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GeneE
50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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IKBKG
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
Chromosome X · Xq28
NCBI Gene: 8517Ensembl: ENSG00000269335.7HGNC: HGNC:5961UniProt: A0A087X1B1
560PubMed Papers
24Diseases
0Drugs
72Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription Factor
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of canonical NF-kappaB signal transductionprotein bindingprotein domain specific bindingpolyubiquitin modification-dependent protein bindingincontinentia pigmentiectodermal dysplasia and immunodeficiency 1immunodeficiency 33Hypohidrotic ectodermal dysplasia with immunodeficiency
✦AI Summary

IKBKG (also known as NEMO) is the regulatory subunit of the IκB kinase (IKK) complex, functioning as a critical scaffolding protein for NF-κB signaling 1. IKBKG acts as a signaling adaptor that facilitates IKK complex assembly and activation of the catalytic IKK subunits 1. Mechanistically, IKBKG undergoes conformational changes upon binding to linear (M1-linked) polyubiquitin chains, allowing allosteric activation during inflammatory signaling 1. Beyond canonical NF-κB activation, IKBKG mediates recruitment of non-canonical kinases TBK1 and IKKε to TNF receptor complexes, where they phosphorylate RIPK1 to prevent TNF-induced cell death 2. IKBKG also participates in lysosomal homeostasis by recruiting the IKK complex to damaged lysosomes marked by linear ubiquitination, triggering local NF-κB activation and promoting cell survival 3. Alternative splicing of IKBKG regulates autophagy in lung cancer, with specific isoforms influencing disease progression 4. Dysregulation of IKBKG causes severe X-linked disorders: mutations causing loss-of-function result in immunodeficiency syndromes, while mutations causing alternative splicing generate autoinflammatory disease (NDAS), demonstrating isoform-specific pathogenic mechanisms 56. IKBKG variants associate with age-related macular degeneration susceptibility and anti-VEGF treatment response 7.

Sources cited
1
NEMO/IKBKG is the scaffolding subunit of IKK complex required for IKKα/β activation; undergoes conformational changes upon M1-linked polyubiquitin binding
PMID: 29111346
2
NEMO recruits TBK1 and IKKε to TNF receptor complexes where they phosphorylate RIPK1 to prevent TNF-induced cell death
PMID: 30420664
3
IKBKG/NEMO is recruited to damaged lysosomes via M1 polyubiquitination and activates local NF-κB signaling for cell survival
PMID: 39744815
4
Alternative splicing of IKBKG generates isoforms that regulate autophagy and NF-κB signaling in lung cancer progression
PMID: 39897555
5
IKBKG mutations on Xq28 cause Incontinentia Pigmenti, an X-linked dominant neuroectodermal dysplasia that is usually lethal in males
PMID: 30660327
6
IKBKG mutations causing exon 5 skipping (NEMO-Δex5) generate autoinflammatory disease (NDAS) distinct from immunodeficiency, affecting TBK1 association and NF-κB/IFN responses
PMID: 35289316
7
IKBKG genetic variants associate with age-related macular degeneration susceptibility and reduced serum IKBKG protein concentrations in disease
PMID: 39768951
Disease Associationsⓘ24
incontinentia pigmentiOpen Targets
0.83Strong
ectodermal dysplasia and immunodeficiency 1Open Targets
0.81Strong
immunodeficiency 33Open Targets
0.78Strong
Hypohidrotic ectodermal dysplasia with immunodeficiencyOpen Targets
0.66Moderate
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedemaOpen Targets
0.60Moderate
autoinflammatory disease, X-linkedOpen Targets
0.58Moderate
anemia, nonspherocytic hemolytic, due to G6PD deficiencyOpen Targets
0.54Moderate
anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndromeOpen Targets
0.53Moderate
COVID-19Open Targets
0.47Moderate
genetic disorderOpen Targets
0.46Moderate
neuroinflammatory disorderOpen Targets
0.44Moderate
glucosephosphate dehydrogenase deficiencyOpen Targets
0.40Weak
inborn error of immunityOpen Targets
0.37Weak
IKBKG-related immunodeficiency with or without ectodermal dysplasiaOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.32Weak
head and neck carcinomaOpen Targets
0.16Weak
common variable immunodeficiencyOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Weak
ichthyosis prematurity syndromeOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
Autoinflammatory disease, systemic, X-linkedUniProt
Ectodermal dysplasia and immunodeficiency 1UniProt
Immunodeficiency 33UniProt
Incontinentia pigmentiUniProt
Pathogenic Variants72
NM_001099857.5(IKBKG):c.519-19_519-2delPathogenic
not provided|IKBKG-related disorder
★★☆☆2025
NM_001099857.5(IKBKG):c.519-3_519dupPathogenic
not provided|Incontinentia pigmenti syndrome
★★☆☆2024
NM_001099857.5(IKBKG):c.1167dup (p.Glu390fs)Pathogenic
Ectodermal dysplasia and immunodeficiency 1|not provided|Incontinentia pigmenti syndrome|Ectodermal dysplasia and immunodeficiency 1;Incontinentia pigmenti syndrome;Immunodeficiency 33|Immunodeficiency 33
★★☆☆2022→ Residue 390
NM_001099857.5(IKBKG):c.706C>T (p.Gln236Ter)Pathogenic
Incontinentia pigmenti syndrome|not provided
★★☆☆2022→ Residue 236
NC_000023.11:g.154558015_154569698delPathogenic
Incontinentia pigmenti syndrome
★☆☆☆2025
NM_001099857.5(IKBKG):c.184C>T (p.Arg62Ter)Pathogenic
Incontinentia pigmenti syndrome|not provided
★☆☆☆2025→ Residue 62
NM_001099857.5(IKBKG):c.766C>T (p.Arg256Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 256
NM_001099857.5(IKBKG):c.518G>A (p.Arg173Gln)Likely pathogenic
not provided
★☆☆☆2025→ Residue 173
NM_001099857.5(IKBKG):c.1117+5G>CLikely pathogenic
not provided|Incontinentia pigmenti syndrome|ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED
★☆☆☆2025
NM_001099857.5(IKBKG):c.680T>C (p.Leu227Pro)Likely pathogenic
not provided
★☆☆☆2025→ Residue 227
NM_001099857.5(IKBKG):c.768+5G>ALikely pathogenic
Ectodermal dysplasia and immunodeficiency 1|not provided
★☆☆☆2025
NM_001099857.5(IKBKG):c.671+2T>GPathogenic
Autoinflammatory disease, X-linked|not provided
★☆☆☆2025
NM_001099857.5(IKBKG):c.1217A>T (p.Asp406Val)Likely pathogenic
ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED|Incontinentia pigmenti syndrome|Ectodermal dysplasia and immunodeficiency 1
★☆☆☆2024→ Residue 406
NM_001099857.5(IKBKG):c.518+866C>TPathogenic
IMMUNODEFICIENCY 33, MALE-RESTRICTED|Incontinentia pigmenti syndrome|not provided
★☆☆☆2024
NM_001099857.5(IKBKG):c.1167del (p.Glu390fs)Pathogenic
not provided
★☆☆☆2024→ Residue 390
NM_001099857.5(IKBKG):c.574C>T (p.Gln192Ter)Likely pathogenic
Incontinentia pigmenti syndrome
★☆☆☆2024→ Residue 192
NM_001099857.5(IKBKG):c.792dup (p.Gln265fs)Pathogenic
not provided
★☆☆☆2024→ Residue 265
NM_001099857.5(IKBKG):c.518+2T>GPathogenic
not provided
★☆☆☆2024
NM_001099857.5(IKBKG):c.373del (p.Val125fs)Pathogenic
Incontinentia pigmenti syndrome
★☆☆☆2024→ Residue 125
NM_001099857.5(IKBKG):c.944A>C (p.Glu315Ala)Likely pathogenic
Immunodeficiency 33|not provided
★☆☆☆2023→ Residue 315
View on ClinVar ↗
Related Genes
BIRC2Protein interaction100%BIRC3Protein interaction100%BTKProtein interaction100%CASP8Protein interaction100%CASP10Protein interaction100%CD40Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Lung
62%
Ovary
33%
Brain
13%
Bone Marrow
11%
Heart
7%
Gene Interaction Network
Click a node to explore
IKBKGBIRC2BIRC3BTKCASP8CASP10CD40
PROTEIN STRUCTURE
Preparing viewer…
PDB8U7C · 1.44 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.46Moderately Constrained
pLIⓘ
0.98Intolerant
Observed/Expected LoF0.15 [0.06–0.46]
RankingsWhere IKBKG stands among ~20K protein-coding genes
  • #434of 20,598
    Most Researched560 · top 5%
  • #1,014of 5,498
    Most Pathogenic Variants72 · top quartile
  • #2,582of 17,882
    Most Constrained (LOEUF)0.46 · top quartile
Genes detectedIKBKG
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
TBK1 and IKKε prevent TNF-induced cell death by RIPK1 phosphorylation.
PMID: 30420664
Nat Cell Biol · 2018
1.00
2
Incontinentia Pigmenti.
PMID: 30660327
Actas Dermosifiliogr (Engl Ed) · 2019
0.90
3
Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency.
PMID: 38265673
J Clin Immunol · 2024
0.88
4
Prevalence and clinical characteristics of incontinentia pigmenti: a nationwide population-based study.
PMID: 39623400
Orphanet J Rare Dis · 2024
0.84
5
NEMO reshapes the α-Synuclein aggregate interface and acts as an autophagy adapter by co-condensation with p62.
PMID: 38114471
Nat Commun · 2023
0.82