NFATC2IP
Nuclear Factor of Activated T Cells 2 Interacting Protein
Gene Information Card
| Symbol | NFATC2IP |
|---|---|
| Full Name | Nuclear Factor of Activated T Cells 2 Interacting Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 84901 ncbi.nlm.nih.gov/gene/84901 |
| Ensembl ID | ENSG00000140937 |
| UniProt ID | Q8NCF5 |
| OMIM ID | 614542 |
| HGNC ID | 24596 |
| Aliases | NIP45, NFAT-interacting protein 45 kDa |
Description
NFATC2IP (Nuclear Factor of Activated T Cells 2 Interacting Protein) encodes a protein that interacts with NFATC2, a transcription factor involved in immune response. The encoded protein enhances NFATC2-mediated transcriptional activation and may play a role in cytokine gene expression. It is also implicated in DNA repair and cell cycle regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression may affect NFAT signaling and cell proliferation | NCBI Gene, COSMIC |
| Colorectal cancer | Potential role in tumorigenesis via transcriptional dysregulation | COSMIC |
| Immune disorders | Modulation of NFAT activity may influence T-cell function | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 9.8 | Medium |
| Spleen | 8.2 | Medium |
| Bone marrow | 6.5 | Low |
| Brain | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| Jurkat | 11.4 | T-cell line, relevant to NFAT signaling |
| HeLa | 7.8 | Moderate expression |
| MCF7 | 6.3 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown functional impact |
| c.205G>A (p.Glu69Lys) | Missense | <0.01% | Reported in COSMIC, uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NFAT signaling pathway
• Transcriptional regulation by NFAT
Protein Summary
NFATC2IP is a 45 kDa nuclear protein that interacts with the transcription factor NFATC2. It enhances NFAT-mediated transcriptional activation, particularly in immune cells. The protein contains a coiled-coil domain and is involved in regulating cytokine expression and cell proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NFATC2IP Knockout HEK293 Cell Line | EDJ-KQ10245 | Human | 84901 | 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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