NFKBID: A Key Regulator of NF-κB Signaling
Comprehensive genomic and functional analysis of NFKBID, an inhibitor of NF-kappa-B signaling.
Gene Information Card
| Symbol | NFKBID |
|---|---|
| Full Name | NFKB Inhibitor Delta |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.12 |
| NCBI Gene ID | 84807 ncbi.nlm.nih.gov/gene/84807 |
| Ensembl ID | ENSG00000167632 |
| UniProt ID | Q8NI38 |
| OMIM ID | 617525 |
| HGNC ID | 30078 |
| Aliases | IκBδ, IkappaBdelta, NFKBID1 |
Description
NFKBID (NFKB Inhibitor Delta) encodes IκBδ, a member of the IκB family of proteins that inhibit NF-κB transcription factors. IκBδ sequesters NF-κB dimers in the cytoplasm, preventing their nuclear translocation and transcriptional activity. It plays a critical role in regulating immune responses, inflammation, and cell survival. Alternative splicing generates multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diffuse Large B-Cell Lymphoma | NFKBID mutations may lead to constitutive NF-κB activation, promoting B-cell proliferation and survival. | COSMIC, ClinVar |
| Inflammatory Bowel Disease | Altered NFKBID expression can dysregulate NF-κB-mediated inflammatory cytokine production. | NCBI Gene, OMIM |
| Rheumatoid Arthritis | Increased NFKBID expression may modulate NF-κB activity in synovial fibroblasts. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Lymph Node | 10.8 | Medium |
| Bone Marrow | 8.2 | Medium |
| Whole Blood | 3.1 | Low |
| Lung | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| HeLa | 9.5 | Medium expression |
| K562 | 6.8 | Medium expression |
| MCF7 | 4.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.1% | Alters start codon, potential loss of function |
| c.200C>T | Nonsense | <0.1% | Premature stop, likely loss of function |
| c.350G>A | Missense | <0.1% | p.Arg117His, unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt the ankyrin repeat domain impair NF-κB inhibition.
Gain of Function (GOF)
Not well characterized; potential missense mutations that enhance stability or binding may increase inhibition.
Dominant Negative (DN)
Mutations that produce truncated IκBδ lacking the C-terminal region may interfere with wild-type function.
View complete mutation data：
Gene Ontology (GO)
| • transcription factor binding (GO:0008134) | • NF-kappaB binding (GO:0042345) |
| • negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124) | • cytoplasm (GO:0005737) |
Pathways
• NF-kappa B signaling pathway (KEGG: hsa04064)
• Toll-like receptor signaling pathway (KEGG: hsa04620)
• Cytokine-cytokine receptor interaction (KEGG: hsa04060)
Protein Summary
IκBδ is a 361-amino acid protein containing multiple ankyrin repeats that mediate interaction with NF-κB dimers. It is predominantly cytoplasmic and acts as a negative regulator of NF-κB by retaining NF-κB complexes in the cytoplasm. Unlike classical IκBs, IκBδ is resistant to signal-induced degradation, providing sustained inhibition. Its expression is enriched in lymphoid tissues and immune cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NFKBID Knockout HEK293 Cell Line | EDJ-KQ10204 | Human | 84807 | Details Get a Quote |
| NFKBID Knockout HCT 116 Cell Line | EDJ-KQ36114 | Human | 84807 | Details Get a Quote |
| NFKBID Knockout A-549 Cell Line | EDJ-KQ37353 | Human | 84807 | Details Get a Quote |
| NFKBID Knockout HeLa Cell Line | EDJ-KQ37355 | Human | 84807 | Details Get a Quote |
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