NFRKB: Nuclear Factor Related to Kappa-B Binding Protein
A key regulator of NF-κB signaling and chromatin remodeling, implicated in immune disorders and cancer.
Gene Information Card
| Symbol | NFRKB |
|---|---|
| Full Name | Nuclear Factor Related to Kappa-B Binding Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 11q24.3 |
| NCBI Gene ID | 4798 ncbi.nlm.nih.gov/gene/4798 |
| Ensembl ID | ENSG00000167774 |
| UniProt ID | Q6P4R8 |
| OMIM ID | 164013 |
| HGNC ID | 7802 |
| Aliases | INO80G, INO80 complex subunit G, DNA-binding protein Inaba |
Description
NFRKB encodes a DNA-binding protein that is a subunit of the INO80 chromatin remodeling complex. It functions as a transcriptional regulator, modulating NF-κB signaling and chromatin structure. The protein is involved in immune response, cell proliferation, and DNA repair. Mutations in NFRKB are associated with combined immunodeficiency and have been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined immunodeficiency (CID) | Loss-of-function mutations impair INO80 complex activity, disrupting chromatin remodeling and immune gene expression. | ClinVar, OMIM |
| Hepatocellular carcinoma | Overexpression and copy number gains of NFRKB promote NF-κB activation and tumor growth. | COSMIC, PubMed |
| Breast cancer | Altered NFRKB expression correlates with poor prognosis and may influence estrogen receptor signaling. | COSMIC, PubMed |
| Lung adenocarcinoma | Somatic mutations and altered expression of NFRKB are observed, potentially affecting DNA repair pathways. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Spleen | 9.8 | Medium |
| Testis | 8.1 | Low |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.0 | High expression |
| HeLa (cervical) | 11.2 | Medium expression |
| HepG2 (liver) | 9.5 | Medium expression |
| A549 (lung) | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function; premature stop codon |
| c.2101G>A (p.Glu701Lys) | Missense | Unknown | Potential gain of function; altered DNA binding |
| c.789+1G>A | Splice site | Rare | Loss of function; aberrant splicing |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg412*, p.Glu190fs) lead to truncated or absent protein, impairing INO80 complex function and NF-κB signaling.
Gain of Function (GOF)
Missense mutations such as p.Glu701Lys may enhance DNA binding or transcriptional activity, potentially promoting oncogenic NF-κB signaling.
Dominant Negative (DN)
No well-characterized dominant-negative mutations reported; however, some splice variants could theoretically interfere with wild-type function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NF-kappa B signaling pathway (KEGG: hsa04064)
• Chromatin remodeling by INO80 complex (Reactome: R-HSA-201722)
• Transcriptional regulation by TP53 (Reactome: R-HSA-3700989)
Protein Summary
NFRKB (also known as INO80G) is a 135 kDa protein that contains a DNA-binding domain and interacts with the INO80 chromatin remodeling complex. It binds to specific DNA sequences and modulates transcription, particularly of NF-κB target genes. The protein is essential for normal immune function, and its dysregulation contributes to immunodeficiency and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NFRKB Knockout HEK293 Cell Line | EDJ-KQ5348 | Human | 4798 | Details Get a Quote |
| NFRKB Knockout HCT 116 Cell Line | EDJ-KQ28457 | Human | 4798 | Details Get a Quote |
| NFRKB Knockout HeLa Cell Line | EDJ-KQ28458 | Human | 4798 | Details Get a Quote |
| NFRKB Knockout A-549 Cell Line | EDJ-KQ62481 | Human | 4798 | Details Get a Quote |
