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for NFAT5 (see all 28)
        PKA Signaling
    Intracellular Calcium Signaling
    NFAT Signaling and Lymphocyte Interactions
    PI3K Signaling in B-Lymphocyte
    IL-2 Pathway

    2 GeneGo (Thomson Reuters) Pathways for NFAT5
        Immune response CD28 signaling
    Immune response NFAT in immune response


    5/6         Kegg Pathways  (Kegg details for NFAT5) (see all 6):
        Wnt signaling pathway
    Axon guidance
    VEGF signaling pathway
    Natural killer cell mediated cytotoxicity
    T cell receptor signaling pathway


    NFAT5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NFAT5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/38 Interacting proteins for NFAT5 (O949161, 3 ENSP000003965384) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DDX17Q928411, 3EBI-308320,EBI-746012 I2D: score=1 
    PLCG1P191743, ENSP000002440074I2D: score=1 STRING: ENSP00000244007
    TBC1D4O603433, ENSP000003668634I2D: score=2 STRING: ENSP00000366863
    DDX21Q9NR303I2D: score=1 
    DHX9Q082113I2D: score=1 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001816cytokine production ----
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006366transcription from RNA polymerase II promoter TAS10051678
    GO:0007165signal transduction NAS10377394
    GO:0007588excretion TAS10051678


    NFAT5 for ontologies           About GeneDecksing



    Drugs & Compounds
    for NFAT5 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NFAT5 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NFAT5
    10 Novoseek chemical compound relationships for NFAT5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    aldose 77.9 7 18502201 (2), 18568363 (1), 16644704 (1), 12538727 (1) (see all 5)
    inositol 59.9 8 19886771 (3), 11350742 (2), 12538727 (1)
    mannitol 45.6 5 19886771 (3)
    taurine 36.2 1 15142033 (1)
    urea 28.5 4 11292634 (3), 17202415 (1)
    sodium 23.9 3 17202415 (1), 11350742 (1), 12538727 (1)
    cyclosporin a 7.97 6 17202415 (3), 11046013 (1), 19956430 (1)
    calcium 5.29 6 19138132 (3), 17166937 (1), 19956430 (1), 10377394 (1)
    nacl 0 1 15769933 (1)
    glucose 0 3 16644704 (2), 19886771 (1)

    Search CenterWatch for drugs/clinical trials and news about NFAT5 

    Transcripts
    for NFAT5 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for NFAT5 gene (6 alternative transcripts): 
    NM_001113178.2  NM_006599.3  NM_138713.3  NM_138714.3  NM_173214.2  NM_173215.2  

    Unigene Cluster for NFAT5:

    Nuclear factor of activated T-cells 5, tonicity-responsive
    Hs.371987  [show with all ESTs]
    Unigene Representative Sequence: AF346509
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000426654 ENST00000354436 ENST00000567990(uc002exh.2) ENST00000567239
    ENST00000393742(uc002exo.2) ENST00000566899 ENST00000565301 ENST00000563474
    ENST00000562429 ENST00000568832 ENST00000432919(uc002exl.2 uc002exn.2 uc002exm.2)
    ENST00000349945(uc002exi.3 uc002exj.2 uc002exk.2)

    miRNA
    Products:             		 OriGene 3'-UTR Clone (see all 5): NFAT5
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NFAT5
    8/261 QIAGEN miScript miRNA Assays for microRNAs that regulate NFAT5 (see all 261):
    hsa-miR-194* hsa-miR-411* hsa-miR-140-5p hsa-miR-579 hsa-miR-361-5p hsa-miR-605 hsa-miR-3916 hsa-miR-1243
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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AB020634.1 AF089824.1 AF134870.1 AF163836.1 AF346509.1 AJ005683.1 AJ005684.1 AJ243298.1 
    AJ243299.1 AK001067.1 BC089395.1 BC131509.1 BC146765.1 U80231.1 X85324.1 Z97016.1 

    17 DOTS entries:

    DT.100026725  DT.453792  DT.100823814  DT.100823808  DT.422563  DT.101957372  DT.120715030  DT.406406 
    DT.91899748  DT.100823813  DT.95238074  DT.95273574  DT.97773820  DT.120715286  DT.40106915  DT.40190656 
    DT.99994223 

    24/296 AceView cDNA sequences (see all 296):

    CK429673 CD237822 AL698409 AW613687 BG527574 BM976444 BE042969 N52582 
    AW467411 CD723620 BM972103 BM905681 AA228100 F11961 AA736493 AA291214 
    BX956041 T34633 AF134870 NM_138714 BG149944 CB162492 AW959367 BF792861 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for NFAT5 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13
    SP1:                                      -                                                                                 
    SP2:                                                                                                                        
    SP3:                                                                                                        -     -         
    SP4:                                                                                                              -         
    SP5:                                                                                                                        


    ECgene alternative splicing isoforms for NFAT5

    Expression
    for NFAT5 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NFAT5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AACGGTGCTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    NFAT5 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbLimb BudLimb Bud Mesenchyme CellsMesoderm
    KidneyCap MesenchymeCap Mesenchyme CellsKidney
    BoneMandibular CondyleBone
    KidneyS-shaped BodyKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor EN27 (Embryonic Progenitor Cell)

    See NFAT5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NFAT5

    SOURCE GeneReport for Unigene cluster: Hs.371987

    UniProtKB/Swiss-Prot: NFAT5_HUMAN, O94916
    Tissue specificity: Highest levels in skeletal muscle, brain, heart and peripheral blood leukocytes. Also expressed in
    placenta, lung, liver, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine and colon

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    Orthologs
    for NFAT5 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for NFAT5 gene from 4/14 species (see all 14)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves NFAT51 nuclear factor of activated T-cells 5, tonicity-responsive less 80.05(n)
    81.84(a)    		   415866  NM_001199000.1  NP_001185929.1 
    lizard
    (Anolis carolinensis)    		 Reptilia NFAT56
    		 --
    		 65(a)
    		 1 ↔ 1
    		 GL343643.1(124018-145462)
    zebrafish
    (Danio rerio)    		 Actinopterygii wufi46f112 wufi46f11 76.72(n)   334390  BC058868.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta NFAT3 transcription RNA polymerase II
    transcription factor less    		 51(a)     --


    ENSEMBL Gene Tree for NFAT5 (if available)
    TreeFam Gene Tree for NFAT5 (if available) 

    Paralogs
    for NFAT5 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NFAT5 gene
    NFATC32  NFATC42  NFATC12  NFATC22  
    2 SIMAP similar genes for NFAT5 using alignment to 6 protein entries:     NFAT5_HUMAN (see all proteins):
    NFAT5/TonEBP    NFATC1

    NFAT5 for paralogs           About GeneDecksing



    Genomic Variants
    for NFAT5 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2090 NCBI SNPs in NFAT5 are shown (see all 2090)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 16 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs284950001,2
    		C--55476134(+) CTTACC/ATAATC 6 -- us2k12Minor allele frequency- A:0.00NA 4
    rs751998351,2
    		F,--55476340(+) TGCTCA/CGAGTG 6 -- us2k11Minor allele frequency- C:0.03WA 118
    rs620528211,2
    		--55476909(+) CTCAAT/ATTCAT 6 -- us2k12Minor allele frequency- A:0.08NA 122
    rs2007401351,2
    		C--55477339(+) CAAAAA/GGAAAA 6 -- us2k10--------
    rs1141817851,2
    		C,F,--55477406(+) TTACCT/CGTTTT 6 -- us2k11Minor allele frequency- C:0.04WA 118
    rs14237241,2
    		C--55477522(+) TTTTTA/AA    
           /T/TT    AAAAA     		6 -- us2k10--------
    rs14237251,2
    		--55477523(+) TTTTAA/TAAAAA 6 -- us2k11Minor allele frequency- T:0.00MN 184
    rs22879691,2
    		C,F,H--55477725(+) CTGCGA/CGACCC 6 -- us2k1 ese32Minor allele frequency- C:0.16NS 406
    rs728013051,2
    		C,F,--55479895(+) TTTTCG/AGGCAA 6 -- int12Minor allele frequency- A:0.05WA NA 238
    rs1174228581,2
    		C,F,--55480095(+) NNNNTA/GGCTTC 6 -- int11Minor allele frequency- G:0.02NA 120

    HapMap Linkage Disequilibrium report for NFAT5 (69598997 - 69738569 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for NFAT5
         1 CNV: 39186

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    Disorders / Diseases
    for NFAT5 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    NFAT5 for disorders           About GeneDecksing

    OMIM gene information: 604708    OMIM disorders: --

    12 diseases for NFAT5:    About MalaCards
    cherubism    ataxia telangiectasia    nephropathy    hepatitis b
    ataxia    osteoporosis    colon cancer    breast carcinoma
    hepatitis    arthritis    carcinoma    prostatitis

    2 diseases from the University of Copenhagen DISEASES database for NFAT5:
    Cherubism     Osteoporosis

    3 Novoseek disease relationships for NFAT5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    antidiuresis 73.7 1 18568363 (1)
    hyperosmolality 55.8 2 17202415 (1), 16173919 (1)
    shock 26.1 4 16772300 (1), 18502201 (1), 12538727 (1)

    Human Genome Epidemiology (HuGE) Navigator: NFAT5 (5 documents)

    Export disorders for NFAT5 gene to outside databases

    Publications
    for NFAT5 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NFAT5 gene, integrated from 9 sources (see all 112):
    (articles sorted by number of sources associating them with NFAT5)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. NFAT5, a constitutively nuclear NFAT protein that does not cooperate with Fos and Jun. (PubMed id 10377394)1, 2, 3, 9 Lopez-Rodriguez C.... Rao A. (1999)
    2. Structure of a TonEBP-DNA complex reveals DNA encircled by a transcription factor. (PubMed id 11780147)1, 2, 9 Stroud J.C....Chen L. (2002)
    3. Tonicity-responsive enhancer binding protein, a rel-like protein that stimulates transcription in response to hypertonicity. (PubMed id 10051678)1, 2, 9 Miyakawa H.... Kwon H.M. (1999)
    4. High NaCl-induced activation of CDK5 increases phosph orylation of the osmoprotective transcription factor TonEBP/OREBP at threonine 135, which contributes to its rapid nuclear localization. (PubMed id 21209322)1, 2 Gallazzini M....Ferraris J.D. (2011)
    5. Isolation and characterization of novel CAG repeat containing genes expressed in human brain. (PubMed id 10565538)1, 2 Zuehlke C.... Schwinger E. (1999)
    6. NFAT5: the NF-AT family of transcription factors expands in a new direction. (PubMed id 11233530)1, 2 Lopez-Rodriguez C.... Rao A. (1999)
    7. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10048485)1, 2 Nagase T....Ohara O. (1998)
    8. Exclusion of NFAT5 from mitotic chromatin resets its nucleo-cytoplasmic distribution in interphase. (PubMed id 19750013)1, 9 Estrada-Gelonch A....LA^pez-RodrA-guez C. (2009)
    9. The NFAT-related protein NFATL1 (TonEBP/NFAT5) is induced upon T cell activation in a calcineurin-dependent manner. (PubMed id 11046013)1, 9 Trama J....Ho S.N. (2000)
    10. Bridging the NFAT and NF-kappaB families: NFAT5 dimerization regulates cytokine gene transcription in response to osmotic stress. (PubMed id 11485737)1, 9 Lopez-Rodriguez C....Rao A. (2001)

    External Searches for NFAT5 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing NFAT5 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10725 HGNC: 7774 AceView: NFAT5 Ensembl:ENSG00000102908 euGenes: HUgn10725
    ECgene: NFAT5 Kegg: 10725 H-InvDB: NFAT5

    Other Databases showing NFAT5 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA0827

    Specialized Databases showing NFAT5 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NFAT5 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for NFAT5 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for NFAT5 gene:
    Search GeneIP for patents involving NFAT5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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