NFIC Gene: Nuclear Factor I C
A transcription factor involved in development, cell differentiation, and cancer
Gene Information Card
| Symbol | NFIC |
|---|---|
| Full Name | Nuclear Factor I C |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 4782 ncbi.nlm.nih.gov/gene/4782 |
| Ensembl ID | ENSG00000141959 |
| UniProt ID | P08651 |
| OMIM ID | 600729 |
| HGNC ID | 7786 |
| Aliases | NFI-C, CTF5, NF-I/C, NFI/CTF |
Description
The NFIC gene encodes nuclear factor I C, a member of the NFI family of transcription factors. NFI proteins bind to DNA as dimers and regulate the expression of genes involved in development, cell proliferation, and differentiation. NFIC is particularly important in tooth root development, mammary gland morphogenesis, and osteoblast differentiation. Aberrant expression and mutations of NFIC have been implicated in various cancers, including breast cancer, lung cancer, and osteosarcoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | NFIC overexpression or amplification may drive tumorigenesis through transcriptional dysregulation of target genes involved in cell cycle and apoptosis. | PubMed (PMID: 25691885) |
| Lung cancer | NFIC copy number gains and increased expression are associated with poor prognosis and may promote metastasis. | PubMed (PMID: 29348624) |
| Osteosarcoma | NFIC mutations and altered expression contribute to osteoblast differentiation defects and tumor progression. | PubMed (PMID: 31073040) |
| Tooth agenesis | NFIC loss-of-function mutations disrupt tooth root development, leading to selective tooth agenesis. | OMIM #600729 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Mammary gland | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lung | 7.9 | Low |
| Kidney | 6.5 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.3 | High expression |
| A549 (lung cancer) | 10.1 | Moderate expression |
| HepG2 (liver cancer) | 5.2 | Low expression |
| K562 (leukemia) | 3.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1096C>T (p.Arg366*) | Nonsense | <1% | Loss of function; associated with tooth agenesis |
| c.1483G>A (p.Gly495Arg) | Missense | <1% | Unknown; predicted damaging |
| Amplification | Copy number gain | 5-10% in breast cancer | Increased expression; potential oncogenic driver |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg366*) lead to truncated protein lacking DNA-binding and dimerization domains, causing loss of transcriptional activity.
Gain of Function (GOF)
Gene amplification and overexpression in cancers may confer gain-of-function by increasing transcription of proliferative target genes.
Dominant Negative (DN)
Missense mutations in the DNA-binding domain may produce proteins that dimerize with wild-type NFI subunits but fail to bind DNA, acting as dominant-negative inhibitors.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NFI transcription factor network
• Developmental biology (tooth root formation
• mammary gland branching)
Protein Summary
Nuclear factor I C (NFIC) is a 507-amino acid transcription factor that binds DNA as a homodimer or heterodimer with other NFI family members. It contains an N-terminal DNA-binding domain and a C-terminal transactivation domain. NFIC regulates genes involved in cell cycle control, differentiation, and development. Post-translational modifications include phosphorylation, which modulates its activity. The protein is localized to the nucleus and is expressed in multiple tissues, with highest levels in mammary gland and bone marrow.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NFIC Knockout HEK293 Cell Line | EDJ-KQ4555 | Human | 4782 | Details Get a Quote |
| NFIC Knockout A-549 Cell Line | EDJ-KQ28424 | Human | 4782 | Details Get a Quote |
| NFIC Knockout HCT 116 Cell Line | EDJ-KQ28426 | Human | 4782 | Details Get a Quote |
| NFIC Knockout HeLa Cell Line | EDJ-KQ28427 | Human | 4782 | Details Get a Quote |
