HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
26 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NFATC1
nuclear factor of activated T cells 1
Chromosome 18 · 18q23
NCBI Gene: 4772Ensembl: ENSG00000131196.18HGNC: HGNC:7775UniProt: A8K9C6
286PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription Factor
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
intracellular signal transductionsequence-specific double-stranded DNA bindingnucleusnuclear bodyosteoarthritis, hipatrial fibrillationhypothyroidismchronic kidney disease
✦AI Summary

NFATC1 is a transcription factor that plays central roles in immune cell activation and bone remodeling. In T cells, NFATC1 drives inducible expression of cytokine genes, particularly IL-2 and IL-4, and regulates T cell activation, proliferation, differentiation, and apoptosis 1. NFATC1 functions through the calcineurin-NFAT signaling cascade, where calcium-dependent phosphatase calcineurin dephosphorylates and activates NFATC1 for nuclear translocation and DNA binding 2. In osteoclasts, NFATC1 is the master regulator of osteoclastogenesis downstream of RANKL signaling. RANKL-responsive superenhancers and their associated enhancer RNAs regulate NFATc1 expression, which is essential for osteoclast differentiation 3. The long noncoding RNA MALAT1 suppresses osteoclastogenesis by blocking Tead3 protein from activating NFATc1 4. Reduced NFATC1 expression correlates with osteochondroma formation, suggesting NFAT signaling suppresses certain bone tumor development 5. Beyond bone and immune cells, NFATC1 regulates pathological processes including chemokine expression in colon cancer cells via CXCL8, promoting neutrophil recruitment 6, and controls P2X7 receptor expression in intervertebral disc degeneration 7. NFATC1 gene fusions with EWSR1 or FUS define a distinct class of vascular neoplasms with potential for local recurrence 8.

Sources cited
1
NFATC1 regulates activation, proliferation, differentiation and programmed death of T-lymphocytes and lymphoid/non-lymphoid cells
PMID: 10358178
2
RANKL-responsive superenhancers and enhancer RNAs regulate NFATc1 expression, which is critical for osteoclast differentiation
PMID: 36513810
3
MALAT1 suppresses osteoclastogenesis by blocking Tead3 from activating Nfatc1, a master regulator of osteoclastogenesis
PMID: 38493144
4
NFATC1 expression is reduced in human osteochondromas, suggesting NFAT signaling suppresses osteochondromagenesis
PMID: 36747924
5
NFATc1 downstream of TCR/calcineurin signaling suppresses IL-15-induced bystander CD8+ T cell activation by limiting AP-1 activity
PMID: 41175877
6
SKAP1 increases CXCL8 expression in colon cancer cells via NFATc1, promoting neutrophil extracellular trap formation
PMID: 39269257
7
NFATc1 positively regulates P2X7 receptor expression and forms a molecular complex with P2X7R in intervertebral disc degeneration
PMID: 38638530
8
EWSR1/FUS::NFATC1/2 gene fusions define a distinct class of vascular neoplasms with potential for local recurrence
PMID: 38189436
Disease Associationsⓘ20
osteoarthritis, hipOpen Targets
0.54Moderate
atrial fibrillationOpen Targets
0.54Moderate
hypothyroidismOpen Targets
0.52Moderate
chronic kidney diseaseOpen Targets
0.52Moderate
Abnormality of the skeletal systemOpen Targets
0.51Moderate
kidney failureOpen Targets
0.51Moderate
neurodegenerative diseaseOpen Targets
0.48Moderate
osteoarthritis, kneeOpen Targets
0.43Moderate
total hip arthroplastyOpen Targets
0.43Moderate
myxedemaOpen Targets
0.42Moderate
Varicose veinsOpen Targets
0.42Moderate
thyroid diseaseOpen Targets
0.41Moderate
medical procedureOpen Targets
0.37Weak
rheumatoid arthritisOpen Targets
0.37Weak
type 2 diabetes mellitusOpen Targets
0.36Weak
osteoarthritisOpen Targets
0.36Weak
Abnormality of refractionOpen Targets
0.36Weak
hyperuricemiaOpen Targets
0.35Weak
vein disorderOpen Targets
0.34Weak
lymphatic system diseaseOpen Targets
0.34Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RELProtein interaction100%PPP3CCProtein interaction100%PPP3CBProtein interaction100%PPP3CAProtein interaction100%RCAN1Protein interaction100%JUNProtein interaction100%
Tissue Expression6 tissues
Lung
100%
Heart
58%
Ovary
43%
Brain
22%
Bone Marrow
21%
Liver
16%
Gene Interaction Network
Click a node to explore
NFATC1RELPPP3CCPPP3CBPPP3CARCAN1JUN
PROTEIN STRUCTURE
Preparing viewer…
PDB5SVE · 2.60 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.46Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.33 [0.23–0.46]
RankingsWhere NFATC1 stands among ~20K protein-coding genes
  • #1,259of 20,598
    Most Researched286 · top 10%
  • #2,604of 17,882
    Most Constrained (LOEUF)0.46 · top quartile
Genes detectedNFATC1
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
RANKL-responsive epigenetic mechanism reprograms macrophages into bone-resorbing osteoclasts.
PMID: 36513810
Cell Mol Immunol · 2023
1.00
2
Long noncoding RNA Malat1 protects against osteoporosis and bone metastasis.
PMID: 38493144
Nat Commun · 2024
0.90
3
NFATC1 and NFATC2 expression patterns in human osteochondromas.
PMID: 36747924
Heliyon · 2023
0.80
4
Vascular Neoplasms With NFATC1/C2 Gene Alterations : Expanding the Clinicopathologic and Molecular Characteristics of a Distinct Entity.
PMID: 38189436
Am J Surg Pathol · 2024
0.70
5
An NFATc1/SMAD3/cJUN Complex Restricted to SMAD4-Deficient Pancreatic Cancer Guides Rational Therapies.
PMID: 37913894
Gastroenterology · 2024
0.68