NFATC1
gene geneOn this page
Also known as NF-ATCNFATcNFAT2
Summary
NFATC1 (nuclear factor of activated T cells 1, HGNC:7775) is a protein-coding gene on chromosome 18q23, encoding Nuclear factor of activated T-cells, cytoplasmic 1 (O95644). Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2 or IL-4 gene transcription.
The product of this gene is a component of the nuclear factor of activated T cells 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 (TCR) stimulation, and an inducible nuclear component. Proteins belonging to this family of transcription factors play a central role in inducible gene transcription during immune response. The product of this gene is an inducible nuclear component. It functions as a major molecular target for the immunosuppressive drugs such as cyclosporin A. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Different isoforms of this protein may regulate inducible expression of different cytokine genes.
Source: NCBI Gene 4772 — RefSeq curated summary.
At a glance
- Gene–disease (curated): inborn error of immunity (Moderate, GenCC) — +1 more curated relationship
- GWAS associations: 59 (top 1% of genes corpus-wide)
- Clinical variants (ClinVar): 399 total — 2 pathogenic (top 8% of genes corpus-wide)
- GTEx eGene: eQTL in 23 tissues, sQTL in 7 (q < 0.05)
- Constraint (gnomAD): pLI 1.00 (loss-of-function intolerant), LOEUF 0.46 (moderately constrained)
- Transcription factor: yes — 131 downstream targets (CollecTRI)
- MANE Select transcript:
NM_001278669 - Interaction hub: 2,546 STRING partners (top 4% of genes corpus-wide)
- Notable: 399 clinical variants but no curated precision-oncology (CIViC) evidence yet
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7775 |
| Approved symbol | NFATC1 |
| Name | nuclear factor of activated T cells 1 |
| Location | 18q23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NF-ATC, NFATc, NFAT2 |
| Ensembl gene | ENSG00000131196 |
| Ensembl biotype | protein_coding |
| OMIM | 600489 |
| Entrez | 4772 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 12 protein_coding, 4 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay
MANE Select: ENST00000427363
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 11, TSL 2: 4, TSL 3: 3
ENST00000427363, ENST00000253506, ENST00000318065, ENST00000329101, ENST00000397790, ENST00000542384, ENST00000545796, ENST00000586434, ENST00000586695, ENST00000587635, ENST00000590172, ENST00000590224, ENST00000590313, ENST00000590861, ENST00000591065, ENST00000591089, ENST00000591814, ENST00000592223, ENST00001131627
RefSeq mRNA: 10 — MANE Select: NM_001278669
NM_001278669, NM_001278670, NM_001278672, NM_001278673, NM_001278675, NM_006162, NM_172387, NM_172388, NM_172389, NM_172390
CCDS: CCDS12015, CCDS12016, CCDS32850, CCDS59326, CCDS59327, CCDS62467, CCDS62468, CCDS62469, CCDS62470, CCDS62471
Canonical transcript exons
ENST00000427363 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002244819 | 79410403 | 79411501 |
| ENSE00003501017 | 79486248 | 79486937 |
| ENSE00003528490 | 79451676 | 79451816 |
| ENSE00003540654 | 79433579 | 79433738 |
| ENSE00003555962 | 79461311 | 79461366 |
| ENSE00003591555 | 79448782 | 79448984 |
| ENSE00003671704 | 79467450 | 79467582 |
| ENSE00003689358 | 79450954 | 79451126 |
| ENSE00003906826 | 79527528 | 79529323 |
| ENSE00003907537 | 79395930 | 79396351 |
Expression profiles
Bgee: expression breadth ubiquitous, 252 present calls, max score 92.69.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.8498 / max 594.9656, expressed in 1668 samples.
Highest expression (Bgee): oocyte, hindlimb stylopod muscle, secondary oocyte, skeletal muscle tissue of rectus abdominis, triceps brachii.
Genetic regulation across tissues (GTEx eQTL / sQTL)
NFATC1 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 23 tissues and its splicing (sQTL) in 7 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
showing 20 of 30 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Muscle Skeletal | eqtl | 7.5e-52 | -0.36 | 18:79400235:A:C |
| Heart Left Ventricle | eqtl | 5.5e-11 | -0.27 | 18:79400235:A:C |
| Stomach | eqtl | 3.1e-09 | +0.26 | 18:79400367:C:CGCCCCG |
| Whole Blood | eqtl | 9.4e-09 | -0.13 | 18:79400235:A:C |
| Adrenal Gland | eqtl | 2.2e-07 | +1.21 | 18:79401324:G:A |
| Pancreas | eqtl | 6.0e-07 | -0.34 | 18:79400235:A:C |
| Adipose Subcutaneous | eqtl | 6.2e-07 | -0.20 | 18:79400235:A:C |
| Muscle Skeletal | sqtl | 1.5e-06 | +0.30 | 18:79400235:A:C |
| Cells EBV-transformed lymphocytes | sqtl | 3.5e-06 | -0.70 | 18:79461095:T:G |
| Liver | eqtl | 7.0e-06 | -0.50 | 18:79397846:T:C |
| Testis | eqtl | 5.1e-05 | -0.27 | 18:79404056:G:A |
| Cells Cultured fibroblasts | eqtl | 1.7e-04 | +0.17 | 18:79461539:A:G |
| Skin Not Sun Exposed Suprapubic | eqtl | 2.5e-04 | +0.15 | 18:79400367:C:CGCCCCG |
| Testis | sqtl | 2.5e-04 | -0.42 | 18:79504442:C:T |
| Brain Caudate basal ganglia | eqtl | 7.6e-04 | +0.14 | 18:79545852:A:G |
| Thyroid | eqtl | 8.8e-04 | -0.35 | 18:79479775:G:A |
| Breast Mammary Tissue | eqtl | 2.3e-03 | -0.19 | 18:79400235:A:C |
| Skin Sun Exposed Lower leg | eqtl | 2.4e-03 | +0.15 | 18:79400367:C:CGCCCCG |
| Spleen | sqtl | 3.3e-03 | +0.62 | 18:79461094:C:T |
| Brain Putamen basal ganglia | sqtl | 3.3e-03 | +0.51 | 18:78398154:C:A |
FANTOM5 promoters
3 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 170902 | 9.3589 | 1230 |
| 170904 | 7.2027 | 1556 |
| 170903 | 0.2882 | 126 |
Top tissues by expression
showing 100 of 280 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 92.69 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 92.40 | gold quality |
| secondary oocyte | CL:0000655 | 92.39 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 92.08 | gold quality |
| triceps brachii | UBERON:0001509 | 91.62 | gold quality |
| gastrocnemius | UBERON:0001388 | 90.59 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 90.51 | gold quality |
| muscle of leg | UBERON:0001383 | 90.45 | gold quality |
| sural nerve | UBERON:0015488 | 90.11 | gold quality |
| muscle organ | UBERON:0001630 | 90.08 | gold quality |
| gluteal muscle | UBERON:0002000 | 89.73 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 89.56 | gold quality |
| vastus lateralis | UBERON:0001379 | 89.30 | gold quality |
| periodontal ligament | UBERON:0008266 | 89.15 | gold quality |
| biceps brachii | UBERON:0001507 | 89.08 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 89.02 | gold quality |
| quadriceps femoris | UBERON:0001377 | 88.81 | gold quality |
| deltoid | UBERON:0001476 | 87.63 | gold quality |
| lymph node | UBERON:0000029 | 87.26 | gold quality |
| muscle tissue | UBERON:0002385 | 87.13 | gold quality |
| hair follicle | UBERON:0002073 | 87.10 | gold quality |
| tibial nerve | UBERON:0001323 | 86.76 | gold quality |
| sperm | CL:0000019 | 86.51 | gold quality |
| spleen | UBERON:0002106 | 86.46 | gold quality |
| tibia | UBERON:0000979 | 86.15 | gold quality |
| granulocyte | CL:0000094 | 85.82 | gold quality |
| male germ cell | CL:0000015 | 85.32 | gold quality |
| synovial joint | UBERON:0002217 | 85.32 | gold quality |
| tibialis anterior | UBERON:0001385 | 85.15 | silver quality |
| parietal pleura | UBERON:0002400 | 84.81 | gold quality |
| apex of heart | UBERON:0002098 | 84.68 | gold quality |
| gall bladder | UBERON:0002110 | 84.48 | gold quality |
| pleura | UBERON:0000977 | 84.47 | gold quality |
| blood | UBERON:0000178 | 84.46 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 84.40 | gold quality |
| ascending aorta | UBERON:0001496 | 84.19 | gold quality |
| tibial artery | UBERON:0007610 | 84.19 | gold quality |
| popliteal artery | UBERON:0002250 | 84.15 | gold quality |
| aorta | UBERON:0000947 | 84.06 | gold quality |
| thoracic aorta | UBERON:0001515 | 84.03 | gold quality |
| parotid gland | UBERON:0001831 | 83.95 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 83.94 | gold quality |
| leukocyte | CL:0000738 | 83.83 | gold quality |
| right lung | UBERON:0002167 | 83.78 | gold quality |
| right atrium auricular region | UBERON:0006631 | 83.77 | gold quality |
| monocyte | CL:0000576 | 83.59 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.57 | gold quality |
| visceral pleura | UBERON:0002401 | 83.57 | gold quality |
| mononuclear cell | CL:0000842 | 83.41 | gold quality |
| omental fat pad | UBERON:0010414 | 83.21 | gold quality |
| peritoneum | UBERON:0002358 | 83.14 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.05 | gold quality |
| tendon | UBERON:0000043 | 83.04 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 82.90 | gold quality |
| diaphragm | UBERON:0001103 | 82.76 | silver quality |
| cardiac atrium | UBERON:0002081 | 82.71 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 82.64 | gold quality |
| lower esophagus | UBERON:0013473 | 82.55 | gold quality |
| heart left ventricle | UBERON:0002084 | 81.94 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 81.91 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 81.88 | gold quality |
| left coronary artery | UBERON:0001626 | 81.84 | gold quality |
| vermiform appendix | UBERON:0001154 | 81.82 | gold quality |
| left uterine tube | UBERON:0001303 | 81.77 | gold quality |
| skin of leg | UBERON:0001511 | 81.70 | gold quality |
| cardiac ventricle | UBERON:0002082 | 81.63 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 81.59 | gold quality |
| skin of abdomen | UBERON:0001416 | 81.55 | gold quality |
| upper lobe of lung | UBERON:0008948 | 81.35 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 81.22 | gold quality |
| coronary artery | UBERON:0001621 | 81.07 | gold quality |
| heart | UBERON:0000948 | 81.06 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 80.98 | gold quality |
| adipose tissue | UBERON:0001013 | 80.95 | gold quality |
| connective tissue | UBERON:0002384 | 80.92 | gold quality |
| zone of skin | UBERON:0000014 | 80.88 | gold quality |
| calcaneal tendon | UBERON:0003701 | 80.78 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 80.67 | gold quality |
| mucosa of stomach | UBERON:0001199 | 80.63 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 80.56 | gold quality |
| right coronary artery | UBERON:0001625 | 80.43 | gold quality |
| cartilage tissue | UBERON:0002418 | 80.39 | gold quality |
| renal glomerulus | UBERON:0000074 | 80.01 | gold quality |
| superficial temporal artery | UBERON:0001614 | 79.90 | gold quality |
| bronchial epithelial cell | CL:0002328 | 79.05 | gold quality |
| body of uterus | UBERON:0009853 | 78.90 | gold quality |
| tonsil | UBERON:0002372 | 78.87 | gold quality |
| caecum | UBERON:0001153 | 78.78 | gold quality |
| small intestine | UBERON:0002108 | 78.71 | gold quality |
| left testis | UBERON:0004533 | 78.56 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 78.42 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 78.27 | gold quality |
| right testis | UBERON:0004534 | 78.19 | gold quality |
| skin of hip | UBERON:0001554 | 78.12 | gold quality |
| bronchus | UBERON:0002185 | 77.93 | gold quality |
| testis | UBERON:0000473 | 77.83 | gold quality |
| sigmoid colon | UBERON:0001159 | 77.64 | gold quality |
| lung | UBERON:0002048 | 77.47 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 77.28 | gold quality |
| cauda epididymis | UBERON:0004360 | 77.26 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7008 | yes | 188.32 |
| E-CURD-112 | yes | 14.85 |
| E-GEOD-135922 | yes | 9.71 |
| E-ANND-3 | yes | 6.82 |
HPA expression
RNA tissue specificity: Tissue enhanced
showing 60 of 76 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM | Protein (IHC) |
|---|---|---|---|
| Choroid plexus | tissue | 57.4 | |
| Skeletal muscle | tissue | 26.1 | not detected |
| Lymph node | tissue | 19.8 | high |
| Tonsil | tissue | 12.7 | high |
| Spleen | tissue | 12.1 | low |
| Appendix | tissue | 11.0 | high |
| Spinal cord | tissue | 10.3 | |
| Olfactory bulb | tissue | 9.7 | |
| Gallbladder | tissue | 9.4 | not detected |
| Adipose tissue | tissue | 8.7 | not detected |
| Tongue | tissue | 8.7 | |
| Periaqueductal gray | tissue | 8.6 | |
| Locus coeruleus | tissue | 8.4 | |
| Hippocampus | tissue | 7.9 | not detected |
| Thymus | tissue | 7.8 | |
| Hypothalamus | tissue | 7.5 | |
| Substantia nigra | tissue | 7.4 | |
| Heart muscle | tissue | 6.8 | not detected |
| Pancreas | tissue | 6.6 | not detected |
| Nucleus accumbens | tissue | 6.5 | |
| Medulla oblongata | tissue | 6.2 | |
| Lung | tissue | 6.0 | not detected |
| Corpus callosum | tissue | 6.0 | |
| Septum | tissue | 6.0 | |
| Urinary bladder | tissue | 5.9 | not detected |
| Pons | tissue | 5.6 | |
| Vagina | tissue | 5.6 | not detected |
| Midbrain | tissue | 5.4 | |
| Basal ganglia | tissue | 5.3 | not detected |
| Thalamus | tissue | 5.3 | |
| Putamen | tissue | 5.2 | |
| Superior colliculi | tissue | 5.1 | |
| Stomach 1 | tissue | 5.0 | not detected |
| Hippocampal formation | tissue | 4.8 | |
| Ventral forebrain | tissue | 4.7 | |
| Testis | tissue | 4.5 | not detected |
| Amygdala | tissue | 4.3 | |
| Skin 1 | tissue | 4.2 | not detected |
| Ovary | tissue | 3.8 | not detected |
| Parathyroid gland | tissue | 3.8 | not detected |
| Placenta | tissue | 3.8 | not detected |
| Cerebral cortex | tissue | 3.7 | not detected |
| Bone marrow | tissue | 3.7 | medium |
| Insular cortex | tissue | 3.7 | |
| Breast | tissue | 3.6 | not detected |
| Endometrium 1 | tissue | 3.6 | not detected |
| Fallopian tube | tissue | 3.4 | not detected |
| Pituitary gland | tissue | 3.3 | |
| Motor cortex | tissue | 3.3 | |
| Entorhinal cortex | tissue | 3.3 | |
| Prefrontal cortex | tissue | 3.2 | |
| Postcentral gyrus | tissue | 3.1 | |
| Retrosplenial cortex | tissue | 3.1 | |
| Smooth muscle | tissue | 3.0 | not detected |
| Retrosplenial and cingulate cortex | tissue | 3.0 | |
| Temporal cortex | tissue | 3.0 | |
| Duodenum | tissue | 2.9 | not detected |
| Caudate putamen | tissue | 2.9 | |
| Esophagus | tissue | 2.8 | not detected |
| Cervix | tissue | 2.7 | not detected |
Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Nucleus gracilis (17.1), Area postrema (16.4), Cervical spinal cord, central gray (15.3), Nucleus tractus solitarii (14.8), Periaquaductal grey, lateral (14.8).
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
showing 30 of 131 targets:
| Target | Regulation |
|---|---|
| ACHE | |
| ACP5 | |
| ADAM2 | |
| AKT1 | |
| AQP2 | |
| ATP6V0D2 | |
| ATP6V1B2 | |
| B3GAT3 | Repression |
| BCL2 | |
| BGLAP | Repression |
| BMP7 | Activation |
| CALCR | |
| CCNA2 | Activation |
| CCND1 | Unknown |
| CCR9 | |
| CD3G | Activation |
| CD40 | |
| CD5 | |
| CDH1 | |
| CDKN1B | |
| CIITA | |
| CKM | |
| COL1A1 | Activation |
| CORT | |
| CSF2 | Activation |
| CTSK | Activation |
| CX3CR1 | |
| CYP2E1 | Activation |
| DCSTAMP | |
| DIO2 |
Upstream regulators (CollecTRI, top): CREM, FOS, FOXP3, HEY1, KLF15, LMO2, MAFB, NFATC1, NFATC2, NFKB, PPARG, PRDM2, RARA, RBPJ, RELA, SP1, STAT6
miRNA regulators (miRDB)
Targeting NFATC1 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).
14 miRNAs:
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-646 | 99.68 | 67.84 | 1645 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-4687-3P | 99.48 | 66.41 | 968 |
| HSA-MIR-6081 | 99.48 | 66.07 | 1446 |
| HSA-MIR-499A-3P | 99.18 | 69.20 | 1392 |
| HSA-MIR-499B-3P | 99.18 | 69.27 | 1391 |
| HSA-MIR-6830-5P | 99.01 | 68.73 | 1884 |
| HSA-MIR-3124-3P | 98.87 | 68.95 | 2123 |
| HSA-MIR-3127-5P | 97.52 | 65.24 | 786 |
| HSA-MIR-6894-3P | 96.73 | 65.64 | 798 |
Functional genomics
gnomAD constraint: pLI 0.998, LOEUF 0.461, missense Z -0.497 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Regional missense constraint (gnomAD)
ENST00000427363 splits into 3 regions with different missense tolerance; 0 are missense-constrained. Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD
| Region (GRCh38) | Missense obs / exp | o/e | Constrained |
|---|---|---|---|
| 18:79,396,225–79,433,657 | 691 / 613.1 | 1.13 | no |
| 18:79,433,658–79,467,486 | 242 / 329.2 | 0.74 | no |
| 18:79,467,487–79,527,574 | 424 / 395.4 | 1.07 | no |
Literature-anchored findings (GeneRIF, showing 40)
- selective expression in basophils suggests involvement in IgE-mediated IL-4 production in these cells (PMID:11897999)
- C-terminal one third of DNA binding domain confers different binding specificity of NFATc and NFATp to an NFAT site in the TNF-alpha promoters (PMID:11911478)
- role of PKCzeta in T cells through the control of NFAT function by modulating the activity of its transactivation domain (PMID:12021260)
- opposition of calcineurin-mediated nuclear accumulation and transcriptional activity by glycogen synthase kinase 3 (PMID:12351631)
- selection of RNA inhibitors to study NFATc function (PMID:12408978)
- mediates vascular endothelial growth factor-induced proliferation of human pulmonary valve endothelial cells (PMID:12427739)
- NFATc1 with AP-3 site binding specificity has a role in mediating gene expression of prostate-specific-membrane-antigen (PMID:12850144)
- NFAT2 has a role in regulating IL13 gene transcription in mast cells (PMID:15229217)
- RANKL-induced cathepsin K gene expression is cooperatively regulated by the combination of the transcription factors and p38 MAP kinase in a gradual manner. (PMID:15304486)
- Interleukin (IL)-15 and IL-2 reciprocally regulate expression of the chemokine receptor CX3CR1 through selective NFAT1- and NFAT2-dependent mechanisms (PMID:15347678)
- association of nuclear factor-kappaB and NFAT with its enhancer region is dependent on activation of the HIV-1 clade E long terminal repeat, which is inhibited by T-cell activation (PMID:15466412)
- PC1 signaling elevates intracellular Ca(2+), activates Galpha(q) and PLC, which then activates calcineurin and NFAT (PMID:15466861)
- Expression of NFATc1 and NFATc2 wild type protein or the active catalytic subunit of calcineurin transactivates COX-2 promoter activity, whereas a dominant negative mutant of NFAT inhibited COX-2 induction in colon carcinoma cell lines. (PMID:15632146)
- analysis of a positive feedback circuit of TRANCE-induced activation of NFATc1, involving NFATc1-mediated OSCAR expression and its subsequent activation of NFATc1, necessary for efficient differentiation of osteoclasts (PMID:16109714)
- the MCP-1-induced TRAP(+)/CTR(+) multinuclear cells represent an arrested stage in osteoclast differentiation, after NFATc1 induction and cellular fusion but prior to the development of bone resorption activity (PMID:16280328)
- the beta3 integrin gene is the direct target of NFAT1 in osteoclast formation (PMID:16340127)
- Unstimulated adult skeletal muscle fibers exhibit a previously unanticipated nucleocytoplasmic shuttling of NFATc1 without appreciable nuclear accumulation. (PMID:16436503)
- These results establish the beta3 gene as a direct target of NFATc1 in RANKL-dependent osteoclast formation. (PMID:16513293)
- Tacrolimus or cyclosporine A act on human osteoclast precursors in rheumatoid arthritis patients by targeting the calcineurin-dependent NFAT pathway and activation pathway for c-Jun or MITF. (PMID:16586042)
- Together, these results demonstrate that ectopic activation of NFATc1 and the Ca2+/calcineurin signaling pathway is an important mechanism of oncogenic c-myc activation in pancreatic cancer. (PMID:16874304)
- NFAT1, a transcription factor connected with breast cancer metastasis, is activated by Wnt-5a through a Ca2+ signaling pathway in human breast epithelial cells which was simultaneously counteracted by a Wnt-5a-induced Yes/Cdc42 signaling pathway. (PMID:16880514)
- Expression of NFATc1/alphaA, the most prominent of six NFATc1 isoforms in peripheral T cells, is strongly induced following T-cell receptor and co-receptor stimulation and maintained by positive autoregulation, as discussed in this review. (PMID:16931157)
- In Wiskott-Aldrich CD8+ T cells, a block in cytokine production correlates with reduced nuclear levels of both NFAT-1 and NFAT-2. (PMID:17082665)
- AMPK mediates IL-2 production by regulating NF-AT and AP-1activation during T cell stimulation. (PMID:17097050)
- role in congenital heart disease (PMID:17110989)
- Endothelin 1 (ET-1) activates calcineurin and causes nuclear translocation of NFATc1, implicating the pathway in the ET-1-mediated stimulation of osteoblasts. (PMID:17237284)
- The expression pattern of NFAT and its family member- and lineage-specific regulation during myeloid differentiation will prompt further studies on the role of NFAT in myeloid cells, particularly in megakaryocytes. (PMID:17577925)
- Our results provide evidence that NFAT2 is constitutively expressed in human neutrophils, and after IgE-dependent activation operates as a transcription factor in the modulation of genes, such as COX2, during allergic inflammation. (PMID:17606988)
- DSCR1 gene is a direct transcriptional target of NFATc1 proteins within the endocardium during a critical window of heart valve formation. (PMID:17693409)
- the concerted action of the transcription factors Egr1 and NFAT2 can play a crucial role in regulation of the T cell differentiation in vitro due to the cooperative regulation of Id3 and Rag2 gene expression. (PMID:17922653)
- The promoter/enhancer activity of the NFAT-binding site in the TNF-alpha gene was up-regulated by NFATc2 but not by NFATc1, whereas both NFATs associated similarly with this region. (PMID:18097033)
- histone modifications precede the DNA methylation in NFATC1 promoter silencing (PMID:18156209)
- These data provide evidence that NFATc1, in concert with PU.1, are involved in regulation of beta(3) integrin expression during osteoclast differentiation. (PMID:18288635)
- Report nucleo-translocation/activation of NFAT2 in lamina propria mononuclear cells in ulcerative colitis. (PMID:18350607)
- The crystal structure of NFATC1 bound to the HIV-1 LTR tandem kappaB enhancer element is described. (PMID:18462673)
- the cyclin A-CDK2 complex may be a potential effector of NFATs, specifically NFATc1, in mediating SMC multiplication leading to neointima formation. (PMID:18667424)
- these data suggest that the proinflammatory, antiapoptotic, and procarcinogenic functions of UV-activated COX-2 may be mediated, in part, by upstream NFAT signaling. (PMID:18708588)
- cyclic AMP signals enhance histone H3 acetylation at the IL-5 promoter and the concerted binding of GATA-3 and NFATc to the promoter. (PMID:18772129)
- The presence of NFATc1 and Osx in our material lends further support to the hypothesis that during the process of aortic valve calcification there is expression of osteoblastic phenotypes by valvular cells (PMID:19019468)
- These findings may provide a better understanding of the NFATc1 regulation of ADAMTS9 expression induced by inflammatory cytokines such as IL-1 beta. (PMID:19052845)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nfatc1 | ENSDARG00000036168 |
| mus_musculus | Nfatc1 | ENSMUSG00000033016 |
| rattus_norvegicus | Nfatc1 | ENSRNOG00000017146 |
Paralogs (4): NFATC3 (ENSG00000072736), NFATC4 (ENSG00000100968), NFATC2 (ENSG00000101096), NFAT5 (ENSG00000102908)
Mouse-model phenotypes
Observed phenotypes of the mouse ortholog (MGI:102469) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 78 distinct phenotype terms.
| Mouse phenotype (MP) | Records |
|---|---|
| edema | 2 |
| abnormal B cell physiology | 2 |
| increased IgM level | 2 |
| abnormal semilunar valve morphology | 2 |
| decreased susceptibility to experimental autoimmune encephalomyelitis | 2 |
| abnormal cardiac outflow tract development | 2 |
| decreased IgG3 level | 2 |
| lethality throughout fetal growth and development, complete penetrance | 2 |
| osteopetrosis | 1 |
| abnormal heart morphology | 1 |
| abnormal interventricular septum morphology | 1 |
| decreased atrioventricular cushion size | 1 |
| gastrointestinal hemorrhage | 1 |
| abnormal lymphocyte cell number | 1 |
| abnormal locomotor behavior | 1 |
| abnormal cardiovascular system physiology | 1 |
| anemia | 1 |
| cardiac hypertrophy | 1 |
| abnormal immune system physiology | 1 |
| decreased IgM level | 1 |
| abnormal blood circulation | 1 |
| abnormal T cell physiology | 1 |
| decreased immunoglobulin level | 1 |
| increased immunoglobulin level | 1 |
| abnormal immunoglobulin level | 1 |
+53 more (showing top 25).
Additional cross-species homologs
Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.
| Organism | UniProt | Identity | Method |
|---|---|---|---|
| Sus scrofa | O77638 | 85.7% | Diamond |
| Bos taurus | P98201 | 85.2% | Diamond |
Genomic neighbors (locus context)
Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).
| Symbol | Type | Entrez |
|---|---|---|
| KCNG2 | protein-coding | 26251 |
| CTDP1-DT | ncRNA | 284241 |
| CTDP1 | protein-coding | 9150 |
| ATP9B | protein-coding | 374868 |
| SALL3 | protein-coding | 27164 |
Protein
Protein identifiers
Nuclear factor of activated T-cells, cytoplasmic 1 — O95644 (reviewed: O95644)
Alternative names: NFAT transcription complex cytosolic component
All UniProt accessions (4): F5H4S8, K7EQ04, K7ER53, O95644
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2 or IL-4 gene transcription. Also controls gene expression in embryonic cardiac cells. Could regulate not only the activation and proliferation but also the differentiation and programmed death of T-lymphocytes as well as lymphoid and non-lymphoid cells. Required for osteoclastogenesis and regulates many genes important for osteoclast differentiation and function.
Subunit / interactions. 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 HOMER2 and HOMER3; this interaction may compete with calcineurin/PPP3CA-binding and hence prevent NFATC1 dephosphorylation and activation. Interacts with TLE6/GRG6.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Expressed in thymus, peripheral leukocytes as T-cells and spleen. Isoforms A are preferentially expressed in effector T-cells (thymus and peripheral leukocytes) whereas isoforms B and isoforms C are preferentially expressed in naive T-cells (spleen). Isoforms B are expressed in naive T-cells after first antigen exposure and isoforms A are expressed in effector T-cells after second antigen exposure. Isoforms IA are widely expressed but not detected in liver nor pancreas, neural expression is strongest in corpus callosum. Isoforms IB are expressed mostly in muscle, cerebellum, placenta and thymus, neural expression in fetal and adult brain, strongest in corpus callosum.
Post-translational modifications. Phosphorylated by NFATC-kinase and GSK3B; phosphorylation induces NFATC1 nuclear exit and dephosphorylation by calcineurin promotes nuclear import. Phosphorylation by PKA and DYRK2 negatively modulates nuclear accumulation, and promotes subsequent phosphorylation by GSK3B or casein kinase 1.
Domain organisation. Rel Similarity Domain (RSD) allows DNA-binding and cooperative interactions with AP1 factors. The N-terminal transactivation domain (TAD-A) binds to and is activated by Cbp/p300. The dephosphorylated form contains two unmasked nuclear localization signals (NLS), which allow translocation of the protein to the nucleus. Isoforms C have a C-terminal part with an additional transactivation domain, TAD-B, which acts as a transcriptional activator. Isoforms B have a shorter C-terminal part without complete TAD-B which acts as a transcriptional repressor.
Induction. Only isoforms A are inducibly expressed in T lymphocytes upon activation of the T-cell receptor (TCR) complex. Induced after co-addition of phorbol 12-myristate 13-acetate (PMA) and ionomycin. Also induced after co-addition of 12-O-tetradecanoylphorbol-13-acetate (TPA) and ionomycin. Weakly induced with PMA, ionomycin and cyclosporin A.
Miscellaneous. Produced by alternative initiation at Met-37 of isoform A-alpha.
Isoforms (10)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O95644-1 | C-alpha | yes |
| O95644-2 | A-alpha, IA-VIII | |
| O95644-3 | A-beta, IB-VIII | |
| O95644-4 | B-alpha, IA-IXS | |
| O95644-5 | B-beta, IB-IXS | |
| O95644-6 | C-beta, IB-IXL | |
| O95644-8 | A-alpha' | |
| O95644-10 | IA-deltaIX | |
| O95644-11 | IB-deltaIX | |
| O95644-17 | 10 |
RefSeq proteins (10): NP_001265598, NP_001265599, NP_001265601, NP_001265602, NP_001265604, NP_006153, NP_765975, NP_765976, NP_765977, NP_765978 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002909 | IPT_dom | Domain |
| IPR008366 | NFAT | Family |
| IPR008967 | p53-like_TF_DNA-bd_sf | Homologous_superfamily |
| IPR011539 | RHD_DNA_bind_dom | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR014756 | Ig_E-set | Homologous_superfamily |
| IPR032397 | RHD_dimer | Domain |
| IPR037059 | RHD_DNA_bind_dom_sf | Homologous_superfamily |
Pfam: PF00554, PF16179
UniProt features (57 total): strand 13, region of interest 7, splice variant 7, modified residue 5, short sequence motif 4, compositionally biased region 4, repeat 3, sequence variant 3, mutagenesis site 3, sequence conflict 2, helix 2, chain 1, domain 1, DNA-binding region 1, turn 1
Structure
Experimental structures (PDB)
3 structures by resolution:
| PDB | Title | Method | Resolution (Å) |
|---|---|---|---|
| 5SVE | Structure of Calcineurin in complex with NFATc1 LxVP peptide | X-RAY DIFFRACTION | 2.6 |
| 1A66 | SOLUTION NMR STRUCTURE OF THE CORE NFATC1/DNA COMPLEX, 18 STRUCTURES | SOLUTION NMR | |
| 1NFA | HUMAN TRANSCRIPTION FACTOR NFATC DNA BINDING DOMAIN, NMR, 10 STRUCTURES | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95644-F1 | 57.66 | 0.24 |
Human Protein Atlas
Protein class: Predicted intracellular proteins, Transcription factors, Immunoglobulin fold
Protein evidence: Evidence at protein level
Subcellular location (HPA, imaging): nuclear bodies; nucleoplasm
Antibody reliability (HPA): IH enhanced · IF supported
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (5)
| Type | Positions |
|---|---|
| Phosphoserine | 233, 237, 245, 269, 294 |
Mutagenesis-validated functional residues (3)
| Position | Phenotype |
|---|---|
| 169 | no effect on subcellular localization. |
| 172 | partial nuclear translocation. |
| 187 | no effect on subcellular localization. |
Function
Pathways and Gene Ontology
Reactome pathways
3 curated (TAS) of 16; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).
16 pathways:
| ID | Pathway | Evidence |
|---|---|---|
| R-HSA-5607763 | CLEC7A (Dectin-1) induces NFAT activation | curated |
| R-HSA-4086398 | Ca2+ pathway | curated |
| R-HSA-2871809 | FCERI mediated Ca+2 mobilization | curated |
| R-HSA-1280218 | Adaptive Immune System | — |
| R-HSA-3858494 | Beta-catenin independent WNT signaling | — |
| R-HSA-5621481 | C-type lectin receptors (CLRs) | — |
| R-HSA-5607764 | CLEC7A (Dectin-1) signaling | — |
| R-HSA-2025928 | Calcineurin activates NFAT | electronic |
| R-HSA-9942503 | Differentiation of naive CD4+ T cells to T helper 1 cells (Th1 cells) | electronic |
| R-HSA-1168372 | Downstream signaling events of B Cell Receptor (BCR) | — |
| R-HSA-2454202 | Fc epsilon receptor (FCERI) signaling | — |
| R-HSA-168256 | Immune System | — |
| R-HSA-168249 | Innate Immune System | — |
| R-HSA-162582 | Signal Transduction | — |
| R-HSA-195721 | Signaling by WNT | — |
| R-HSA-983705 | Signaling by the B Cell Receptor (BCR) | — |
MSigDB gene sets: 361 (showing top):
PID_BCR_5PATHWAY, MODULE_97, MULLIGHAN_NPM1_SIGNATURE_3_UP, BIOCARTA_FMLP_PATHWAY, REACTOME_INNATE_IMMUNE_SYSTEM, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_SMOOTH_MUSCLE_CELL_DIFFERENTIATION, PEREZ_TP63_TARGETS, GOBP_SMOOTH_MUSCLE_CELL_DIFFERENTIATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, PID_NFAT_3PATHWAY, MODULE_182, GOBP_VASCULAR_ASSOCIATED_SMOOTH_MUSCLE_CELL_DIFFERENTIATION
GO Biological Process (11): aortic valve morphogenesis (GO:0003180), pulmonary valve morphogenesis (GO:0003184), DNA-templated transcription (GO:0006351), negative regulation of Wnt signaling pathway (GO:0030178), calcineurin-NFAT signaling cascade (GO:0033173), intracellular signal transduction (GO:0035556), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), negative regulation of inflammatory response (GO:0050728), negative regulation of vascular associated smooth muscle cell differentiation (GO:1905064), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (11): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA-binding transcription factor activity (GO:0003700), FK506 binding (GO:0005528), protein phosphatase 2B binding (GO:0030346), mitogen-activated protein kinase p38 binding (GO:0048273), RNA polymerase II-specific DNA-binding transcription factor binding (GO:0061629), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515)
GO Cellular Component (7): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription regulator complex (GO:0005667), cytoplasm (GO:0005737), cytosol (GO:0005829), nuclear body (GO:0016604)
Reactome top-level categories
12 top-level categories:
| Category | Pathways |
|---|---|
| Immune System | 2 |
| Innate Immune System | 2 |
| Downstream signaling events of B Cell Receptor (BCR) | 1 |
| Fc epsilon receptor (FCERI) signaling | 1 |
| Beta-catenin independent WNT signaling | 1 |
| CLEC7A (Dectin-1) signaling | 1 |
| Differentiation of T cells | 1 |
| Signaling by the B Cell Receptor (BCR) | 1 |
| Signal Transduction | 1 |
| Signaling by WNT | 1 |
| C-type lectin receptors (CLRs) | 1 |
| Adaptive Immune System | 1 |
GO top-level categories
51 GO namespaces:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 3 |
| heart valve morphogenesis | 2 |
| intracellular anatomical structure | 2 |
| DNA-templated transcription | 2 |
| regulation of DNA-templated transcription | 2 |
| regulation of transcription by RNA polymerase II | 2 |
| aortic valve development | 1 |
| pulmonary valve development | 1 |
| gene expression | 1 |
| RNA biosynthetic process | 1 |
| negative regulation of signal transduction | 1 |
| Wnt signaling pathway | 1 |
| regulation of Wnt signaling pathway | 1 |
| calcineurin-mediated signaling | 1 |
| signal transduction | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| inflammatory response | 1 |
| negative regulation of defense response | 1 |
| negative regulation of response to external stimulus | 1 |
| regulation of inflammatory response | 1 |
| vascular associated smooth muscle cell differentiation | 1 |
| negative regulation of smooth muscle cell differentiation | 1 |
| regulation of vascular associated smooth muscle cell differentiation | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription activator activity | 1 |
| positive regulation of transcription by RNA polymerase II | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| macrolide binding | 1 |
| protein phosphatase binding | 1 |
| mitogen-activated protein kinase binding | 1 |
| DNA-binding transcription factor binding | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| protein-containing complex | 1 |
| cytoplasm | 1 |
| nucleoplasm | 1 |
| intracellular membraneless organelle | 1 |
Experimentally-supported GO annotations
GO terms backed by direct experimental evidence (ECO experimental codes) — 12 of 29 annotations. The rest are phylogenetic / computational / electronic (IEA).
12 experimentally-supported GO terms:
| GO term | NS | Evidence |
|---|---|---|
| calcineurin-NFAT signaling cascade | BP | direct assay |
| intracellular signal transduction | BP | direct assay |
| negative regulation of inflammatory response | BP | direct assay |
| negative regulation of vascular associated smooth muscle cell differentiation | BP | direct assay |
| positive regulation of DNA-templated transcription | BP | direct assay |
| positive regulation of transcription by RNA polymerase II | BP | direct assay |
| chromatin | CC | direct assay |
| nuclear body | CC | direct assay |
| nucleoplasm | CC | direct assay |
| nucleus | CC | direct assay |
| protein phosphatase 2B binding | MF | physical interaction |
| sequence-specific double-stranded DNA binding | MF | direct assay |
Protein interactions and networks
STRING
showing 15 of 2,546 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NFATC1 | TNFSF11 | O14788 | 941 |
| NFATC1 | ACP5 | P13686 | 936 |
| NFATC1 | DCSTAMP | Q9H295 | 893 |
| NFATC1 | CTSK | P43235 | 889 |
| NFATC1 | FOS | P01100 | 861 |
| NFATC1 | TNFRSF11B | O00300 | 799 |
| NFATC1 | RCAN1 | P53805 | 780 |
| NFATC1 | OSCAR | Q8IYS5 | 776 |
| NFATC1 | CALML6 | Q8TD86 | 775 |
| NFATC1 | CALML5 | Q9NZT1 | 775 |
| NFATC1 | CALML4 | Q96GE6 | 775 |
| NFATC1 | CALML3 | P27482 | 774 |
| NFATC1 | CALM1 | P02593 | 773 |
| NFATC1 | CALCR | P30988 | 766 |
| NFATC1 | PPP3R1 | P06705 | 761 |
IntAct
Human interaction partners of NFATC1 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).
27 partners by confidence:
| Partner | Interaction type | MIscore | Records |
|---|---|---|---|
| PPP3CA | physical association | 0.720 | 4 |
| JUN | physical association | 0.610 | 3 |
| ATF1 | physical association | 0.580 | 2 |
| CREB1 | physical association | 0.580 | 2 |
| PPP3CC | association | 0.530 | 2 |
| OGT | physical association | 0.500 | 2 |
| ATF2 | physical association | 0.500 | 1 |
| ATF3 | physical association | 0.500 | 1 |
| HOXC13 | physical association | 0.500 | 1 |
| SMARCA4 | proximity | 0.480 | 4 |
| TP53 | proximity | 0.480 | 1 |
| JAK3 | phosphorylation reaction | 0.440 | 1 |
| YWHAZ | physical association | 0.400 | 1 |
| IFNL1 | physical association | 0.370 | 1 |
| XCL2 | physical association | 0.370 | 1 |
| IL2 | association | 0.350 | 1 |
| NKX2-3 | association | 0.350 | 1 |
| OBSL1 | association | 0.350 | 1 |
| SMARCA5 | association | 0.350 | 1 |
| FBXW7 | proximity | 0.270 | 4 |
| SMAD4 | proximity | 0.270 | 4 |
| SPOP | proximity | 0.270 | 4 |
| AKT1 | proximity | 0.270 | 1 |
| BRAF | proximity | 0.270 | 1 |
| EGFR | proximity | 0.270 | 1 |
| PTEN | proximity | 0.270 | 1 |
| PTPN11 | proximity | 0.270 | 1 |
BioGRID (211 interactions; top human partners by supporting records): EP300 (Affinity Capture-Western; 8 records), JUN (Affinity Capture-MS; 4 records), PPP3CC (Affinity Capture-MS; 4 records), CREB1 (Affinity Capture-MS; 3 records), ARMC8 (Affinity Capture-MS; 2 records), CHEK1 (Affinity Capture-Western; 2 records), CREBBP (Affinity Capture-MS; 2 records), DNAAF2 (Affinity Capture-MS; 2 records), FOS (Affinity Capture-MS; 2 records), FOXP3 (Affinity Capture-Luminescence; 2 records), GSK3B (Affinity Capture-Western; 2 records), HDAC2 (Affinity Capture-MS; 2 records), HDAC5 (Biochemical Activity; 2 records), HMGCS2 (Affinity Capture-MS; 2 records), IKZF1 (Affinity Capture-Western; 2 records)
SIGNOR signaling
showing 31 of 49 signaling interactions:
| A | Effect | B | Mechanism |
|---|---|---|---|
| PPP3CA | up-regulates | NFATC1 | dephosphorylation |
| PPP3CC | up-regulates | NFATC1 | relocalization |
| PRKCA | “down-regulates activity” | NFATC1 | phosphorylation |
| NFATC1 | “up-regulates quantity by expression” | IL6 | “transcriptional regulation” |
| Calcineurin | up-regulates | NFATC1 | dephosphorylation |
| AP1 | “up-regulates activity” | NFATC1 | binding |
| PPP3CA | “up-regulates activity” | NFATC1 | dephosphorylation |
| NFATC1 | “up-regulates quantity by expression” | PLAUR | “transcriptional regulation” |
| CDC42 | “up-regulates activity” | NFATC1 | |
| NFATC1 | “up-regulates quantity by expression” | IL4 | “transcriptional regulation” |
| NFATC1 | up-regulates | Myotube_hypertrophy | “transcriptional regulation” |
| NFATC1 | “up-regulates quantity by expression” | GPC6 | “transcriptional regulation” |
| NFATC1 | “up-regulates quantity by expression” | PTGS2 | “transcriptional regulation” |
| PP2B | up-regulates | NFATC1 | relocalization |
| NFATC1 | up-regulates | Differentiation | |
| NFATC1 | “up-regulates quantity by expression” | IL2 | “transcriptional regulation” |
| JAK3 | “up-regulates activity” | NFATC1 | phosphorylation |
| PIM1 | “up-regulates activity” | NFATC1 | phosphorylation |
| IKBKE | “up-regulates activity” | NFATC1 | phosphorylation |
| DYRK1A | “up-regulates activity” | NFATC1 | phosphorylation |
| GSK3B | “down-regulates activity” | NFATC1 | phosphorylation |
| MAPK8 | “down-regulates activity” | NFATC1 | phosphorylation |
| MAPK10 | down-regulates | NFATC1 | phosphorylation |
| MAPK14 | down-regulates | NFATC1 | phosphorylation |
| MAPK3 | down-regulates | NFATC1 | phosphorylation |
| PPP3CB | up-regulates | NFATC1 | relocalization |
| PRKACA | down-regulates | NFATC1 | phosphorylation |
| NFATC1 | “up-regulates quantity by expression” | MYH7 | “transcriptional regulation” |
| NFATC1 | “up-regulates activity” | T_cell_activation | |
| PIM2 | “up-regulates activity” | NFATC1 | phosphorylation |
| PIM3 | “up-regulates activity” | NFATC1 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 27 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Signaling by Interleukins | 7 | 18.0× | 3e-05 |
| RAF/MAP kinase cascade | 6 | 14.7× | 4e-04 |
| PIP3 activates AKT signaling | 5 | 13.4× | 1e-03 |
| Cytokine Signaling in Immune system | 7 | 11.4× | 4e-04 |
| Signaling by Receptor Tyrosine Kinases | 5 | 10.3× | 3e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of miRNA transcription | 5 | 53.8× | 1e-05 |
| transforming growth factor beta receptor signaling pathway | 5 | 29.4× | 1e-04 |
| positive regulation of ERK1 and ERK2 cascade | 5 | 15.8× | 6e-04 |
| negative regulation of apoptotic process | 9 | 11.6× | 1e-05 |
| positive regulation of gene expression | 7 | 10.0× | 4e-04 |
| negative regulation of cell population proliferation | 5 | 7.8× | 5e-03 |
Disease & clinical
Genetic variants
Variant evidence for NFATC1: 399 ClinVar records (2 pathogenic / likely pathogenic); 59 GWAS associations. Per-variant detail is on Sugi Variant.
ClinVar
399 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 223 |
| Likely benign | 112 |
| Benign | 37 |
Top pathogenic / likely-pathogenic (2)
Showing all 2 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.
| Variant ID | HGVS | Classification | Review | Submitters |
|---|---|---|---|---|
| 1807794 | GRCh37/hg19 18q22.1-23(chr18:66530142-78014123)x1 | Pathogenic | criteria provided, single submitter | 1 |
| 2500799 | GRCh37/hg19 18q22.1-23(chr18:66459747-78012829)x1 | Pathogenic | no assertion criteria provided | 1 |
Per-variant reference — Sugi Variant
Explore NFATC1’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 39 predictions of 2,468):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 18:79433739–79433740 | donor_loss | 1.0000 | 5 |
| 18:79448776 | acceptor_gain | 1.0000 | |
| 18:79448780–79448781 | acceptor_loss | 1.0000 | 5 |
| 18:79448985–79448986 | donor_loss | 1.0000 | 4 |
| 18:79450947–79450948 | acceptor_gain | 1.0000 | 2 |
| 18:79461309–79461310 | acceptor_loss | 1.0000 | 5 |
| 18:79396349 | donor_gain | 0.9900 | |
| 18:79396352–79396353 | donor_loss | 0.9900 | 5 |
| 18:79410401–79410402 | acceptor_loss | 0.9900 | 6 |
| 18:79411502–79411503 | donor_loss | 0.9900 | 5 |
AlphaMissense
1,691 missense substitutions predicted likely pathogenic (of 6,075 scored), across 391 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:
| Residue | Likely-pathogenic substitutions | Mean am_pathogenicity | Max am_pathogenicity |
|---|---|---|---|
| M527 | 9 | 0.953 | 0.998 |
| N541 | 8 | 0.999 | 1.000 |
| D543 | 8 | 0.999 | 1.000 |
| H438 | 8 | 0.998 | 1.000 |
| S447 | 8 | 0.997 | 1.000 |
| H489 | 8 | 0.997 | 1.000 |
| F491 | 8 | 0.996 | 1.000 |
| N557 | 8 | 0.996 | 1.000 |
| H495 | 8 | 0.993 | 1.000 |
| D552 | 8 | 0.989 | 0.998 |
| F629 | 8 | 0.988 | 1.000 |
| D532 | 8 | 0.987 | 0.999 |
| H441 | 8 | 0.985 | 0.999 |
| F564 | 8 | 0.983 | 0.999 |
| D482 | 8 | 0.981 | 0.998 |
| F477 | 8 | 0.979 | 1.000 |
| H458 | 8 | 0.957 | 0.998 |
| F621 | 8 | 0.948 | 0.999 |
| H437 | 8 | 0.939 | 0.998 |
| S176 | 8 | 0.938 | 0.998 |
HPA cancer prognostics
RNA cancer specificity: Low cancer specificity
Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.
2 prognostic cancer types:
| Cancer | Prognostic | p-value |
|---|---|---|
| Breast Invasive Carcinoma (validation) | favorable | 4.79e-05 |
| Rectum Adenocarcinoma (validation) | favorable | 5.38e-05 |
Disease associations
OMIM: gene MIM:600489 | disease phenotypes:
GenCC curated gene-disease
2 curated gene-disease records:
| Disease | Classification | Inheritance | Records |
|---|---|---|---|
| inborn error of immunity | Moderate | Autosomal recessive | |
| congenital heart disease | Limited | Autosomal dominant |
ClinGen Gene-Disease Validity
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
1 validity classifications:
| Disease | Classification | Inheritance |
|---|---|---|
| congenital heart disease | Limited | AD |
Genomics England panels (PanelApp)
Clinical diagnostic gene panels including this gene (1 panels, 0 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.
1 panels:
| Panel | Rating |
|---|---|
| Primary immunodeficiency or monogenic inflammatory bowel disease | amber |
Mondo (2): congenital heart disease (MONDO:0005453), inborn error of immunity (MONDO:0003778)
GWAS associations
showing 30 of 59 associations:
| Study | Trait | p-value |
|---|---|---|
| GCST008058_79 | Estimated glomerular filtration rate | 7e-81 |
| GCST008059_14 | Estimated glomerular filtration rate | 4e-60 |
| GCST007876_121 | Estimated glomerular filtration rate | 8e-45 |
| GCST008747_44 | Estimated glomerular filtration rate | 8e-43 |
| GCST008745_70 | Estimated glomerular filtration rate in non-diabetics | 2e-36 |
| GCST008747_118 | Estimated glomerular filtration rate | 2e-29 |
| GCST007344_16 | Estimated glomerular filtration rate | 2e-28 |
| GCST005985_7 | Creatinine levels | 1e-25 |
| GCST005984_43 | Glomerular filtration rate | 9e-25 |
| GCST90002395_480 | Mean platelet volume | 1e-18 |
| GCST008060_27 | Estimated glomerular filtration rate | 1e-17 |
| GCST008062_127 | Blood urea nitrogen levels | 2e-17 |
| GCST90002395_477 | Mean platelet volume | 5e-17 |
| GCST90000025_423 | Appendicular lean mass | 1e-16 |
| GCST007916_5 | Hyperuricemia | 2e-16 |
| GCST007917_1 | Estimated glomerular filtration rate | 2e-16 |
| GCST007919_7 | Creatinine levels | 2e-16 |
| GCST007920_9 | Chronic kidney disease | 2e-16 |
| GCST90013406_101 | Liver enzyme levels (alkaline phosphatase) | 4e-15 |
| GCST004599_80 | Mean platelet volume | 8e-15 |
| GCST006979_529 | Heel bone mineral density | 2e-14 |
| GCST90002388_619 | Lymphocyte count | 2e-13 |
| GCST007448_2 | Normal facial asymmetry (angle of surface orientation score) | 4e-13 |
| GCST007877_21 | Creatinine levels | 4e-13 |
| GCST90002395_479 | Mean platelet volume | 1e-12 |
| GCST008064_45 | Chronic kidney disease | 2e-12 |
| GCST90011900_83 | Serum alkaline phosphatase levels | 2e-12 |
| GCST006979_528 | Heel bone mineral density | 5e-12 |
| GCST006288_568 | Heel bone mineral density | 2e-11 |
| GCST006392_3 | Estimated glomerular filtration rate | 2e-11 |
EFO canonical traits (from GWAS)
17 canonical traits:
| EFO ID | Trait name |
|---|---|
| EFO:0004763 | p-tau measurement |
| EFO:0009270 | heel bone mineral density |
| EFO:0009599 | feeling emotionally hurt measurement |
| EFO:0009751 | facial asymmetry measurement |
| EFO:0009104 | hyperuricemia |
| EFO:0009933 | Thyroid preparation use measurement |
| EFO:0009936 | Drugs affecting bone structure and mineralization use measurement |
| EFO:0004335 | short-term memory |
| EFO:0007785 | femoral neck bone mineral density |
| EFO:0009819 | comparative body size at age 10, self-reported |
| EFO:0005674 | white matter microstructure measurement |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0004980 | appendicular lean mass |
| EFO:0004587 | lymphocyte count |
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0007990 | neutrophil percentage of leukocytes |
| EFO:0004533 | alkaline phosphatase measurement |
MeSH disease descriptors
2 disease descriptors:
| Descriptor | Name | Tree numbers |
|---|---|---|
| D006330 | Heart Defects, Congenital | C14.240.400; C14.280.400; C16.131.240.400 |
| D007153 | Immunologic Deficiency Syndromes | C20.673 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3876 (SINGLE PROTEIN)
PharmGKB: 1 entry (CPIC guideline: no)
PharmGKB variant annotations
Per-publication pharmacogenomic findings for this gene (significant associations).
4 published findings:
| Variant | Drug(s) | Category | Finding | PMID |
|---|---|---|---|---|
| rs1017860 | cyclosporine, methotrexate | Efficacy | Genotype CC is associated with increased risk of Graft vs Host Disease when treated with cyclosporine and methotrexate in people with Hematopoietic stem cell transplantation as compared to genotypes CT + TT. | PMID:25425682 |
| rs8090560 | cyclosporine, methotrexate | Efficacy | Genotype GG is associated with increased risk of Graft vs Host Disease when treated with cyclosporine and methotrexate in people with Hematopoietic stem cell transplantation as compared to genotypes AA + AG. | PMID:25425682 |
| rs3894049 | cyclosporine, mycophenolic acid, prednisone | Efficacy | Genotype CC is associated with decreased likelihood of transplant rejection when treated with cyclosporine, mycophenolic acid and prednisone in people with Kidney Transplantation as compared to genotype CG. | PMID:28244807 |
| rs2280055 | cyclosporine, mycophenolic acid, prednisone | Efficacy | Genotype CC is associated with Decreased glomerular filtration rate when treated with cyclosporine, mycophenolic acid and prednisone in people with Kidney Transplantation as compared to genotypes CT + TT. | PMID:28244807 |
Binding affinities (BindingDB)
17 measured of 17 human assays (17 total across all organisms); most potent 17 below. Values come from heterogeneous assays and are not directly comparable.
| Ligand | Measure | Value | Patent |
|---|---|---|---|
| CHEMBL4079572 | IC50 | 1 nM | |
| 3-pyridin-4-yl-1H-pyrrolo[2,3-c]pyridine | IC50 | 1 nM | US-20250099442: COMPOUNDS FOR USE IN TREATING NEUROLOGICAL DISORDERS |
| CHEMBL4105629 | IC50 | 8 nM | |
| 1-propan-2-yl-3-pyridin-4-ylpyrrolo[2,3-c]pyridine | IC50 | 8 nM | US-20250099442: COMPOUNDS FOR USE IN TREATING NEUROLOGICAL DISORDERS |
| CHEMBL4091320 | IC50 | 10 nM | |
| CHEMBL4069163 | IC50 | 12 nM | |
| CHEMBL4075648 | IC50 | 61 nM | |
| CHEMBL4098505 | IC50 | 69 nM | |
| CHEMBL4080488 | IC50 | 75 nM | |
| CHEMBL4077010 | IC50 | 89 nM | |
| CHEMBL4095674 | IC50 | 109 nM | |
| CHEMBL4072138 | IC50 | 138 nM | |
| CHEMBL4090889 | IC50 | 242 nM | |
| CHEMBL4066607 | IC50 | 277 nM | |
| CHEMBL5174163 | IC50 | 4500 nM | |
| CHEMBL5195853 | IC50 | 11600 nM | |
| CHEMBL5181607 | IC50 | 18700 nM |
ChEMBL bioactivities
12 potent at pChembl≥5 of 17 total, top 12 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.51 | EC50 | 310 | nM | CHEMBL4064316 |
| 5.80 | EC50 | 1590 | nM | CHEMBL4105629 |
| 5.66 | EC50 | 2210 | nM | CHEMBL4077010 |
| 5.53 | EC50 | 2980 | nM | CHEMBL4084955 |
| 5.35 | IC50 | 4500 | nM | CHEMBL5174163 |
| 5.32 | EC50 | 4800 | nM | CHEMBL4079572 |
| 5.31 | EC50 | 4850 | nM | CHEMBL4098505 |
| 5.28 | EC50 | 5310 | nM | CHEMBL4075648 |
| 5.16 | EC50 | 6900 | nM | CHEMBL4091320 |
| 5.16 | EC50 | 6960 | nM | CHEMBL4095674 |
| 5.12 | EC50 | 7580 | nM | CHEMBL4069163 |
| 5.01 | EC50 | 9800 | nM | CHEMBL4090889 |
PubChem BioAssay actives
12 with measured affinity, of 86 total; 12 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 1-propan-2-yl-3-pyridin-4-ylpyrrolo[2,3-c]pyridine | 1478838: Induction of nuclear translocation of human GFP-tagged NFATc1 expressed in virus infected primary human skeletal muscle myoblasts after 3 hrs by DAPI staining based assay | ec50 | 0.3100 | uM |
| 1-(2-cyclopropylethyl)-3-pyridin-4-ylpyrrolo[2,3-c]pyridine | 1478838: Induction of nuclear translocation of human GFP-tagged NFATc1 expressed in virus infected primary human skeletal muscle myoblasts after 3 hrs by DAPI staining based assay | ec50 | 1.5900 | uM |
| 1-methyl-3-pyridin-4-ylpyrrolo[2,3-c]pyridine | 1478838: Induction of nuclear translocation of human GFP-tagged NFATc1 expressed in virus infected primary human skeletal muscle myoblasts after 3 hrs by DAPI staining based assay | ec50 | 2.2100 | uM |
| 3-pyridin-4-yl-1H-pyrrolo[2,3-c]pyridine | 1478838: Induction of nuclear translocation of human GFP-tagged NFATc1 expressed in virus infected primary human skeletal muscle myoblasts after 3 hrs by DAPI staining based assay | ec50 | 2.9800 | uM |
| N-[2-[2-chloro-5-[(4-chlorophenyl)sulfamoyl]anilino]-2-oxoethyl]-5-methylthiophene-2-carboxamide | 1874118: Inhibition of NFATC activity in HEK293T cells preincubated for 2 hrs followed by ionomycin/phorbol 12-myristate 13-acetate stimulation and measured after 4 hrs by luciferase reporter assay | ic50 | 4.5000 | uM |
| 4-(1H-pyrrolo[2,3-c]pyridin-3-yl)pyrimidin-2-amine | 1478838: Induction of nuclear translocation of human GFP-tagged NFATc1 expressed in virus infected primary human skeletal muscle myoblasts after 3 hrs by DAPI staining based assay | ec50 | 4.8000 | uM |
| 3-(2-fluoro-4-pyridinyl)-1H-pyrrolo[2,3-c]pyridine | 1478838: Induction of nuclear translocation of human GFP-tagged NFATc1 expressed in virus infected primary human skeletal muscle myoblasts after 3 hrs by DAPI staining based assay | ec50 | 4.8500 | uM |
| 3-(3-chloro-4-pyridinyl)-1H-pyrrolo[2,3-c]pyridine | 1478838: Induction of nuclear translocation of human GFP-tagged NFATc1 expressed in virus infected primary human skeletal muscle myoblasts after 3 hrs by DAPI staining based assay | ec50 | 5.3100 | uM |
| 1-(2-methoxyethyl)-3-pyridin-4-ylpyrrolo[2,3-c]pyridine | 1478838: Induction of nuclear translocation of human GFP-tagged NFATc1 expressed in virus infected primary human skeletal muscle myoblasts after 3 hrs by DAPI staining based assay | ec50 | 6.9000 | uM |
| 4-[3-(3-pyridin-4-ylpyrrolo[2,3-c]pyridin-1-yl)propyl]morpholine | 1478838: Induction of nuclear translocation of human GFP-tagged NFATc1 expressed in virus infected primary human skeletal muscle myoblasts after 3 hrs by DAPI staining based assay | ec50 | 6.9600 | uM |
| 1-[(4-fluorophenyl)methyl]-3-pyridin-4-ylpyrrolo[2,3-c]pyridine | 1478838: Induction of nuclear translocation of human GFP-tagged NFATc1 expressed in virus infected primary human skeletal muscle myoblasts after 3 hrs by DAPI staining based assay | ec50 | 7.5800 | uM |
| 4-(7-methoxy-1H-indol-3-yl)pyrimidin-2-amine | 1478838: Induction of nuclear translocation of human GFP-tagged NFATc1 expressed in virus infected primary human skeletal muscle myoblasts after 3 hrs by DAPI staining based assay | ec50 | 9.8000 | uM |
CTD chemical–gene interactions
72 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, affects methylation, increases expression, increases methylation | 6 |
| Benzo(a)pyrene | affects methylation, decreases expression, increases methylation | 3 |
| Tobacco Smoke Pollution | affects methylation, decreases expression | 3 |
| sodium arsenite | affects localization, decreases reaction, increases abundance, affects expression, decreases phosphorylation (+2 more) | 2 |
| perfluorooctane sulfonic acid | affects expression, decreases expression | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Calcimycin | affects cotreatment, increases expression, increases reaction, affects localization, decreases expression (+1 more) | 2 |
| Resveratrol | decreases expression, decreases reaction, increases expression, affects cotreatment | 2 |
| Arsenic | affects methylation, decreases methylation | 2 |
| Silicon Dioxide | decreases expression, increases expression | 2 |
| Tetradecanoylphorbol Acetate | affects localization, decreases expression, decreases reaction, affects cotreatment, increases expression (+1 more) | 2 |
| Cyclosporine | decreases reaction, decreases expression, affects localization, decreases activity, affects cotreatment | 2 |
| GSK-J4 | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| GW 506033X | increases reaction, decreases reaction, increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bis(tri-n-butyltin)oxide | affects localization | 1 |
| bisphenol A | decreases methylation, affects cotreatment, increases methylation | 1 |
| deoxynivalenol | affects localization | 1 |
| diphenyleneiodonium | affects localization, decreases reaction, increases abundance | 1 |
| alpha-naphthoflavone | affects localization, decreases reaction | 1 |
| arsenite | affects localization, decreases reaction, increases abundance | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| ochratoxin A | increases acetylation, increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| 4-hydroxy-2-nonenal | decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| cupric oxide | increases expression | 1 |
| acetovanillone | affects localization, decreases reaction, increases abundance | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
ChEMBL screening assays
15 unique, capped per target: 15 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1687116 | Binding | Effect on NFATc1 in HEK293 nuclear extract at 50 uM after 15 mins by EMSA assay | Identification of new GATA4-small molecule inhibitors by structure-based virtual screening. — *Bioorg Med Chem* |
Cellosaurus cell lines
11 cell lines: 7 cancer cell line, 3 embryonic stem cell, 1 induced pluripotent stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A4M1 | SEES3-1V human NFATC1, clone1 | Embryonic stem cell | Male |
| CVCL_A4M2 | SEES3-1V human NFATC1, clone2 | Embryonic stem cell | Male |
| CVCL_A4M3 | SEES3-1V human NFATC1, clone3 | Embryonic stem cell | Male |
| CVCL_B1YL | Abcam HeLa NFATC1 KO | Cancer cell line | Female |
| CVCL_B8LF | Abcam HCT 116 NFATC1 KO | Cancer cell line | Male |
| CVCL_B9NL | Abcam A-549 NFATC1 KO | Cancer cell line | Male |
| CVCL_C1NN | NCHi001-A | Induced pluripotent stem cell | Female |
| CVCL_D2GP | Abcam MCF-7 NFATC1 KO | Cancer cell line | Female |
| CVCL_E0IX | Ubigene HeLa NFATC1 KO | Cancer cell line | Female |
| CVCL_TA56 | HAP1 NFATC1 (-) 1 | Cancer cell line | Male |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
showing 60 of 300 trials:
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00668824 | Phase 4 | UNKNOWN | Improved Diagnosis of Congenital Heart Disease by Magnetic Resonance Imaging Using Vasovist |
| NCT01368705 | Phase 4 | COMPLETED | Nitrogen Balance in Infants After Post Cardiothoracic Surgery |
| NCT01619982 | Phase 4 | COMPLETED | Pre-operative Prophylaxis With Vancomycin and Cefazolin in Pediatric Cardiovascular Surgery Patients |
| NCT02122679 | Phase 4 | WITHDRAWN | Tranexamic Acid Effect on Platelet Aggregation Following Infant Cardiopulmonary Bypass |
| NCT02527811 | Phase 4 | UNKNOWN | Ulinastatin Injection in in Pediatric Patients Undergoing Open Heart Surgery |
| NCT03014700 | Phase 4 | COMPLETED | Fibrinogen Concentrate vs Cryoprecipitate |
| NCT03408340 | Phase 4 | TERMINATED | Paravertebral Nerve Blocks in Neonates |
| NCT03630796 | Phase 4 | UNKNOWN | Effect of Sevoflurane in Postoperative Troponin I Levels in Children Undergoing Congenital Heart Defects Surgery |
| NCT03667703 | Phase 4 | COMPLETED | Stress Ulcer Prophylaxis Versus Placebo in Critically Ill Infants With Congenital Heart Disease |
| NCT04453761 | Phase 4 | UNKNOWN | Thiamine Influenced on Substrate Energy Effectiveness in Indonesian Children Undergoing Cardiopulmonary Bypass |
| NCT06668389 | Phase 4 | RECRUITING | Sodium-Glucose Cotransporter 2 Inhibitors for Repaired Tetralogy of Fallot Patients for Enhancement of Cardio-Pulmonary Status Trial |
| NCT07499154 | Phase 4 | NOT_YET_RECRUITING | Perioperative Lidocaine for Lung Protection in Infants Undergoing Cardiac Surgery |
| NCT00000470 | Phase 3 | COMPLETED | Infant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest |
| NCT00000494 | Phase 3 | COMPLETED | Management of Patent Ductus in Premature Infants |
| NCT01134302 | Phase 3 | UNKNOWN | Hybrid Versus Norwood Management Strategies in Infants Undergoing Single Ventricle Palliation |
| NCT01607983 | Phase 3 | WITHDRAWN | Effects of Pulmonary Vasodilation Upon VA Coupling in Fontan Patients |
| NCT01662011 | Phase 3 | UNKNOWN | Application of Neurally Adjusted Ventilatory Assist to Children After Congenital Cardiac Surgery |
| NCT02320669 | Phase 3 | COMPLETED | Phase 3 Triiodothyronine Supplementation for Infants After Cardiopulmonary Bypass |
| NCT02615262 | Phase 3 | COMPLETED | Intraoperative Dexamethasone in Pediatric Cardiac Surgery |
| NCT03153137 | Phase 3 | COMPLETED | Clinical Study Assessing the Efficacy and Safety of Macitentan in Fontan-palliated Subjects |
| NCT03154476 | Phase 3 | COMPLETED | Role of Sildenafil for Fontan Associated Liver Disease (SiFALD) Study |
| NCT04536194 | Phase 3 | COMPLETED | Dopamine Versus Norepinephrine Under General Anesthesia |
| NCT04702373 | Phase 3 | UNKNOWN | Training in Exercise Activities and Motion for Growth (TEAM 4 Growth) RCT |
| NCT05049590 | Phase 3 | COMPLETED | Acute Normovolemic Hemodilution in Complex Cardiac Surgery |
| NCT06406517 | Phase 3 | UNKNOWN | Comparative Effectiveness of Gadopiclenol for Evaluation of Adult Congenital Heart Anatomy and Hemodynamics |
| NCT06693674 | Phase 3 | RECRUITING | Effect of Sacubitril-Valsartan on Cardiac Structure and Function |
| NCT06955260 | Phase 3 | RECRUITING | SGLT2 Inhibition With Empagliflozin in Fontan Circulatory Failure |
| NCT00115375 | Phase 2 | COMPLETED | Platelet Aggregation Inhibition in Children on Clopidogrel (PICOLO) |
| NCT00350220 | Phase 2 | COMPLETED | Transfusion Strategies in Pediatric Cardiothoracic Surgery |
| NCT00374088 | Phase 2 | COMPLETED | N-Acetylcysteine in Neonatal Congenital Heart Surgery (INACT Study) |
| NCT00538785 | Phase 2 | COMPLETED | A Study to Evaluate MEDI-524 In Children With Hemodynamically Significant Congenital Heart Disease |
| NCT00770705 | Phase 2 | WITHDRAWN | Parenteral Phenoxybenzamine During Congenital Heart Disease Surgery |
| NCT00919945 | Phase 2 | TERMINATED | Impact of Early Enteral Feeding on Splanchnic Blood Flow After Surgery for Critical Heart Disease in the Newborn |
| NCT01063712 | Phase 2 | COMPLETED | Safety and Effectiveness of the Device Nit-Occlud® PDA-R |
| NCT01069510 | Phase 2 | COMPLETED | Spironolactone in Adult Congenital Heart Disease |
| NCT01189981 | Phase 2 | COMPLETED | Effect of eHealth Encouragements to Intensive Exercise in Adolescents With Congenital Heart Disease |
| NCT01330433 | Phase 2 | COMPLETED | Effects of CoSeal on Bleeding & Adhesions in Pediatric Heart Surgery |
| NCT01662037 | Phase 2 | COMPLETED | Bosentan Therapy in Children With Functional Single Ventricle |
| NCT01668264 | Phase 2 | UNKNOWN | Imaging Assessment of Diastolic Function |
| NCT01827059 | Phase 2 | UNKNOWN | Bosentan In Exercise Induced Pulmonary Arterial Hypertension in CongenitaL Heart diseasE |
| NCT01841177 | Phase 2 | COMPLETED | Evaluating Precision of Therapy - Milrinone |
| NCT02046135 | Phase 2 | TERMINATED | Sodium Bicarbonate to Prevent Acute Kidney Injury in Children Undergoing Cardiac Surgery |
| NCT02133573 | Phase 2 | COMPLETED | Randomized Trial of Maternal Progesterone Therapy |
| NCT02232399 | Phase 2 | COMPLETED | Is Levosimendan Superior to Milrinone Regarding Acute Kidney Injury After Cardiac Surgery for Congenital Heart Disease? |
| NCT02492269 | Phase 2 | COMPLETED | Stress Response and Neurodevelopmental Outcome After Cardiac Surgery Utilizing CPB in Children: A Prospective, Double Blinded and Randomized Study |
| NCT02564796 | Phase 2 | TERMINATED | Erythropoietin to Prevent Unnecessary Transfusions In Patients With Cyanotic CHD - A Prospective Control Trial |
| NCT02618824 | Phase 2 | UNKNOWN | Role of Terminal Warm Blood Cardioplegia as Myocardial Protection in the Use of Histidine-Tryptophan-Ketoglutarate Cardioplegia in Complex Congenital Heart Surgery |
| NCT02769624 | Phase 2 | TERMINATED | Acute Effects of Inhaled Treprostinil in Fontan Patients |
| NCT02877238 | Phase 2 | COMPLETED | Remote Preconditioning and Myocardial Protection |
| NCT03082716 | Phase 2 | COMPLETED | Custodiol Versus Blood Cardioplegaia in Paediatric Cardiac Surgery |
| NCT03425734 | Phase 2 | UNKNOWN | The Effect of Dexmedetomidine on Kidney Perfusion in Paediatric Patients |
| NCT04434001 | Phase 2 | TERMINATED | ZEPLAST- PED: ZEro_PLASma Trial in Small Infants Undergoing Cardiac Surgery |
| NCT04807621 | Phase 2 | UNKNOWN | Platelets or Fibrinogen as First-line Treatment for Bleeding During Pedatric Heart Surgery |
| NCT05717049 | Phase 2 | COMPLETED | Theophylline Effects in the Fontan Circulation |
| NCT06080074 | Phase 2 | RECRUITING | Multicenter Trial of ECMO in Children With Severe Cardiac Failure Using the Cardiohelp System |
| NCT07498803 | Phase 2 | NOT_YET_RECRUITING | Sota-ES - Sotatercept in Patients With Congenital Heart Disease and Eisenmenger´s Syndrome |
| NCT01698567 | Phase 1 | TERMINATED | Antithrombin III in Infants With Cardiopulmonary Bypass (CPB) |
| NCT02549625 | Phase 1 | COMPLETED | Phase I Safety and Feasibility Study of Intracoronary Delivery of Autologous Bone Marrow Derived Mononuclear Cells |
| NCT03417999 | Phase 1 | TERMINATED | Pharmacokinetic Study of Intranasal Dexmedetomidine in Pediatric Patients With Congenital Heart Disease |
| NCT03946462 | Phase 1 | WITHDRAWN | Nitric Oxide During CPB to Reduce AKI in Neonates |
Predicted chemistry — Sugi Predict
The predicted patent-compound landscape for NFATC1 across ~30M SureChEMBL compounds — explore on Sugi Predict.
Related Atlas pages
- Associated diseases: congenital heart disease, inborn error of immunity
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): chromosome 18q deletion syndrome, congenital heart disease, inborn error of immunity
- Pharmacogenomically associated drugs (drugs whose metabolism/response is associated with variants in this gene (PharmGKB) — not drugs that target it): Mycophenolic Acid