CHUK

Chr 10

component of inhibitor of nuclear factor kappa B kinase complex

Also known as: BPS2, IKBKA, IKK-1, IKK-alpha, IKK1, IKKA, NFKBIKA, TCF16

NCBI Gene: 1147ENSG00000213341UniProt: O15111

This gene encodes a member of the serine/threonine protein kinase family. The encoded protein, a component of a cytokine-activated protein complex that is an inhibitor of the essential transcription factor NF-kappa-B complex, phosphorylates sites that trigger the degradation of the inhibitor via the ubiquination pathway, thereby activating the transcription factor. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCocoon syndrome
UniProtBartsocas-Papas syndrome 2

Clinical highlights

Gene-disease validity (ClinGen)
Bartsocas-Papas syndrome 2 · ARModerateconsider for supplementary testing
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
65
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.28
LOEUF· LoF intol.
LOF
Mechanism· G2P
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.28LOEUF
pLI 0.994
Z-score 5.34
OE 0.15 (0.09–0.28)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
2.78Z-score
OE missense 0.61 (0.55–0.68)
242 obs / 398.2 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.15 (0.09–0.28)
0≤0.351.4
Missense OE?0.61 (0.55–0.68)
0≤0.61.4
Synonymous OE?0.90
0≤1.21.6
LoF obs/exp: 7 / 46.1Missense obs/exp: 242 / 398.2Syn Z: 0.93

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CHUK · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients