NFATC1

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
• Clinical variants (ClinVar): 399 total — 2 pathogenic
• Druggable target: yes
• Transcription factor: yes — 131 downstream targets (CollecTRI)
• MANE Select transcript: NM_001278669

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: 18 — 11 protein_coding, 4 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000253506, ENST00000318065, ENST00000329101, ENST00000397790, ENST00000427363, ENST00000542384, ENST00000545796, ENST00000586434, ENST00000586695, ENST00000587635, ENST00000590172, ENST00000590224, ENST00000590313, ENST00000590861, ENST00000591065, ENST00000591089, ENST00000591814, ENST00000592223

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.

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

280 total, 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

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

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

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)

14 targeting NFATC1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

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

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)

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): O95644, F5H4S8, K7EQ04, K7ER53

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 (56 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, chain 1, domain 1, DNA-binding region 1, helix 1, turn 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
5SVE	X-RAY DIFFRACTION	2.6
1A66	SOLUTION NMR
1NFA	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95644-F1	57.66	0.24

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): 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

5 pathways

ID	Pathway
R-HSA-2025928	Calcineurin activates NFAT
R-HSA-2871809	FCERI mediated Ca+2 mobilization
R-HSA-4086398	Ca2+ pathway
R-HSA-5607763	CLEC7A (Dectin-1) induces NFAT activation
R-HSA-9942503	Differentiation of naive CD4+ T cells to T helper 1 cells (Th1 cells)

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 (10): aortic valve morphogenesis (GO:0003180), pulmonary valve morphogenesis (GO:0003184), 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

Rollup of top-5 pathways:

Category	Pathways
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

GO top-level categories

Rollup of top GO terms by namespace:

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
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

Protein interactions and networks

STRING

2876 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NFATC1	SP7	Q8TDD2	955
NFATC1	ACP5	P13686	953
NFATC1	JUN	P05412	948
NFATC1	TNFSF11	O14788	942
NFATC1	FOS	P01100	928
NFATC1	CTSK	P43235	898
NFATC1	DCSTAMP	Q9H295	885
NFATC1	PPP3CA	Q08209	851
NFATC1	SPI1	P17947	840
NFATC1	DYRK1A	Q13627	817
NFATC1	RCAN1	P53805	789
NFATC1	CALM1	P02593	786
NFATC1	CALML6	Q8TD86	786
NFATC1	CALML3	P27482	786
NFATC1	CALML5	Q9NZT1	786
NFATC1	CALML4	Q96GE6	786

IntAct

62 interactions, top by confidence:

A	B	Type	Score
PPP3CA	NFATC1	psi-mi:“MI:0915”(physical association)	0.720
PPP3CA	NFATC1	psi-mi:“MI:0407”(direct interaction)	0.720
JUN	NFATC1	psi-mi:“MI:0915”(physical association)	0.610
JUN	NFATC1	psi-mi:“MI:0914”(association)	0.610
CREB1	NFATC1	psi-mi:“MI:0915”(physical association)	0.580
ATF1	NFATC1	psi-mi:“MI:0915”(physical association)	0.580
PPP3CC	NFATC1	psi-mi:“MI:0914”(association)	0.530
NFATC1	PPP3CC	psi-mi:“MI:0914”(association)	0.530
HOXC13	NFATC1	psi-mi:“MI:0915”(physical association)	0.500
ATF3	NFATC1	psi-mi:“MI:0915”(physical association)	0.500
ATF2	NFATC1	psi-mi:“MI:0915”(physical association)	0.500
NFATC1	OGT	psi-mi:“MI:0915”(physical association)	0.500
OGT	NFATC1	psi-mi:“MI:0914”(association)	0.500
NFATC1	SMARCA4	psi-mi:“MI:2364”(proximity)	0.480
SMARCA4	NFATC1	psi-mi:“MI:2364”(proximity)	0.480
NFATC1	TP53	psi-mi:“MI:2364”(proximity)	0.480
JAK3	NFATC1	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
NFATC1	Ppp3cb	psi-mi:“MI:0203”(dephosphorylation reaction)	0.440
	NFATC1	psi-mi:“MI:0915”(physical association)	0.400
NFATC1		psi-mi:“MI:0915”(physical association)	0.400
NFATC1	YWHAZ	psi-mi:“MI:0915”(physical association)	0.400
IFNL1	NFATC1	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (209): NFATC1 (Affinity Capture-Western), EP300 (Affinity Capture-Western), NFATC1 (Affinity Capture-MS), NFATC1 (Affinity Capture-MS), NFATC1 (Affinity Capture-MS), JUN (Affinity Capture-MS), HOXD13 (Affinity Capture-MS), CREB1 (Affinity Capture-MS), HIST1H2BA (Affinity Capture-MS), HIST1H2BC (Affinity Capture-MS), HIST3H3 (Affinity Capture-MS), ATF3 (Affinity Capture-MS), TP53 (Affinity Capture-MS), CHD4 (Affinity Capture-MS), ZMYM3 (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2JTY4, A2VD01, A5PMU4, A8E4V2, D2HNW6, E1BEQ5, O54972, O95644, P16236, P59281, P70365, P97305, Q12968, Q13191, Q13469, Q13905, Q15788, Q1LY51, Q2VPU4, Q3LRZ1, Q3TTA7, Q3U182, Q4PJW2, Q4VCS5, Q60591, Q61122, Q66IV1, Q68FF7, Q6DFR2, Q6GQL0, Q6NYU6, Q6ZNC4, Q80TM6, Q80VG1, Q8HWS3, Q8IXK0, Q8IY63, Q8K4S7, Q8N228, Q8VHG2

Diamond homologs: A0A0G2JTY4, D3Z9H7, D3ZGB1, O77638, O88942, O94916, O95644, P97305, P98201, Q12968, Q13469, Q14934, Q60591, Q8K120, Q9WV30

SIGNOR signaling

49 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

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 38 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	8	16.0×	1e-05
RAF/MAP kinase cascade	6	11.4×	6e-04
PIP3 activates AKT signaling	5	10.4×	1e-03
Cytokine Signaling in Immune system	8	10.2×	1e-04
Diseases of signal transduction by growth factor receptors and second messengers	5	8.9×	2e-03
Signaling by Receptor Tyrosine Kinases	5	8.1×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of miRNA transcription	6	48.4×	1e-06
transforming growth factor beta receptor signaling pathway	6	26.5×	1e-05
positive regulation of ERK1 and ERK2 cascade	6	14.2×	2e-04
transcription by RNA polymerase II	6	11.8×	5e-04
protein stabilization	5	9.3×	3e-03
negative regulation of apoptotic process	9	8.7×	8e-05
positive regulation of gene expression	8	8.6×	2e-04
DNA damage response	5	7.4×	7e-03

Disease & clinical

Clinical variants and AI predictions

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)

Variant ID	HGVS	Classification
1807794	GRCh37/hg19 18q22.1-23(chr18:66530142-78014123)x1	Pathogenic
2500799	GRCh37/hg19 18q22.1-23(chr18:66459747-78012829)x1	Pathogenic

SpliceAI

5231 predictions. Top by Δscore:

Variant	Effect	Δscore
18:79410398:TCTAG:T	acceptor_loss	1.0000
18:79410399:CTAGA:C	acceptor_loss	1.0000
18:79410400:TAG:T	acceptor_loss	1.0000
18:79410401:AG:A	acceptor_loss	1.0000
18:79433737:AG:A	donor_loss	1.0000
18:79433738:GG:G	donor_loss	1.0000
18:79433739:G:GA	donor_loss	1.0000
18:79433740:T:G	donor_loss	1.0000
18:79448776:C:A	acceptor_gain	1.0000
18:79448777:GCCA:G	acceptor_loss	1.0000
18:79448778:CCAG:C	acceptor_loss	1.0000
18:79448779:CAGC:C	acceptor_loss	1.0000
18:79448780:A:AC	acceptor_loss	1.0000
18:79448780:A:AG	acceptor_gain	1.0000
18:79448780:AGCT:A	acceptor_gain	1.0000
18:79448781:G:GA	acceptor_gain	1.0000
18:79448781:GC:G	acceptor_gain	1.0000
18:79448781:GCT:G	acceptor_gain	1.0000
18:79448781:GCTG:G	acceptor_gain	1.0000
18:79448781:GCTGC:G	acceptor_gain	1.0000
18:79448980:GCCGT:G	donor_gain	1.0000
18:79448981:CCGT:C	donor_gain	1.0000
18:79448982:CGTGT:C	donor_loss	1.0000
18:79448983:GT:G	donor_gain	1.0000
18:79448983:GTGTA:G	donor_loss	1.0000
18:79448985:G:GG	donor_gain	1.0000
18:79448985:GT:G	donor_loss	1.0000
18:79450947:T:A	acceptor_gain	1.0000
18:79450948:G:A	acceptor_gain	1.0000
18:79450952:A:AG	acceptor_gain	1.0000

AlphaMissense

6075 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:79433635:T:A	L428H	1.000
18:79433635:T:C	L428P	1.000
18:79433653:C:A	P434H	1.000
18:79433664:C:G	H438D	1.000
18:79433667:C:G	R439G	1.000
18:79433671:C:A	A440D	1.000
18:79433676:T:C	Y442H	1.000
18:79433677:A:G	Y442C	1.000
18:79433688:G:C	G446R	1.000
18:79433688:G:T	G446C	1.000
18:79433689:G:A	G446D	1.000
18:79433689:G:T	G446V	1.000
18:79433691:A:C	S447R	1.000
18:79433693:C:A	S447R	1.000
18:79433693:C:G	S447R	1.000
18:79433695:G:C	R448P	1.000
18:79433697:G:A	G449R	1.000
18:79433697:G:C	G449R	1.000
18:79433697:G:T	G449W	1.000
18:79433698:G:A	G449E	1.000
18:79433728:C:A	P459H	1.000
18:79448816:T:C	L474P	1.000
18:79448824:T:C	F477L	1.000
18:79448825:T:C	F477S	1.000
18:79448826:C:A	F477L	1.000
18:79448826:C:G	F477L	1.000
18:79448830:G:A	G479R	1.000
18:79448830:G:C	G479R	1.000
18:79448830:G:T	G479W	1.000
18:79448831:G:A	G479E	1.000

dbSNP variants (sampled 300 via entrez): RS1000010442 (18:79514078 T>C), RS1000088986 (18:79513174 C>T), RS1000109074 (18:79484396 C>G), RS1000121598 (18:79513024 C>T), RS1000133343 (18:79426779 G>A,T), RS1000162663 (18:79438442 T>C), RS1000179544 (18:79476613 C>T), RS1000212362 (18:79480724 G>C), RS1000214418 (18:79438597 G>A,T), RS1000230581 (18:79510162 C>G,T), RS1000279056 (18:79426180 A>G), RS1000281333 (18:79452278 C>T), RS1000323922 (18:79504055 A>C,G), RS1000350879 (18:79418506 C>T), RS1000364828 (18:79406951 A>C)

Disease associations

OMIM: gene MIM:600489 | disease phenotypes: MIM:601808

GenCC curated gene-disease

Disease	Classification	Inheritance
inborn error of immunity	Moderate	Autosomal recessive
congenital heart disease	Disputed Evidence	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
congenital heart disease	Disputed	AD

Mondo (3): chromosome 18q deletion syndrome (MONDO:0011147), congenital heart disease (MONDO:0005453), inborn error of immunity (MONDO:0003778)

Orphanet (2): Monosomy 18q syndrome (Orphanet:1600), Partial deletion of the long arm of chromosome 18 syndrome (Orphanet:262146)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

59 associations (top):

Study	Trait	p-value
GCST003043_79	Inflammatory bowel disease	1.000000e-08
GCST003044_88	Crohn’s disease	9.000000e-09
GCST003401_12	Glomerular filtration rate in non diabetics (creatinine)	1.000000e-09
GCST003790_24	Glomerular filtration rate	1.000000e-08
GCST004070_22	Cerebrospinal P-tau181p levels	5.000000e-10
GCST004292_37	Glomerular filtration rate (creatinine)	4.000000e-10
GCST004599_137	Mean platelet volume	8.000000e-15
GCST005537_38	Chronic inflammatory diseases (ankylosing spondylitis, Crohn’s disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy)	1.000000e-07
GCST005984_43	Glomerular filtration rate	9.000000e-25
GCST005985_7	Creatinine levels	1.000000e-25
GCST005986_29	Blood urea nitrogen levels	6.000000e-09
GCST006288_368	Heel bone mineral density	6.000000e-06
GCST006288_668	Heel bone mineral density	2.000000e-11
GCST006288_69	Heel bone mineral density	7.000000e-07
GCST006392_3	Estimated glomerular filtration rate	2.000000e-11
GCST006393_3	Serum creatinine levels	3.000000e-11
GCST006951_28	Feeling hurt	3.000000e-08
GCST006979_733	Heel bone mineral density	5.000000e-12
GCST006979_734	Heel bone mineral density	2.000000e-14
GCST007344_71	Estimated glomerular filtration rate	2.000000e-28
GCST007448_2	Normal facial asymmetry (angle of surface orientation score)	4.000000e-13
GCST007448_20	Normal facial asymmetry (angle of surface orientation score)	3.000000e-10
GCST007876_72	Estimated glomerular filtration rate	8.000000e-45
GCST007877_21	Creatinine levels	4.000000e-13
GCST007916_2	Hyperuricemia	2.000000e-16
GCST007917_1	Estimated glomerular filtration rate	2.000000e-16
GCST007919_11	Creatinine levels	2.000000e-16
GCST007920_6	Chronic kidney disease	2.000000e-16
GCST007932_89	Medication use (thyroid preparations)	1.000000e-09
GCST007935_8	Medication use (drugs affecting bone structure and mineralization)	7.000000e-10

EFO canonical traits (17, from GWAS)

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 (3)

Descriptor	Name	Tree numbers
D006330	Heart Defects, Congenital	C14.240.400; C14.280.400; C16.131.240.400
D007153	Immunologic Deficiency Syndromes	C20.673
C536580	Chromosome 18 deletion syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3876 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

4 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs1017860	NFATC1		0.00	0
rs8090560	NFATC1		0.00	0
rs3894049	NFATC1		0.00	0
rs2280055	NFATC1		0.00	0

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 reaction, affects localization, decreases reaction, increases abundance, affects expression (+2 more)	2
perfluorooctane sulfonic acid	affects expression, decreases expression	2
entinostat	increases expression, affects cotreatment	2
Calcimycin	decreases reaction, affects cotreatment, increases expression, increases reaction, affects localization (+1 more)	2
Resveratrol	affects cotreatment, decreases expression, decreases reaction, increases expression	2
Arsenic	affects methylation, decreases methylation	2
Silicon Dioxide	decreases expression, increases expression	2
Tetradecanoylphorbol Acetate	increases reaction, affects localization, decreases expression, decreases reaction, affects cotreatment (+1 more)	2
Cyclosporine	affects localization, decreases activity, affects cotreatment, decreases reaction, decreases expression	2
GSK-J4	increases expression	1
FR900359	affects phosphorylation	1
GW 506033X	decreases reaction, increases expression, increases reaction	1
triphenyl phosphate	affects expression	1
bis(tri-n-butyltin)oxide	affects localization	1
bisphenol A	increases methylation, decreases methylation, affects cotreatment	1
deoxynivalenol	affects localization	1
diphenyleneiodonium	affects localization, decreases reaction, increases abundance	1
alpha-naphthoflavone	affects localization, decreases reaction	1
arsenite	decreases reaction, increases abundance, affects localization	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)

300 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00668824	PHASE4	UNKNOWN	Improved Diagnosis of Congenital Heart Disease by Magnetic Resonance Imaging Using Vasovist
NCT01368705	PHASE4	COMPLETED	Nitrogen Balance in Infants After Post Cardiothoracic Surgery
NCT01619982	PHASE4	COMPLETED	Pre-operative Prophylaxis With Vancomycin and Cefazolin in Pediatric Cardiovascular Surgery Patients
NCT02122679	PHASE4	WITHDRAWN	Tranexamic Acid Effect on Platelet Aggregation Following Infant Cardiopulmonary Bypass
NCT02527811	PHASE4	UNKNOWN	Ulinastatin Injection in in Pediatric Patients Undergoing Open Heart Surgery
NCT03014700	PHASE4	COMPLETED	Fibrinogen Concentrate vs Cryoprecipitate
NCT03408340	PHASE4	TERMINATED	Paravertebral Nerve Blocks in Neonates
NCT03630796	PHASE4	UNKNOWN	Effect of Sevoflurane in Postoperative Troponin I Levels in Children Undergoing Congenital Heart Defects Surgery
NCT03667703	PHASE4	COMPLETED	Stress Ulcer Prophylaxis Versus Placebo in Critically Ill Infants With Congenital Heart Disease
NCT04453761	PHASE4	UNKNOWN	Thiamine Influenced on Substrate Energy Effectiveness in Indonesian Children Undergoing Cardiopulmonary Bypass
NCT06668389	PHASE4	RECRUITING	Sodium-Glucose Cotransporter 2 Inhibitors for Repaired Tetralogy of Fallot Patients for Enhancement of Cardio-Pulmonary Status Trial
NCT07499154	PHASE4	NOT_YET_RECRUITING	Perioperative Lidocaine for Lung Protection in Infants Undergoing Cardiac Surgery
NCT00000470	PHASE3	COMPLETED	Infant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest
NCT00000494	PHASE3	COMPLETED	Management of Patent Ductus in Premature Infants
NCT01134302	PHASE3	UNKNOWN	Hybrid Versus Norwood Management Strategies in Infants Undergoing Single Ventricle Palliation
NCT01607983	PHASE3	WITHDRAWN	Effects of Pulmonary Vasodilation Upon VA Coupling in Fontan Patients
NCT01662011	PHASE3	UNKNOWN	Application of Neurally Adjusted Ventilatory Assist to Children After Congenital Cardiac Surgery
NCT02320669	PHASE3	COMPLETED	Phase 3 Triiodothyronine Supplementation for Infants After Cardiopulmonary Bypass
NCT02615262	PHASE3	COMPLETED	Intraoperative Dexamethasone in Pediatric Cardiac Surgery
NCT03153137	PHASE3	COMPLETED	Clinical Study Assessing the Efficacy and Safety of Macitentan in Fontan-palliated Subjects
NCT03154476	PHASE3	COMPLETED	Role of Sildenafil for Fontan Associated Liver Disease (SiFALD) Study
NCT04536194	PHASE3	COMPLETED	Dopamine Versus Norepinephrine Under General Anesthesia
NCT04702373	PHASE3	ACTIVE_NOT_RECRUITING	Training in Exercise Activities and Motion for Growth (TEAM 4 Growth) RCT
NCT05049590	PHASE3	COMPLETED	Acute Normovolemic Hemodilution in Complex Cardiac Surgery
NCT06406517	PHASE3	UNKNOWN	Comparative Effectiveness of Gadopiclenol for Evaluation of Adult Congenital Heart Anatomy and Hemodynamics
NCT06693674	PHASE3	RECRUITING	Effect of Sacubitril-Valsartan on Cardiac Structure and Function
NCT06955260	PHASE3	NOT_YET_RECRUITING	SGLT2 Inhibition With Empagliflozin in Fontan Circulatory Failure
NCT00115375	PHASE2	COMPLETED	Platelet Aggregation Inhibition in Children on Clopidogrel (PICOLO)
NCT00350220	PHASE2	COMPLETED	Transfusion Strategies in Pediatric Cardiothoracic Surgery
NCT00374088	PHASE2	COMPLETED	N-Acetylcysteine in Neonatal Congenital Heart Surgery (INACT Study)
NCT00538785	PHASE2	COMPLETED	A Study to Evaluate MEDI-524 In Children With Hemodynamically Significant Congenital Heart Disease
NCT00770705	PHASE2	WITHDRAWN	Parenteral Phenoxybenzamine During Congenital Heart Disease Surgery
NCT00919945	PHASE2	TERMINATED	Impact of Early Enteral Feeding on Splanchnic Blood Flow After Surgery for Critical Heart Disease in the Newborn
NCT01063712	PHASE2	COMPLETED	Safety and Effectiveness of the Device Nit-Occlud® PDA-R
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