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NFATC2 (nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2)

Written2012-07Sietse J Luk, Pancras CW Hogendoorn, Karoly Szuhai
Department of Molecular Cell Biology, Leiden University Medical Center, Einthovenweg 20, 2330 RC, Leiden, The Netherlands (SJL, KS); Department of Pathology, Leiden University Medical Center, Einthovenweg 20, 2330 RC, Leiden, The Netherlands (PCWH)

(Note : for Links provided by Atlas : click)

Identity

Alias_namesnuclear factor of activated T-cells
Alias_symbol (synonym)NF-ATP
NFATp
NFAT1
Other aliasNFATP
HGNC (Hugo) NFATC2
LocusID (NCBI) 4773
Atlas_Id 44004
Location 20q13.2  [Link to chromosome band 20q13]
Location_base_pair Starts at 51386957 and ends at 51562831 bp from pter ( according to hg19-Feb_2009)  [Mapping NFATC2.png]
Fusion genes
(updated 2016)
EWSR1 (22q12.2) / NFATC2 (20q13.2)FUS (16p11.2) / NFATC2 (20q13.2)MEF2A (15q26.3) / NFATC2 (20q13.2)
NFATC2 (20q13.2) / DTX3L (3q21.1)NFATC2 (20q13.2) / EWSR1 (22q12.2)NFATC2 (20q13.2) / RAE1 (20q13.31)

DNA/RNA

 
  Figure 1: Genomic organization of NFATC2. The NFATC2 gene is localized on the minus (-) strand of the 20q13.2 chromosome. Black boxes resemble untranslated regions (UTR's); colors of translated exons correspond to protein domains (see later); boxe sizes are in proportion to exon size.
Description The NFATC2 gene consists of 11 exons of which the last is the biggest. There are five known transcripts, varying from 7525 to 620 base pairs of which the largest four lead to a protein product (ensembl, last viewed at 10-04-2012) (Macian, 2005).
Transcription Transcription of the gene is from the - strand. Transcribed sequence contains both a 5'and a 3'-UTR region. The 5-UTR is located in exon 10 and the full exon 11 and is > 4500 bases in size. The large UTR indicates transcription control by small non-coding RNA and/or large non-coding RNA sequences (ensembl, last viewed at 10-04-2012).

Protein

 
  Figure 2: The NFATC2 protein. NHR, NFAT homology region; RHR, REL-homology region; NLS, nuclear localization signal; SRR, serine rich region; TAD, trans activation domain (Macian, 2005; Szuhai et al., 2009).
Description NFATc2 is part of the NFAT family of transcription factors. The conserved region of all NFAT proteins consists of two domains. The first is the NFAT Homology region (NHR) which is the regulatory domain. It contains a strong transactivation domain and many serine residues that are phosphorylated when the protein is inactive and resides in the cytoplasm. There are two serine rich regions (SRRs) and three SPXX-repeat motifs (SPs), where X stands for any amino acid. Calcineurin and NFAT kinases regulate the activity of the NFAT proteins by determining the phosphorylation status of the serine residues, interacting with NFAT proteins at the NHR.
Another, highly conserved region of the NFAT family is the DNA binding domain that is structurally related to the DNA binding domain of the Rel-Family of transcription factors. This domain, called the REL homology region (RHR) is also responsible for binding partner proteins like the AP1 complex.
There are three alternative splice variants of the NFATC2 protein, all of which occur in the C-terminal domain of the protein (Macian, 2005).
Expression Inactive NFATC2 normally resides in the cytoplasm where the serine residues in the NHR are phosphorylated. This phosphorylated state of the NHR results in configuration changes of the protein shielding the nuclear localisation signal (NLS). Activation of NFATC2 is regulated by a pathway including calcium influx to the cytoplasm, calmodulin and calcineurin. In response to various stimuli, calcium enters the cytoplasm from the environment and intracellular stores. Calcium binds calmodulin and this complex activates calcineurin. The activated calcineurin will dephosphorylate the SRRs and SPs of the NHR, resulting in the exposure of the NLS and translocation of the protein to the nucleus. Translocated NFAT binds to consensus DNA sites (WGGAAANHN (H is not G, N is any of the four nucleotides)) and control gene transcription with the help of other nuclear complexes such as the AP1 protein complex (Macian, 2005).
Several kinases have been identified to rephosphorylate NFAT proteins at multiple sites, thereby controlling their nuclear shuttling. These kinases include glycogen-synthase kinase 3 (GSK3), casein kinase 1 (CK1), p38, and JUN N-terminal kinase (JNK). Some of them act as maintenance kinases, to keep the NFAT proteins in the cytosol in a fully phosphorylated state, preventing them from nuclear shuttling. Others act as export kinases; they rephosphorylate NFAT in the nucleus and thereby promote the nuclear export of NFAT, stopping the NFAT driven transcription after calcineurin activity declines.
Another regulatory mechanism has been discovered for NFAT proteins which uses a non-coding RNA (ncRNA). Functional analysis of ncRNAs found a Non-coding repressor of NFAT (NRON). When NRON was deactivated by small hairpin RNA (shRNA), a dramatic increase in NFAT activity was measured. NRON directly binds to 11 proteins, of which four are repressors of NFAT. NRON probably interacts with the nuclear shuttling of NFAT proteins which is demonstrated by an increase in nuclear localisation upon treatment with NRON shRNA (Rao et al., 1997; Willingham et al., 2005; Macian, 2005).
At this moment, 8 different microRNA's, which target 5 locations on the NFATC2 gene have been discovered (ensembl last viewed at 10-04-2012).
Localisation In its inactive form, NFATC2 resides in the cytoplasm. When activated it translocates to the nucleus (Macian, 2005).
Function NFATC2 is a transcription factor that forms complexes with other nuclear proteins including the AP-1 complex and regulates transcription of a large number of genes. It thereby regulates many processes including cell differentiation, migration and angiogenesis. It is, together with the other NFAT's, essential for the development of multiple organ systems, including the nerve and immune system, the heart and skeletal muscles, the vasculature, the lungs and the skeletal structures. Because of their multiple functions, dysfunction of NFAT's may play a role in pathobiology of cancer (Wu et al., 2007; Macian, 2005).
Homology NFATC2 shows great similarity with the NFATC1, NFATC3 and NFATC4 proteins. The RHR shows great similarity with the DNA binding sites of proteins of the REL family of transcription factors (Hogan et al., 2003).

Implicated in

Note
  
Entity Ewing sarcomalike small blue round cell tumour
Note The NFATC2 gene was found to be involved in a chromosomal translocation found in an Ewing sarcomalike small blue round cell tumour. In this entity, the EWSR1 gene is fused in frame with the NFATC2 gene resulting in a chimera gene. In addition, an amplification of the chimera gene has been observed, something that hasn't been seen in other EWSR1 gene translocation tumours (Szuhai et al., 2007; Szuhai et al., 2009).
 
Figure 3: Translocation at DNA level. Numbers correspond to exon numbers; black regions are untranslated regions; box sizes are in proportion to exon size; colors correspond to protein domains.
Abnormal Protein In the chimera protein, the regulatory domain of the EWSR1 protein is fused with the functional domain of the NFATC2 gene. EWSR1 is a member of the TET family of proteins and has a predominantly nuclear localization. It contains a domain for nucleic acid binding and has, among others a function in RNA polymerase II- mediated transcription and premRNA splicing. In the chimera protein, the N-terminal regulatory domain of NFATC2 is completely replaced by the regulatory domain of the EWSR1 protein. In this way, the localization of the NFATC2 containing chimera is not under the control of the Ca2+ dependent calcineurin/calmodulin phosphorylation. Instead, the chimera gains the strong, highly conserved NLS of EWSR1 which leads to uncontrolled shuttling of the chimera to the nucleus. Also, because the transcription of the chimera is under control of the regulatory domain of EWSR1, the regulatory loop of NFATC2 is abrogated. The RHR of NFATC2, which is responsible for DNA binding and the complex formation with other proteins such as the AP-1 complex is completely retained in the chimera (Szuhai et al., 2009; Tan et al., 2009).
 
Figure 4: Translocation at protein level. Yellow box corresponds to nuclear localisation signal.
Oncogenesis Some homology can be seen between this recently described small blue round cell tumour and Ewing sarcoma. In Ewing Sarcoma, the EWSR1 gene forms a chimera with members of the ETS family. In this entity, the member of the ETS family is replaced by NFATC2. The consensus sequence for the ETS family contains a core domain of GGAW (W is a wobble for A or T), whereas the conserved core domain for NFAT is WGGAAANHN (H is not G, N is any of the four nucleotides). There is complete overlap between the core domain of ETS and NFAT for the GGAA sequence variant, which might be responsible for the similar histological features of tumors despite the involvement of different transcription factor families.
Both ETS family members, the EWS/FLI chimera and NFATC2 form complexes with AP-1. It has yet to be determined whether the EWSR1/NFATC2 chimera does this as well (Szuhai et al., 2009; Sankar et al., 2011).
  
  
Entity Non small cell lung cancer
Note The expression of NFATC2 in non small cell lung cancer is positively correlated with progression in TNM stage: the higher the TNM stage, the higher the expression of NFATC2. High expression of NFATC2 is also a predictor for a low post-operative survival indicating that it promotes lung cancer and metastasis by serving as an oncogene (Chen et al., 2011).
  
  
Entity Breast cancer
Note Stat 5 signalling.
Stat5, a member of the signal transducers and activators of transcription (stat) family of proteins, promotes tumor growth, but suppresses metastasis in breast cancer. NFATC2 has exactly the opposite effects; it inhibits tumor growth and promotes tumor metastasis. NFATC2 down regulates the Stat5 signaling pathway and vice versa. Also, the expression of the two genes is negatively correlated in a breast cancer progression tissue micro array (TMA). NFATC2 is expressed more in metastatic tissue than in normal tissue and primary tumor but Stat5 is the other way around (Zheng et al., 2011).
  
  
Entity Various cancers
Note Regulation of tissue micro environment.
Experiments in mice have been performed to assess the influence of NFATC2 on metastasis formation and growth. Therefore NFATC2 null(-/-) mice were compared with NFATC2 normal(+/+) mice after intravenous injection of F16F10 melanoma cells. NFATC2-/- mice showed less and smaller metastases. Both the NFATC2 null(-/-) and wild type mice were treated with a wild type bone marrow transplantation to make sure differences were caused by the lack of NFATC2 in the lung parenchyma and not because of a dysfunction of the immune system (Werneck et al., 2011).
In hepatocellular carcinoma, colon carcinoma and breast cancer, NFATC2 plays an important role in regulating genes that affect tumoral phenotype such as cyclooxygenase-2 (COX-2). COX-2 is a key regulator in the expression of matrix metalloproteinase 1 and matrix metalloproteinase 2 and thereby of tumour invasion (Lara-Pezzi et al., 2002; Duque et al., 2005; Yiu et al., 2006).
  
  
Entity α6β4 integrin signalling
Note NFAT signalling (including NFATC2 signalling) is part of the pathway that is activated in α6β4 integrin mediated cell invasion and migration. This pathway leads to the expression of autotoxin. It is suggested that α6β4 integrin mediated cell invasion is at least in part due to the increased expression of autotoxin (Jauliac et al., 2002; Chen et al., 2005).
  

Bibliography

Integrin alpha6beta4 promotes expression of autotaxin/ENPP2 autocrine motility factor in breast carcinoma cells.
Chen M, O'Connor KL.
Oncogene. 2005 Jul 28;24(32):5125-30.
PMID 15897878
 
Expression and unique functions of four nuclear factor of activated T cells isoforms in non-small cell lung cancer.
Chen ZL, Zhao SH, Wang Z, Qiu B, Li BZ, Zhou F, Tan XG, He J.
Chin J Cancer. 2011 Jan;30(1):62-8.
PMID 21192845
 
Expression and function of the nuclear factor of activated T cells in colon carcinoma cells: involvement in the regulation of cyclooxygenase-2.
Duque J, Fresno M, Iniguez MA.
J Biol Chem. 2005 Mar 11;280(10):8686-93. Epub 2005 Jan 4.
PMID 15632146
 
Transcriptional regulation by calcium, calcineurin, and NFAT.
Hogan PG, Chen L, Nardone J, Rao A.
Genes Dev. 2003 Sep 15;17(18):2205-32. (REVIEW)
PMID 12975316
 
The role of NFAT transcription factors in integrin-mediated carcinoma invasion.
Jauliac S, Lopez-Rodriguez C, Shaw LM, Brown LF, Rao A, Toker A.
Nat Cell Biol. 2002 Jul;4(7):540-4.
PMID 12080349
 
The hepatitis B virus X protein promotes tumor cell invasion by inducing membrane-type matrix metalloproteinase-1 and cyclooxygenase-2 expression.
Lara-Pezzi E, Gomez-Gaviro MV, Galvez BG, Mira E, Iniguez MA, Fresno M, Martinez-A C, Arroyo AG, Lopez-Cabrera M.
J Clin Invest. 2002 Dec;110(12):1831-8.
PMID 12488433
 
NFAT proteins: key regulators of T-cell development and function.
Macian F.
Nat Rev Immunol. 2005 Jun;5(6):472-84. (REVIEW)
PMID 15928679
 
Transcription factors of the NFAT family: regulation and function.
Rao A, Luo C, Hogan PG.
Annu Rev Immunol. 1997;15:707-47. (REVIEW)
PMID 9143705
 
Promiscuous partnerships in Ewing's sarcoma.
Sankar S, Lessnick SL.
Cancer Genet. 2011 Jul;204(7):351-65. doi: 10.1016/j.cancergen.2011.07.008. (REVIEW)
PMID 21872822
 
Detection and molecular cytogenetic characterization of a novel ring chromosome in a histological variant of Ewing sarcoma.
Szuhai K, IJszenga M, Tanke HJ, Taminiau AH, de Schepper A, van Duinen SG, Rosenberg C, Hogendoorn PC.
Cancer Genet Cytogenet. 2007 Jan 1;172(1):12-22.
PMID 17175374
 
The NFATc2 gene is involved in a novel cloned translocation in a Ewing sarcoma variant that couples its function in immunology to oncology.
Szuhai K, Ijszenga M, de Jong D, Karseladze A, Tanke HJ, Hogendoorn PC.
Clin Cancer Res. 2009 Apr 1;15(7):2259-68. Epub 2009 Mar 24.
PMID 19318479
 
The TET family of proteins: functions and roles in disease.
Tan AY, Manley JL.
J Mol Cell Biol. 2009 Dec;1(2):82-92. Epub 2009 Sep 24. (REVIEW)
PMID 19783543
 
NFAT1 transcription factor is central in the regulation of tissue microenvironment for tumor metastasis.
Werneck MB, Vieira-de-Abreu A, Chammas R, Viola JP.
Cancer Immunol Immunother. 2011 Apr;60(4):537-46. Epub 2011 Jan 12.
PMID 21225259
 
A strategy for probing the function of noncoding RNAs finds a repressor of NFAT.
Willingham AT, Orth AP, Batalov S, Peters EC, Wen BG, Aza-Blanc P, Hogenesch JB, Schultz PG.
Science. 2005 Sep 2;309(5740):1570-3.
PMID 16141075
 
NFAT signaling and the invention of vertebrates.
Wu H, Peisley A, Graef IA, Crabtree GR.
Trends Cell Biol. 2007 Jun;17(6):251-60. Epub 2007 May 10.
PMID 17493814
 
NFAT induces breast cancer cell invasion by promoting the induction of cyclooxygenase-2.
Yiu GK, Toker A.
J Biol Chem. 2006 May 5;281(18):12210-7. Epub 2006 Feb 27.
PMID 16505480
 
Negative cross talk between NFAT1 and Stat5 signaling in breast cancer.
Zheng J, Fang F, Zeng X, Medler TR, Fiorillo AA, Clevenger CV.
Mol Endocrinol. 2011 Dec;25(12):2054-64. Epub 2011 Sep 29.
PMID 21964595
 

Citation

This paper should be referenced as such :
Luk, Sietse J ; Hogendoorn, PCW ; Szuhai, K
NFATC2 (nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2)
Atlas Genet Cytogenet Oncol Haematol. 2013;17(1):35-39.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/NFATC2ID44004ch20q13.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  i(7)(q10)


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  Soft Tissues: Ewing's tumors/Primitive neurectodermal tumors (PNET)
Soft tissue tumors: an overview


External links

Nomenclature
HGNC (Hugo)NFATC2   7776
Cards
AtlasNFATC2ID44004ch20q13
Entrez_Gene (NCBI)NFATC2  4773  nuclear factor of activated T-cells 2
AliasesNFAT1; NFATP
GeneCards (Weizmann)NFATC2
Ensembl hg19 (Hinxton)ENSG00000101096 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000101096 [Gene_View]  chr20:51386957-51562831 [Contig_View]  NFATC2 [Vega]
ICGC DataPortalENSG00000101096
TCGA cBioPortalNFATC2
AceView (NCBI)NFATC2
Genatlas (Paris)NFATC2
WikiGenes4773
SOURCE (Princeton)NFATC2
Genetics Home Reference (NIH)NFATC2
Genomic and cartography
GoldenPath hg38 (UCSC)NFATC2  -     chr20:51386957-51562831 -  20q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NFATC2  -     20q13.2   [Description]    (hg19-Feb_2009)
EnsemblNFATC2 - 20q13.2 [CytoView hg19]  NFATC2 - 20q13.2 [CytoView hg38]
Mapping of homologs : NCBINFATC2 [Mapview hg19]  NFATC2 [Mapview hg38]
OMIM600490   
Gene and transcription
Genbank (Entrez)AK025758 AK226146 AK304147 AY927566 BC136418
RefSeq transcript (Entrez)NM_001136021 NM_001258292 NM_001258294 NM_001258295 NM_001258296 NM_001258297 NM_012340 NM_173091
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NFATC2
Cluster EST : UnigeneHs.744148 [ NCBI ]
CGAP (NCI)Hs.744148
Alternative Splicing GalleryENSG00000101096
Gene ExpressionNFATC2 [ NCBI-GEO ]   NFATC2 [ EBI - ARRAY_EXPRESS ]   NFATC2 [ SEEK ]   NFATC2 [ MEM ]
Gene Expression Viewer (FireBrowse)NFATC2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4773
GTEX Portal (Tissue expression)NFATC2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13469   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13469  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13469
Splice isoforms : SwissVarQ13469
PhosPhoSitePlusQ13469
Domaine pattern : Prosite (Expaxy)REL_2 (PS50254)   
Domains : Interpro (EBI)Ig-like_fold    Ig_E-set    IPT    NFAT    p53-like_TF_DNA-bd    RHD_dimer    RHD_DNA_bind_dom   
Domain families : Pfam (Sanger)RHD_dimer (PF16179)    RHD_DNA_bind (PF00554)   
Domain families : Pfam (NCBI)pfam16179    pfam00554   
Domain families : Smart (EMBL)IPT (SM00429)  
Conserved Domain (NCBI)NFATC2
DMDM Disease mutations4773
Blocks (Seattle)NFATC2
PDB (SRS)1A02    1OWR    1P7H    1PZU    1S9K    2AS5    2O93    3QRF   
PDB (PDBSum)1A02    1OWR    1P7H    1PZU    1S9K    2AS5    2O93    3QRF   
PDB (IMB)1A02    1OWR    1P7H    1PZU    1S9K    2AS5    2O93    3QRF   
PDB (RSDB)1A02    1OWR    1P7H    1PZU    1S9K    2AS5    2O93    3QRF   
Structural Biology KnowledgeBase1A02    1OWR    1P7H    1PZU    1S9K    2AS5    2O93    3QRF   
SCOP (Structural Classification of Proteins)1A02    1OWR    1P7H    1PZU    1S9K    2AS5    2O93    3QRF   
CATH (Classification of proteins structures)1A02    1OWR    1P7H    1PZU    1S9K    2AS5    2O93    3QRF   
SuperfamilyQ13469
Human Protein AtlasENSG00000101096
Peptide AtlasQ13469
HPRD02730
IPIIPI00297845   IPI00247309   IPI00939862   IPI00922162   
Protein Interaction databases
DIP (DOE-UCLA)Q13469
IntAct (EBI)Q13469
FunCoupENSG00000101096
BioGRIDNFATC2
STRING (EMBL)NFATC2
ZODIACNFATC2
Ontologies - Pathways
QuickGOQ13469
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  nuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  cytokine production  DNA binding  chromatin binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytoplasm  cytosol  cytosol  regulation of transcription, DNA-templated  transcription from RNA polymerase II promoter  cellular response to DNA damage stimulus  transcription factor binding  myotube cell development  cell migration  intracellular ribonucleoprotein complex  positive regulation of B cell proliferation  calcineurin-NFAT signaling cascade  Fc-epsilon receptor signaling pathway  response to drug  nuclear transcription factor complex  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  B cell receptor signaling pathway  positive regulation of myoblast fusion  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  nuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  cytokine production  DNA binding  chromatin binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytoplasm  cytosol  cytosol  regulation of transcription, DNA-templated  transcription from RNA polymerase II promoter  cellular response to DNA damage stimulus  transcription factor binding  myotube cell development  cell migration  intracellular ribonucleoprotein complex  positive regulation of B cell proliferation  calcineurin-NFAT signaling cascade  Fc-epsilon receptor signaling pathway  response to drug  nuclear transcription factor complex  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  B cell receptor signaling pathway  positive regulation of myoblast fusion  
Pathways : BIOCARTA [Genes]   
Pathways : KEGG   
REACTOMEQ13469 [protein]
REACTOME PathwaysR-HSA-5607763 [pathway]   
NDEx NetworkNFATC2
Atlas of Cancer Signalling NetworkNFATC2
Wikipedia pathwaysNFATC2
Orthology - Evolution
OrthoDB4773
GeneTree (enSembl)ENSG00000101096
Phylogenetic Trees/Animal Genes : TreeFamNFATC2
HOVERGENQ13469
HOGENOMQ13469
Homologs : HomoloGeneNFATC2
Homology/Alignments : Family Browser (UCSC)NFATC2
Gene fusions - Rearrangements
Fusion : MitelmanEWSR1/NFATC2 [22q12.2/20q13.2]  [t(20;22)(q13;q12)]  
Fusion : MitelmanFUS/NFATC2 [16p11.2/20q13.2]  [t(16;20)(p11;q13)]  
Fusion : MitelmanMEF2A/NFATC2 [15q26.3/20q13.2]  [t(15;20)(q26;q13)]  
Fusion : COSMICEWSR1 [22q12.2]  -  NFATC2 [20q13.2]  [fusion_1180]  [fusion_1181]  [fusion_1184]  
Fusion : COSMICNFATC2 [20q13.2]  -  EWSR1 [22q12.2]  [fusion_1182]  [fusion_1183]  
Fusion: TCGAMEF2A 15q26.3 NFATC2 20q13.2 BRCA
Fusion : TICdbEWSR1 [22q12.2]  -  NFATC2 [20q13.2]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNFATC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NFATC2
dbVarNFATC2
ClinVarNFATC2
1000_GenomesNFATC2 
Exome Variant ServerNFATC2
ExAC (Exome Aggregation Consortium)NFATC2 (select the gene name)
Genetic variants : HAPMAP4773
Genomic Variants (DGV)NFATC2 [DGVbeta]
DECIPHERNFATC2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNFATC2 
Mutations
ICGC Data PortalNFATC2 
TCGA Data PortalNFATC2 
Broad Tumor PortalNFATC2
OASIS PortalNFATC2 [ Somatic mutations - Copy number]
Cancer Gene: CensusNFATC2 
Somatic Mutations in Cancer : COSMICNFATC2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNFATC2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch NFATC2
DgiDB (Drug Gene Interaction Database)NFATC2
DoCM (Curated mutations)NFATC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NFATC2 (select a term)
intoGenNFATC2
NCG5 (London)NFATC2
Cancer3DNFATC2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600490   
Orphanet
MedgenNFATC2
Genetic Testing Registry NFATC2
NextProtQ13469 [Medical]
TSGene4773
GENETestsNFATC2
Target ValidationNFATC2
Huge Navigator NFATC2 [HugePedia]
snp3D : Map Gene to Disease4773
BioCentury BCIQNFATC2
ClinGenNFATC2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4773
Chemical/Pharm GKB GenePA31583
Clinical trialNFATC2
Miscellaneous
canSAR (ICR)NFATC2 (select the gene name)
Probes
Litterature
PubMed188 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNFATC2
EVEXNFATC2
GoPubMedNFATC2
iHOPNFATC2
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jun 30 11:13:13 CEST 2017

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