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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NFAT5 Gene

protein-coding   GIFtS: 64
GCID: GC16P069599

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

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Nuclear Factor Of Activated T-Cells 5, Tonicity-Responsive1 2     Glutamine Rich Protein H652
Tonicity-Responsive Enhancer-Binding Protein2 3     NFAT-Like Protein 12
NF-AT52 3     Nuclear Factor Of Activated T-Cells 52
TONEBP2 3     Osmotic Response Element-Binding Protein2
T-Cell Transcription Factor NFAT52 3     KIAA08273
TonE-Binding Protein2 3     TonEBP3
NFATL12     EC 3.6.18
NFATZ2     EC 3.6.3.148
OREBP2     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and ataxia telangiectasia, and among its related super-pathways are Activation of cAMP-Dependent PKA and PKC-Theta Pathway. GO annotations related to this gene include DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is NFATC3.

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 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010498.15  NC_018927.2  
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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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; Sequence=CAC42765.1; Type=Frameshift; Positions=20;
1 PDB 3D structure from and Proteopedia for NFAT5:
1IMH (3D)    
Secondary accessions: A2RRB4 A6H8V5 E9PHR7 O95693 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:

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

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

    NFAT5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NFAT5 Protein Expression
    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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    Cloud-Clone Corp. 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 IEA--

    NFAT5 for ontologies           About GeneDecksing



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

    5/7 InterPro protein domains (see all 7):
     IPR014756 Ig_E-set
     IPR008967 p53-like_TF_DNA-bd
     IPR002909 IPT_TIG_rcpt
     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


    NFAT5 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         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


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

         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

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NFAT5 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NFAT5

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    miRNA
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    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
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NFAT5


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NFAT5 About   (see all 17)                                                                                              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
    2PKC-Theta Pathway
    TCR Signaling0.68
    ITK and TCR Signaling0.54
    PKC-Theta Pathway0.68
    Fc-EpsilonRI Pathway0.49
    3BAFF in B-Cell Signaling
    BAFF in B-Cell Signaling0.92
    RANK Signaling in Osteoclasts0.45
    APRIL Pathway0.92
    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

    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



    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 IEA--
    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



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
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    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)

    Search CenterWatch for drugs/clinical trials and news about NFAT5

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, 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)
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    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 

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

    BF515584 AF089824 CB162492 N52582 AI457829 AA641749 AA478950 AI143443 
    R78884 AA838717 NM_006599 BX091888 AI273190 AF134870 BX641563 CD723559 
    BX501422 AW241267 AW467411 AI573273 AA736493 AK000312 AI431924 F11961 

    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

    (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)      NFAT5 embryonic expression: see
    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 
     5/7 selected tissues (see all 7) fully expand
     
     Bone (Muscoskeletal System)
             Mandibular Condyle
     
     Mesoderm (Gastrulation Derivatives)
             Limb Bud Mesenchyme Cells Limb Bud
     
     Limb (Muscoskeletal System)
             Limb Bud Mesenchyme Cells Limb Bud
     
     Breast (Uncategorized)
             breast epithelium   
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including NFAT5: 
              Stem Cell Signaling 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for NFAT5 gene from 5/11 species (see all 11)    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 90.87(n)1
    92.82(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 80.05(n)
    81.84(a)
      415866  NM_001199000.1  NP_001185929.1 
    lizard
    (Anolis carolinensis)
    Reptilia NFAT56
    Uncharacterized protein
    68(a)
    1 ↔ 1
    GL343643.1(123922-145470)
    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)
    About This Section
    Paralogs for NFAT5 gene
    NFATC32  NFATC42  NFATC12  NFATC22  
    2 SIMAP similar genes for NFAT5 using alignment to 5 protein entries:     NFAT5_HUMAN (see all proteins):
    NFAT5/TonEBP    NFATC1

    NFAT5 for paralogs           About GeneDecksing



    (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) 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

    10/2469 SNPs in NFAT5 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604708    OMIM disorders: --

    13 diseases for NFAT5:    About MalaCards
    cherubism    ataxia telangiectasia    narcolepsy    cytochrome p450
    ataxia    ischemia    colon cancer    hepatitis b
    hepatitis c    hypoxia    tuberculosis    hepatitis
    prostatitis

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

    NFAT5 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for NFAT5 gene, integrated from 9 sources (see all 114):
    (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. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (2010)
    6. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    7. Isolation and characterization of novel CAG repeat containing genes expressed in human brain. (PubMed id 10565538)1, 2 Zuehlke C.... Schwinger E. (1999)
    8. NFAT5: the NF-AT family of transcription factors expands in a new direction. (PubMed id 11233530)1, 2 Lopez-Rodriguez C.... Rao A. (1999)
    9. 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)
    10. 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)

    (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)

    (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 H-InvDB: NFAT5

    (According to HUGE)
    About This Section
    HUGE: KIAA0827

    (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

    (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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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