IKBKB inhibitor of nuclear factor kappa B kinase subunit beta

Gene ID: 3551, updated on 7-Apr-2024
Gene type: protein coding
Also known as: IKK2; IKKB; IKK-2; IMD15; IMD15A; IMD15B; NFKBIKB; IKK-beta

Summary

The protein encoded by this gene phosphorylates the inhibitor in the inhibitor/NF-kappa-B complex, causing dissociation of the inhibitor and activation of NF-kappa-B. The encoded protein itself is found in a complex of proteins. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Sep 2011]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Immunodeficiency 15a MedGen: C4748694OMIM: 618204GeneReviews: Not available	See labs
Severe combined immunodeficiency due to IKK2 deficiency MedGen: C4747743OMIM: 615592GeneReviews: Not available	See labs

Genomic context

Location:: 8p11.21

Sequence:: Chromosome: 8; NC_000008.11 (42271302..42332460)

Total number of exons:: 24

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for IKBKB variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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