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

NFATC2 Gene

protein-coding   GIFtS: 66
GCID: GC20M050003

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

Microbiology & Infectious Diseases Congress
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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)
About This Section

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

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, and among its related super-pathways are Fc epsilon RI signaling pathway and BAFF in B-Cell Signaling. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NT_011362.10  NC_018931.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for NFATC2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
50,179,168 bp from pter
Size:
175,675 bases      Orientation:
minus 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: 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)
Subcellular location: 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
6/8 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:

  • UniProtKB: 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 activity
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13469

  • NFATC2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NFATC2 Protein Expression
    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   ENSP00000396471  
    Reactome Protein details: Q13469
    Human Recombinant Protein Products for NFATC2: 
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    Cloud-Clone Corp. Proteins for NFATC2 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (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



    NFATC2 Antibody Products: 
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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

    5/6 InterPro protein domains (see all 6):
     IPR014756 Ig_E-set
     IPR008967 p53-like_TF_DNA-bd
     IPR002909 IPT_TIG_rcpt
     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,
    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: 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 (GO ID links to tree view):    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 
     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 - Custom generated mouse model solutions for NFATC2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NFATC2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NFATC2


    (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 NFATC2 About   (see all 42)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Immune response Fc epsilon RI pathway
    Immune response BCR pathway0.45
    Immune response CD16 signaling in NK cells0.32
    VEGF signaling pathway0.39
    Natural killer cell mediated cytotoxicity0.31
    Fc-epsilon receptor I signaling in mast cells0.33
    2BAFF in B-Cell Signaling
    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
    B cell receptor signaling pathway0.42
    TCR Signaling Pathway0.35
    T cell receptor signaling pathway0.38
    4fMLP Pathway
    fMLP Pathway0.43
    Signal transduction Calcium signaling0.34
    Signal transduction Activation of PKC via G-Protein coupled receptor0.42
    5Wnt signaling pathway
    Wnt signaling pathway0.40
    Wnt Signaling Pathway0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/13 EMD Millipore Pathways for NFATC2 (see all 13)
        Signal transduction Calcium signaling
    Immune response CD16 signaling in NK cells
    Immune response IL-3 activation and signaling pathway
    Immune response NFAT in immune response
    Immune response IL-2 activation and signaling pathway

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

    5/31 Downloadable PowerPoint Slides of QIAGEN 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

    5/13 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

    5/10 BioSystems Pathways for NFATC2 (see all 10)
        Heart Development
    TCR Signaling Pathway
    B Cell Receptor Signaling Pathway
    Calcineurin-regulated NFAT-dependent transcription in lymphocytes
    Downstream signaling in naive CD8+ T cells

    4        Reactome Pathways for NFATC2
        Fc epsilon receptor (FCERI) signaling
    FCERI mediated Ca+2 mobilization
    Immune System
    Innate Immune System

    1 PharmGKB Pathway for NFATC2
        Tacrolimus/Cyclosporine Pathway, Pharmacodynamics

    5/9         Kegg Pathways  (Kegg details for NFATC2) (see all 9):
        Wnt signaling pathway
    Axon guidance
    VEGF signaling pathway
    Osteoclast differentiation
    Natural killer cell mediated cytotoxicity


    NFATC2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NFATC2

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

    5/103 Interacting proteins for NFATC2 (Q134691, 2, 3 ENSP000003793304) via UniProtKB, MINT, STRING, and/or I2D (see all 103)
    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): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001816cytokine production IEA--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent TAS8668213
    GO:0006974response 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 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

    NFATC2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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)

    Search CenterWatch for drugs/clinical trials and news about NFATC2 / NFAC2

    (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,
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    About This Section

    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  

    Unigene Cluster for NFATC2:

    Nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2
    Hs.744148  [show with all ESTs]
    Unigene Representative Sequence: NM_012340
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371564(uc002xwc.3 uc010zyv.2) ENST00000396009(uc002xwd.3 uc010zyw.2)
    ENST00000496054 ENST00000414705(uc010zyx.2 uc010zyy.2 uc010zyz.2 uc002xwe.3)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AK025758.1 AK226146.1 AK304147.1 AY927566.1 BC136418.1 BC144074.1 EU887573.1 EU887574.1 
    EU887575.1 EU887576.1 EU887577.1 EU887578.1 EU887579.1 EU887580.1 FJ573259.1 FJ573260.1 
    U43341.1 U43342.1 

    5 DOTS entries:

    DT.313953  DT.100754220  DT.91753121  DT.95208979  DT.99969200 

    24/103 AceView cDNA sequences (see all 103):

    BX279897 NM_012340 NM_173091 AA740241 AI365196 AA491103 BM822689 CD300621 
    BM766967 AA814436 AI347866 AW518114 AW028983 BM977026 AA490916 AA746235 
    AA648810 AI191843 AA789102 AU185751 AI458188 AI192984 BQ006208 AA886395 

    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™, 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

    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 
     5/8 selected tissues (see all 8) fully expand
     
     Lymph (Hematopoietic System)    fully expand to see all 4 entries
             lymph node ; non-germinal center cells   
             LYMPH NODE   
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             retinal progenitor cell e16.5   
     
     Tonsil (Hematopoietic System)    fully expand to see all 3 entries
             tonsil ; squamous epithelial cells   
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Cumulus Cells Antral Follicle
             oocyte   
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             testis ; cells in seminiferus ducts   

    See NFATC2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NFATC2

    SOURCE GeneReport for Unigene cluster: Hs.744148

    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

        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for NFATC2 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 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 73.59(n)
    77.78(a)
      419346  XM_417509.2  XP_417509.2 
    lizard
    (Anolis carolinensis)
    Reptilia NFATC26
    nuclear factor of activated T-cells, cytoplasmic, ...
    73(a)
    1 ↔ 1
    GL343226.1(1568053-1725115)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003332541 nuclear factor of activated T-cells, cytoplasmic 2-like 60.19(n)
    57.61(a)
      100333254  XM_003201225.1  XP_003201273.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta NFAT6
    NFAT homolog
    10(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)
    About This Section
    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) 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

    10/4247 SNPs in NFATC2 are shown (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 - 50179168 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

    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array containing NFATC2:
    Pancreatic Cancer
    SeqTarget long-range PCR primers for resequencing NFATC2
    DNA2.0 Custom Variant and Variant Library Synthesis for NFATC2

    (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: 600490    OMIM disorders: --

    20/32 diseases for NFATC2 (see all 32):    About MalaCards
    enchondroma    hypereosinophilic syndrome    bullous pemphigoid    aplastic anemia
    hemangioma    wiskott-aldrich syndrome    chondrosarcoma    noma
    b-cell chronic lymphocytic leukemia    narcolepsy    burkitt's lymphoma    graft versus host disease
    lupus erythematosus    psoriasis    b-cell lymphomas    hypertension
    type 1 diabetes    anemia    chronic lymphocytic leukemia    systemic lupus erythematosus


    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)
    About This Section

    PubMed articles for NFATC2 gene, integrated from 9 sources (see all 246):
    (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. (1996)
    2. Alternative splicing and expression of human and mouse NFAT genes. (PubMed id 18675896)1, 2, 9 Vihma H.... Timmusk T. (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. (2010)
    4. Pathway-based approaches to imaging genetics associat ion studies: Wnt signaling, GSK3beta substrates and major depression. (PubMed id 20219685)1, 4 Inkster B....Matthews P.M. (2010)
    5. 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)
    6. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (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. (2004)
    8. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    9. Generic signals and specific outcomes: signaling through Ca2+, calcineurin, and NF-AT. (PubMed id 10089876)1, 2 Crabtree G.R. (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. (1994)

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

    (According to HUGE)
    About This Section
      --

    (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 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.)
    About This Section
    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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    About This Section

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