NKRF (NF-kappa-B Repressing Factor)
A transcriptional repressor of NF-kappa-B signaling with roles in immune regulation and cancer
Gene Information Card
| Symbol | NKRF |
|---|---|
| Full Name | NF-kappa-B Repressing Factor |
| Gene Type | protein-coding |
| Chromosomal Location | Xq24 |
| NCBI Gene ID | 55922 ncbi.nlm.nih.gov/gene/55922 |
| Ensembl ID | ENSG00000147133 |
| UniProt ID | Q9H0Z9 |
| OMIM ID | 300813 |
| HGNC ID | 17943 |
| Aliases | ITBA2, MGC138290, MGC138291 |
Description
NKRF (NF-kappa-B Repressing Factor) encodes a protein that functions as a transcriptional repressor of NF-kappa-B signaling. The protein binds to specific negative regulatory elements (NREs) in the promoter regions of NF-kappa-B target genes, including IL8 and IFNB1, thereby modulating inflammatory and immune responses. NKRF is also involved in the regulation of viral replication and has been implicated in various cancers and immune disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency 95 (IMD95) | Loss-of-function mutations in NKRF impair repression of NF-kappa-B target genes, leading to dysregulated cytokine production and immune deficiency. | ClinVar, OMIM |
| Hepatocellular carcinoma | NKRF downregulation or mutation may contribute to increased NF-kappa-B activity and tumor progression. | COSMIC, NCBI |
| Colorectal cancer | Altered NKRF expression associated with NF-kappa-B pathway activation and poor prognosis. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Lung | 8.2 | Medium |
| Liver | 6.1 | Low |
| Brain | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney, high expression |
| HeLa | 11.7 | Cervical carcinoma, moderate expression |
| HepG2 | 7.9 | Hepatocellular carcinoma, moderate expression |
| K562 | 5.3 | Leukemia, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109*) | nonsense | <0.01% | Premature stop, loss of function |
| c.682G>A (p.Gly228Arg) | missense | <0.01% | Unknown effect, reported in cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg109*) lead to truncated protein and loss of repressor activity, associated with immunodeficiency.
Gain of Function (GOF)
Not well documented; no clear gain-of-function mutations reported in major databases.
Dominant Negative (DN)
Not established; NKRF mutations are typically recessive or haploinsufficient.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NF-kappa B signaling pathway (Reactome: R-HSA-975827)
• Cytokine Signaling in Immune system (Reactome: R-HSA-1280215)
Protein Summary
The NKRF protein (UniProt Q9H0Z9) is a 69 kDa nuclear factor that contains a zinc finger domain and a leucine zipper motif. It specifically binds to negative regulatory elements (NREs) in the promoters of NF-kappa-B-responsive genes, such as IL8 and IFNB1, recruiting histone deacetylases to repress transcription. NKRF thus acts as a key negative regulator of the NF-kappa-B pathway, controlling inflammatory responses and immune homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NKRF Knockout HEK293 Cell Line | EDJ-KQ3744 | Human | 55922 | Details Get a Quote |
| NKRF Knockout HCT 116 Cell Line | EDJ-KQ24444 | Human | 55922 | Details Get a Quote |
| NKRF Knockout A-549 Cell Line | EDJ-KQ25810 | Human | 55922 | Details Get a Quote |
| NKRF Knockout HeLa Cell Line | EDJ-KQ25812 | Human | 55922 | Details Get a Quote |
