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GeneE
26 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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NFAT5
nuclear factor of activated T cells 5
Chromosome 16 · 16q22.1
NCBI Gene: 10725Ensembl: ENSG00000102908.24HGNC: HGNC:7774UniProt: O94916
172PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase II cis-regulatory region sequence-specific DNA bindingDNA-binding transcription activator activity, RNA polymerase II-specificchromatin bindingprotein bindingtype 2 diabetes mellitusdiabetes mellitusAbnormality of the skeletal systemperipheral vascular disease
✦AI Summary

NFAT5 is a transcription factor that functions as a master regulator of cellular responses to osmotic stress and inflammatory signals. Primarily, NFAT5 mediates transcriptional responses to hypertonicity by binding specific DNA consensus sequences 12 and regulates expression of osmoprotective genes. Beyond osmotic regulation, NFAT5 plays diverse pathophysiological roles. In the central nervous system, NFAT5 controls astrocyte swelling through regulation of aquaporin-4 expression via the AURKB-NFAT5-AQP4 pathway, with implications for neuropathic pain management 3. NFAT5 also modulates immune responses: high-salt conditions activate NFAT5 via p38/MAPK signaling to promote pathogenic TH17 cell differentiation, contributing to autoimmune disease severity 4. In CD8+ T cells, NFAT5 promotes tumor-specific exhaustion in response to hyperosmolar tumor microenvironments, reducing anti-tumor immunity 5. Additionally, NFAT5 coordinates with HIF1A to enhance macrophage antibacterial autophagy under high-sodium conditions 6. In disease contexts, NFAT5 participates in dry eye disease pathogenesis through IL-20 upregulation 7, cerebral amyloid angiopathy via dysregulated calcineurin-NFAT signaling 8, and glioblastoma drug resistance through lysine methylation-dependent MGMT upregulation 9. These findings establish NFAT5 as a critical hub integrating osmotic, inflammatory, and pathogenic signals across multiple tissues.

Sources cited
1
NFAT5 binds specific DNA consensus sequences
PMID: 10377394
2
NFAT5 mediates transcriptional response to hypertonicity
PMID: 10051678
3
NFAT5 regulates astrocyte swelling through AQP4 via AURKB-NFAT5-AQP4 pathway in neuropathic pain
PMID: 38195869
4
High-salt conditions activate NFAT5 via p38/MAPK to promote pathogenic TH17 cell differentiation
PMID: 23467095
5
NFAT5 promotes CD8+ T cell exhaustion in tumor microenvironments under hyperosmolar conditions
PMID: 37709986
6
NFAT5 coordinates with HIF1A to enhance macrophage antibacterial autophagy under high-sodium conditions
PMID: 30982460
7
NFAT5 activation induces IL-20 expression in dry eye disease pathogenesis
PMID: 35681232
8
Dysregulated calcineurin-NFAT signaling in pericytes mediates APOE4-associated cerebral amyloid angiopathy
PMID: 32514169
9
NFAT5 lysine methylation at K668 stabilizes the protein and increases MGMT expression, causing glioblastoma drug resistance
PMID: 37429858
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.49Moderate
diabetes mellitusOpen Targets
0.47Moderate
Abnormality of the skeletal systemOpen Targets
0.39Weak
peripheral vascular diseaseOpen Targets
0.38Weak
smoking initiationOpen Targets
0.36Weak
coronary artery diseaseOpen Targets
0.35Weak
goutOpen Targets
0.35Weak
chronic kidney diseaseOpen Targets
0.34Weak
hyperuricemiaOpen Targets
0.34Weak
metabolic syndromeOpen Targets
0.31Weak
hypertensionOpen Targets
0.30Weak
coronary atherosclerosisOpen Targets
0.28Weak
cesarean sectionOpen Targets
0.27Weak
heart failureOpen Targets
0.27Weak
essential hypertensionOpen Targets
0.26Weak
nicotine dependenceOpen Targets
0.24Weak
diabetic neuropathyOpen Targets
0.24Weak
Myocardial IschemiaOpen Targets
0.21Weak
peripheral arterial diseaseOpen Targets
0.21Weak
shortness of breathOpen Targets
0.21Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FOSProtein interaction100%AKR1B1Protein interaction79%SLC5A3Protein interaction79%SLC6A12Protein interaction79%VEGFCProtein interaction76%POLR2J3Shared pathway18%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
61%
Lung
57%
Ovary
51%
Heart
32%
Liver
30%
Gene Interaction Network
Click a node to explore
NFAT5FOSAKR1B1SLC5A3SLC6A12VEGFCPOLR2J3
PROTEIN STRUCTURE
Preparing viewer…
PDB1IMH · 2.86 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.23Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.17 [0.12–0.23]
RankingsWhere NFAT5 stands among ~20K protein-coding genes
  • #2,567of 20,598
    Most Researched172 · top quartile
  • #666of 17,882
    Most Constrained (LOEUF)0.23 · top 5%
Genes detectedNFAT5
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
Inhibition of NFAT5-Dependent Astrocyte Swelling Alleviates Neuropathic Pain.
PMID: 38195869
Adv Sci (Weinh) · 2024
1.00
2
Activation of the transcription factor NFAT5 in the tumor microenvironment enforces CD8
PMID: 37709986
Nat Immunol · 2023
0.90
3
Sodium chloride drives autoimmune disease by the induction of pathogenic TH17 cells.
PMID: 23467095
Nature · 2013
0.80
4
CREB1/CRTC2 regulated tubular epithelial-derived exosomal miR-93-3p promotes kidney injury induced by calcium oxalate via activating M1 polarization and macrophage extracellular trap formation.
PMID: 40069788
J Nanobiotechnology · 2025
0.76
5
Reconstruction of the human blood-brain barrier in vitro reveals a pathogenic mechanism of APOE4 in pericytes.
PMID: 32514169
Nat Med · 2020
0.70