NFKB2 Chromosome 10
Nuclear factor kappa B subunit 2
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What This Gene Does
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]
Gene Info
Gene Group
"Ankyrin repeat domain containing|NF-kappa B complex subunits|IPT domain containing"
Locus Type
gene with protein product
Location
10q24.32
Ensembl
ENSG00000077150
Associated Conditions (14)
Immunodeficiency
common variable
10
Inborn genetic diseases
NFKB2-related disorder
Colon adenocarcinoma
Uterine carcinosarcoma
Cervical cancer
Familial cancer of breast
Sarcoma
Malignant tumor of esophagus
Uveal melanoma
Inherited Immunodeficiency Diseases
1
Key Variants
RS1182148645
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 10
Health Risk
RS1274576794
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 10
Health Risk
RS1350425608
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 10
Health Risk
RS1565205722
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 10
Health Risk
RS200227171
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 10
Health Risk
RS201550645
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 10
Health Risk
RS202001697
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 10
Health Risk
RS2135437164
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 10
Health Risk
RS367889547
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 10
Health Risk
RS374942288
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 10
Health Risk
RS563687760
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 10
Health Risk
RS727502788
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 10
Health Risk
All Variants (28)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1182148645 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 10 |
| RS1274576794 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 10 |
| RS1350425608 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 10 |
| RS1565205722 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 10 |
| RS200227171 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 10 |
| RS201550645 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 10 |
| RS202001697 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 10 |
| RS2135437164 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 10 |
| RS367889547 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 10 |
| RS374942288 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 10 |
| RS563687760 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 10 |
| RS727502788 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 10 |
| RS777839462 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 10 |
| RS1064795232 | Health Risk | Likely pathogenic | — |
| RS1565214594 | Health Risk | Likely pathogenic | Immunodeficiency, common variable, 10 |
| RS2061116343 | Health Risk | Likely pathogenic | Immunodeficiency, common variable, 10 |
| RS2061278560 | Health Risk | Likely pathogenic | Immunodeficiency, common variable, 10 |
| RS2544591393 | Health Risk | Likely pathogenic | Immunodeficiency, common variable, 10 |
| RS747113965 | Health Risk | Likely pathogenic | NFKB2-related disorder, NFKB2-related disorder |
| RS1565207233 | Health Risk | Pathogenic | — |
| RS1565214993 | Health Risk | Pathogenic | Immunodeficiency, common variable, 10 |
| RS1589866171 | Health Risk | Pathogenic | Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases |
| RS2061279365 | Health Risk | Pathogenic | Immunodeficiency, common variable, 10 |
| RS2135443636 | Health Risk | Pathogenic | Immunodeficiency, common variable, 10 |
| RS397514331 | Health Risk | Pathogenic | Immunodeficiency, common variable, 1 |
| RS727502786 | Health Risk | Pathogenic | Immunodeficiency, common variable, 10 |
| RS748910652 | Health Risk | Pathogenic | Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases |
| RS727502787 | Health Risk | Pathogenic/Likely pathogenic | Immunodeficiency, common variable, 10 |