NFKBIE NFKB inhibitor epsilon
Gene ID: 4794, updated on 5-Mar-2024Gene type: protein coding
Also known as: IKBE
- See all available tests in GTR for this gene
- Go to complete Gene record for NFKBIE
- Go to Variation Viewer for NFKBIE variants
Summary
The protein encoded by this gene binds to components of NF-kappa-B, trapping the complex in the cytoplasm and preventing it from activating genes in the nucleus. Phosphorylation of the encoded protein targets it for destruction by the ubiquitin pathway, which activates NF-kappa-B by making it available to translocate to the nucleus. [provided by RefSeq, Sep 2011]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Functional variants in NFKBIE and RTKN2 involved in activation of the NF-κB pathway are associated with rheumatoid arthritis in Japanese. GeneReviews: Not available | |
Genetics of rheumatoid arthritis contributes to biology and drug discovery. GeneReviews: Not available | |
Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. GeneReviews: Not available |
Genomic context
- Location:
- 6p21.1
- Sequence:
- Chromosome: 6; NC_000006.12 (44258166..44265551, complement)
- Total number of exons:
- 6
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for NFKBIE variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.