NFKB2

Chr 10AD

nuclear factor kappa B subunit 2

Also known as: CVID10, H2TF1, LYT-10, LYT10, NF-kB2, p100, p49/p100, p52

NCBI Gene: 4791ENSG00000077150UniProt: Q00653OMIM: 164012

This gene encodes a subunit of the transcription factor complex nuclear factor-kappa-B (NFkB). The NFkB complex is expressed in numerous cell types and functions as a central activator of genes involved in inflammation and immune function. The protein encoded by this gene can function as both a transcriptional activator or repressor depending on its dimerization partner. The p100 full-length protein is co-translationally processed into a p52 active form. Chromosomal rearrangements and translocations of this locus have been observed in B cell lymphomas, some of which may result in the formation of fusion proteins. There is a pseudogene for this gene on chromosome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Immunodeficiency, common variable, 10MIM #615577
AD

Clinical highlights

Gene-disease validity (ClinGen)
immunodeficiency, common variable, 10 · ADDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
74
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.16
LOEUF· LoF intol.
Multiple*
Mechanism· predicted
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GeneReview available — NFKB2
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.16LOEUF
pLI 1.000
Z-score 6.00
OE 0.06 (0.03–0.16)
Highly constrained

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

Missense Constraint?
3.94Z-score
OE missense 0.51 (0.46–0.57)
265 obs / 516.9 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.06 (0.03–0.16)
0≤0.351.4
Missense OE?0.51 (0.46–0.57)
0≤0.61.4
Synonymous OE?0.82
0≤1.21.6
LoF obs/exp: 3 / 47.7Missense obs/exp: 265 / 516.9Syn Z: 2.10

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NFKB2 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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