HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
IKBKB
inhibitor of nuclear factor kappa B kinase subunit beta
Chromosome 8 · 8p11.21
NCBI Gene: 3551Ensembl: ENSG00000104365.16HGNC: HGNC:5960UniProt: A0A499FJS7
649PubMed Papers
22Diseases
6Drugs
32Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneKinase
RESEARCH IMPACT
Highly Studied
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of canonical NF-kappaB signal transductionpositive regulation of transcription by RNA polymerase IIprotein homodimerization activityprotein heterodimerization activitysevere combined immunodeficiency due to IKK2 deficiencyimmunodeficiency 15aCOVID-19combined immunodeficiency
✦AI Summary

IKBKB (inhibitor of nuclear factor kappa B kinase subunit beta) is a serine kinase that serves as a critical component of the canonical IKK complex, functioning as a central regulator of NF-κB signaling 1. The protein phosphorylates inhibitors of NF-κB at two critical serine residues, enabling their polyubiquitination and proteasomal degradation, thereby liberating NF-κB for nuclear translocation and transcriptional activation of genes controlling immune response, growth, and apoptosis suppression 2. Beyond classical substrates, IKBKB phosphorylates multiple signaling pathway components including NEMO/IKBKG, NF-κB subunits RELA and NFKB1, and IKK-related kinases TBK1 and IKBKE, with the latter phosphorylations exerting negative regulation to prevent inflammatory overproduction. The kinase also regulates non-canonical substrates including FOXO3, RIPK1, IRF5, and STAT1, the latter controlling interferon signaling and IL6/IL12B transcription. Recent evidence reveals IKBKB regulates metabolism and tumorigenesis through the USP30-ACLY axis in hepatocellular carcinoma 3 and promotes compensatory glucose uptake in brain tumors via α-ketoglutarate-activated NF-κB signaling 4. Clinically, biallelic loss-of-function IKBKB variants cause severe combined immunodeficiency, while heterozygous gain-of-function variants associate with autoimmunity and autoinflammation 5. IKBKB polymorphisms also influence age-related macular degeneration susceptibility and anti-VEGF treatment response 6.

Sources cited
1
TNF-R1 signaling activation and its role in inflammation and immune responses, foundational to understanding IKBKB function in TNF signaling
PMID: 12040173
2
NF-κB regulation in the immune system and IKBKB's role as a central component of NF-κB regulatory pathways
PMID: 12360211
3
IKBKB phosphorylates and stabilizes USP30, controlling the IKKβ-USP30-ACLY axis in lipogenesis and hepatocellular carcinoma tumorigenesis
PMID: 32221968
4
α-ketoglutarate directly activates IKBKB and NF-κB signaling to promote glucose uptake and brain tumor development
PMID: 31447391
5
Heterozygous gain-of-function IKBKB variants (T559M) cause autoimmunity and autoinflammation with increased NF-κB phosphorylation and IκBα degradation
PMID: 36378426
6
IKBKB rs13278372 A allele associates with worse anti-VEGF treatment response in exudative age-related macular degeneration
PMID: 39768951
Disease Associationsⓘ22
severe combined immunodeficiency due to IKK2 deficiencyOpen Targets
0.79Strong
immunodeficiency 15aOpen Targets
0.65Moderate
COVID-19Open Targets
0.48Moderate
combined immunodeficiencyOpen Targets
0.47Moderate
severe combined immunodeficiencyOpen Targets
0.45Moderate
multiple myelomaOpen Targets
0.44Moderate
systemic lupus erythematosusOpen Targets
0.41Moderate
autoimmune disorder of musculoskeletal systemOpen Targets
0.40Weak
osteoarthritisOpen Targets
0.40Weak
colorectal adenocarcinomaOpen Targets
0.37Weak
skin basal cell carcinomaOpen Targets
0.37Weak
neuroinflammatory disorderOpen Targets
0.37Weak
breast ductal adenocarcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
cutaneous melanomaOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
kidney neoplasmOpen Targets
0.37Weak
lung carcinomaOpen Targets
0.37Weak
nodular melanomaOpen Targets
0.37Weak
superficial spreading melanomaOpen Targets
0.37Weak
Immunodeficiency 15AUniProt
Immunodeficiency 15BUniProt
Pathogenic Variants32
NM_001556.3(IKBKB):c.856C>T (p.Arg286Ter)Pathogenic
Severe combined immunodeficiency due to IKK2 deficiency|not provided
★★☆☆2024→ Residue 286
NM_001556.3(IKBKB):c.607G>A (p.Val203Ile)Pathogenic
Immunodeficiency 15a|Severe combined immunodeficiency due to IKK2 deficiency
★★☆☆2023→ Residue 203
NM_001556.3(IKBKB):c.1739-1G>TLikely pathogenic
Severe combined immunodeficiency due to IKK2 deficiency
★☆☆☆2026
NM_001556.3(IKBKB):c.1273C>T (p.Gln425Ter)Pathogenic
Severe combined immunodeficiency due to IKK2 deficiency
★☆☆☆2025→ Residue 425
NM_001556.3(IKBKB):c.201-1G>ALikely pathogenic
Severe combined immunodeficiency due to IKK2 deficiency
★☆☆☆2025
NM_001556.3(IKBKB):c.25del (p.Thr9fs)Pathogenic
Severe combined immunodeficiency due to IKK2 deficiency
★☆☆☆2024→ Residue 9
NM_001556.3(IKBKB):c.2038C>T (p.Arg680Ter)Likely pathogenic
not provided
★☆☆☆2024→ Residue 680
NM_001556.3(IKBKB):c.849G>A (p.Trp283Ter)Likely pathogenic
Severe combined immunodeficiency due to IKK2 deficiency
★☆☆☆2024→ Residue 283
NM_001556.3(IKBKB):c.1762C>T (p.Gln588Ter)Pathogenic
Severe combined immunodeficiency due to IKK2 deficiency
★☆☆☆2024→ Residue 588
NM_001556.3(IKBKB):c.1705G>T (p.Glu569Ter)Pathogenic
Severe combined immunodeficiency due to IKK2 deficiency
★☆☆☆2024→ Residue 569
NM_001556.3(IKBKB):c.814C>T (p.Arg272Ter)Pathogenic
Severe combined immunodeficiency due to IKK2 deficiency|Severe combined immunodeficiency due to IKK2 deficiency;Immunodeficiency 15a
★☆☆☆2024→ Residue 272
NM_001556.3(IKBKB):c.567+1G>ALikely pathogenic
Severe combined immunodeficiency due to IKK2 deficiency
★☆☆☆2024
NM_001556.3(IKBKB):c.923dup (p.Asn308fs)Likely pathogenic
Severe combined immunodeficiency due to IKK2 deficiency
★☆☆☆2024→ Residue 308
NM_001556.3(IKBKB):c.229C>T (p.Arg77Ter)Likely pathogenic
Immunodeficiency 15a;Severe combined immunodeficiency due to IKK2 deficiency
★☆☆☆2024→ Residue 77
NM_001556.3(IKBKB):c.1696C>T (p.Gln566Ter)Pathogenic
Severe combined immunodeficiency due to IKK2 deficiency
★☆☆☆2023→ Residue 566
NM_001556.3(IKBKB):c.2116del (p.Glu706fs)Pathogenic
Severe combined immunodeficiency due to IKK2 deficiency
★☆☆☆2023→ Residue 706
NM_001556.3(IKBKB):c.477+2T>CLikely pathogenic
not provided
★☆☆☆2023
NM_001556.3(IKBKB):c.1365-2A>CLikely pathogenic
Severe combined immunodeficiency due to IKK2 deficiency
★☆☆☆2023
NM_001556.3(IKBKB):c.163C>T (p.Arg55Ter)Pathogenic
Severe combined immunodeficiency due to IKK2 deficiency
★☆☆☆2023→ Residue 55
NM_001556.3(IKBKB):c.2115-1G>ALikely pathogenic
Severe combined immunodeficiency due to IKK2 deficiency
★☆☆☆2023
View on ClinVar ↗
Drug Targets6
AS-602868Phase I
Tyrosine-protein kinase receptor FLT3 inhibitor
multiple myeloma
BARDOXOLONE METHYLPhase III
Peroxisome proliferator-activated receptor gamma antagonist
mixed connective tissue disease
IMD-0354Phase I
Inhibitor of nuclear factor kappa B kinase beta subunit inhibitor
acne
IMD-1041Phase II
Inhibitor of nuclear factor kappa B kinase beta subunit inhibitor
Alzheimer disease
MLN-0415Phase I
Inhibitor of nuclear factor kappa B kinase beta subunit inhibitor
arthritis
SAR-113945Phase II
Inhibitor of nuclear factor kappa B kinase beta subunit inhibitor
osteoarthritis
Related Genes
BIRC2Protein interaction100%XIAPProtein interaction100%MAP3K8Protein interaction100%CYLDProtein interaction100%HSPB1Protein interaction100%TRAF5Protein interaction100%
Tissue Expression6 tissues
Lung
100%
Ovary
73%
Liver
56%
Bone Marrow
35%
Heart
29%
Brain
11%
Gene Interaction Network
Click a node to explore
IKBKBBIRC2XIAPMAP3K8CYLDHSPB1TRAF5
PROTEIN STRUCTURE
Preparing viewer…
PDB3BRV · 2.20 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.47Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.35 [0.27–0.47]
RankingsWhere IKBKB stands among ~20K protein-coding genes
  • #345of 20,598
    Most Researched649 · top 5%
  • #1,742of 5,498
    Most Pathogenic Variants32
  • #2,713of 17,882
    Most Constrained (LOEUF)0.47 · top quartile
Genes detectedIKBKB
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
TNF-R1 signaling: a beautiful pathway.
PMID: 12040173
Science · 2002
1.00
2
NF-kappaB regulation in the immune system.
PMID: 12360211
Nat Rev Immunol · 2002
0.90
3
The IKKβ-USP30-ACLY Axis Controls Lipogenesis and Tumorigenesis.
PMID: 32221968
Hepatology · 2021
0.80
4
Molecular Mechanisms of Hypothalamic Insulin Resistance.
PMID: 30875909
Int J Mol Sci · 2019
0.80
5
African-ancestry-specific variant IKKβ p.Glu502Lys confers high lupus risk.
PMID: 41249843
Nat Genet · 2025
0.78