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Aliases for NFATC4 Gene

Aliases for NFATC4 Gene

  • Nuclear Factor Of Activated T Cells 4 2 3 5
  • Nuclear Factor Of Activated T-Cells, Cytoplasmic, Calcineurin-Dependent 4 2 3
  • T-Cell Transcription Factor NFAT3 3 4
  • NF-AT3 3 4
  • NFAT3 3 4
  • Nuclear Factor Of Activated T-Cells, Cytoplasmic 4 3
  • Nuclear Factor Of Activated T-Cells 4 2
  • NF-ATC4 3
  • NF-ATc4 4
  • NFATc4 4

External Ids for NFATC4 Gene

Previous GeneCards Identifiers for NFATC4 Gene

  • GC14P022209
  • GC14P018624
  • GC14P022827
  • GC14P023907
  • GC14P024834
  • GC14P004950

Summaries for NFATC4 Gene

Entrez Gene Summary for NFATC4 Gene

  • This gene encodes a member of the nuclear factor of activated T cells (NFAT) protein family. The encoded protein is part of a DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor stimulation and an inducible nuclear component. NFAT proteins are activated by the calmodulin-dependent phosphatase, calcineurin. The encoded protein plays a role in the inducible expression of cytokine genes in T cells, especially in the induction of interleukin-2 and interleukin-4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

GeneCards Summary for NFATC4 Gene

NFATC4 (Nuclear Factor Of Activated T Cells 4) is a Protein Coding gene. Diseases associated with NFATC4 include Leukostasis and Andersen Cardiodysrhythmic Periodic Paralysis. Among its related pathways are GPCR Pathway and HTLV-I infection. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and transcription coactivator activity. An important paralog of this gene is NFATC3.

UniProtKB/Swiss-Prot for NFATC4 Gene

  • Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2 and IL-4. Transcriptionally repressed by estrogen receptors; this inhibition is further enhanced by estrogen. Increases the transcriptional activity of PPARG and has a direct role in adipocyte differentiation. May play an important role in myotube differentiation. May play a critical role in cardiac development and hypertrophy. May play a role in deafferentation-induced apoptosis of sensory neurons.

Tocris Summary for NFATC4 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 NFATC4 Gene

Additional gene information for NFATC4 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NFATC4 Gene

Genomics for NFATC4 Gene

GeneHancer (GH) Regulatory Elements for NFATC4 Gene

Promoters and enhancers for NFATC4 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
GH14J024364 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +2.3 2333 6.1 HDGF PKNOX1 MLX ARID4B NEUROD1 SIN3A DMAP1 YBX1 ZNF2 ZBTB7B NFATC4 KHNYN ADCY4 SDR39U1 RNA5SP383 RIPK3 RNF31 TINF2 TM9SF1 CIDEB
GH14J024139 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 40.1 -224.7 -224677 3.7 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF213 ZNF143 SP3 NFYC SSRP1 EMC9 ENSG00000259321 NFATC4 IPO4 THTPA TSSK4 NGDN RNF31 HOMEZ LOC102724814
GH14J024187 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 36.3 -177.4 -177363 2.6 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 IPO4 NGDN RNF31 KHNYN RNA5SP383 LOC102724814 NFATC4 CIDEB TM9SF1 TINF2
GH14J024113 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 32.1 -250.8 -250833 3.1 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 ZNF143 SP3 NRL DCAF11 RNF31 KHNYN RNA5SP383 IPO4 TM9SF1 TINF2 TSSK4 NFATC4
GH14J024091 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 21.9 -272.0 -272026 6.5 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 ZNF548 SP3 PCK2 ACIN1 RNA5SP383 IPO4 KHNYN RNF31 NGDN TINF2 TM9SF1 NYNRIN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NFATC4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NFATC4 gene promoter:
  • AML1a
  • Nkx2-5

Genomic Locations for NFATC4 Gene

Genomic Locations for NFATC4 Gene
chr14:24,365,673-24,379,604
(GRCh38/hg38)
Size:
13,932 bases
Orientation:
Plus strand
chr14:24,834,879-24,848,810
(GRCh37/hg19)
Size:
13,932 bases
Orientation:
Plus strand

Genomic View for NFATC4 Gene

Genes around NFATC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NFATC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NFATC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NFATC4 Gene

Proteins for NFATC4 Gene

  • Protein details for NFATC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14934-NFAC4_HUMAN
    Recommended name:
    Nuclear factor of activated T-cells, cytoplasmic 4
    Protein Accession:
    Q14934
    Secondary Accessions:
    • B4DDG5
    • B4DY55
    • B5B2U7
    • B5B2U8
    • B5B2U9
    • B5B2V0
    • B5B2V1
    • B5B2V2
    • B5B2V3
    • B5B2V4
    • B5B2V5
    • B5B2V7
    • B5B2V8
    • B5B2V9
    • B5B2W0
    • B5B2W1
    • B5B2W2
    • B5B2W3
    • B5B2W4
    • B5B2W5
    • B5B2W6
    • B5B2W7
    • B5B2W8
    • B5B2W9
    • B5B2X0
    • Q7Z598
    • Q96H68

    Protein attributes for NFATC4 Gene

    Size:
    902 amino acids
    Molecular mass:
    95449 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. NFATC proteins bind to DNA as monomers. Interacts with CREBBP, GATA4, IRAK1, MAPK8, MAPK9 and RPS6KA3.

    Three dimensional structures from OCA and Proteopedia for NFATC4 Gene

neXtProt entry for NFATC4 Gene

Post-translational modifications for NFATC4 Gene

  • Phosphorylated by NFATC-kinases; dephosphorylated by calcineurin. Phosphorylated on Ser-168 and Ser-170 by MTOR, IRAK1, MAPK7 and MAPK14, on Ser-213 and Ser-217 by MAPK8 and MAPK9, and on Ser-289 and Ser-344 by RPS6KA3. Phosphorylated by GSK3B.
  • Ubiquitinated, leading to its degradation by the proteasome and reduced transcriptional activity. Ubiquitination and reduction in transcriptional activity can be further facilitated through GSK3B-dependent phosphorylation. Polyubiquitin linkage is mainly through Lys-48.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NFATC4 Gene

Domains & Families for NFATC4 Gene

Gene Families for NFATC4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for NFATC4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14934

UniProtKB/Swiss-Prot:

NFAC4_HUMAN :
  • Rel Similarity Domain (RSD) allows DNA-binding and cooperative interactions with AP1 factors.
Domain:
  • Rel Similarity Domain (RSD) allows DNA-binding and cooperative interactions with AP1 factors.
genes like me logo Genes that share domains with NFATC4: view

Function for NFATC4 Gene

Molecular function for NFATC4 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 and IL-4. Transcriptionally repressed by estrogen receptors; this inhibition is further enhanced by estrogen. Increases the transcriptional activity of PPARG and has a direct role in adipocyte differentiation. May play an important role in myotube differentiation. May play a critical role in cardiac development and hypertrophy. May play a role in deafferentation-induced apoptosis of sensory neurons.

Phenotypes From GWAS Catalog for NFATC4 Gene

Gene Ontology (GO) - Molecular Function for NFATC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IGI 23543060
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with NFATC4: view
genes like me logo Genes that share phenotypes with NFATC4: view

Animal Models for NFATC4 Gene

MGI Knock Outs for NFATC4:

Animal Model Products

miRNA for NFATC4 Gene

Transcription Factor Targets for NFATC4 Gene

Selected GeneGlobe predicted Target genes for NFATC4

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and HOMER Transcription for NFATC4 Gene

Localization for NFATC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NFATC4 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 NFATC4 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 3
extracellular 2
mitochondrion 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for NFATC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 12370307
GO:0005667 transcription factor complex IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0016607 nuclear speck IDA --
genes like me logo Genes that share ontologies with NFATC4: view

Pathways & Interactions for NFATC4 Gene

genes like me logo Genes that share pathways with NFATC4: view

SIGNOR curated interactions for NFATC4 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for NFATC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001569 branching involved in blood vessel morphogenesis IEA --
GO:0001816 cytokine production IBA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II TAS 7749981
genes like me logo Genes that share ontologies with NFATC4: view

Drugs & Compounds for NFATC4 Gene

(1) Drugs for NFATC4 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
genes like me logo Genes that share compounds with NFATC4: view

Transcripts for NFATC4 Gene

Unigene Clusters for NFATC4 Gene

Nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NFATC4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a · 11b
SP1: - - -
SP2: - - - -
SP3: - -
SP4: -
SP5: -
SP6:
SP7: - -

Relevant External Links for NFATC4 Gene

GeneLoc Exon Structure for
NFATC4
ECgene alternative splicing isoforms for
NFATC4

Expression for NFATC4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NFATC4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NFATC4 Gene

This gene is overexpressed in Liver, secretome (39.0), Ovary (8.5), and Heart (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NFATC4 Gene



NURSA nuclear receptor signaling pathways regulating expression of NFATC4 Gene:

NFATC4

SOURCE GeneReport for Unigene cluster for NFATC4 Gene:

Hs.77810

mRNA Expression by UniProt/SwissProt for NFATC4 Gene:

Q14934-NFAC4_HUMAN
Tissue specificity: Highly expressed in placenta, lung, kidney, testis and ovary. Weakly expressed in spleen and thymus. Not expressed in peripheral blood lymphocytes. Detected in hippocampus.

Evidence on tissue expression from TISSUES for NFATC4 Gene

  • Blood(4.4)
  • Adrenal gland(4.3)
  • Nervous system(4.3)
  • Heart(2.5)
  • Muscle(2.5)
genes like me logo Genes that share expression patterns with NFATC4: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for NFATC4 Gene

Orthologs for NFATC4 Gene

This gene was present in the common ancestor of animals.

Orthologs for NFATC4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NFATC4 34 33
  • 98.73 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NFATC4 34
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NFATC4 34 33
  • 90.46 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nfatc4 16 34 33
  • 87.47 (n)
rat
(Rattus norvegicus)
Mammalia Nfatc4 33
  • 87.21 (n)
oppossum
(Monodelphis domestica)
Mammalia NFATC4 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 21 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia NFATC4 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nfatc4 33
  • 58.9 (n)
zebrafish
(Danio rerio)
Actinopterygii nfatc4 33
  • 57.93 (n)
NFATC4 34
  • 45 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta NFAT 34
  • 10 (a)
OneToMany
Species where no ortholog for NFATC4 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)
  • chicken (Gallus gallus)
  • 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 NFATC4 Gene

ENSEMBL:
Gene Tree for NFATC4 (if available)
TreeFam:
Gene Tree for NFATC4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NFATC4: view image

Paralogs for NFATC4 Gene

Paralogs for NFATC4 Gene

(1) SIMAP similar genes for NFATC4 Gene using alignment to 5 proteins:

  • NFAC4_HUMAN
  • G3V4K1_HUMAN
  • G3V4U6_HUMAN
  • G3V5H0_HUMAN
  • L0R8A8_HUMAN
genes like me logo Genes that share paralogs with NFATC4: view

Variants for NFATC4 Gene

Sequence variations from dbSNP and Humsavar for NFATC4 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000253041 -- 24,368,641(+) T/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000379032 -- 24,379,515(+) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000471337 -- 24,366,960(+) G/C 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1000958576 -- 24,371,527(+) G/C intron_variant
rs1001115771 -- 24,378,111(+) T/C 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for NFATC4 Gene

Variant ID Type Subtype PubMed ID
nsv952819 CNV deletion 24416366

Variation tolerance for NFATC4 Gene

Residual Variation Intolerance Score: 23.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.46; 95.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NFATC4 Gene

Human Gene Mutation Database (HGMD)
NFATC4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NFATC4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NFATC4 Gene

Disorders for NFATC4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NFATC4 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
leukostasis
andersen cardiodysrhythmic periodic paralysis
  • andersen syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NFATC4

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 NFATC4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NFATC4 Gene

Publications for NFATC4 Gene

  1. Alternative splicing and expression of human and mouse NFAT genes. (PMID: 18675896) Vihma H … Timmusk T (Genomics 2008) 3 4 22 58
  2. Polymorphisms of genes of the cardiac calcineurin pathway and cardiac hypertrophy. (PMID: 12939651) Poirier O … Cambien F (European journal of human genetics : EJHG 2003) 3 22 44 58
  3. Isolation of two new members of the NF-AT gene family and functional characterization of the NF-AT proteins. (PMID: 7749981) Hoey T … Xu X (Immunity 1995) 2 3 4 58
  4. 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 SD … DREAM investigators (Diabetes care 2010) 3 44 58
  5. The combined impact of metabolic gene polymorphisms on elite endurance athlete status and related phenotypes. (PMID: 19653005) Ahmetov II … Rogozkin VA (Human genetics 2009) 3 44 58

Products for NFATC4 Gene

Sources for NFATC4 Gene