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NFAT5 Gene

protein-coding   GIFtS: 63
GCID: GC16P069599

Nuclear Factor Of Activated T-Cells 5, Tonicity-Responsive

  See NFAT5-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Nuclear Factor Of Activated T-Cells 5, Tonicity-Responsive1 2     OREBP2
TONEBP2 3 5     Glutamine Rich Protein H652
Tonicity-Responsive Enhancer-Binding Protein2 3     NFAT-Like Protein 12
NF-AT52 3     Nuclear Factor Of Activated T-Cells 52
T-Cell Transcription Factor NFAT52 3     Osmotic Response Element-Binding Protein2
TonE-Binding Protein2 3     TonEBP3
NFATL12 5     EC 3.6.18
KIAA08273 5     EC 3.6.3.148
NFATZ2     

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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NFAT5 Gene:
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)

GeneCards Summary for NFAT5 Gene:
NFAT5 (nuclear factor of activated T-cells 5, tonicity-responsive) is a protein-coding gene. Diseases associated with NFAT5 include cherubism. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity. An important paralog of this gene is NFATC3.

UniProtKB/Swiss-Prot: NFAT5_HUMAN, O94916
Function: Transcription factor involved in the transcriptional regulation of osmoprotective and inflammatory
genes. Regulates hypertonicity-induced cellular accumulation of osmolytes

Gene Wiki entry 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_010498.16  NC_018927.2  
Regulatory elements:
   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 Chromatin IP Primers for NFAT5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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. Interacts with CIDEC; this interaction
is direct and retains NFAT5 in the cytoplasm (By similarity). Does not bind with Fos and Jun transcription
factors
Sequence caution: Sequence=BAA74850.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=CAB09693.1; Type=Frameshift; Positions=1164; Sequence=CAC42765.1; Type=Frameshift; Positions=20;
1 PDB 3D structure from and Proteopedia for NFAT5:
1IMH (3D)    
Secondary accessions: A2RRB4 A6H8V5 E9PHR7 O95693 Q7LA65 Q969Q8 Q96QH3 Q9UN18
Alternative splicing: 5 isoforms:  O94916-1   O94916-2   O94916-3   O94916-4   O94916-5   (No experimental confirmation available)

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

Explore proteomics data for NFAT5 at MOPED

Post-translational modifications: 

  • Phosphorylated at Thr-135 by CDK5 in response to osmotic stress; this phosphorylation mediates its rapid nuclear
    localization1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for NFAT5 (O94916)
     TTVIEVG  NQKGTGV 


    See NFAT5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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  

    NFAT5 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for NFAT5
    OriGene Custom MassSpec
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    Novus Biologicals NFAT5 Protein
    Novus Biologicals NFAT5 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NFAT5

     
    Search eBioscience for Proteins for NFAT5 

    NFAT5 Antibody Products:

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    NFAT5 Assay Products:

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    Search eBioscience for ELISAs for NFAT5 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    NFAT: Nuclear factor of activated T-cells

    Selected InterPro protein domains (see all 7):
     IPR014756 Ig_E-set
     IPR008967 p53-like_TF_DNA-bd
     IPR002909 IPT
     IPR013783 Ig-like_fold
     IPR015646 NFAT5

    Graphical View of Domain Structure for InterPro Entry O94916

    ProtoNet protein and cluster: O94916

    3 Blocks protein domains:
    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


    Find genes that share domains with NFAT5           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NFAT5_HUMAN, O94916
    Function: Transcription factor involved in the transcriptional regulation of osmoprotective and inflammatory
    genes. Regulates hypertonicity-induced cellular accumulation of osmolytes

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.3.142

         Gene Ontology (GO): 3 molecular function terms:    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--
         
    Find genes that share ontologies with NFAT5           About GenesLikeMe


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

         9 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Nfat5):
     cardiovascular system  cellular  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  muscle  renal/urinary system 

    Find genes that share phenotypes with NFAT5           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for NFAT5: Nfat5tm1Snh Nfat5tm1Skc Nfat5tm1Rao

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NFAT5
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NFAT5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NFAT5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NFAT5

    miRNA
    Products:
        
    miRTarBase miRNAs that target NFAT5:
    hsa-mir-335-5p (MIRT018093), hsa-mir-652-3p (MIRT039549), hsa-mir-877-5p (MIRT037220), hsa-mir-17-5p (MIRT050877), hsa-mir-31-5p (MIRT004971), hsa-mir-21-5p (MIRT030927), hsa-mir-24-3p (MIRT005398)

    Block miRNA regulation of human, mouse, rat NFAT5 using miScript Target Protectors
    Selected qRT-PCR 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 RNAi products in human, mouse, rat for NFAT5
    Predesigned siRNA for gene silencing in human, mouse, rat NFAT5

    Gene Editing
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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
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NFAT5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NFAT5
    Addgene plasmids for NFAT5 

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


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NFAT5_HUMAN, O94916: Nucleus. Cytoplasm (By similarity). Note=Nuclear distribution increases under hypertonic
    conditions (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton2
    cytosol2
    endoplasmic reticulum2
    extracellular2
    plasma membrane2
    mitochondrion1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with NFAT5           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for NFAT5 About   (see all 16)  
    See pathways by source

    SuperPathContained pathways About
    1Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56
    2TCR Signaling (Qiagen)
    PKC-Theta Pathway0.68
    ITK and TCR Signaling0.54
    TCR Signaling0.68
    Fc-EpsilonRI Pathway0.49
    3RANK Signaling in Osteoclasts
    APRIL Pathway0.92
    RANK Signaling in Osteoclasts0.45
    BAFF in B-Cell Signaling0.92
    4ErbB4 Pathway
    IL-2 Pathway0.48
    PI3K Signaling in B-Lymphocyte0.35
    TREM1 Pathway0.43
    5ICos-ICosL Pathway in T-Helper Cell
    ICos-ICosL Pathway in T-Helper Cell0.66
    CD28 Signaling in T-Helper Cell0.66

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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


        Pathway & Disease-focused RT2 Profiler PCR Arrays including NFAT5: 
              Stem Cell Signaling in human mouse rat
              VEGF Signaling in human mouse rat
              Transcription Factors in human mouse rat
              Stress & Toxicity PathwayFinder in human mouse rat
              Osmotic Stress in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NFAT5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NFAT5 (O949161, 3 ENSP000003965384) via UniProtKB, MINT, STRING, and/or I2D (see all 49)
    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): Selected biological process terms (see all 8):    About this table

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

    Find genes that share ontologies with NFAT5           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NFAT5

    10 Novoseek inferred 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)



    Find genes that share compounds with NFAT5           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
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    Block miRNA regulation of human, mouse, rat NFAT5 using miScript Target Protectors
    Selected qRT-PCR 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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    Clone
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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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NFAT5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NFAT5
    Addgene plasmids for NFAT5 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for NFAT5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NFAT5
      QuantiTect SYBR Green Assays in human, mouse, rat NFAT5
      QuantiFast Probe-based Assays in human, mouse, rat NFAT5

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 296):

    BX645566 BM905681 BX641563 AK000312 CD237822 AI143443 BM664536 AA227721 
    AA908177 BG149944 BF515584 AL700992 BX951843 AW474793 D57676 AI431924 
    BM696018 AA250810 D79785 NM_138713 BM976444 BM972103 BG527574 AA228100 

    GeneLoc Exon Structure

    Selected 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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    NFAT5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACGGTGCTG
    NFAT5 Expression
    About this image


    NFAT5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Limb (Muscoskeletal System)
             Limb Bud Mesenchyme Cells Limb Bud
     
     Bone (Muscoskeletal System)
             Mandibular Condyle
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Mesoderm (Gastrulation Derivatives)
             Limb Bud Mesenchyme Cells Limb Bud
     
     Testis (Reproductive System)
    NFAT5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NFAT5 Protein Expression

    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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              Osmotic Stress in human mouse rat

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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for NFAT5 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nfat51 , 5 nuclear factor of activated T cells 51, 5 90.81(n)1
    92.62(a)1
      8 (53.93 cM)5
    544461  NM_018823.21  NP_061293.21 
     1072934705 
    chicken
    (Gallus gallus)
    Aves NFAT51 nuclear factor of activated T-cells 5, tonicity-responsive less 80.03(n)
    81.78(a)
      415866  NM_001199000.1  NP_001185929.1 
    lizard
    (Anolis carolinensis)
    Reptilia NFAT56
    nuclear factor of activated T-cells 5, tonicity-re...
    68(a)
    1 ↔ 1
    GL343643.1(123922-145470)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia nfat51 nuclear factor of activated T-cells 5, tonicity-responsive less 68.92(n)
    66.24(a)
      100495532  XM_002937577.2  XP_002937623.2 
    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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NFAT5 gene
    NFATC32  NFATC42  NFATC12  NFATC22  
    1 SIMAP similar gene for NFAT5 using alignment to 5 protein entries:     NFAT5_HUMAN (see all proteins):
    NFATC1

    Find genes that share paralogs with NFAT5           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NFAT5 (see all 2469)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1419816731,2
    C--55483474(+) ACAAC-/AACA  
            
    CAACA
    6 -- int10--------
    rs112998321,2
    C--55487839(+) AAAAA-/ACTGTA 6 -- int10--------
    rs1127562311,2
    F--55514759(+) TTTTTC/TTGAGA 6 -- int11Minor allele frequency- T:0.50CSA 2
    rs558622721,2
    C--55565118(+) CACTT-/TTTT  
      
    /TTTTT
    CTTTT
    6 -- int10--------
    rs762413811,2
    C--55573322(+) TCTCTC/TTTTTT 6 -- int11Minor allele frequency- T:0.50NA 2
    rs2018024271,2
    C--55578464(+) AATAAC/TGCCGC 6 -- int10--------
    rs1440737361,2
    C--55582553(+) AGAGT-/AAAAAA 6 -- int10--------
    rs725236641,2
    C--55582585(+) ATCAC-/GT/TG 
            
    TTTTT
    6 -- int11CSA 2
    rs105637941,2
    C--55585387(+) TTCTT-/TCTCTCT 6 -- int10--------
    rs1115526081,2
    C--55590575(+) CTAAA-/TTTTTT 6 -- int11Minor allele frequency- T:0.00CSA 2

    HapMap Linkage Disequilibrium report for NFAT5 (69598997 - 69738569 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for NFAT5:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv1852CNV Loss18451855
    nsv906823CNV Gain21882294
    nsv906822CNV Gain21882294

    Human Gene Mutation Database (HGMD): NFAT5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NFAT5
    DNA2.0 Custom Variant and Variant Library Synthesis for NFAT5

    (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.)
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    OMIM gene information: 604708    OMIM disorders: --

    1 disease for NFAT5:    
    About MalaCards
    cherubism

    1 disease from the University of Copenhagen DISEASES database for NFAT5:
    Cherubism

    Find genes that share disorders with NFAT5           About GenesLikeMe

    3 Novoseek inferred 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)

    Genetic Association Database (GAD): NFAT5
    Human Genome Epidemiology (HuGE) Navigator: NFAT5 (5 documents)

    Export disorders for NFAT5 gene to outside databases

    (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)
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    PubMed articles for NFAT5 gene, integrated from 10 sources (see all 115):
    (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. (Proc. Natl. Acad. Sci. U.S.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. (Nat. Struct. Biol. 2002)
    3. Genomic organization of the human NFAT5 gene: exon-intron structure of the 14-kb transcript and CpG-island analysis of the promoter region. (PubMed id 11528118)1, 2, 9 Dalski A.... Zuhlke C. (Cytogenet. Cell Genet. 2001)
    4. 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. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    5. High NaCl-induced activation of CDK5 increases phosphorylation 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. (Mol. Biol. Cell 2011)
    6. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (Hum. Genet. 2010)
    7. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    8. Isolation and characterization of novel CAG repeat containing genes expressed in human brain. (PubMed id 10565538)1, 2 Zuehlke C.... Schwinger E. (DNA Seq. 1999)
    9. NFAT5: the NF-AT family of transcription factors expands in a new direction. (PubMed id 11233530)1, 2 Lopez-Rodriguez C.... Rao A. (Cold Spring Harb. Symp. Quant. Biol. 1999)
    10. 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. (DNA Res. 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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    HUGE: KIAA0827

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

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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