IKBKG Gene - Inhibitor of Nuclear Factor Kappa B Kinase Subunit Gamma
Essential regulator of NF-κB signaling and immune response
Gene Information Card
| Symbol | IKBKG |
|---|---|
| Full Name | Inhibitor of Nuclear Factor Kappa B Kinase Subunit Gamma |
| Gene Type | Protein coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 8517 ncbi.nlm.nih.gov/gene/8517 |
| Ensembl ID | ENSG00000069399 |
| UniProt ID | Q9Y6K9 |
| OMIM ID | 300248 |
| HGNC ID | 5961 |
| Aliases | NEMO, FIP3, FIP-3, IKKAP1, IKK-gamma, IP1, IP2, IPD2, NEMO1, ZC2HC9 |
Description
The IKBKG gene encodes the regulatory subunit of the inhibitor of kappa B kinase (IKK) complex, known as NEMO (NF-κB essential modulator). This protein is critical for activating the NF-κB transcription factor, which regulates immune responses, inflammation, cell survival, and development. Mutations in IKBKG cause X-linked primary immunodeficiencies and ectodermal dysplasia syndromes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Incontinentia Pigmenti | Loss-of-function mutations in IKBKG disrupt NF-κB activation, leading to X-linked dominant male-lethal disorder with skin, hair, and neurological abnormalities. | OMIM #308300 |
| Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency (EDA-ID) | Hypomorphic mutations impair NF-κB signaling, causing defective development of ectodermal tissues and severe immune deficiency. | OMIM #300291 |
| Immunodeficiency 33 (IMD33) | Specific IKBKG mutations result in recurrent infections, hyper-IgM syndrome, and impaired antibody responses. | OMIM #300636 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Whole blood | 12.3 | Medium |
| Lymph node | 10.8 | Medium |
| Spleen | 9.5 | Medium |
| Bone marrow | 8.2 | Low |
| Skin | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical carcinoma |
| K-562 | 11.4 | Leukemia |
| HEK 293 | 9.8 | Embryonic kidney |
| Jurkat | 14.1 | T-cell leukemia |
| HepG2 | 7.3 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1167dupC (p.Glu390Argfs*4) | Frameshift | Common in incontinentia pigmenti | Loss of function |
| c.1056_1058del (p.Glu352del) | In-frame deletion | Rare | Dominant negative |
| c.397A>G (p.Met133Val) | Missense | Associated with EDA-ID | Hypomorphic |
Mutation functional classification
Loss of Function (LOF)
Complete loss of NEMO function leads to incontinentia pigmenti (male lethal) and severe immunodeficiency.
Gain of Function (GOF)
Not reported for IKBKG; gain-of-function mutations are not described in literature.
Dominant Negative (DN)
Some missense or in-frame deletions (e.g., p.Glu352del) produce a dominant-negative effect, impairing IKK complex assembly.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NF-kappa B signaling pathway (KEGG: hsa04064)
• Toll-like receptor signaling pathway (KEGG: hsa04620)
• RIG-I-like receptor signaling pathway (KEGG: hsa04622)
• NOD-like receptor signaling pathway (KEGG: hsa04621)
Protein Summary
NEMO (IKK-gamma) is a 48 kDa scaffold protein that forms the regulatory subunit of the IKK complex. It contains a coiled-coil region, a leucine zipper, and a zinc finger domain. NEMO binds to IKKα and IKKβ, enabling activation of the IKK complex by upstream signals. It is essential for canonical NF-κB activation, which controls transcription of genes involved in immunity, inflammation, and cell survival.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IKBKG Knockout HEK293T Cell Line | EDJ-KQ207 | Human | 8517 | Details Get a Quote |
| IKBKG Knockout HEK293 Cell Line | EDJ-KQ567 | Human | 8517 | Details Get a Quote |
| IKBKG Knockout A-549 Cell Line | EDJ-KQ18956 | Human | 8517 | Details Get a Quote |
| IKBKG Knockout HCT 116 Cell Line | EDJ-KQ18957 | Human | 8517 | Details Get a Quote |
| IKBKG Knockout HeLa Cell Line | EDJ-KQ18958 | Human | 8517 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
