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NFATC2 Gene

protein-coding   GIFtS: 62
GCID: GC20M050003

Nuclear Factor Of Activated T-Cells, Cytoplasmic, Calcineurin-Dependent...

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(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, Cytoplasmic, Calcineurin-Dependent
21 2
     Nuclear Factor Of Activated T-Cells, Cytoplasmic 22
NFATP2 3 5     Nuclear Factor Of Activated T-Cells, Preexisting Component2
NF-ATc22 3     Preexisting Nuclear Factor Of Activated T-Cells 22
NFAT12 3     T Cell Transcription Factor NFAT12
NFAT Pre-Existing Subunit2 3     NF-ATp3
T-Cell Transcription Factor NFAT12 3     NFATc23
NFAT Transcription Complex, Preexisting Component2     

External Ids:    HGNC: 77761   Entrez Gene: 47732   Ensembl: ENSG000001010967   OMIM: 6004905   UniProtKB: Q134693   

Export aliases for NFATC2 gene to outside databases

Previous GC identifers: GC20M049743 GC20M050646 GC20M050693 GC20M049442 GC20M046756


(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 NFATC2 Gene:
This gene is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is a
DNA-binding protein with a REL-homology region (RHR) and an NFAT-homology region (NHR). This protein is present
in the cytosol and only translocates to the nucleus upon T cell receptor (TCR) stimulation, where it becomes a
member of the nuclear factors of activated T cells transcription complex. This complex plays a central role in
inducing gene transcription during the immune response. Alternate transcriptional splice variants encoding
different isoforms have been characterized. (provided by RefSeq, Apr 2012)

GeneCards Summary for NFATC2 Gene:
NFATC2 (nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2) is a protein-coding gene. Diseases associated with NFATC2 include enchondroma, and hypereosinophilic syndrome. GO annotations related to this gene include transcription regulatory region DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is NFATC3.

UniProtKB/Swiss-Prot: NFAC2_HUMAN, Q13469
Function: Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of
the IL-2, IL-3, IL-4, TNF-alpha or GM-CSF. Promotes invasive migration through the activation of GPC6 expression
and WNT5A signaling pathway

Gene Wiki entry for NFATC2 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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Regulatory elements:
   Regulatory transcription factor binding sites in the NFATC2 gene promoter:
         Elk-1   c-Rel   NF-kappaB1   NF-kappaB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNFATC2 promoter sequence
   Search Chromatin IP Primers for NFATC2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NFATC2


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

Entrez Gene cytogenetic band: 20q13.2   Ensembl cytogenetic band:  20q13.2   HGNC cytogenetic band: 20q13.2

NFATC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NFATC2 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M050003:  view genomic region     (about GC identifiers)

Start:
50,003,494 bp from pter      End:
50,179,370 bp from pter
Size:
175,877 bases      Orientation:
minus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: NFAC2_HUMAN, Q13469 (See protein sequence)
Recommended Name: Nuclear factor of activated T-cells, cytoplasmic 2  
Size: 925 amino acids; 100146 Da
Subunit: Member of the multicomponent NFATC transcription complex that consists of at least two components, a
pre-existing cytoplasmic component NFATC2 and an inducible nuclear component NFATC1. Other members such as
NFATC4, NFATC3 or members of the activating protein-1 family, MAF, GATA4 and Cbp/p300 can also bind the complex.
The phosphorylated form specifically interacts with XPO1; which mediates nuclear export. NFATC proteins bind to
DNA as monomers. Interacts with NFATC2IP (By similarity)
Selected PDB 3D structures from and Proteopedia for NFATC2 (see all 8):
1A02 (3D)        1OWR (3D)        1P7H (3D)        1PZU (3D)        1S9K (3D)        2AS5 (3D)    
Secondary accessions: B5B2N8 B5B2N9 Q13468 Q5TFW7 Q5TFW8 Q9NPX6 Q9NQH3 Q9UJR2
Alternative splicing: 3 isoforms:  Q13469-1   Q13469-2   Q13469-3   

Explore the universe of human proteins at neXtProt for NFATC2: NX_Q13469

Explore proteomics data for NFATC2 at MOPED

Post-translational modifications: 

  • In resting cells, phosphorylated by NFATC-kinase on at least 18 sites in the 99-363 region. Upon cell stimulation,
    all these sites except Ser-243 are dephosphorylated by calcineurin. Dephosphorylation induces a conformational
    change that simultaneously exposes an NLS and masks an NES, which results in nuclear localization.
    Simultaneously, Ser-53 or Ser-56 is phosphorylated; which is required for full transcriptional activity1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NFATC2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (8 alternative transcripts): 
    NP_001129493.1  NP_001245221.1  NP_001245223.1  NP_001245224.1  NP_001245225.1  NP_001245226.1  NP_036472.2  NP_775114.1  

    ENSEMBL proteins: 
     ENSP00000360619   ENSP00000379330   ENSP00000477370   ENSP00000477142   ENSP00000396471  
     ENSP00000477342  
    Reactome Protein details: Q13469

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    (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 6):
     IPR014756 Ig_E-set
     IPR008967 p53-like_TF_DNA-bd
     IPR002909 IPT
     IPR013783 Ig-like_fold
     IPR011539 RHD

    Graphical View of Domain Structure for InterPro Entry Q13469

    ProtoNet protein and cluster: Q13469

    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: NFAC2_HUMAN, Q13469
    Domain: the 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription
    factors
    Domain: Rel Similarity Domain (RSD) allows DNA-binding and cooperative interactions with AP1 factors (By
    similarity)
    Similarity: Contains 1 RHD (Rel-like) domain


    NFATC2 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NFAC2_HUMAN, Q13469
    Function: Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of
    the IL-2, IL-3, IL-4, TNF-alpha or GM-CSF. Promotes invasive migration through the activation of GPC6 expression
    and WNT5A signaling pathway
    Induction: Inducibly expressed in T-lymphocytes upon activation of the T-cell receptor (TCR) complex. Induced
    after co-addition of phorbol 12-myristate 13-acetate (PMA) and ionomycin

         Genatlas biochemistry entry for NFATC2:
    nuclear factor activated T cells c2,pre-existing,component,related to the NFKB/REL proteins and forming
    cooperative complexes with FOS and JUN on DNA,calcineurin dependent,involved in expression of genes collectively
    coordinating immune response

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS8668213
    GO:0003700sequence-specific DNA binding transcription factor activity TAS8668213
    GO:0005515protein binding IPI16873067
    GO:0043565sequence-specific DNA binding IEA--
    GO:0044212transcription regulatory region DNA binding IEA--
         
    NFATC2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for NFATC2:
     Increased G1 DNA content  Synthetic lethal with Ras 

         12 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Nfatc2):
     behavior/neurological  cellular  craniofacial  embryogenesis  growth/size/body 
     hematopoietic system  immune system  muscle  nervous system  respiratory system 
     skeleton  vision/eye 

    NFATC2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for NFATC2: Nfatc2tm1Srf Nfatc2tm1Glm Nfatc2tm1Rao

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NFATC2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NFATC2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NFATC2

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    (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
    NFAC2_HUMAN, Q13469: Cytoplasm. Nucleus. Note=Cytoplasmic for the phosphorylated form and nuclear after
    activation that is controlled by calcineurin-mediated dephosphorylation. Rapid nuclear exit of NFATC is thought
    to be one mechanism by which cells distinguish between sustained and transient calcium signals. The subcellular
    localization of NFATC plays a key role in the regulation of gene transcription
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton4
    cytosol4
    plasma membrane4

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus TAS8668213
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex IEA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm TAS8668213

    NFATC2 for ontologies           About GeneDecksing


    (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 NFATC2 About   (see all 41)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Immune response Fc epsilon RI pathway
    Immune response BCR pathway0.43
    Fc-epsilon receptor I signaling in mast cells0.34
    VEGF signaling pathway0.39
    2RANK Signaling in Osteoclasts
    BAFF in B-Cell Signaling0.92
    RANK Signaling in Osteoclasts0.45
    APRIL Pathway0.92
    Apoptosis and survival APRIL and BAFF signaling0.39
    3B cell receptor signaling pathway (KEGG)
    B cell receptor signaling pathway0.42
    TCR Signaling Pathway0.36
    T cell receptor signaling pathway0.38
    4fMLP Pathway
    fMLP Pathway0.43
    Signal transduction Activation of PKC via G Protein coupled receptor0.42
    5Wnt signaling pathway (KEGG)
    Wnt signaling pathway0.40
    Wnt Signaling Pathways0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 R&D Systems Pathways for NFATC2
        Wnt Signaling Pathways
    Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for NFATC2 (see all 31)
        Calcium Mediated T-Cell Apoptosis
    PKA Signaling
    Intracellular Calcium Signaling
    NFAT Signaling and Lymphocyte Interactions
    JNK Pathway

    1 Cell Signaling Technology (CST) Pathway for NFATC2
        Lymphocyte Signaling

    Selected GeneGo (Thomson Reuters) Pathways for NFATC2 (see all 13)
        Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis
    Immune response CD28 signaling
    Immune response CD16 signaling in NK cells
    Immune response BCR pathway
    Immune response IL-2 activation and signaling pathway

    Selected BioSystems Pathways for NFATC2 (see all 10)
        Heart Development
    B Cell Receptor Signaling Pathway
    TCR Signaling Pathway
    Calcium signaling in the CD4+ TCR pathway
    Calcineurin-regulated NFAT-dependent transcription in lymphocytes

    1 Reactome Pathway for NFATC2
        FCERI mediated Ca+2 mobilization

    1 PharmGKB Pathway for NFATC2
        Tacrolimus/Cyclosporine Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for NFATC2) (see all 10):
        Wnt signaling pathway
    Axon guidance
    VEGF signaling pathway
    Osteoclast differentiation
    Natural killer cell mediated cytotoxicity


    NFATC2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NFATC2 (see all 7): 
              Th17 Response in human mouse rat
              Th1/Th2 Response in human mouse rat
              Stem Cell Signaling in human mouse rat
              VEGF Signaling in human mouse rat
              Transcription Factors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NFATC2

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

    Selected Interacting proteins for NFATC2 (Q134691, 2, 3 ENSP000003793304) via UniProtKB, MINT, STRING, and/or I2D (see all 102)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MED31Q9Y3C72, 3MINT-64138 I2D: score=5 
    VIMP086702, 3MINT-64137 I2D: score=5 
    ENSG00000223355Q994663I2D: score=2 
    ENSG00000234876Q994663I2D: score=2 
    ENSG00000238196Q994663I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001816cytokine production IEA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated TAS8668213
    GO:0006974cellular response to DNA damage stimulus IMP17875758
    GO:0010628positive regulation of gene expression ----

    NFATC2 for ontologies           About GeneDecksing



    (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
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      Browse compounds at ApexBio 

    Browse Tocris compounds for NFATC2 (NFAC2)

    1 HMDB Compound for NFATC2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    7 Novoseek inferred chemical compound relationships for NFATC2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ionomycin 68 20 8668213 (3), 11982754 (2), 8631904 (2), 9111316 (2) (see all 7)
    cyclosporin a 67.1 39 11982754 (3), 8668213 (3), 7657645 (3), 7650486 (2) (see all 17)
    tacrolimus 53 6 11982754 (3), 8631904 (1), 12594826 (1)
    calcium 35.6 13 10940935 (2), 16172401 (2), 8668212 (1), 11982754 (1) (see all 8)
    cyclic amp 8.82 1 8816436 (1)
    oligonucleotide 0 1 11320240 (1)
    vitamin d 0 1 10330159 (1)



    NFATC2 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

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    REFSEQ mRNAs for NFATC2 gene (8 alternative transcripts): 
    NM_001136021.2  NM_001258292.1  NM_001258294.1  NM_001258295.1  NM_001258296.1  NM_001258297.1  NM_012340.4  NM_173091.3  

    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371564(uc002xwc.3 uc010zyv.2) ENST00000396009(uc002xwd.3 uc010zyw.2)
    ENST00000609943 ENST00000610033 ENST00000414705(uc010zyx.2 uc010zyy.2 uc010zyz.2 uc002xwe.3)
    ENST00000609507 ENST00000496054
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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      QuantiFast Probe-based Assays in human, mouse, rat NFATC2

    Selected AceView cDNA sequences (see all 103):

    BF196861 CA449812 AI365196 AI347866 BM977026 NM_173091 NM_012340 AI458188 
    AA886395 AA491103 AI240408 BQ889225 AA789102 AL134894 AU185751 AW008188 
    CD300621 AI191843 BX279897 AW518114 BQ006208 AI192984 BM822689 BM766967 

    GeneLoc Exon Structure


    (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)
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    NFATC2 expression in normal human tissues (normalized intensities)      NFATC2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATATTTCC
    NFATC2 Expression
    About this image


    NFATC2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Ovary (Reproductive System)
             Cumulus Cells Antral Follicle
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Blood (Hematopoietic System)
             Common Dendritic Cell Precursors Hematopoietic Bone Marrow
     
     Eye (Sensory Organs)
             Retina
    NFATC2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NFATC2 Protein Expression

    UniProtKB/Swiss-Prot: NFAC2_HUMAN, Q13469
    Tissue specificity: Expressed in thymus, spleen, heart, testis, brain, placenta, muscle and pancreas. Isoform 1 is
    highly expressed in the small intestine, heart, testis, prostate, thymus, placenta and thyroid. Isoform 3 is
    highly expressed in stomach, uterus, placenta, trachea and thyroid

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NFATC2 (see all 7): 
              Th17 Response in human mouse rat
              Th1/Th2 Response in human mouse rat
              Stem Cell Signaling in human mouse rat
              VEGF Signaling in human mouse rat
              Transcription Factors 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 NFATC2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nfatc21 , 5 nuclear factor of activated T cells, cytoplasmic, calcineurin more1, 5 87.14(n)1
    90.14(a)1
      2 (88.91 cM)5
    180191  NM_010899.21  NP_035029.21 
     1684764105 
    chicken
    (Gallus gallus)
    Aves NFATC21 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent more 73.87(n)
    78.28(a)
      419346  XM_417509.3  XP_417509.3 
    lizard
    (Anolis carolinensis)
    Reptilia NFATC26
    nuclear factor of activated T-cells, cytoplasmic, ...
    73(a)
    1 ↔ 1
    GL343226.1(1568053-1725115)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia nfatc21 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent more 69.66(n)
    71.15(a)
      100490186  XM_002933169.2  XP_002933215.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003332541 nuclear factor of activated T-cells, cytoplasmic 2-like 59.19(n)
    56.55(a)
      100333254  XM_003201225.2  XP_003201273.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta NFAT6
    NFAT homolog
    11(a)
    1 → many
    X(13518778-13558601)


    ENSEMBL Gene Tree for NFATC2 (if available)
    TreeFam Gene Tree for NFATC2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NFATC2 gene
    NFATC32  NFATC42  NFAT52  NFATC12  
    1 SIMAP similar gene for NFATC2 using alignment to 5 protein entries:     NFAC2_HUMAN (see all proteins):
    NFATC1

    NFATC2 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), 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 NFATC2 (see all 4247)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2017064701,2
    Cuntested150133476(+) GGGAGG/AGATGC 16 /S syn11Minor allele frequency- A:0.00EU 1303
    rs1463454391,2
    --46908797(+) TTCCAA/GTGTGT 4 -- us2k10--------
    rs1870638181,2
    --46908860(+) TGGGGA/GCTGGC 4 -- us2k10--------
    rs9266681,2
    C,F,O,A,H--46908904(-) TGACAA/GCCAGG 4 -- us2k122Minor allele frequency- G:0.24MN NS EA NA WA 2710
    rs1917108931,2
    --46908915(+) GAGCAC/TAAAGA 4 -- us2k10--------
    rs1856309551,2
    --50003002(+) GTTTTA/GAGGAG 8 -- ds50010--------
    rs1892032281,2
    --50003180(+) GGAAAA/GCTGGT 8 -- ds50010--------
    rs612267381,2
    C--50003232(+) AAAAGT/CAGTCT 8 -- ds50012Minor allele frequency- C:0.06WA 120
    rs48111681,2
    C,F,A,H--50003275(+) GAGAAT/CCAGAC 8 -- ds500123Minor allele frequency- C:0.34NS EA NA WA CSA 2349
    rs48111691,2
    C,F,A,H--50003316(+) CTCCGA/GCAAGT 8 -- ds500115Minor allele frequency- G:0.32NS EA NA WA CSA 791

    HapMap Linkage Disequilibrium report for NFATC2 (50003494 - 50179370 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for NFATC2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2722510CNV Deletion23290073
    esv2722509CNV Deletion23290073
    esv2722513CNV Deletion23290073
    esv2722512CNV Deletion23290073
    esv2722511CNV Deletion23290073
    esv2534215CNV Insertion19546169
    nsv912921CNV Loss21882294
    esv2751917CNV Gain17911159

    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing NFATC2:
    Pancreatic Cancer
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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.)
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    OMIM gene information: 600490    OMIM disorders: --

    Selected diseases for NFATC2 (see all 46):    About MalaCards
    enchondroma    hypereosinophilic syndrome    bullous pemphigoid    essential thrombocythemia
    noma    aplastic anemia    graft versus host disease    hemangioma
    wiskott-aldrich syndrome    chondrosarcoma    narcolepsy    b-cell chronic lymphocytic leukemia
    chronic lymphocytic leukemia    burkitt's lymphoma    lupus erythematosus    glioblastoma multiforme
    intrahepatic cholangiocarcinoma    psoriasis    b-cell lymphomas    hiv-1


    NFATC2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    8 Novoseek inferred disease relationships for NFATC2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    graft-versus-host disease 20.3 1 11438213 (1)
    necrosis 17.9 8 8816436 (1), 7982959 (1), 16500900 (1), 1987353 (1) (see all 7)
    colon carcinoma 7.55 1 15632146 (1)
    lupus erythematosus systemic 0 1 16503201 (1)
    hypertrophy 0 2 17103021 (1), 16670201 (1)
    breast cancer 0 1 16880514 (1)
    tumors 0 14 12183075 (3), 8816436 (1), 20097868 (1), 7982959 (1) (see all 9)
    immunodeficiency 0 2 8834464 (1), 12949493 (1)

    Genetic Association Database (GAD): NFATC2
    Human Genome Epidemiology (HuGE) Navigator: NFATC2 (10 documents)

    Export disorders for NFATC2 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 NFATC2 gene, integrated from 10 sources (see all 251):
    (articles sorted by number of sources associating them with NFATC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Recombinant NFAT1 (NFATp) is regulated by calcineurin in T cells and mediates transcription of several cytokine genes. (PubMed id 8668213)1, 2, 9 Luo C.... Rao A. (Mol. Cell. Biol. 1996)
    2. Alternative splicing and expression of human and mouse NFAT genes. (PubMed id 18675896)1, 2, 9 Vihma H.... Timmusk T. (Genomics 2008)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Pathway-based approaches to imaging genetics association studies: Wnt signaling, GSK3beta substrates and major depression. (PubMed id 20219685)1, 4 Inkster B....Matthews P.M. (Neuroimage 2010)
    5. 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)
    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. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PubMed id 15144186)1, 2 Brill L.M....Peters E.C. (Anal. Chem. 2004)
    8. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    9. Generic signals and specific outcomes: signaling through Ca2+, calcineurin, and NF-AT. (PubMed id 10089876)1, 2 Crabtree G.R. (Cell 1999)
    10. NF-AT components define a family of transcription factors targeted in T-cell activation. (PubMed id 8202141)1, 3 Northrop J.P.... Crabtree G.R. (Nature 1994)

    (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: 4773 HGNC: 7776 AceView: NFATC2 Ensembl:ENSG00000101096 euGenes: HUgn4773
    ECgene: NFATC2 Kegg: 4773 H-InvDB: NFATC2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for NFATC2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NFATC2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NFATC2 gene:
    Search GeneIP for patents involving NFATC2

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



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