NFATC2
Nuclear Factor of Activated T Cells 2
Gene Information Card
| Symbol | NFATC2 |
|---|---|
| Full Name | Nuclear Factor of Activated T Cells 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.2 |
| NCBI Gene ID | 4773 ncbi.nlm.nih.gov/gene/4773 |
| Ensembl ID | ENSG00000101096 |
| UniProt ID | Q13469 |
| OMIM ID | 600490 |
| HGNC ID | 7776 |
| Aliases | NFAT1, NFATP |
Description
NFATC2 (Nuclear Factor of Activated T Cells 2) encodes a transcription factor that is a member of the nuclear factor of activated T cells (NFAT) family. This protein plays a key role in the inducible expression of cytokine genes during T-cell activation and immune response. It is regulated by calcium signaling and calcineurin-mediated dephosphorylation, which promotes its nuclear translocation. NFATC2 is involved in various cellular processes including differentiation, proliferation, and apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency 53 (IMD53) | Loss-of-function mutations impair T-cell activation and cytokine production, leading to recurrent infections. | ClinVar, OMIM |
| Hepatocellular carcinoma | NFATC2 overexpression or fusion events may promote tumor growth and metastasis. | COSMIC, NCBI |
| Breast cancer | Altered NFATC2 expression correlates with poor prognosis and invasive phenotype. | COSMIC, PubMed |
| Colorectal cancer | NFATC2 activation via calcineurin signaling contributes to tumor progression. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 15.2 | Medium |
| Spleen | 12.8 | Medium |
| Thymus | 10.5 | Medium |
| Lung | 4.3 | Low |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | 18.5 | High expression; used in immune signaling studies |
| HEK293 (embryonic kidney) | 6.2 | Moderate expression |
| HeLa (cervical carcinoma) | 4.8 | Low expression |
| MCF7 (breast cancer) | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34*) | Nonsense | Rare | Loss of function; associated with IMD53 |
| c.497G>A (p.Arg166Gln) | Missense | Rare | Impaired DNA binding; immunodeficiency |
| c.1234_1235insA | Frameshift | Rare | Premature truncation; loss of function |
| NFATC2-EWSR1 fusion | Gene fusion | Rare | Oncogenic; found in Ewing sarcoma |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg34*, c.1234_1235insA) result in truncated protein lacking transactivation domain, leading to immunodeficiency.
Gain of Function (GOF)
Not well documented; NFATC2 overexpression in certain cancers may act as an oncogenic driver.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg166Gln) may interfere with wild-type NFATC2 function by competing for DNA binding.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Calcineurin-NFAT signaling pathway
• T-cell receptor signaling pathway
• IL-2 signaling pathway
Protein Summary
NFATC2 is a 925-amino acid transcription factor with a conserved Rel homology domain (RHD) for DNA binding and a regulatory domain that undergoes calcineurin-dependent dephosphorylation. It forms homodimers or heterodimers with other NFAT family members and binds to the consensus sequence 5'-GGAAA-3' in target gene promoters. The protein is predominantly cytoplasmic in resting cells and translocates to the nucleus upon calcium signaling. Post-translational modifications include phosphorylation, acetylation, and ubiquitination.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NFATC2 Knockout HEK293 Cell Line | EDJ-KQ315 | Human | 4773 | Details Get a Quote |
| NFATC2IP Knockout HEK293 Cell Line | EDJ-KQ10245 | Human | 84901 | Details Get a Quote |
| NFATC2 Knockout A-549 Cell Line | EDJ-KQ18457 | Human | 4773 | Details Get a Quote |
| NFATC2 Knockout HCT 116 Cell Line | EDJ-KQ18458 | Human | 4773 | Details Get a Quote |
| NFATC2 Knockout HeLa Cell Line | EDJ-KQ18459 | Human | 4773 | Details Get a Quote |
| NFATC2IP Knockout A-549 Cell Line | EDJ-KQ37439 | Human | 84901 | Details Get a Quote |
| NFATC2IP Knockout HCT 116 Cell Line | EDJ-KQ37440 | Human | 84901 | Details Get a Quote |
| NFATC2IP Knockout HeLa Cell Line | EDJ-KQ37441 | Human | 84901 | Details Get a Quote |
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