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 th... See more...

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
  • Nuclear Factor Of Activated T-Cells, Cytoplasmic 4 3 4
  • T-Cell Transcription Factor NFAT3 3 4
  • NF-AT3 3 4
  • NFAT3 3 4
  • 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 Crouzon Syndrome With Acanthosis Nigricans and Leukostasis. Among its related pathways are Oxytocin signaling pathway and MicroRNAs in cardiomyocyte hypertrophy. 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 Summary for NFATC4 Gene

  • Ca(2+)-regulated transcription factor that is involved in several processes, including the development and function of the immune, cardiovascular, musculoskeletal, and nervous systems (PubMed:7749981, PubMed:11514544, PubMed:11997522, PubMed:17875713, PubMed:17213202, PubMed:18668201, PubMed:25663301). Involved in T-cell activation, stimulating the transcription of cytokine genes, including that of IL2 and IL4 (PubMed:7749981, PubMed:18668201, PubMed:18347059). Along with NFATC3, involved in embryonic heart development. Involved in mitochondrial energy metabolism required for cardiac morphogenesis and function (By similarity). Transactivates many genes involved in the cardiovascular system, including AGTR2, NPPB/BNP (in synergy with GATA4), NPPA/ANP/ANF and MYH7/beta-MHC (By similarity). Involved in the regulation of adult hippocampal neurogenesis. Involved in BDNF-driven pro-survival signaling in hippocampal adult-born neurons. Involved in the formation of long-term spatial memory and long-term potentiation (By similarity). In cochlear nucleus neurons, may play a role in deafferentation-induced apoptosis during the developmental critical period, when auditory neurons depend on afferent input for survival (By similarity). Binds to and activates the BACE1/Beta-secretase 1 promoter, hence may regulate the proteolytic processing of the amyloid precursor protein (APP) (PubMed:25663301). Plays a role in adipocyte differentiation (PubMed:11997522). May be involved in myoblast differentiation into myotubes (PubMed:17213202). Binds the consensus DNA sequence 5'-GGAAAAT-3' (Probable). In the presence of CREBBP, activates TNF transcription (PubMed:11514544). Binds to PPARG gene promoter and regulates its activity (PubMed:11997522). Binds to PPARG and REG3G gene promoters (By similarity).

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 , Rfam classification and piRNA Summary for NFATC4 Gene

Genomics for NFATC4 Gene

GeneHancer (GH) Regulatory Elements for NFATC4 Gene

Promoters and enhancers for NFATC4 Gene
- 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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NFATC4

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 NFAT proteins, such as NFATC3, or members of the activating protein-1 (AP-1) family and MAF can also bind the complex. NFAT proteins can bind DNA as monomers or dimers (PubMed:7749981). Interacts with CREBBP; this interaction potentiates transcription activation (PubMed:11514544). Interacts with MAPK8/JNK1 and MAPK9/JNK2 (PubMed:17875713). Interacts with GATA4 (via the second Zn finger) (By similarity). Interacts (via N-terminus) with IRAK1 (via C-terminus) (PubMed:18691762). Interacts with RPS6KA3 (PubMed:17213202). Interacts with HOMER1, HOMER2 and HOMER3; this interaction competes with calcineurin/PPP3CA-binding and hence prevents NFATC4 dephosphorylation and activation (PubMed:18218901). Interacts with ESR1 and ESR2; this interaction decreases NFATC4 transcriptional activity (PubMed:18668201). Interacts with MTOR and MAPK7/ERK5 (PubMed:18347059).
    Miscellaneous:
    • [Isoform 3]: Due to an intron retention.
    • [Isoform 5]: Due to an intron retention.
    • [Isoform 7]: Due to an intron retention.
    • [Isoform 8]: Due to an intron retention.
    • [Isoform 10]: Due to an intron retention.
    • [Isoform 12]: Due to an intron retention.
    • [Isoform 13]: Due to an intron retention.
    • [Isoform 18]: Due to an intron retention.
    • [Isoform 20]: Due to an intron retention.
    • [Isoform 23]: Due to an intron retention.

    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/PPP3CA. Phosphorylated on Ser-168 and Ser-170 by MTOR, IRAK1, MAPK7/ERK5 and MAPK14/p38, on Ser-213 and Ser-217 by MAPK8/JNK1 and MAPK9/JNK2, and on Ser-289 and Ser-344 by RPS6KA3 (PubMed:11997522, PubMed:17875713, PubMed:17213202, PubMed:18347059). Phosphorylated by GSK3B (PubMed:18347059). Phosphorylation by GSK3B markedly increases NFATC4 ubiquitination (By similarity). Phosphorylation at Ser-168 and Ser-170 is stimulated by UV irradiation (PubMed:18347059). Phosphorylation determines subcellular location: the hyperphosphorylated protein is cytosolic, while the dephosphorylated form is targeted to the nucleus.
  • Ubiquitinated, leading to degradation by the proteasome. Ubiquitination may be stimulated by GSK3B-dependent phosphorylation. Polyubiquitin linkage mainly occurs through 'Lys-48'.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for NFATC4

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

Protein Domains for NFATC4 Gene

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

Suggested Antigen Peptide Sequences for NFATC4 Gene

GenScript: Design optimal peptide antigens:
  • T-cell transcription factor NFAT3 (NFAC4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14934

UniProtKB/Swiss-Prot:

NFAC4_HUMAN :
  • Rel similarity domain (RSD) or Rel homology domain (RHD) allows DNA-binding and cooperative interactions with AP-1 factors.
Domain:
  • Rel similarity domain (RSD) or Rel homology domain (RHD) allows DNA-binding and cooperative interactions with AP-1 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:
Ca(2+)-regulated transcription factor that is involved in several processes, including the development and function of the immune, cardiovascular, musculoskeletal, and nervous systems (PubMed:7749981, PubMed:11514544, PubMed:11997522, PubMed:17875713, PubMed:17213202, PubMed:18668201, PubMed:25663301). Involved in T-cell activation, stimulating the transcription of cytokine genes, including that of IL2 and IL4 (PubMed:7749981, PubMed:18668201, PubMed:18347059). Along with NFATC3, involved in embryonic heart development. Involved in mitochondrial energy metabolism required for cardiac morphogenesis and function (By similarity). Transactivates many genes involved in the cardiovascular system, including AGTR2, NPPB/BNP (in synergy with GATA4), NPPA/ANP/ANF and MYH7/beta-MHC (By similarity). Involved in the regulation of adult hippocampal neurogenesis. Involved in BDNF-driven pro-survival signaling in hippocampal adult-born neurons. Involved in the formation of long-term spatial memory and long-term potentiation (By similarity). In cochlear nucleus neurons, may play a role in deafferentation-induced apoptosis during the developmental critical period, when auditory neurons depend on afferent input for survival (By similarity). Binds to and activates the BACE1/Beta-secretase 1 promoter, hence may regulate the proteolytic processing of the amyloid precursor protein (APP) (PubMed:25663301). Plays a role in adipocyte differentiation (PubMed:11997522). May be involved in myoblast differentiation into myotubes (PubMed:17213202). Binds the consensus DNA sequence 5'-GGAAAAT-3' (Probable). In the presence of CREBBP, activates TNF transcription (PubMed:11514544). Binds to PPARG gene promoter and regulates its activity (PubMed:11997522). Binds to PPARG and REG3G gene promoters (By similarity).
UniProtKB/Swiss-Prot EnzymeRegulation:
Transcriptional activity may be repressed by ESR1 and ESR2.

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 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 IGI 23543060
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IBA 21873635
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, cytosol. Nucleus. Note=When hyperphosphorylated, localizes in the cytosol. When intracellular Ca(2+) levels increase, dephosphorylation by calcineurin/PPP3CA leads to translocation into the nucleus (PubMed:11997522, PubMed:18347059). MAPK7/ERK5 and MTOR regulate NFATC4 nuclear export through phosphorylation at Ser-168 and Ser-170 (PubMed:18347059). {ECO:0000269 PubMed:11997522, ECO:0000269 PubMed:18347059}.

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
plasma membrane 2
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)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NFATC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IDA 12370307
GO:0005667 transcription factor complex IBA 21873635
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IBA,IDA --
genes like me logo Genes that share ontologies with NFATC4: view

Pathways & Interactions for NFATC4 Gene

PathCards logo

SuperPathways for NFATC4 Gene

SuperPathway Contained pathways
1 Activation of cAMP-Dependent PKA
.77
.77
.71
.56
2 TCR Signaling (Qiagen)
.68
.68
.54
.49
3 Human cytomegalovirus infection
4 RANK Signaling in Osteoclasts
.92
.92
.45
5 NFAT and Cardiac Hypertrophy
.42
.42
.37
genes like me logo Genes that share pathways with NFATC4: view

Pathways by source for NFATC4 Gene

1 PharmGKB pathway for NFATC4 Gene
5 GeneGo (Thomson Reuters) pathways for NFATC4 Gene
  • Immune response CD28 signaling
  • Immune response Fc epsilon RI pathway
  • Immune response NFAT in immune response
  • Immune response T cell receptor signaling pathway
  • Signal transduction Activation of PKC via G-Protein coupled receptor
30 Qiagen pathways for NFATC4 Gene
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • APRIL Pathway
  • BAFF in B-Cell Signaling
  • cAMP Pathway
1 Cell Signaling Technology pathway for NFATC4 Gene

SIGNOR curated interactions for NFATC4 Gene

Is activated by:
Is inactivated 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 21873635
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II TAS 7749981
GO:0006954 inflammatory response 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 7884
genes like me logo Genes that share compounds with NFATC4: view

Transcripts for NFATC4 Gene

mRNA/cDNA for NFATC4 Gene

9 REFSEQ mRNAs :
42 NCBI additional mRNA sequence :
33 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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

Expression for NFATC4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NFATC4

SOURCE GeneReport for Unigene cluster for NFATC4 Gene:

Hs.77810

mRNA Expression by UniProt/SwissProt for NFATC4 Gene:

Q14934-NFAC4_HUMAN
Tissue specificity: Widely expressed, with high levels in placenta, lung, kidney, testis and ovary (PubMed:18675896). Weakly expressed in spleen and thymus (PubMed:18675896). In the hippocampus, expressed in the granular layer of the dentate gyrus, in the pyramidal neurons of CA3 region, and in the hippocampal fissure (PubMed:18675896). Expressed in the heart (at protein level) (PubMed:12370307).

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 31 30
  • 98.73 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NFATC4 31
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NFATC4 31 30
  • 90.46 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nfatc4 17 31 30
  • 87.47 (n)
rat
(Rattus norvegicus)
Mammalia Nfatc4 30
  • 87.21 (n)
oppossum
(Monodelphis domestica)
Mammalia NFATC4 31
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 21 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia NFATC4 31
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nfatc4 30
  • 58.9 (n)
zebrafish
(Danio rerio)
Actinopterygii nfatc4 30
  • 57.93 (n)
NFATC4 31
  • 45 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta NFAT 31
  • 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NFATC4 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
749703 Likely Benign: not provided 24,369,734(+) G/A SYNONYMOUS_VARIANT
778738 Benign: not provided 24,369,722(+) C/T SYNONYMOUS_VARIANT
rs2228231 - p.Ser246Asn
rs2229309 - p.Gly160Ala
rs7149586 - p.Ser800Pro

Additional dbSNP identifiers (rs#s) for NFATC4 Gene

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

(4) MalaCards diseases for NFATC4 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
crouzon syndrome with acanthosis nigricans
  • can
leukostasis
leopard syndrome
  • lentiginosis profusa
dilated cardiomyopathy
  • cardiomyopathy, familial idiopathic
- 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 23 54
  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 23 41 54
  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 54
  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 41 54
  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 41 54

Products for NFATC4 Gene