NFKBIZ
NFKB Inhibitor Zeta: A Key Regulator of Inflammatory and Immune Responses
Gene Information Card
| Symbol | NFKBIZ |
|---|---|
| Full Name | NFKB Inhibitor Zeta |
| Gene Type | Protein coding |
| Chromosomal Location | 3q12.3 |
| NCBI Gene ID | 64332 ncbi.nlm.nih.gov/gene/64332 |
| Ensembl ID | ENSG00000144802 |
| UniProt ID | Q9BYH8 |
| OMIM ID | 608004 |
| HGNC ID | 29805 |
| Aliases | IκBζ, MAIL, INAP |
Description
NFKBIZ encodes IκBζ, a nuclear protein that inhibits NF-κB transcription factors by binding to p50 homodimers. It is induced by various stimuli and plays a critical role in regulating inflammatory and immune responses. Mutations and dysregulation of NFKBIZ are associated with inflammatory diseases and cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Psoriasis | Gain-of-function mutations in NFKBIZ lead to increased IL-36 signaling and keratinocyte proliferation. | ClinVar, OMIM |
| Diffuse Large B-Cell Lymphoma | Somatic mutations and copy number alterations in NFKBIZ contribute to NF-κB pathway activation. | COSMIC, NCBI |
| Inflammatory Bowel Disease | NFKBIZ variants are associated with altered immune responses in the gut. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Bone marrow | 8.9 | Medium |
| Skin | 5.3 | Low |
| Lung | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 8.5 | Moderate expression |
| K562 | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1135C>T (p.Arg379*) | Nonsense | Rare | Loss of function |
| c.152A>G (p.Tyr51Cys) | Missense | Rare | Gain of function |
| c.1000_1001insA | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, impairing its inhibitory function.
Gain of Function (GOF)
Missense mutations that enhance IκBζ stability or activity, leading to sustained NF-κB signaling.
Dominant Negative (DN)
Not reported for NFKBIZ.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • protein binding |
| • cytoplasm | • nucleus |
| • negative regulation of NF-kappaB transcription factor activity |
Pathways
• NF-kappa B signaling pathway
• Toll-like receptor signaling pathway
• IL-17 signaling pathway
Protein Summary
IκBζ is a 718-amino acid protein containing an ankyrin repeat domain. It is predominantly nuclear and regulates the expression of a subset of NF-κB target genes, particularly those involved in inflammation and immunity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NFKBIZ Knockout HEK293 Cell Line | EDJ-KQ14416 | Human | 64332 | Details Get a Quote |
| NFKBIZ Knockout A-549 Cell Line | EDJ-KQ44613 | Human | 64332 | Details Get a Quote |
| NFKBIZ Knockout HCT 116 Cell Line | EDJ-KQ44614 | Human | 64332 | Details Get a Quote |
| NFKBIZ Knockout HeLa Cell Line | EDJ-KQ44615 | Human | 64332 | Details Get a Quote |
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