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Aliases for NFAT5 Gene

Aliases for NFAT5 Gene

  • Nuclear Factor Of Activated T-Cells 5, Tonicity-Responsive 2 3 5
  • Tonicity-Responsive Enhancer-Binding Protein 3 4
  • T-Cell Transcription Factor NFAT5 3 4
  • TonE-Binding Protein 3 4
  • NF-AT5 3 4
  • TONEBP 3 4
  • Osmotic Response Element-Binding Protein 3
  • Glutamine Rich Protein H65 3
  • NFAT-Like Protein 1 3
  • EC 3.6.3.14 63
  • KIAA0827 4
  • EC 3.6.1 63
  • NFATL1 3
  • NFATZ 3
  • OREBP 3

External Ids for NFAT5 Gene

Previous GeneCards Identifiers for NFAT5 Gene

  • GC16P060284
  • GC16P069977
  • GC16P069334
  • GC16P069375
  • GC16P068156
  • GC16P055477

Summaries for NFAT5 Gene

Entrez Gene Summary for NFAT5 Gene

  • The product of this gene is a member of the nuclear factors of activated T cells family of transcription factors. Proteins belonging to this family play a central role in inducible gene transcription during the immune response. This protein regulates gene expression induced by osmotic stress in mammalian cells. Unlike monomeric members of this protein family, this protein exists as a homodimer and forms stable dimers with DNA elements. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for NFAT5 Gene

NFAT5 (Nuclear Factor Of Activated T-Cells 5, Tonicity-Responsive) is a Protein Coding gene. Diseases associated with NFAT5 include Spinocerebellar Ataxia 4. Among its related pathways are TCR Signaling (Qiagen) and GPCR Pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding. An important paralog of this gene is NFATC4.

UniProtKB/Swiss-Prot for NFAT5 Gene

  • Transcription factor involved in the transcriptional regulation of osmoprotective and inflammatory genes. Regulates hypertonicity-induced cellular accumulation of osmolytes.

Gene Wiki entry for NFAT5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NFAT5 Gene

Genomics for NFAT5 Gene

Regulatory Elements for NFAT5 Gene

Enhancers for NFAT5 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NFAT5 on UCSC Golden Path with GeneCards custom track

Promoters for NFAT5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NFAT5 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the NFAT5 gene promoter:

Genomic Location for NFAT5 Gene

Chromosome:
16
Start:
69,565,094 bp from pter
End:
69,704,666 bp from pter
Size:
139,573 bases
Orientation:
Plus strand

Genomic View for NFAT5 Gene

Genes around NFAT5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NFAT5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NFAT5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NFAT5 Gene

Proteins for NFAT5 Gene

  • Protein details for NFAT5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94916-NFAT5_HUMAN
    Recommended name:
    Nuclear factor of activated T-cells 5
    Protein Accession:
    O94916
    Secondary Accessions:
    • A2RRB4
    • A6H8V5
    • E9PHR7
    • O95693
    • Q7LA65
    • Q969Q8
    • Q96QH3
    • Q9UN18

    Protein attributes for NFAT5 Gene

    Size:
    1531 amino acids
    Molecular mass:
    165763 Da
    Quaternary structure:
    • Homodimer when bound to DNA, completely encircles its DNA target. Interacts with CIDEC; this interaction is direct and retains NFAT5 in the cytoplasm (By similarity). Does not bind with Fos and Jun transcription factors.
    SequenceCaution:
    • Sequence=BAA74850.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAB09693.1; Type=Frameshift; Positions=1164; Evidence={ECO:0000305}; Sequence=CAC42765.1; Type=Frameshift; Positions=20; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NFAT5 Gene

    Alternative splice isoforms for NFAT5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NFAT5 Gene

Proteomics data for NFAT5 Gene at MOPED

Selected DME Specific Peptides for NFAT5 Gene

Post-translational modifications for NFAT5 Gene

  • Phosphorylated at Thr-135 by CDK5 in response to osmotic stress; this phosphorylation mediates its rapid nuclear localization.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for NFAT5 Gene

Gene Families for NFAT5 Gene

Suggested Antigen Peptide Sequences for NFAT5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O94916

UniProtKB/Swiss-Prot:

NFAT5_HUMAN :
  • Contains 1 RHD (Rel-like) domain.
Domain:
  • Contains 1 RHD (Rel-like) domain.
genes like me logo Genes that share domains with NFAT5: view

Function for NFAT5 Gene

Molecular function for NFAT5 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor involved in the transcriptional regulation of osmoprotective and inflammatory genes. Regulates hypertonicity-induced cellular accumulation of osmolytes.

Enzyme Numbers (IUBMB) for NFAT5 Gene

Gene Ontology (GO) - Molecular Function for NFAT5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with NFAT5: view
genes like me logo Genes that share phenotypes with NFAT5: view

Animal Models for NFAT5 Gene

MGI Knock Outs for NFAT5:

Animal Model Products

miRNA for NFAT5 Gene

miRTarBase miRNAs that target NFAT5

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NFAT5 Gene

Localization for NFAT5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NFAT5 Gene

Nucleus. Cytoplasm. Note=Nuclear distribution increases under hypertonic conditions. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NFAT5 Gene COMPARTMENTS Subcellular localization image for NFAT5 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2
endoplasmic reticulum 2
extracellular 2
plasma membrane 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for NFAT5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with NFAT5: view

Pathways & Interactions for NFAT5 Gene

genes like me logo Genes that share pathways with NFAT5: view

Pathways by source for NFAT5 Gene

Interacting Proteins for NFAT5 Gene

SIGNOR curated interactions for NFAT5 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for NFAT5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction NAS 10377394
GO:0007588 excretion TAS 10051678
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IDA 11485737
genes like me logo Genes that share ontologies with NFAT5: view

Drugs & Compounds for NFAT5 Gene

(6) Drugs for NFAT5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for NFAT5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NFAT5: view

Transcripts for NFAT5 Gene

Unigene Clusters for NFAT5 Gene

Nuclear factor of activated T-cells 5, tonicity-responsive:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NFAT5 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13
SP1: -
SP2:
SP3: - -
SP4: -
SP5:
SP6:
SP7: -
SP8:

Relevant External Links for NFAT5 Gene

GeneLoc Exon Structure for
NFAT5
ECgene alternative splicing isoforms for
NFAT5

Expression for NFAT5 Gene

mRNA expression in normal human tissues for NFAT5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NFAT5 Gene

This gene is overexpressed in Plasma (27.3), Placenta (22.9), and Retina (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for NFAT5 Gene



SOURCE GeneReport for Unigene cluster for NFAT5 Gene Hs.371987

mRNA Expression by UniProt/SwissProt for NFAT5 Gene

O94916-NFAT5_HUMAN
Tissue specificity: Highest levels in skeletal muscle, brain, heart and peripheral blood leukocytes. Also expressed in placenta, lung, liver, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine and colon.
genes like me logo Genes that share expression patterns with NFAT5: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for NFAT5 Gene

Orthologs for NFAT5 Gene

This gene was present in the common ancestor of animals.

Orthologs for NFAT5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NFAT5 35
  • 93.62 (n)
  • 95.33 (a)
NFAT5 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NFAT5 35
  • 93.48 (n)
  • 95.21 (a)
NFAT5 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nfat5 35
  • 90.81 (n)
  • 92.62 (a)
Nfat5 16
Nfat5 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NFAT5 35
  • 99.64 (n)
  • 99.8 (a)
NFAT5 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nfat5 35
  • 89.45 (n)
  • 91.36 (a)
oppossum
(Monodelphis domestica)
Mammalia NFAT5 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NFAT5 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves NFAT5 35
  • 80.03 (n)
  • 81.78 (a)
NFAT5 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NFAT5 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nfat5 35
  • 68.92 (n)
  • 66.24 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC555802 35
  • 62.94 (n)
  • 62.69 (a)
wufi46f11 35
nfat5 36
  • 45 (a)
OneToMany
NFAT5 (1 of 2) 36
  • 51 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta NFAT 37
  • 51 (a)
NFAT 36
  • 23 (a)
OneToMany
Species with no ortholog for NFAT5:
  • 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 NFAT5 Gene

ENSEMBL:
Gene Tree for NFAT5 (if available)
TreeFam:
Gene Tree for NFAT5 (if available)

Paralogs for NFAT5 Gene

Paralogs for NFAT5 Gene

(1) SIMAP similar genes for NFAT5 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with NFAT5: view

Variants for NFAT5 Gene

Sequence variations from dbSNP and Humsavar for NFAT5 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs3885612 -- 69,592,184(-) GAAAA(C/T)TGCTT intron-variant
rs3926183 -- 69,596,696(+) CTGGG(C/T)GACAG intron-variant
rs9980 -- 69,703,565(+) TAACT(C/G)GTGAA utr-variant-3-prime
rs33060 -- 69,597,845(+) GCCTC(A/G)GCCTC intron-variant
rs33061 -- 69,599,342(+) gaggc(C/T)gagga intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NFAT5 Gene

Variant ID Type Subtype PubMed ID
nsv1852 CNV Loss 18451855
nsv906822 CNV Gain 21882294
nsv906823 CNV Gain 21882294

Variation tolerance for NFAT5 Gene

Residual Variation Intolerance Score: 1.08% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.88; 35.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NFAT5 Gene

Human Gene Mutation Database (HGMD)
NFAT5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NFAT5 Gene

Disorders for NFAT5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NFAT5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spinocerebellar ataxia 4
  • spinocerebellar ataxia type 4
- elite association - COSMIC cancer census association via MalaCards
Search NFAT5 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NFAT5

Genetic Association Database (GAD)
NFAT5
Human Genome Epidemiology (HuGE) Navigator
NFAT5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NFAT5
genes like me logo Genes that share disorders with NFAT5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NFAT5 Gene

Publications for NFAT5 Gene

  1. NFAT5, a constitutively nuclear NFAT protein that does not cooperate with Fos and Jun. (PMID: 10377394) Lopez-Rodriguez C. … Rao A. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4 23 67
  2. Osmolarity and intracellular calcium regulate aquaporin2 expression through TonEBP in nucleus pulposus cells of the intervertebral disc. (PMID: 19138132) Gajghate S. … Risbud M.V. (J. Bone Miner. Res. 2009) 3 23
  3. Exclusion of NFAT5 from mitotic chromatin resets its nucleo-cytoplasmic distribution in interphase. (PMID: 19750013) Estrada-Gelonch A. … LA^pez-RodrA-guez C. (PLoS ONE 2009) 3 23
  4. Determination of the NFAT5/TonEBP transcription factor in the human and ovine placenta. (PMID: 19886771) Arroyo J.A. … Galan H.L. (Syst Biol Reprod Med 2009) 3 23
  5. Inducible nucleosome depletion at OREBP-binding-sites by hypertonic stress. (PMID: 20041176) Tong E.H. … Ko B.C. (PLoS ONE 2009) 3 23

Products for NFAT5 Gene

Sources for NFAT5 Gene

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