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NFKB2 nuclear factor kappa B subunit 2

Gene ID: 4791, updated on 11-Apr-2024
Gene type: protein coding
Also known as: p52; p100; H2TF1; LYT10; CVID10; LYT-10; NF-kB2; p49/p100

Summary

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Immunodeficiency, common variable, 10
MedGen: C3809991OMIM: 615577GeneReviews: Not available
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Genomic context

Location:
10q24.32
Sequence:
Chromosome: 10; NC_000010.11 (102394110..102402529)
Total number of exons:
24

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