IKBKE Gene (Inhibitor of Nuclear Factor Kappa B Kinase Subunit Epsilon)
A key regulator of NF-κB signaling and innate immunity with implications in cancer and autoimmune diseases.
Gene Information Card
| Symbol | IKBKE |
|---|---|
| Full Name | Inhibitor of nuclear factor kappa B kinase subunit epsilon |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 9641 ncbi.nlm.nih.gov/gene/9641 |
| Ensembl ID | ENSG00000116670 |
| UniProt ID | Q14164 |
| OMIM ID | 605048 |
| HGNC ID | 5962 |
| Aliases | IKK epsilon, IKK-i, IKK-E, MGC125294, MGC125295 |
Description
IKBKE encodes a serine/threonine kinase that phosphorylates and activates the NF-κB pathway in response to viral and bacterial infections. It is a key component of the innate immune system, regulating interferon production and inflammatory responses. Overexpression and activating mutations have been implicated in various cancers, including breast and ovarian cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | IKBKE amplification and overexpression lead to constitutive NF-κB activation, promoting cell proliferation and survival. | COSMIC, NCBI |
| Ovarian cancer | Amplification of IKBKE contributes to tumorigenesis through NF-κB and IRF3 signaling. | COSMIC, NCBI |
| Systemic lupus erythematosus | Genetic variants in IKBKE are associated with increased NF-κB activity and autoimmunity. | OMIM, ClinVar |
| Viral infections | IKBKE mediates antiviral responses by phosphorylating IRF3/7, inducing type I interferons. | NCBI, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.3 | Medium |
| Lung | 8.7 | Medium |
| Breast | 5.2 | Low |
| Ovary | 4.1 | Low |
| Whole blood | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.6 | High expression in embryonic kidney cells |
| MCF7 | 9.8 | Moderate expression in breast cancer cell line |
| HeLa | 7.4 | Moderate expression in cervical cancer cells |
| Jurkat | 4.5 | Low expression in T-cell leukemia line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1070A>G (p.Glu357Gly) | Missense | 0.2% | Alters kinase domain; potential gain-of-function |
| c.1550C>T (p.Pro517Leu) | Missense | 0.1% | Unknown functional impact |
| Amplification | Copy number gain | 5-10% in breast cancer | Increased expression and pathway activation |
Mutation functional classification
Loss of Function (LOF)
Rare; not well characterized in IKBKE.
Gain of Function (GOF)
Amplifications and missense mutations (e.g., p.Glu357Gly) are associated with increased kinase activity and NF-κB signaling.
Dominant Negative (DN)
Not reported for IKBKE.
View complete mutation data：
Gene Ontology (GO)
| • I-kappaB kinase activity (GO:0008384) | • activation of NF-kappaB-inducing kinase activity (GO:0007250) |
| • innate immune response (GO:0045087) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) |
Pathways
• NF-kappa B signaling pathway (KEGG: hsa04064)
• RIG-I-like receptor signaling pathway (KEGG: hsa04622)
• Toll-like receptor signaling pathway (KEGG: hsa04620)
• Cytosolic DNA-sensing pathway (KEGG: hsa04623)
Protein Summary
IKBKE (IKK epsilon) is a 716-amino acid serine/threonine kinase that phosphorylates IκB proteins, leading to NF-κB activation. It also phosphorylates IRF3 and IRF7 to induce interferon production. The protein contains an N-terminal kinase domain, a ubiquitin-like domain, and a C-terminal scaffold/dimerization domain. It is predominantly cytoplasmic and is essential for antiviral and inflammatory signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IKBKE Knockout HEK293 Cell Line | EDJ-KQ246 | Human | 9641 | Details Get a Quote |
| IKBKE Knockout HCT 116 Cell Line | EDJ-KQ30987 | Human | 9641 | Details Get a Quote |
| IKBKE Knockout HeLa Cell Line | EDJ-KQ30988 | Human | 9641 | Details Get a Quote |
| IKBKE Knockout A-549 Cell Line | EDJ-KQ18267 | Human | 9641 | Details Get a Quote |
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