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 ce... See more...

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
  • Nuclear Factor Of Activated T-Cells, Cytoplasmic 2 3 4
  • 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
  • NFAT Transcription Complex, Preexisting Component 3
  • Preexisting Nuclear Factor Of Activated T-Cells 2 3
  • Nuclear Factor Of Activated T-Cells 2 2
  • 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 Crouzon Syndrome With Acanthosis Nigricans. Among its related pathways are Oxytocin signaling pathway and Immune response Fc epsilon RI pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is NFATC1.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for NFATC2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NFATC2 Gene

Genomics for NFATC2 Gene

GeneHancer (GH) Regulatory Elements for NFATC2 Gene

Promoters and enhancers for NFATC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J051560 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 505.4 -0.1 -74 5.3 CTCF ZSCAN5C TCF12 NCOR1 PHF8 JUND FOS ZNF639 ZIC2 REST NFATC2 ZFP64 ADNP DPM1 piR-61101-414
GH20J051539 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.4 +21.3 21305 4.1 HNRNPK ZNF217 CTCF SIN3A NRF1 POLR2G NCOR1 ZFX KDM6A ZNF263 HSALNG0130838 NFATC2 ADNP ZFP64 HSALNG0130833
GH20J051524 Promoter/Enhancer 1.2 EPDnew ENCODE dbSUPER 500.3 +37.1 37137 2.6 RELA ZNF316 MAFF MAFK SPI1 ZFHX2 BCOR GATA3 FOXA1 EBF1 NFATC2 HSALNG0130838 HSALNG0130833
GH20J051398 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 29.7 +159.9 159922 8.2 ZNF217 SP1 EP300 REST ZNF623 RELA CUX1 TRIM22 POLR2A CTBP1 NFATC2 ADNP-AS1 lnc-ATP9A-2 MIR3194
GH20J051491 Enhancer 1.5 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 26.9 +66.9 66877 9.3 NRF1 EP300 ZIC2 ZBTB11 ZNF623 REST RELA MEF2C HES1 MYC NFATC2 PSMD10P1 HSALNG0130833 HSALNG0130838
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NFATC2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NFATC2

Top Transcription factor binding sites by QIAGEN in the NFATC2 gene promoter:
  • c-Rel
  • Elk-1
  • NF-kappaB
  • NF-kappaB1

Genomic Locations for NFATC2 Gene

Genomic Locations for NFATC2 Gene
chr20:51,386,957-51,562,858
(GRCh38/hg38)
Size:
175,902 bases
Orientation:
Minus strand
chr20:50,003,494-50,179,370
(GRCh37/hg19)
Size:
175,877 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 (PubMed:15790681). Interacts with TBX21 ('Thr-303' phosphorylated form) (By similarity). Interacts with KAT2A (By similarity). Interacts with HOMER2 and HOMER3; this interaction competes with calcineurin/PPP3CA-binding and hence prevents NFATC2 dephosphorylation and activation (PubMed:18218901). Interacts with protein phosphatase PPP3CA/calcineurin A (PubMed:26248042).

    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

  • Abcam antibodies for NFATC2
  • Biorbyt antibodies for NFATC2

No data available for DME Specific Peptides for NFATC2 Gene

Domains & Families for NFATC2 Gene

Gene Families for NFATC2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for NFATC2 Gene

Blocks:
  • Cell surface receptor IPT/TIG
  • Nuclear factor of activated T cells (NFAT) signature
  • Rel homology
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NFATC2 Gene

GenScript: Design optimal peptide antigens:
  • Nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2, isoform CRA_a (B5B2N8_HUMAN)
  • Nuclear factor of activated T-cells c2 isoform IB-IIS-Xa (B5B2P0_HUMAN)
  • Nuclear factor of activated T-cells c2 isoform IA-IIL-deltaXa (B5B2P2_HUMAN)
  • Nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2, isoform CRA_b (B5B2P3_HUMAN)
  • Nuclear factor of activated T-cells c2 isoform IB-IIS-deltaXa (B5B2P4_HUMAN)

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

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.
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

Phenotypes From GWAS Catalog for NFATC2 Gene

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 proximal promoter sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IEA --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific 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:

Clone 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 3
cytoskeleton 3
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NFATC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus TAS,IBA 8668213
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IBA 21873635
GO:0005737 cytoplasm TAS 8668213
genes like me logo Genes that share ontologies with NFATC2: view

Pathways & Interactions for NFATC2 Gene

PathCards logo

SuperPathways for NFATC2 Gene

SuperPathway Contained pathways
1 T cell receptor signaling pathway
2 Activation of cAMP-Dependent PKA
.77
.77
.71
.56
3 RANK Signaling in Osteoclasts
.92
.92
.45
.39
4 TCR Signaling (Qiagen)
.68
.68
.54
.49
5 Immune response NFAT in immune response
.56
.56
.52
.52
genes like me logo Genes that share pathways with NFATC2: view

Pathways by source for NFATC2 Gene

1 PharmGKB pathway for NFATC2 Gene
13 GeneGo (Thomson Reuters) pathways for NFATC2 Gene
  • Apoptosis and survival APRIL and BAFF signaling
  • Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis
  • Immune response BCR pathway
  • Immune response CD16 signaling in NK cells
  • Immune response CD28 signaling
31 Qiagen pathways for NFATC2 Gene
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • APRIL Pathway
  • BAFF in B-Cell Signaling
  • Calcium Mediated T-Cell Apoptosis
1 Cell Signaling Technology pathway for NFATC2 Gene
1 GeneTex pathway for NFATC2 Gene

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 by RNA polymerase II IEA --
GO:0001816 cytokine production IBA 21873635
GO:0006355 regulation of transcription, DNA-templated TAS 8668213
GO:0006974 cellular response to DNA damage stimulus IMP 17875758
GO:0010628 positive regulation of gene expression 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, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7884
asparaginase Pharma 257
NFAT Inhibitor Pharma NFAT inhibitor 0

(1) Additional Compounds for NFATC2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(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

Drug Products

Transcripts for NFATC2 Gene

mRNA/cDNA for NFATC2 Gene

8 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone 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

Expression for NFATC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for NFATC2 Gene



Protein tissue co-expression partners for NFATC2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(2.2)
genes like me logo Genes that share expression patterns with NFATC2: view

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 31 30
  • 99.57 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NFATC2 31 30
  • 91.8 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NFATC2 31 30
  • 89.65 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nfatc2 17 31 30
  • 87.14 (n)
rat
(Rattus norvegicus)
Mammalia Nfatc2 30
  • 86.7 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NFATC2 31
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NFATC2 31
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves NFATC2 31 30
  • 73.87 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NFATC2 31
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nfatc2 30
  • 69.66 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100333254 30
  • 59.19 (n)
NFATC2 (1 of 2) 31
  • 54 (a)
OneToMany
CABZ01041608.1 31
  • 47 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta NFAT 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NFATC2: view image

Paralogs for NFATC2 Gene

Paralogs for NFATC2 Gene

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

  • NFAC2_HUMAN
  • B5B2P0_HUMAN
  • B5B2P2_HUMAN
  • B5B2P3_HUMAN
  • B5B2P4_HUMAN
genes like me logo Genes that share paralogs with NFATC2: view

Variants for NFATC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NFATC2 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
715837 Benign: not provided 51,516,892(-) G/A SYNONYMOUS_VARIANT
739069 Likely Benign: not provided 51,432,722(-) A/G SYNONYMOUS_VARIANT
740884 Likely Benign: not provided 51,523,482(-) C/T SYNONYMOUS_VARIANT
744391 Likely Benign: not provided 51,475,540(-) T/A MISSENSE_VARIANT
751012 Likely Benign: not provided 51,523,110(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for NFATC2 Gene

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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
leukostasis
crouzon syndrome with acanthosis nigricans
  • can
t-cell leukemia
  • leukemia, t-cell, chronic
ewing sarcoma
  • es
oral hairy leukoplakia
  • hairy leukoplakia
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NFATC2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 23 54
  2. Recombinant NFAT1 (NFATp) is regulated by calcineurin in T cells and mediates transcription of several cytokine genes. (PMID: 8668213) Luo C … Rao A (Molecular and cellular biology 1996) 3 4 23 54
  3. Calcineurin Undergoes a Conformational Switch Evoked via Peptidyl-Prolyl Isomerization. (PMID: 26248042) Guasch A … Fita I (PloS one 2015) 3 4 54
  4. Structure of a domain-swapped FOXP3 dimer on DNA and its function in regulatory T cells. (PMID: 21458306) Bandukwala HS … Chen L (Immunity 2011) 3 4 54
  5. NFAT promotes carcinoma invasive migration through glypican-6. (PMID: 21871017) Yiu GK … Toker A (The Biochemical journal 2011) 3 4 54

Products for NFATC2 Gene

  • Biorbyt antibodies for NFATC2
  • Signalway ELISA kits for NFATC2