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Aliases for NFATC2 Gene

Aliases for NFATC2 Gene

  • Nuclear Factor Of Activated T-Cells 2 2 3 5
  • Nuclear Factor Of Activated T-Cells, Cytoplasmic, Calcineurin-Dependent 2 2 3
  • NFAT Pre-Existing Subunit 3 4
  • NF-ATc2 3 4
  • NFAT1 3 4
  • NFATP 3 4
  • Nuclear Factor Of Activated T-Cells, Preexisting Component 3
  • Nuclear Factor Of Activated T-Cells, Cytoplasmic 2 3
  • NFAT Transcription Complex, Preexisting Component 3
  • Preexisting Nuclear Factor Of Activated T-Cells 2 3
  • T Cell Transcription Factor NFAT1 3
  • T-Cell Transcription Factor NFAT1 4
  • NF-ATp 4
  • NFATc2 4

External Ids for NFATC2 Gene

Previous GeneCards Identifiers for NFATC2 Gene

  • GC20M049743
  • GC20M050646
  • GC20M050693
  • GC20M049442
  • GC20M050003
  • GC20M046756

Summaries for NFATC2 Gene

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 2) is a Protein Coding gene. Diseases associated with NFATC2 include Leukostasis and Fibrosarcoma Of Bone. Among its related pathways are ICos-ICosL Pathway in T-Helper Cell and RANK Signaling in Osteoclasts. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is NFATC1.

UniProtKB/Swiss-Prot for NFATC2 Gene

  • 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.

Tocris Summary for NFATC2 Gene

  • NFAT (Nuclear Factor of Activated T-Cells) proteins are transcription factors that are integral for the development and function of the immune system. Five NFAT isoforms have been identified to date, NFATC1-C4 and NFAT5.

Gene Wiki entry for NFATC2 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NFATC2 Gene

Genomics for NFATC2 Gene

Regulatory Elements for NFATC2 Gene

Enhancers for NFATC2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20G051398 1.9 FANTOM5 Ensembl ENCODE dbSUPER 29.7 +159.9 159923 8.2 HDGF PKNOX1 MLX ARID4B YBX1 ZNF48 ZBTB7B CBX5 ZNF143 ZNF207 NFATC2 DPM1 ENSG00000232043 PSMD10P1 ADNP-AS1 GC20M051426 LOC105372663
GH20G051491 2 FANTOM5 Ensembl ENCODE dbSUPER 26.9 +66.8 66783 9.5 CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 NFATC2 PSMD10P1 GC20M051470
GH20G051528 1.9 FANTOM5 Ensembl ENCODE dbSUPER 23 +31.7 31731 6.1 HDGF ATF1 PKNOX1 SIN3A DMAP1 YBX1 YY1 ZNF766 ELK1 GATA2 NFATC2 GC20M051470
GH20G051411 1.9 FANTOM5 Ensembl ENCODE dbSUPER 19.9 +147.6 147641 6.9 FOXA2 PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 CBX5 NFATC2 ENSG00000232358 ADNP-AS1 GC20M051426 LOC105372663
GH20G051534 1.9 FANTOM5 Ensembl ENCODE dbSUPER 16.8 +27.0 26984 2.6 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 FEZF1 YBX1 ZBTB7B NFATC2 GC20M051470
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NFATC2 on UCSC Golden Path with GeneCards custom track

Promoters for NFATC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000298883 258 1201 HDGF FOXA2 SIN3A ZBTB7B GLIS2 ELK1 ZNF263 NFYC MXD4 REST
ENSR00000138686 1358 201 PKNOX1 BMI1 ZNF2 ZEB1 ZKSCAN1 MTA3 ZNF366 PATZ1 EZH2 EGR2

Genomic Location for NFATC2 Gene

Chromosome:
20
Start:
51,386,957 bp from pter
End:
51,562,858 bp from pter
Size:
175,902 bases
Orientation:
Minus strand

Genomic View for NFATC2 Gene

Genes around NFATC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NFATC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NFATC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NFATC2 Gene

Proteins for NFATC2 Gene

  • Protein details for NFATC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13469-NFAC2_HUMAN
    Recommended name:
    Nuclear factor of activated T-cells, cytoplasmic 2
    Protein Accession:
    Q13469
    Secondary Accessions:
    • B5B2N8
    • B5B2N9
    • B5B2P0
    • B5B2P2
    • B5B2P3
    • Q13468
    • Q5TFW7
    • Q5TFW8
    • Q9NPX6
    • Q9NQH3
    • Q9UJR2

    Protein attributes for NFATC2 Gene

    Size:
    925 amino acids
    Molecular mass:
    100146 Da
    Quaternary structure:
    • 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). Interacts with FOXP3.

    Three dimensional structures from OCA and Proteopedia for NFATC2 Gene

    Alternative splice isoforms for NFATC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NFATC2 Gene

Post-translational modifications for NFATC2 Gene

  • 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.
  • Ubiquitinated in endothelial cells by RNF213 downstream of the non-canonical Wnt signaling pathway, leading to its degradation by the proteasome.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NFATC2 (NFAT1)
  • Abcam antibodies for NFATC2
  • Cloud-Clone Corp. Antibodies for NFATC2

No data available for DME Specific Peptides for NFATC2 Gene

Domains & Families for NFATC2 Gene

Gene Families for NFATC2 Gene

Graphical View of Domain Structure for InterPro Entry

Q13469

UniProtKB/Swiss-Prot:

NFAC2_HUMAN :
  • the 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
Domain:
  • the 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
  • Rel Similarity Domain (RSD) allows DNA-binding and cooperative interactions with AP1 factors.
genes like me logo Genes that share domains with NFATC2: view

Function for NFATC2 Gene

Molecular function for NFATC2 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for NFATC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IEA --
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IEA --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
genes like me logo Genes that share ontologies with NFATC2: view
genes like me logo Genes that share phenotypes with NFATC2: view

Animal Models for NFATC2 Gene

MGI Knock Outs for NFATC2:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NFATC2 Gene

Localization for NFATC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NFATC2 Gene

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NFATC2 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
cytoskeleton 2
extracellular 1

Gene Ontology (GO) - Cellular Components for NFATC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IEA --
GO:0005634 nucleus TAS 8668213
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA --
GO:0005737 cytoplasm TAS 8668213
genes like me logo Genes that share ontologies with NFATC2: view

Pathways & Interactions for NFATC2 Gene

genes like me logo Genes that share pathways with NFATC2: view

SIGNOR curated interactions for NFATC2 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for NFATC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001816 cytokine production IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated TAS 8668213
GO:0006366 transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with NFATC2: view

Drugs & Compounds for NFATC2 Gene

(8) Drugs for NFATC2 Gene - From: PharmGKB, ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Asparaginase Approved Pharma 229
NFAT Inhibitor Pharma NFAT inhibitor, Inhibitor of calcineurin-mediated NFAT activation 0
calcium Nutra 0

(2) Additional Compounds for NFATC2 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
NFAT inhibitor, Cell Permeable
592517-80-1

(2) Tocris Compounds for NFATC2 Gene

Compound Action Cas Number
NFAT Inhibitor Inhibitor of calcineurin-mediated NFAT activation 249537-73-3
NFAT inhibitor, Cell Permeable Cell permeable NFAT inhibitor 592517-80-1

(1) ApexBio Compounds for NFATC2 Gene

Compound Action Cas Number
NFAT Inhibitor NFAT inhibitor 249537-73-3
genes like me logo Genes that share compounds with NFATC2: view

Transcripts for NFATC2 Gene

Unigene Clusters for NFATC2 Gene

Nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NFATC2 Gene

No ASD Table

Relevant External Links for NFATC2 Gene

GeneLoc Exon Structure for
NFATC2
ECgene alternative splicing isoforms for
NFATC2

Expression for NFATC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NFATC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NFATC2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (27.5), NK cells (19.6), and CD8 Tcells (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NFATC2 Gene



Protein tissue co-expression partners for NFATC2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NFATC2 Gene:

NFATC2

SOURCE GeneReport for Unigene cluster for NFATC2 Gene:

Hs.744148

mRNA Expression by UniProt/SwissProt for NFATC2 Gene:

Q13469-NFAC2_HUMAN
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.

Evidence on tissue expression from TISSUES for NFATC2 Gene

  • Liver(4.2)
  • Blood(2.9)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with NFATC2: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NFATC2 Gene

Orthologs for NFATC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for NFATC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NFATC2 34 35
  • 99.57 (n)
dog
(Canis familiaris)
Mammalia NFATC2 34 35
  • 91.8 (n)
cow
(Bos Taurus)
Mammalia NFATC2 34 35
  • 89.65 (n)
mouse
(Mus musculus)
Mammalia Nfatc2 34 16 35
  • 87.14 (n)
rat
(Rattus norvegicus)
Mammalia Nfatc2 34
  • 86.7 (n)
oppossum
(Monodelphis domestica)
Mammalia NFATC2 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NFATC2 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves NFATC2 34 35
  • 73.87 (n)
lizard
(Anolis carolinensis)
Reptilia NFATC2 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nfatc2 34
  • 69.66 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100333254 34
  • 59.19 (n)
NFATC2 (1 of 2) 35
  • 54 (a)
OneToMany
CABZ01041608.1 35
  • 47 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta NFAT 35
  • 11 (a)
OneToMany
Species where no ortholog for NFATC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NFATC2 Gene

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

Paralogs for NFATC2 Gene

Paralogs for NFATC2 Gene

(1) SIMAP similar genes for NFATC2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with NFATC2: view

Variants for NFATC2 Gene

Sequence variations from dbSNP and Humsavar for NFATC2 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1000004679 -- 51,400,380(+) GGGAC(A/C)AGGTT intron-variant
rs1000014784 -- 51,563,201(+) CCGCC(C/T)TCCCT upstream-variant-2KB
rs1000027112 -- 51,404,557(+) TAACC(A/G)AAAGT intron-variant
rs1000052732 -- 51,525,369(+) GTTCT(A/G)TGTCA intron-variant
rs1000081362 -- 51,433,067(+) GAATG(C/T)TTGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NFATC2 Gene

Variant ID Type Subtype PubMed ID
esv2534215 CNV insertion 19546169
esv2722509 CNV deletion 23290073
esv2722510 CNV deletion 23290073
esv2722511 CNV deletion 23290073
esv2722512 CNV deletion 23290073
esv2722513 CNV deletion 23290073
esv2751917 CNV gain 17911159
nsv1055542 CNV gain 25217958
nsv1073066 CNV deletion 25765185
nsv1143988 CNV deletion 24896259

Variation tolerance for NFATC2 Gene

Residual Variation Intolerance Score: 13.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.42; 54.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NFATC2 Gene

Human Gene Mutation Database (HGMD)
NFATC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NFATC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NFATC2 Gene

Disorders for NFATC2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for NFATC2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
leukostasis
fibrosarcoma of bone
  • fibrosarcoma of the bone
narcolepsy
  • narcolepsy, without cataplexy
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NFATC2

Genetic Association Database (GAD)
NFATC2
Human Genome Epidemiology (HuGE) Navigator
NFATC2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NFATC2
genes like me logo Genes that share disorders with NFATC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NFATC2 Gene

Publications for NFATC2 Gene

  1. Alternative splicing and expression of human and mouse NFAT genes. (PMID: 18675896) Vihma H. … Timmusk T. (Genomics 2008) 3 4 22 64
  2. Recombinant NFAT1 (NFATp) is regulated by calcineurin in T cells and mediates transcription of several cytokine genes. (PMID: 8668213) Luo C. … Rao A. (Mol. Cell. Biol. 1996) 3 4 22 64
  3. NFAT promotes carcinoma invasive migration through glypican-6. (PMID: 21871017) Yiu G.K. … Toker A. (Biochem. J. 2011) 3 4 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  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. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for NFATC2 Gene

Sources for NFATC2 Gene

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