Alt. symbols: IKK2 | NFKBIKB | IKK-beta | IKKB

Approved name: inhibitor of nuclear factor kappa B kinase subunit beta
Alt. names: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta

Location: 8p11.21: 42271302 - 42332460 (+)
Gene type: protein_coding, 33 transcripts.

Scores: LoFtool: 0.698000 | pLI: 0.99878670 | LOEUF: 0.290

HGNC: 5960

NCBI: 3551, RefSeq: NG_041793.1

Ensembl: ENSG00000104365.16

LRG_1241 | Status: public

OMIM: 603258

Expression | ProteinAtlas

IKBKB is a serine kinase that plays an essential role in the NF-kappa-B signalling pathway, which is activated by multiple stimuli such as inflammatory cytokines, bacterial or viral products, DNA damage or other cellular stress (PubMed:30337470). IKBKB acts as part of the canonical IKK complex in the conventional pathway of NF-kappa-B activation.

Biallelic nonsense or insertion mutations in IKBKB leading to a loss of IKK2 protein expression result in severe combined immunodeficiency (SCID): Immunodeficiency 15B [MIM:615592]; whereas monoallelic gain-of-function mutations, such as the p.Val203Ile (Cardinez et al. 2018, PMID:30337470), can cause a less severe form combined immune deficiency, namely Immunodeficiency 15A [MIM:618204]. The p.Val203Ile variant is the only GOF variant known to date, and it was found in four cases from two unrel ated families. [Load More]