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50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NFKBIA
NFKB inhibitor alpha
Chromosome 14 · 14q13.2
NCBI Gene: 4792Ensembl: ENSG00000100906.13HGNC: HGNC:7797UniProt: P25963
719PubMed Papers
21Diseases
0Drugs
11Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Highly Studied
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of lipid storagenegative regulation of cholesterol transportnegative regulation of transcription by RNA polymerase IIprotein bindingectodermal dysplasia and immunodeficiency 2Hypohidrotic ectodermal dysplasia with immunodeficiencypsoriasisasthma
✦AI Summary

NFKBIA encodes IκBα, a critical negative regulator of NF-κB signaling that inhibits dimeric NF-κB/REL complexes by masking their nuclear localization signals and sequestering them in the cytoplasm 1. Upon inflammatory stimulation, IκBα becomes phosphorylated, triggering ubiquitination and degradation, which permits NF-κB translocation to the nucleus for transcription activation 2. NFKBIA plays a central role in immune homeostasis and inflammatory disease prevention by controlling NF-κB-dependent expression of immune response genes 3. Genetic variants in NFKBIA associate with cancer susceptibility and inflammatory diseases. The rs3138053 polymorphism increases cancer risk overall, particularly hepatocarcinoma susceptibility, while rs696 exhibits protective effects against Hodgkin lymphoma and overall tumorigenesis 4. The -826C/T polymorphism associates with autoimmune and inflammatory disease development 5. In gliomas, reduced NFKBIA expression correlates with advanced tumor grade and poorer overall survival, positioning it as an independent prognostic biomarker 6. NFKBIA mutations cause ectodermal dysplasia and immunodeficiency 2, highlighting its essential role in immune function. These findings establish NFKBIA as both a fundamental regulator of immune homeostasis and a potential therapeutic target across inflammatory, autoimmune, and malignant diseases.

Sources cited
1
IκBα inhibits NF-κB/REL complexes by masking nuclear localization signals
PMID: 1493333
2
IκBα phosphorylation and degradation enables NF-κB nuclear translocation
PMID: 7479976
3
NF-κB/REL family central role in coordinating immune response genes
PMID: 12360211
4
NFKBIA rs3138053 polymorphism increases cancer susceptibility; rs696 is protective
PMID: 26488500
5
NFKBIA -826C/T polymorphism associates with autoimmune and inflammatory diseases
PMID: 20495844
6
Low NFKBIA expression correlates with advanced glioma grade and poor survival
PMID: 27538656
Disease Associationsⓘ21
ectodermal dysplasia and immunodeficiency 2Open Targets
0.75Strong
Hypohidrotic ectodermal dysplasia with immunodeficiencyOpen Targets
0.68Moderate
psoriasisOpen Targets
0.53Moderate
asthmaOpen Targets
0.53Moderate
Crohn's diseaseOpen Targets
0.51Moderate
diffuse large B-cell lymphomaOpen Targets
0.44Moderate
inflammatory bowel diseaseOpen Targets
0.42Moderate
childhood onset asthmaOpen Targets
0.40Weak
psoriasis vulgarisOpen Targets
0.40Weak
lymphomaOpen Targets
0.37Weak
dengue diseaseOpen Targets
0.37Weak
severe acute respiratory syndromeOpen Targets
0.37Weak
inborn error of immunityOpen Targets
0.37Weak
severe combined immunodeficiencyOpen Targets
0.37Weak
multiple myelomaOpen Targets
0.35Weak
psoriatic arthritisOpen Targets
0.34Weak
immunodeficiency diseaseOpen Targets
0.34Weak
HerniaOpen Targets
0.33Weak
respiratory system diseaseOpen Targets
0.33Weak
lower respiratory tract diseaseOpen Targets
0.33Weak
Ectodermal dysplasia and immunodeficiency 2UniProt
Pathogenic Variants11
NM_020529.3(NFKBIA):c.25C>T (p.Gln9Ter)Pathogenic
not provided|Ectodermal dysplasia and immunodeficiency 2
★★☆☆2024→ Residue 9
NM_020529.3(NFKBIA):c.95G>A (p.Ser32Asn)Pathogenic
Ectodermal dysplasia and immunodeficiency 2|not provided
★★☆☆2022→ Residue 32
NM_020529.3(NFKBIA):c.106T>G (p.Ser36Ala)Likely pathogenic
Ectodermal dysplasia and immunodeficiency 2
★☆☆☆2024→ Residue 36
NM_020529.3(NFKBIA):c.-49_87del (p.Met1fs)Likely pathogenic
not provided
★☆☆☆2019→ Residue 1
NM_020529.3(NFKBIA):c.28G>T (p.Glu10Ter)Pathogenic
Ectodermal dysplasia and immunodeficiency 2
★☆☆☆→ Residue 10
NM_020529.3(NFKBIA):c.101T>C (p.Leu34Pro)Pathogenic
Ectodermal dysplasia and immunodeficiency 2
☆☆☆☆2023→ Residue 34
NM_020529.3(NFKBIA):c.96C>G (p.Ser32Arg)Pathogenic
Ectodermal dysplasia and immunodeficiency 2
☆☆☆☆2023→ Residue 32
NM_020529.3(NFKBIA):c.107C>A (p.Ser36Tyr)Pathogenic
Ectodermal dysplasia and immunodeficiency 2
☆☆☆☆2018→ Residue 36
NM_020529.3(NFKBIA):c.94A>G (p.Ser32Gly)Pathogenic
Ectodermal dysplasia and immunodeficiency 2
☆☆☆☆2018→ Residue 32
NM_020529.3(NFKBIA):c.40G>T (p.Glu14Ter)Pathogenic
Ectodermal dysplasia and immunodeficiency 2
☆☆☆☆2008→ Residue 14
NM_020529.3(NFKBIA):c.95G>T (p.Ser32Ile)Pathogenic
Ectodermal dysplasia and immunodeficiency 2
☆☆☆☆2004→ Residue 32
View on ClinVar ↗
Related Genes
UBE2D2Protein interaction100%SKP1Protein interaction100%UBE2D1Protein interaction100%BTRCProtein interaction100%CUL1Protein interaction100%IKBKGProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
43%
Ovary
23%
Liver
22%
Heart
11%
Brain
6%
Gene Interaction Network
Click a node to explore
NFKBIAUBE2D2SKP1UBE2D1BTRCCUL1IKBKG
PROTEIN STRUCTURE
Preparing viewer…
PDB6Y1J · 1.13 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.50Moderately Constrained
pLIⓘ
0.98Intolerant
Observed/Expected LoF0.29 [0.18–0.50]
RankingsWhere NFKBIA stands among ~20K protein-coding genes
  • #295of 20,598
    Most Researched719 · top 5%
  • #2,723of 5,498
    Most Pathogenic Variants11
  • #2,992of 17,882
    Most Constrained (LOEUF)0.50 · top quartile
Genes detectedNFKBIA
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
NF-kappaB regulation in the immune system.
PMID: 12360211
Nat Rev Immunol · 2002
1.00
2
Common Polymorphisms in the NFKBIA Gene and Cancer Susceptibility: A Meta-Analysis.
PMID: 26488500
Med Sci Monit · 2015
0.90
3
HLA, NFKB1 and NFKBIA gene polymorphism profile in autoimmune diabetes mellitus patients.
PMID: 17318773
Exp Clin Endocrinol Diabetes · 2007
0.82
4
Effects of NFKB1 and NFKBIA gene polymorphisms on susceptibility to environmental factors and the clinicopathologic development of oral cancer.
PMID: 22509384
PLoS One · 2012
0.80
5
Association of the NFKBIA gene polymorphisms with susceptibility to autoimmune and inflammatory diseases: a meta-analysis.
PMID: 20495844
Inflamm Res · 2011
0.80