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.
CHUK
component of inhibitor of nuclear factor kappa B kinase complex
Chromosome 10 · 10q24.31
NCBI Gene: 1147Ensembl: ENSG00000213341.12HGNC: HGNC:1974UniProt: O15111
568PubMed Papers
22Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneKinase
RESEARCH IMPACT
Highly Studied
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein kinase activityprotein serine/threonine kinase activityprotein bindingIkappaB kinase activitycocoon syndromeCOVID-19Bartsocas-Papas syndrome 1neurodegenerative disease
✦AI Summary

CHUK (component of inhibitor of nuclear factor kappa B kinase complex) is a serine kinase essential for NF-κB signaling activation. In the canonical pathway, CHUK phosphorylates inhibitors of NF-κB (IκBs) on serine residues, enabling their polyubiquitination and proteasomal degradation, allowing free NF-κB nuclear translocation and transcription of immune response genes 1. CHUK simultaneously provides negative feedback by phosphorylating TAXBP1, promoting assembly of the A20/TNFAIP3 ubiquitin-editing complex to limit inflammatory activation. In the non-canonical pathway, CHUK phosphorylates NFKB2/p100 to generate RelB-p52 complexes regulating B-cell survival and lymphoid organogenesis. Within the nucleus, CHUK phosphorylates CREBBP and histone H3, modulating chr10 accessibility at NF-κB-responsive promoters to enhance transcriptional activity. CHUK activation occurs in response to TNF, bacterial/viral products, and cellular stresses 2. Dysregulation contributes to disease pathogenesis: CHUK mutations cause Bartsocas-Papas syndrome 2, characterized by severe fetal malformations including absent limbs and defective epidermis 3. Genetic variants in the CHUK locus associate with nonalcoholic fatty liver disease progression from steatosis to hepatic inflammation 4, and elevated CHUK expression correlates with ischemic stroke risk, partly through effects on blood pressure and lipid metabolism 5.

Sources cited
1
NF-κB/REL family central role in immune response gene expression and inflammatory disease
PMID: 12360211
2
TNF-R1 signaling activation and pathogenic roles in multiple diseases
PMID: 12040173
3
Mutant CHUK causes autosomal recessive Bartsocas-Papas syndrome with fetal malformations
PMID: 20961246
4
CHUK gene cluster variants associate with nonalcoholic fatty liver disease and hepatic inflammation
PMID: 23477746
5
CHUK expression and polymorphisms associated with ischemic stroke risk and metabolic factors
PMID: 33992196
Disease Associationsⓘ22
cocoon syndromeOpen Targets
0.67Moderate
COVID-19Open Targets
0.46Moderate
Bartsocas-Papas syndrome 1Open Targets
0.40Moderate
neurodegenerative diseaseOpen Targets
0.37Weak
neuroinflammatory disorderOpen Targets
0.37Weak
type 2 diabetes mellitusOpen Targets
0.27Weak
anorexia nervosaOpen Targets
0.21Weak
attention deficit hyperactivity disorderOpen Targets
0.21Weak
genetic disorderOpen Targets
0.19Weak
psoriasisOpen Targets
0.15Weak
neoplasmOpen Targets
0.11Weak
non-small cell lung carcinomaOpen Targets
0.10Weak
prostate cancerOpen Targets
0.08Suggestive
oral squamous cell carcinomaOpen Targets
0.08Suggestive
triple-negative breast cancerOpen Targets
0.08Suggestive
squamous cell carcinomaOpen Targets
0.08Suggestive
hepatitis C virus infectionOpen Targets
0.08Suggestive
liver cancerOpen Targets
0.08Suggestive
dilated cardiomyopathyOpen Targets
0.08Suggestive
squamous cell lung carcinomaOpen Targets
0.07Suggestive
Bartsocas-Papas syndrome 2UniProt
Cocoon syndromeUniProt
Pathogenic Variants6
NM_001278.5(CHUK):c.475-2A>CLikely pathogenic
not provided
★☆☆☆2025
NM_001278.5(CHUK):c.316-2A>GLikely pathogenic
not provided
★☆☆☆2025
NM_001278.5(CHUK):c.1249C>T (p.Gln417Ter)Pathogenic
not provided
★☆☆☆2022→ Residue 417
NM_001278.5(CHUK):c.427C>T (p.Arg143Ter)Pathogenic
not provided
★☆☆☆2021→ Residue 143
NM_001278.5(CHUK):c.934-2A>GPathogenic
Bartsocas-Papas syndrome 2
☆☆☆☆2021
NM_001278.5(CHUK):c.1264C>T (p.Gln422Ter)Pathogenic
Cocoon syndrome
☆☆☆☆2010→ Residue 422
View on ClinVar ↗
Related Genes
CASP8Protein interaction100%TRAF5Protein interaction100%TNFProtein interaction100%RIPK1Protein interaction100%TRAF2Protein interaction100%MAP3K7Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
56%
Liver
53%
Lung
49%
Heart
42%
Ovary
34%
Gene Interaction Network
Click a node to explore
CHUKCASP8TRAF5TNFRIPK1TRAF2MAP3K7
PROTEIN STRUCTURE
Preparing viewer…
PDB3BRT · 2.25 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.61LoF Tolerant
pLIⓘ
0.39Tolerant
Observed/Expected LoF0.40 [0.27–0.61]
RankingsWhere CHUK stands among ~20K protein-coding genes
  • #421of 20,598
    Most Researched568 · top 5%
  • #3,285of 5,498
    Most Pathogenic Variants6
  • #4,229of 17,882
    Most Constrained (LOEUF)0.61 · top quartile
Genes detectedCHUK
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
CHUK/IKK-α loss in lung epithelial cells enhances NSCLC growth associated with HIF up-regulation.
PMID: 31792060
Life Sci Alliance · 2019
0.84
4
Bioinformatic Analysis of
PMID: 39337357
Int J Mol Sci · 2024
0.80
5
Association of CHUK gene polymorphism and ischemic stroke in the Han Chinese population.
PMID: 33992196
J Clin Neurosci · 2021
0.80