NFATC2
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Also known as NF-ATPNFATpNFAT1
Summary
NFATC2 (nuclear factor of activated T cells 2, HGNC:7776) is a protein-coding gene on chromosome 20q13.2, encoding Nuclear factor of activated T-cells, cytoplasmic 2 (Q13469). Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2, IL-3, IL-4, TNF or GM-CSF.
This gene is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is a DNA-binding protein with a REL-homology region (RHR) and an NFAT-homology region (NHR). This protein is present in the cytosol and only translocates to the nucleus upon T cell receptor (TCR) stimulation, where it becomes a member of the nuclear factors of activated T cells transcription complex. This complex plays a central role in inducing gene transcription during the immune response. Alternate transcriptional splice variants encoding different isoforms have been characterized.
Source: NCBI Gene 4773 — RefSeq curated summary.
At a glance
- Gene–disease (curated): lymphoproliferative syndrome (Moderate, GenCC) — +2 more curated relationships
- GWAS associations: 25
- Clinical variants (ClinVar): 147 total — 1 likely-pathogenic
- Phenotypes (HPO): 12
- Cancer driver (intOGen): activating (oncogene-like) across 2 cancer types
- Transcription factor: yes — 98 downstream targets (CollecTRI)
- MANE Select transcript:
NM_012340
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7776 |
| Approved symbol | NFATC2 |
| Name | nuclear factor of activated T cells 2 |
| Location | 20q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NF-ATP, NFATp, NFAT1 |
| Ensembl gene | ENSG00000101096 |
| Ensembl biotype | protein_coding |
| OMIM | 600490 |
| Entrez | 4773 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 7 protein_coding, 1 retained_intron
ENST00000371564, ENST00000396009, ENST00000414705, ENST00000496054, ENST00000609507, ENST00000609943, ENST00000610033, ENST00000875252
RefSeq mRNA: 8 — MANE Select: NM_012340
NM_001136021, NM_001258292, NM_001258294, NM_001258295, NM_001258296, NM_001258297, NM_012340, NM_173091
CCDS: CCDS13437, CCDS33488, CCDS46614, CCDS68156, CCDS68157
Canonical transcript exons
ENST00000371564 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000662707 | 51435188 | 51435314 |
| ENSE00000662708 | 51435706 | 51435761 |
| ENSE00000662709 | 51454548 | 51454688 |
| ENSE00000662710 | 51473980 | 51474152 |
| ENSE00000662711 | 51475458 | 51475660 |
| ENSE00000662712 | 51516784 | 51516955 |
| ENSE00000662713 | 51523081 | 51524110 |
| ENSE00001374118 | 51398643 | 51398730 |
| ENSE00001455516 | 51432067 | 51432756 |
| ENSE00001455518 | 51542370 | 51542719 |
| ENSE00003677652 | 51386963 | 51391451 |
Expression profiles
Bgee: expression breadth ubiquitous, 230 present calls, max score 96.62.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.0061 / max 249.8081, expressed in 1243 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 187932 | 8.8804 | 868 |
| 187934 | 2.7658 | 593 |
| 187936 | 0.1264 | 54 |
| 187933 | 0.1251 | 65 |
| 187935 | 0.0590 | 27 |
| 187931 | 0.0495 | 22 |
Top tissues by expression
251 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| vena cava | UBERON:0004087 | 96.62 | gold quality |
| synovial joint | UBERON:0002217 | 93.56 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 92.71 | gold quality |
| oviduct epithelium | UBERON:0004804 | 91.43 | gold quality |
| nipple | UBERON:0002030 | 90.62 | gold quality |
| buccal mucosa cell | CL:0002336 | 90.21 | gold quality |
| pylorus | UBERON:0001166 | 90.03 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 89.97 | gold quality |
| cartilage tissue | UBERON:0002418 | 89.65 | gold quality |
| saphenous vein | UBERON:0007318 | 89.47 | gold quality |
| upper arm skin | UBERON:0004263 | 89.28 | gold quality |
| trachea | UBERON:0003126 | 89.16 | gold quality |
| urethra | UBERON:0000057 | 88.18 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 86.71 | gold quality |
| granulocyte | CL:0000094 | 86.53 | gold quality |
| cardia of stomach | UBERON:0001162 | 86.13 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 86.08 | gold quality |
| mammary duct | UBERON:0001765 | 85.99 | gold quality |
| mammalian vulva | UBERON:0000997 | 85.38 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 85.38 | gold quality |
| lymph node | UBERON:0000029 | 85.18 | gold quality |
| parotid gland | UBERON:0001831 | 85.17 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 84.85 | silver quality |
| jejunal mucosa | UBERON:0000399 | 84.64 | gold quality |
| penis | UBERON:0000989 | 84.62 | gold quality |
| ileal mucosa | UBERON:0000331 | 84.08 | silver quality |
| secondary oocyte | CL:0000655 | 83.68 | gold quality |
| jejunum | UBERON:0002115 | 83.58 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 82.71 | gold quality |
| tendon | UBERON:0000043 | 82.39 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.02 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
98 targets.
| Target | Regulation |
|---|---|
| ABCA1 | Activation |
| ACP5 | |
| APOBEC3G | Activation |
| APP | |
| ATM | |
| BACE1 | |
| CBX3 | |
| CCL5 | Activation |
| CCNA2 | Unknown |
| CCR9 | |
| CD28 | |
| CD34 | |
| CD3E | |
| CD3G | Repression |
| CD4 | Activation |
| CD40 | |
| CD40LG | Unknown |
| CDK4 | Repression |
| CFLAR | |
| CIITA | |
| CREBBP | |
| CSF2 | Activation |
| CTLA4 | |
| CX3CR1 | |
| CXCL8 | |
| EGR3 | Unknown |
| ENPP2 | Unknown |
| ENTPD2 | Unknown |
| FASLG | |
| FGF2 |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0152.1 | NFATC2 | NFAT-related factors |
JASPAR matrix evidence (PMIDs): PMID:17916232
Upstream regulators (CollecTRI, top): HMGA1, MBD2, NFATC2, NFKB, RUNX2, SP1, SP2, STAT5A, TCF3
miRNA regulators (miRDB)
207 targeting NFATC2, 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-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
Literature-anchored findings (GeneRIF, showing 40)
- Recombinant NFATp binds DNA on its own and cooperatively with AP-1 proteins, activates transcription in vitro, is phosphorylated, can be dephosphorylated by calcineurin, and exhibits regulated association with nuclei in vitro. (PMID:11231878)
- 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)
- NF-ATc2 induces apoptosis in Burkitt’s lymphoma cells through signaling via the B cell antigen receptor (PMID:12594826)
- Differential responsiveness of cord blood T cells cannot be attributed to differences at the level of NFAT1 expression. (PMID:14657699)
- sumoylation has a dual role in the nuclear localization and transcriptional activation of NFAT1 (PMID:15117942)
- identify a conserved docking site for casein kinase 1 (CK1) in NFAT proteins and show that mutation of this site disrupts NFAT1-CK1 interaction and causes constitutive nuclear localization of NFAT1 (PMID:15121840)
- Nuclear factor of activated T cells balances angiogenesis activation and inhibition. (PMID:15184502)
- role in activating interleukin-5 receptor (PMID:15271374)
- These results suggest a novel and unexpected role for members of the NFAT transcription factor family in the hematopoietic system. (PMID:15292278)
- Interleukin (IL)-15 and IL-2 reciprocally regulate expression of the chemokine receptor CX3CR1 through selective NFAT1- and NFAT2-dependent mechanisms (PMID:15347678)
- the nuclear factor of activated T cell-dependent transactivation pathway has a role in viral protein A238L inhibition of cyclooxygenase-2 expression (PMID:15471864)
- 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)
- CAML is an important signal transducer for the actions of Ang II in regulating the calcineurin-NFAT pathway and the interaction of CAML with ATRAP may mediate the Ang II actions in vascular physiology (PMID:15668245)
- NFAT and SRF may interact to cooperatively regulate smooth muscle cell-specific gene expression and NFAT may have a role in the phenotypic maintenance of smooth muscle (PMID:15857835)
- alpha6beta4 integrin potentiates autotaxin expression through the upregulation and activation of NFAT1. (PMID:15897878)
- NFATc2 activity is regulated by caspase-3 (PMID:16455648)
- NFKB and NFAT regulate BLyS expression via at least one NFKB and 2 NFAT BLYS promoter binding sites. Constitutive activation of NFKB and BLyS in NHL-B cells forms a positive feedback loop associated with lymphoma cell survival and proliferation (PMID:16497967)
- NFAT promotes breast cancer cell invasion through the induction of COX-2 and the synthesis of prostaglandins (PMID:16505480)
- results indicate that HIV-1 Tat interacts with NFAT, affecting its cooperation with AP-1, without altering independent binding of these transcription factors to DNA (PMID:16690925)
- Studies with NFAT1-sufficient and -deficient double-transgenic bone marrow chimeric mice demonstrate that the transcription factor NFAT1 is involved in B cell anergy. (PMID:16849457)
- Constitutive expression of NFAT1/NFATc2 in transgenic mice controls bone resorption in vivo by stimulating differentiation and functioning of osteoclasts but not their survival. (PMID:16888000)
- 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)
- Ral is activated upon BCR stimulation and mediates BCR-controlled activation of AP-1 and NFAT transcription factors. (PMID:17237388)
- the amount of NF-ATc2 bound to the promoters of CD154 (CD40L) and IL-2 genes in SLE; although high NF-ATc2 levels translated into higher CD154 transcription in SLE, IL-2 transcription was decreased (PMID:17237447)
- MAP3K8 and PRKCZ cooperate in the regulation of the transcriptional activity of NFATC2 through the phosphorylation of its amino-terminal domain. (PMID:17398070)
- NFAT1 could explain low FOXP3 expression and diminished Treg frequency in aplastic anemia. (PMID:17463169)
- NFAT1 mediates proinflammatory gene expression in response to mechanotransduction (PMID:17584983)
- Changes in AP-1 composition and the level of participating NFAT proteins can differentially influence cytokine gene expression, resulting in biological consequences for the modulation and dynamics of the immune response. (PMID:17588603)
- the WIP-WASP complex plays an important role in WASP stabilization and NFAT activation (PMID:17711847)
- NFAT1 is a critical regulator of CTLA-4 gene expression that binds to the CTLA-4 promoter in human T cells. (PMID:17785820)
- O-GlcNAc modification might be required for nuclear translocation of the transcription factors NFkappaB and NFAT (PMID:17882263)
- 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)
- study found that Homer2 and Homer3 are negative regulators of T cell activation; this is achieved through binding of nuclear factor of activated T cells (NFAT) and by competing with calcineurin (PMID:18218901)
- Unexpected coupling of PML with NFAT reveals a novel mechanism underlying the diverse physiological functions of promyelocytic leukemia. (PMID:18246125)
- accumulation of HIF-1alpha in activated mast cells requires up-regulation of HIF1A gene transcription and depends on the calcineurin-NFAT signaling pathway (PMID:18641302)
- NFAT and MyoD cooperation regulates myogenin expression and myogenesis (PMID:18676376)
- NFATc2 has a role in colitis by controlling mucosal T cell activation in an IL-6-dependent manner (PMID:18710929)
- Normalization of the constitutive VEGFR2 signaling in hemangioma endothelial cells with soluble VEGFR1 or antibodies that neutralize VEGF or stimulate beta1 integrin (PMID:18931684)
- our results establish crucial roles for enhancer element CNS-9, and NFAT1 and IRF4 that bind to it, for IL-10 expression in differential T helper subsets. (PMID:18962896)
- Children with type 1 diabetes show decreased insudtion of MFATc2 in T cells. (PMID:18973208)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nfatc2a | ENSDARG00000100927 |
| mus_musculus | Nfatc2 | ENSMUSG00000027544 |
| rattus_norvegicus | Nfatc2 | ENSRNOG00000012175 |
Paralogs (4): NFATC3 (ENSG00000072736), NFATC4 (ENSG00000100968), NFAT5 (ENSG00000102908), NFATC1 (ENSG00000131196)
Protein
Protein identifiers
Nuclear factor of activated T-cells, cytoplasmic 2 — Q13469 (reviewed: Q13469)
Alternative names: NFAT pre-existing subunit, T-cell transcription factor NFAT1
All UniProt accessions (1): Q13469
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, IL-3, IL-4, TNF or GM-CSF. Promotes invasive migration through the activation of GPC6 expression and WNT5A signaling pathway. Is involved in the negative regulation of chondrogenesis. Recruited by AKAP5 to ORAI1 pore-forming subunit of CRAC channels in Ca(2+) signaling microdomains where store-operated Ca(2+) influx is coupled to calmodulin and calcineurin signaling and activation of NFAT-dependent transcriptional responses.
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. The phosphorylated form specifically interacts with XPO1; which mediates nuclear export. NFATC proteins bind to DNA as monomers. Interacts with NFATC2IP. Interacts with FOXP3. Interacts with TBX21 (‘Thr-303’ phosphorylated form). Interacts with KAT2A. Interacts with HOMER2 and HOMER3; this interaction competes with calcineurin/PPP3CA-binding and hence prevents NFATC2 dephosphorylation and activation. Interacts with protein phosphatase PPP3CA/calcineurin A. Interacts with AKAP5 (via leucine zipper domain); this is required for NFATC2/NFAT1 recruitment to CRAC channels.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Expressed in thymus, spleen, heart, testis, brain, placenta, muscle and pancreas. Isoform 1 is highly expressed in the small intestine, heart, testis, prostate, thymus, placenta and thyroid. Isoform 3 is highly expressed in stomach, uterus, placenta, trachea and thyroid.
Post-translational modifications. In resting cells, phosphorylated by NFATC-kinase on at least 18 sites in the 99-363 region. Upon cell stimulation, all these sites except Ser-243 are dephosphorylated by calcineurin. Dephosphorylation induces a conformational change that simultaneously exposes an NLS and masks an NES, which results in nuclear localization. Simultaneously, Ser-53 or Ser-56 is phosphorylated; which is required for full transcriptional activity. Ubiquitinated in endothelial cells by RNF213 downstream of the non-canonical Wnt signaling pathway, leading to its degradation by the proteasome.
Disease relevance. Joint contractures, osteochondromas, and B-cell lymphoma (JCOSL) [MIM:620232] An autosomal recessive disorder characterized by musculoskeletal and hematopoietic issues. Affected individuals develop painless fixed joint contractures in early childhood, have osteochondromas, osteopenia, and can develop B-cell lymphomas. The disease may be caused by variants affecting the gene represented in this entry.
Domain organisation. The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors. Rel Similarity Domain (RSD) allows DNA-binding and cooperative interactions with AP1 factors.
Induction. 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.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q13469-1 | 1, C, NFATc2_IB_IIL | yes |
| Q13469-2 | 2, B | |
| Q13469-3 | 3, NFATc2_IA_IIL | |
| Q13469-4 | 4 | |
| Q13469-5 | 5 |
RefSeq proteins (8): NP_001129493, NP_001245221, NP_001245223, NP_001245224, NP_001245225, NP_001245226, NP_036472, NP_775114 (=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 (90 total): modified residue 30, strand 28, region of interest 7, short sequence motif 4, helix 4, repeat 3, compositionally biased region 3, splice variant 3, turn 3, chain 1, domain 1, DNA-binding region 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
12 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8R3F | X-RAY DIFFRACTION | 1.55 |
| 8R07 | X-RAY DIFFRACTION | 1.74 |
| 1P7H | X-RAY DIFFRACTION | 2.6 |
| 1A02 | X-RAY DIFFRACTION | 2.7 |
| 2AS5 | X-RAY DIFFRACTION | 2.7 |
| 8OW4 | X-RAY DIFFRACTION | 2.75 |
| 3QRF | X-RAY DIFFRACTION | 2.8 |
| 9VRQ | X-RAY DIFFRACTION | 2.8 |
| 1OWR | X-RAY DIFFRACTION | 3 |
| 2O93 | X-RAY DIFFRACTION | 3.05 |
| 1PZU | X-RAY DIFFRACTION | 3.1 |
| 1S9K | X-RAY DIFFRACTION | 3.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q13469-F1 | 57.69 | 0.27 |
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 (30): 23, 99, 107, 110, 148, 168, 171, 172, 174, 175, 177, 180, 213, 217, 221, 236, 243, 255, 268, 274 …
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-5607763 | CLEC7A (Dectin-1) induces NFAT activation |
| R-HSA-8877330 | RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) |
| R-HSA-9976102 | Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells) |
MSigDB gene sets: 404 (showing top):
GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, BIOCARTA_FMLP_PATHWAY, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_CARTILAGE_DEVELOPMENT, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_B_CELL_ACTIVATION, GOBP_NEGATIVE_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_SMOOTH_MUSCLE_CELL_DIFFERENTIATION, KEGG_MAPK_SIGNALING_PATHWAY, GOBP_SMOOTH_MUSCLE_CELL_DIFFERENTIATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION
GO Biological Process (20): regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), transcription by RNA polymerase II (GO:0006366), DNA damage response (GO:0006974), response to xenobiotic stimulus (GO:0009410), positive regulation of gene expression (GO:0010628), myotube cell development (GO:0014904), cell migration (GO:0016477), positive regulation of B cell proliferation (GO:0030890), calcineurin-NFAT signaling cascade (GO:0033173), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), B cell receptor signaling pathway (GO:0050853), cartilage development (GO:0051216), cellular response to calcium ion (GO:0071277), lncRNA transcription (GO:0140742), positive regulation of myoblast fusion (GO:1901741), negative regulation of vascular associated smooth muscle cell differentiation (GO:1905064), negative regulation of transcription by RNA polymerase II (GO:0000122), gene expression (GO:0010467)
GO Molecular Function (14): 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 repressor activity, RNA polymerase II-specific (GO:0001227), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677), chromatin binding (GO:0003682), DNA-binding transcription factor activity (GO:0003700), phosphatase binding (GO:0019902), molecular adaptor activity (GO:0060090), 14-3-3 protein binding (GO:0071889), sequence-specific double-stranded DNA binding (GO:1990837), transcription cis-regulatory region binding (GO:0000976), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565)
GO Cellular Component (8): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription regulator complex (GO:0005667), cytoplasm (GO:0005737), cytosol (GO:0005829), transcription factor AP-1 complex (GO:0035976), ribonucleoprotein complex (GO:1990904)
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 |
| CLEC7A (Dectin-1) signaling | 1 |
| Transcriptional regulation by RUNX1 | 1 |
| Differentiation of T cells | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA-templated transcription | 4 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 4 |
| cellular anatomical structure | 4 |
| regulation of DNA-templated transcription | 3 |
| transcription by RNA polymerase II | 3 |
| regulation of transcription by RNA polymerase II | 3 |
| binding | 3 |
| regulation of gene expression | 2 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 2 |
| protein-containing complex | 2 |
| regulation of RNA biosynthetic process | 1 |
| cellular response to stress | 1 |
| response to chemical | 1 |
| gene expression | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| myotube differentiation | 1 |
| striated muscle cell development | 1 |
| cell motility | 1 |
| regulation of B cell proliferation | 1 |
| B cell proliferation | 1 |
| positive regulation of lymphocyte proliferation | 1 |
| positive regulation of B cell activation | 1 |
| calcineurin-mediated signaling | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| positive regulation of DNA-templated transcription | 1 |
| antigen receptor-mediated signaling pathway | 1 |
| skeletal system development | 1 |
| animal organ development | 1 |
| connective tissue development | 1 |
| response to calcium ion | 1 |
| cellular response to metal ion | 1 |
| myoblast fusion | 1 |
| positive regulation of syncytium formation by plasma membrane fusion | 1 |
| regulation of myoblast fusion | 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 |
| negative regulation of DNA-templated transcription | 1 |
| macromolecule biosynthetic process | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
Protein interactions and networks
STRING
2242 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NFATC2 | JUN | P05412 | 942 |
| NFATC2 | FOS | P01100 | 937 |
| NFATC2 | CREB1 | P16220 | 930 |
| NFATC2 | SMAD3 | P84022 | 925 |
| NFATC2 | RELA | Q04206 | 879 |
| NFATC2 | FOXP3 | Q9BZS1 | 843 |
| NFATC2 | CALM1 | P02593 | 778 |
| NFATC2 | CALML3 | P27482 | 778 |
| NFATC2 | CALML5 | Q9NZT1 | 778 |
| NFATC2 | CALML6 | Q8TD86 | 772 |
| NFATC2 | CALML4 | Q96GE6 | 772 |
| NFATC2 | PPP3R1 | P06705 | 759 |
| NFATC2 | IL2 | P01585 | 758 |
| NFATC2 | NFATC1 | O95644 | 747 |
| NFATC2 | HDAC1 | Q13547 | 743 |
IntAct
48 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FOS | JUN | psi-mi:“MI:2364”(proximity) | 0.980 |
| JUN | NFATC1 | psi-mi:“MI:0914”(association) | 0.610 |
| VRK2 | NFATC2 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.610 |
| VRK2 | NFATC2 | psi-mi:“MI:0915”(physical association) | 0.610 |
| NFATC2 | VRK2 | psi-mi:“MI:0915”(physical association) | 0.610 |
| VRK2 | NFATC2 | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| LRRK2 | PSMD11 | psi-mi:“MI:0914”(association) | 0.600 |
| FOXP2 | psi-mi:“MI:0407”(direct interaction) | 0.590 | |
| NFATC2 | psi-mi:“MI:0914”(association) | 0.590 | |
| FOXP2 | psi-mi:“MI:0914”(association) | 0.590 | |
| FOXP2 | psi-mi:“MI:0915”(physical association) | 0.590 | |
| PPP3CA | NFATC2 | psi-mi:“MI:0407”(direct interaction) | 0.560 |
| NFATC2 | LRRK2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| IL2 | NFATC2 | psi-mi:“MI:0914”(association) | 0.530 |
| NFATC2 | IL2 | psi-mi:“MI:0914”(association) | 0.530 |
| NFATC2 | psi-mi:“MI:0915”(physical association) | 0.500 | |
| NFATC2 | psi-mi:“MI:0914”(association) | 0.500 | |
| NFATC2 | CREB1 | psi-mi:“MI:0915”(physical association) | 0.500 |
| NFATC2 | NFATC2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| NFATC2 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| NFATC2 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| NFATC2 | USP22 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (234): HCVgp1 (Reconstituted Complex), NFATC2 (Reconstituted Complex), NFATC2 (Affinity Capture-MS), NFATC2 (Affinity Capture-MS), IKZF1 (Affinity Capture-Western), JUN (Affinity Capture-Western), RPTOR (Affinity Capture-Western), CREB1 (Affinity Capture-Western), EP300 (Affinity Capture-Western), FOS (Affinity Capture-Western), CHEK1 (Affinity Capture-Western), SCAI (Affinity Capture-Western), IKZF2 (Affinity Capture-Western), GSK3B (Affinity Capture-Western), RUNX1 (Affinity Capture-Western)
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
91 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| NFATC2 | up-regulates | MEF2A | binding |
| NFATC2 | up-regulates | MEF2D | binding |
| MAPK8 | down-regulates | NFATC2 | phosphorylation |
| MAPK9 | down-regulates | NFATC2 | phosphorylation |
| PPP3CA | up-regulates | NFATC2 | dephosphorylation |
| GSK3B | down-regulates | NFATC2 | phosphorylation |
| VRK2 | up-regulates | NFATC2 | phosphorylation |
| PPP3CB | up-regulates | NFATC2 | dephosphorylation |
| PPP3CC | up-regulates | NFATC2 | dephosphorylation |
| NFATC2 | “up-regulates quantity by expression” | MYOG | “transcriptional regulation” |
| PPP3CB | “up-regulates activity” | NFATC2 | dephosphorylation |
| PPP3CC | “up-regulates activity” | NFATC2 | dephosphorylation |
Disease & clinical
Cancer significance
From intOGen — cancer-driver classification: activating (oncogene-like) across 2 cancer types — PAAD, READ.
Clinical variants and AI predictions
ClinVar
147 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 116 |
| Likely benign | 8 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1693111 | NM_012340.5(NFATC2):c.*71T>G | Likely pathogenic |
SpliceAI
2871 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:51435182:CCTTA:C | donor_loss | 1.0000 |
| 20:51435183:CTTAC:C | donor_loss | 1.0000 |
| 20:51435184:TTAC:T | donor_loss | 1.0000 |
| 20:51435185:TA:T | donor_loss | 1.0000 |
| 20:51435186:ACCTG:A | donor_loss | 1.0000 |
| 20:51435187:CCTGG:C | donor_gain | 1.0000 |
| 20:51435311:TGTT:T | acceptor_gain | 1.0000 |
| 20:51435688:G:C | donor_gain | 1.0000 |
| 20:51435704:A:AC | donor_gain | 1.0000 |
| 20:51435705:C:CC | donor_gain | 1.0000 |
| 20:51435705:CGGG:C | donor_gain | 1.0000 |
| 20:51454684:CTGGG:C | acceptor_gain | 1.0000 |
| 20:51454685:TGGG:T | acceptor_gain | 1.0000 |
| 20:51454688:GC:G | acceptor_loss | 1.0000 |
| 20:51454689:C:CC | acceptor_gain | 1.0000 |
| 20:51454690:T:G | acceptor_loss | 1.0000 |
| 20:51473979:CAGCA:C | donor_gain | 1.0000 |
| 20:51475456:A:AC | donor_gain | 1.0000 |
| 20:51475457:C:CC | donor_gain | 1.0000 |
| 20:51475656:TGGAG:T | acceptor_gain | 1.0000 |
| 20:51475657:GGAG:G | acceptor_gain | 1.0000 |
| 20:51475658:GAG:G | acceptor_gain | 1.0000 |
| 20:51475659:AG:A | acceptor_gain | 1.0000 |
| 20:51475659:AGCT:A | acceptor_loss | 1.0000 |
| 20:51475661:C:CC | acceptor_gain | 1.0000 |
| 20:51475662:T:C | acceptor_loss | 1.0000 |
| 20:51475664:G:GC | acceptor_gain | 1.0000 |
| 20:51516778:CCATA:C | donor_loss | 1.0000 |
| 20:51516779:CATAC:C | donor_loss | 1.0000 |
| 20:51516780:ATAC:A | donor_loss | 1.0000 |
AlphaMissense
5976 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:51435197:A:C | Y675D | 1.000 |
| 20:51435202:A:G | F673S | 1.000 |
| 20:51435216:A:C | S668R | 1.000 |
| 20:51435216:A:T | S668R | 1.000 |
| 20:51435218:T:G | S668R | 1.000 |
| 20:51435241:A:T | V660D | 1.000 |
| 20:51435301:A:T | V640D | 1.000 |
| 20:51435747:A:G | W622R | 1.000 |
| 20:51435747:A:T | W622R | 1.000 |
| 20:51454565:A:G | F611S | 1.000 |
| 20:51454571:A:T | V609D | 1.000 |
| 20:51454589:A:G | F603S | 1.000 |
| 20:51454598:C:A | G600V | 1.000 |
| 20:51454598:C:T | G600E | 1.000 |
| 20:51454599:C:A | G600W | 1.000 |
| 20:51454599:C:G | G600R | 1.000 |
| 20:51454599:C:T | G600R | 1.000 |
| 20:51454604:A:G | L598P | 1.000 |
| 20:51454604:A:T | L598H | 1.000 |
| 20:51454658:A:T | V580D | 1.000 |
| 20:51454664:G:C | P578R | 1.000 |
| 20:51454664:G:T | P578H | 1.000 |
| 20:51454684:C:A | Q571H | 1.000 |
| 20:51454684:C:G | Q571H | 1.000 |
| 20:51473981:G:C | C569W | 1.000 |
| 20:51473982:C:T | C569Y | 1.000 |
| 20:51473983:A:G | C569R | 1.000 |
| 20:51473988:A:T | I567N | 1.000 |
| 20:51473997:G:A | S564F | 1.000 |
| 20:51473997:G:T | S564Y | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000004679 (20:51400380 C>A), RS1000014784 (20:51563201 T>C), RS1000027112 (20:51404557 A>G), RS1000052732 (20:51525369 A>G), RS1000081362 (20:51433067 C>T), RS1000094108 (20:51486484 C>G,T), RS1000101324 (20:51553880 C>G), RS1000135593 (20:51443449 T>G), RS1000135999 (20:51436181 G>A), RS1000172720 (20:51409535 C>T), RS1000188095 (20:51447098 T>A,G), RS1000228980 (20:51447368 G>A), RS1000239730 (20:51518435 C>T), RS1000241461 (20:51400087 A>C), RS1000244849 (20:51453534 T>C)
Disease associations
OMIM: gene MIM:600490 | disease phenotypes: MIM:115200, MIM:620232
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| lymphoproliferative syndrome | Moderate | Autosomal recessive |
| joint contractures, osteochondromas, and B-cell lymphoma | Limited | Autosomal recessive |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| congenital heart disease | Disputed | AD |
Mondo (3): dilated cardiomyopathy 1A (MONDO:0007269), joint contractures, osteochondromas, and B-cell lymphoma (MONDO:0859369), lymphoproliferative syndrome (MONDO:0016537)
Orphanet (1): Familial dilated cardiomyopathy with conduction defect due to LMNA mutation (Orphanet:300751)
HPO phenotypes
12 total (12 of 12 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002953 | Vertebral compression fracture |
| HP:0003273 | Hip contracture |
| HP:0004349 | Reduced bone mineral density |
| HP:0006380 | Knee flexion contracture |
| HP:0006466 | Ankle flexion contracture |
| HP:0008445 | Cervical spinal canal stenosis |
| HP:0008940 | Generalized lymphadenopathy |
| HP:0011463 | Childhood onset |
| HP:0012191 | B-cell lymphoma |
| HP:0030080 | Burkitt lymphoma |
| HP:0030431 | Osteochondroma |
GWAS associations
25 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002083_34 | Self-reported allergy | 7.000000e-09 |
| GCST002114_4 | Molar-incisor hypomineralization | 5.000000e-06 |
| GCST002337_24 | Amyotrophic lateral sclerosis (sporadic) | 5.000000e-06 |
| GCST002682_15 | Tourette’s syndrome or obsessive-compulsive disorder | 8.000000e-06 |
| GCST002843_17 | Sitting height ratio | 8.000000e-10 |
| GCST002915_2 | Asparaginase hypersensitivity in acute lymphoblastic leukemia | 4.000000e-08 |
| GCST004600_113 | Eosinophil percentage of white cells | 7.000000e-09 |
| GCST004624_72 | Sum eosinophil basophil counts | 4.000000e-09 |
| GCST004993_1 | White matter microstructure in first episode schizophrenia (right anterior cingulate cortex) | 1.000000e-07 |
| GCST005038_54 | Allergic disease (asthma, hay fever or eczema) | 1.000000e-12 |
| GCST006409_28 | Allergic rhinitis | 5.000000e-08 |
| GCST006624_125 | Systolic blood pressure | 4.000000e-17 |
| GCST007847_93 | Type 2 diabetes | 2.000000e-09 |
| GCST007928_10 | Medication use (diuretics) | 2.000000e-10 |
| GCST007929_85 | Medication use (calcium channel blockers) | 1.000000e-08 |
| GCST007930_27 | Medication use (agents acting on the renin-angiotensin system) | 4.000000e-08 |
| GCST008152_62 | Weight | 2.000000e-06 |
| GCST008163_272 | Height | 1.000000e-06 |
| GCST009674_2 | Urinary uric acid excretion | 4.000000e-06 |
| GCST010042_143 | Asthma | 3.000000e-09 |
| GCST010118_79 | Type 2 diabetes | 7.000000e-10 |
| GCST90002381_254 | Eosinophil count | 6.000000e-12 |
| GCST90002382_533 | Eosinophil percentage of white cells | 2.000000e-14 |
| GCST90002388_583 | Lymphocyte count | 4.000000e-09 |
| GCST90020024_806 | A body shape index | 5.000000e-08 |
EFO canonical traits (15, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005321 | molar-incisor hypomineralization |
| EFO:0007118 | sitting height ratio |
| EFO:0004881 | asparaginase hypersensitivity |
| EFO:0007991 | eosinophil percentage of leukocytes |
| EFO:0004842 | eosinophil count |
| EFO:0005090 | basophil count |
| EFO:0005674 | white matter microstructure measurement |
| EFO:0006335 | systolic blood pressure |
| EFO:0009928 | Diuretic use measurement |
| EFO:0009930 | Calcium channel blocker use measurement |
| EFO:0009931 | Agents acting on the renin-angiotensin system use measurement |
| EFO:0004338 | body weight |
| EFO:0004761 | uric acid measurement |
| EFO:0004587 | lymphocyte count |
| EFO:0007789 | BMI-adjusted waist circumference |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008232 | Lymphoproliferative Disorders | C15.604.515; C20.683.515 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs6021191 | Toxicity | 3 | asparaginase | Acute lymphoblastic leukemia |
PharmGKB variants
3 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs3787186 | NFATC2 | 0.00 | 0 | ||
| rs6021191 | NFATC2 | 3 | 3.00 | 1 | asparaginase |
| rs6123048 | NFATC2 | 0.00 | 0 |
CTD chemical–gene interactions
72 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, increases methylation | 4 |
| Calcimycin | increases reaction, decreases phosphorylation, increases activity, decreases reaction, affects cotreatment (+1 more) | 3 |
| Tetradecanoylphorbol Acetate | affects binding, increases expression, affects cotreatment, increases activity, affects localization (+3 more) | 3 |
| bisphenol A | affects cotreatment, decreases methylation, increases expression, affects reaction, decreases expression | 2 |
| arsenite | decreases reaction, increases methylation, affects binding | 2 |
| sodium arsenite | affects methylation, increases expression | 2 |
| Arsenic | affects methylation, increases expression | 2 |
| Benzo(a)pyrene | decreases methylation, affects methylation | 2 |
| Cisplatin | affects cotreatment, decreases expression | 2 |
| GSK-J4 | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| 2,5,2’,5’-tetrachlorobiphenyl | decreases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| 11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid | affects methylation, increases abundance | 1 |
| fisetin | decreases reaction, increases activity | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| hydroquinone | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| N-(4-hydroxyphenyl)arachidonylamide | decreases activity | 1 |
| entinostat | increases expression | 1 |
| bisperoxovanadium | affects localization, affects binding, increases reaction, affects reaction, increases expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Rosiglitazone | affects response to substance | 1 |
Cellosaurus cell lines
5 cell lines: 5 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B7YG | Abcam Raji NFATC2 KO | Cancer cell line | Male |
| CVCL_B8LG | Abcam HCT 116 NFATC2 KO | Cancer cell line | Male |
| CVCL_B8ZG | Abcam MCF-7 NFATC2 KO | Cancer cell line | Female |
| CVCL_B9NM | Abcam A-549 NFATC2 KO | Cancer cell line | Male |
| CVCL_E0IY | Ubigene HeLa NFATC2 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
106 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00033475 | PHASE3 | COMPLETED | Reduced Immunosuppressive Therapy With or Without Donor White Blood Cells in Treating Patients With Lymphoproliferative Disease After Organ Transplantation |
| NCT00053053 | PHASE3 | COMPLETED | Comparison of Nutritional Supplements in Preventing Weight Loss in Patients With Cancer |
| NCT00058331 | PHASE3 | COMPLETED | Epoetin Alfa in Treating Anemia in Patients With Solid Tumors |
| NCT00070382 | PHASE3 | COMPLETED | Darbepoetin Alfa Compared With Epoetin Alfa in Treating Anemia in Patients Receiving Chemotherapy for Cancer |
| NCT00516503 | PHASE3 | COMPLETED | Baclofen-Amitriptyline Hydrochloride-Ketamine Gel in Treating Peripheral Neuropathy Caused by Chemotherapy in Patients With Cancer |
| NCT00661999 | PHASE3 | COMPLETED | Darbepoetin Alfa With or Without Iron in Treating Anemia Caused By Chemotherapy in Patients With Cancer |
| NCT00666211 | PHASE3 | COMPLETED | Opioid Titration Order Sheet or Standard Care in Treating Patients With Cancer Pain |
| NCT00719563 | PHASE3 | COMPLETED | American Ginseng in Treating Patients With Fatigue Caused by Cancer |
| NCT00750009 | PHASE3 | COMPLETED | Personalized Information or Basic Information in Helping Patients Make Decisions About Participating in a Clinical Trial |
| NCT03394365 | PHASE3 | RECRUITING | A Phase 3 Study of Tabelecleucel for Participants With Epstein-Barr Virus-Associated Post-Transplant Lymphoproliferative Disease After Failure With Rituximab or Rituximab and Chemotherapy |
| NCT05431179 | PHASE3 | WITHDRAWN | A Study of Zilovertamab and Ibrutinib in Patients With Relapsed or Refractory Mantle Cell Lymphoma |
| NCT00001379 | PHASE2 | COMPLETED | Treatment and Natural History Study of Lymphomatoid Granulomatosis |
| NCT00001438 | PHASE2 | COMPLETED | A Pilot Study of the Combination of Retinoic Acid and Interferon-Alpha2a for the Treatment of Lymphoproliferative Disorders in Children With Immunodeficiency Syndromes |
| NCT00066469 | PHASE2 | COMPLETED | Cyclophosphamide, Rituximab, and Either Prednisone or Methylprednisolone in Treating Patients With Lymphoproliferative Disease After Solid Organ Transplantation |
| NCT00092222 | PHASE2 | ACTIVE_NOT_RECRUITING | Virotherapy and Natural History Study of KHSV-Associated Multricentric Castleman s Disease With Correlates of Disease Activity |
| NCT00255749 | PHASE2 | COMPLETED | Epoetin Alfa in Treating Patients With Anemia Who Are Undergoing Chemotherapy for Cancer |
| NCT00387530 | PHASE2 | WITHDRAWN | Phenylbutyrate and Valganciclovir in Treating Patients With Relapsed or Refractory Epstein-Barr Virus-Positive Cancer |
| NCT00416624 | PHASE2 | COMPLETED | Epoetin Alfa or Darbepoetin Alfa in Treating Patients With Anemia Caused by Chemotherapy |
| NCT00436618 | PHASE2 | COMPLETED | Everolimus in Treating Patients With Lymphoma That Has Relapsed or Not Responded to Previous Treatment |
| NCT00621036 | PHASE2 | WITHDRAWN | Vaccine Therapy and GM-CSF in Treating Patients With CNS Lymphoma |
| NCT00869323 | PHASE2 | TERMINATED | Bortezomib and Rituximab in Treating Patients With Post-Transplant Lymphoproliferative Disorders |
| NCT00992732 | PHASE2 | TERMINATED | Study of HQK-1004 and Valganciclovir to Treat Epstein-Barr Virus (EBV) - Positive Lymphoid Malignancies or Lymphoproliferative Disorders |
| NCT01116232 | PHASE2 | TERMINATED | Sirolimus, Tacrolimus, Thymoglobulin and Rituximab as Graft-versus-Host-Disease Prophylaxis in Patients Undergoing Haploidentical and HLA Partially Matched Donor Hematopoietic Cell Transplantation |
| NCT01118013 | PHASE2 | TERMINATED | Donor Stem Cell Transplant in Treating Patients With Relapsed Hematologic Malignancies or Secondary Myelodysplasia Previously Treated With High-Dose Chemotherapy and Autologous Stem Cell Transplant |
| NCT02579967 | PHASE2 | RECRUITING | Pilot Trial of Allogeneic Blood or Marrow Transplantation for Primary Immunodeficiencies |
| NCT02861417 | PHASE2 | ACTIVE_NOT_RECRUITING | Busulfan, Fludarabine Phosphate, and Post-Transplant Cyclophosphamide in Treating Patients With Blood Cancer Undergoing Donor Stem Cell Transplant |
| NCT03258567 | PHASE2 | RECRUITING | Nivolumab in Epstein-Barr Virus (EBV)-Positive Lymphoproliferative Disorders and EBV-Positive Non-HodgkinLymphomas |
| NCT03373019 | PHASE2 | UNKNOWN | Chidamide Combined With R-GDP in Treating Patients With Relapsed or Refractory Diffuse Large B-cell Lymphoma (DLBCL) |
| NCT03663933 | PHASE2 | ACTIVE_NOT_RECRUITING | Allogeneic Hematopoietic Cell Transplantation for Disorders of T-cell Proliferation and/or Dysregulation |
| NCT03744676 | PHASE2 | COMPLETED | A Safety Trial of Lisocabtagene Maraleucel (JCAR017) for Relapsed and Refractory (R/R) B-cell Non-Hodgkin Lymphoma (NHL) in the Outpatient Setting (TRANSCEND-OUTREACH-007) |
| NCT03922724 | PHASE2 | RECRUITING | Allogeneic Hematopoietic Cell Transplantation for Peripheral T Cell Lymphoma |
| NCT04339777 | PHASE2 | RECRUITING | Allogeneic Hematopoietic Stem Cell Transplant for Patients With Inborn Errors of Immunity |
| NCT04463615 | PHASE2 | COMPLETED | Leflunomide for the Treatment of Relapsed or Refractory CD30+ Lymphoproliferative Disorders |
| NCT04554914 | PHASE2 | ACTIVE_NOT_RECRUITING | A Study to Evaluate Tabelecleucel in Participants With Epstein Barr Virus (EBV) Associated Diseases |
| NCT04858256 | PHASE2 | RECRUITING | Pacritinib in Relapsed/Refractory T-cell Lymphoproliferative Neoplasms |
| NCT04883437 | PHASE2 | RECRUITING | Acalabrutinib and Obinutuzumab for the Treatment of Previously Untreated Follicular Lymphoma or Other Indolent Non-Hodgkin Lymphomas |
| NCT00002153 | PHASE1 | COMPLETED | Topical Use of 4,4’-Dihydroxybenzophenone-2,4-Dinitrophenylhydrazone (A-007) in the Treatment of Advanced Malignancies Including Kaposi’s Sarcoma and Lymphoproliferative Disorders |
| NCT00013689 | PHASE1 | COMPLETED | Pyrimethamine and Sulfadoxine for Treatment of Autoimmune Lymphoproliferative Syndrome |
| NCT00028418 | PHASE1 | COMPLETED | Clofarabine in Chronic Lymphocytic Leukemia |
| NCT00058604 | PHASE1 | COMPLETED | Prevention and Treatment of Epstein-Barr Virus (EBV) Lymphoma Following a Solid Organ Transplant Using EBV Specific Cytotoxic T Lymphocytes (CTLs). |
Related Atlas pages
- Associated diseases: joint contractures, osteochondromas, and B-cell lymphoma, lymphoproliferative syndrome, congenital heart disease
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): dilated cardiomyopathy 1A, joint contractures, osteochondromas, and B-cell lymphoma, lymphoproliferative syndrome