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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NFKB2
nuclear factor kappa B subunit 2
Chromosome 10 · 10q24.32
NCBI Gene: 4791Ensembl: ENSG00000077150.22HGNC: HGNC:7795UniProt: Q00653
346PubMed Papers
21Diseases
1Drugs
16Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedOncogeneTranscription Factor
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingRNA polymerase II cis-regulatory region sequence-specific DNA bindingpositive regulation of transcription by RNA polymerase IInucleusimmunodeficiency, common variable, 10immunodeficiency diseaseHodgkins lymphomaAlzheimer disease
✦AI Summary

NFKB2 encodes a transcription factor subunit that functions in both canonical and non-canonical NF-κB signaling pathways, playing crucial roles in immune regulation and disease pathogenesis. The protein exists primarily as p100, which undergoes proteolytic processing to generate the active p52 subunit 1. NFKB2 deficiency causes common variable immunodeficiency-10, with patients exhibiting increased susceptibility to viral infections, autoimmune disorders, ectodermal dysplasia, and pituitary involvement compared to NFKB1 deficiency patients 1. Functionally, NFKB2 deficiency impairs the development of AIRE-expressing medullary thymic epithelial cells, leading to production of neutralizing autoantibodies against type I interferons and predisposition to severe viral diseases including life-threatening COVID-19 pneumonia 2. In cancer contexts, NFKB2 promotes tumor progression through multiple mechanisms: it regulates melanoma growth via the BRD4/NFKB2/SPP1 pathway 3, facilitates immune evasion in colorectal cancer by promoting CD8+ T-cell exhaustion through the NFKB2-STAT2/PD-L1 axis 4, and contributes to pancreatic cancer metastasis when overexpressed 5. Additionally, NFKB2 serves as a specific transcription factor in rheumatoid arthritis synovial macrophages 6 and shows elevated expression in sudden sensorineural hearing loss patients, suggesting inflammatory involvement 7.

Sources cited
1
NFKB2 deficiency causes CVID-10 with viral infections, autoimmune disorders, and endocrine involvement
PMID: 38990428
2
NFKB2 deficiency impairs thymic development and causes type I interferon autoantibodies
PMID: 37938781
3
NFKB2 regulates melanoma progression through BRD4/SPP1 pathway
PMID: 33052224
4
NFKB2 promotes colorectal cancer immune evasion via STAT2/PD-L1 axis
PMID: 38660687
5
NFKB2 overexpression contributes to pancreatic cancer metastasis
PMID: 29364867
6
NFKB2 is a specific transcription factor in rheumatoid arthritis macrophages
PMID: 36940312
7
NFKB2 expression is elevated in sudden sensorineural hearing loss patients
PMID: 36773447
Disease Associationsⓘ21
immunodeficiency, common variable, 10Open Targets
0.78Strong
immunodeficiency diseaseOpen Targets
0.46Moderate
Hodgkins lymphomaOpen Targets
0.39Weak
Alzheimer diseaseOpen Targets
0.37Weak
deficiency in anterior pituitary function - variable immunodeficiency syndromeOpen Targets
0.37Weak
Deficiency in anterior pituitary function-variable immunodeficiency syndromeOpen Targets
0.37Weak
gastric carcinomaOpen Targets
0.37Weak
inborn error of immunityOpen Targets
0.37Weak
colon adenocarcinomaOpen Targets
0.37Weak
Parkinson diseaseOpen Targets
0.37Weak
cutaneous melanomaOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.37Weak
bronchiectasisOpen Targets
0.37Weak
cecum adenocarcinomaOpen Targets
0.37Weak
colorectal adenocarcinomaOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
gliomatosis cerebriOpen Targets
0.37Weak
lysosomal storage diseaseOpen Targets
0.37Weak
multiple sclerosisOpen Targets
0.37Weak
neuroinflammatory disorderOpen Targets
0.37Weak
Immunodeficiency, common variable, 10UniProt
Pathogenic Variants16
NM_001322934.2(NFKB2):c.2594A>G (p.Asp865Gly)Pathogenic
Immunodeficiency, common variable, 10
★★☆☆2025→ Residue 865
NM_001322934.2(NFKB2):c.1469+1G>TPathogenic
Inherited Immunodeficiency Diseases|not provided
★★☆☆2023
NM_001322934.2(NFKB2):c.2611C>T (p.Gln871Ter)Pathogenic
not provided|Immunodeficiency, common variable, 10
★★☆☆2020→ Residue 871
NM_001322934.2(NFKB2):c.2596_2597del (p.Ser866fs)Pathogenic
Immunodeficiency, common variable, 10
★☆☆☆2025→ Residue 866
NM_001322934.2(NFKB2):c.1416_1417del (p.Leu473fs)Likely pathogenic
not provided
★☆☆☆2024→ Residue 473
NM_001322934.2(NFKB2):c.2609G>A (p.Ser870Asn)Likely pathogenic
not provided
★☆☆☆2023→ Residue 870
NM_001322934.2(NFKB2):c.1359_1363dup (p.Gln455fs)Likely pathogenic
Immunodeficiency, common variable, 10
★☆☆☆2022→ Residue 455
NM_001322934.2(NFKB2):c.2595_2596del (p.Asp865fs)Likely pathogenic
Immunodeficiency, common variable, 10
★☆☆☆2021→ Residue 865
NM_001322934.2(NFKB2):c.2602_2605dup (p.Gly869fs)Pathogenic
Immunodeficiency, common variable, 10
★☆☆☆2020→ Residue 869
NM_001322934.2(NFKB2):c.104-1G>CLikely pathogenic
Immunodeficiency, common variable, 10
★☆☆☆2020
NM_001322934.2(NFKB2):c.937C>T (p.Arg313Ter)Pathogenic
not provided
★☆☆☆2019→ Residue 313
NM_001322934.2(NFKB2):c.1903C>T (p.Arg635Ter)Pathogenic
Inherited Immunodeficiency Diseases
★☆☆☆2019→ Residue 635
NM_001322934.2(NFKB2):c.2576_2580del (p.Thr859fs)Likely pathogenic
Immunodeficiency, common variable, 10
★☆☆☆2018→ Residue 859
NM_001322934.2(NFKB2):c.2173C>T (p.Arg725Ter)Likely pathogenic
NFKB2-related disorder
☆☆☆☆2024→ Residue 725
NM_001322934.2(NFKB2):c.2556_2563del (p.Arg853fs)Pathogenic
Immunodeficiency, common variable, 10
☆☆☆☆2014→ Residue 853
NM_001322934.2(NFKB2):c.2564del (p.Lys855fs)Pathogenic
Immunodeficiency, common variable, 1|Immunodeficiency, common variable, 10
☆☆☆☆2013→ Residue 855
View on ClinVar ↗
Drug Targets1
EDASALONEXENTPhase III
Nuclear factor NF-kappa-B complex inhibitor
Related Genes
BCL3Protein interaction100%MAP3K8Protein interaction100%ETS1Protein interaction100%LTBProtein interaction100%LTBRProtein interaction100%NFKB1Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
89%
Liver
46%
Ovary
44%
Heart
22%
Brain
8%
Gene Interaction Network
Click a node to explore
NFKB2BCL3MAP3K8ETS1LTBLTBRNFKB1
PROTEIN STRUCTURE
Preparing viewer…
PDB1A3Q · 2.10 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.31Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.21 [0.15–0.31]
RankingsWhere NFKB2 stands among ~20K protein-coding genes
  • #924of 20,598
    Most Researched346 · top 5%
  • #2,380of 5,498
    Most Pathogenic Variants16
  • #1,203of 17,882
    Most Constrained (LOEUF)0.31 · top 10%
Genes detectedNFKB2
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Clinical, Immunological, and Genetic Features in Patients with NFKB1 and NFKB2 Mutations: a Systematic Review.
PMID: 38990428
J Clin Immunol · 2024
1.00
2
BET inhibitor suppresses melanoma progression
PMID: 33052224
Theranostics · 2020
0.90
3
Nasopharyngeal carcinoma cells promote regulatory T cell development and suppressive activity via CD70-CD27 interaction.
PMID: 37024479
Nat Commun · 2023
0.80
4
Evolutionary routes and KRAS dosage define pancreatic cancer phenotypes.
PMID: 29364867
Nature · 2018
0.70
5
[Not Available].
PMID: 38660687
MedComm (2020) · 2024
0.60