NFKBIE NFKB inhibitor epsilon [Homo sapiens (human)] - Gene

Summary

Official Symbol: NFKBIEprovided by HGNC
Official Full Name: NFKB inhibitor epsilonprovided by HGNC
Primary source: HGNC:HGNC:7799
See related: Ensembl:ENSG00000146232 MIM:604548; AllianceGenome:HGNC:7799
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IKBE
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]
Expression: Broad expression in bone marrow (RPKM 9.4), spleen (RPKM 9.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (44258166..44265551, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (44092317..44099688, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (44225903..44233288, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

IkappaBepsilon deficiency accelerates disease development in chronic lymphocytic leukemia.
Title: IκBε deficiency accelerates disease development in chronic lymphocytic leukemia.
NFKBIE mutations are selected by the tumor microenvironment and contribute to immune escape in chronic lymphocytic leukemia.
Title: NFKBIE mutations are selected by the tumor microenvironment and contribute to immune escape in chronic lymphocytic leukemia.
identify NFKBIE aberrations as a common genetic event across B-cell malignancies and highlight NFKBIE deletions as a novel poor-prognostic marker in PMBL.
Title: Frequent NFKBIE deletions are associated with poor outcome in primary mediastinal B-cell lymphoma.
We suggest that the impairment of NFKBIE gene function can reduce the uptake of methotrexate into cells, suggesting that the gene is an important factor for rheumatoid arthritis outcome
Title: Impaired NFKBIE gene function decreases cellular uptake of methotrexate by down-regulating SLC19A1 expression in a human rheumatoid arthritis cell line.
A NFKBIE polymorphism was associated with increased risk of pneumococcal meningitis.
Title: Genetic Variation in NFKBIE Is Associated With Increased Risk of Pneumococcal Meningitis in Children.
results show that Gal-1 acts by inhibiting the stimulation of the LPS-induced IkappaBzeta expression, an NF-kappaB regulator involved in IL-6 gene transcription.
Title: Galectin-1 reduced the effect of LPS on the IL-6 production in decidual cells by inhibiting LPS on the stimulation of IκBζ.
Newly identified alterations included recurrent promoter mutations of NFKBIE, encoding NF-kappaB inhibitor varepsilon (IkappaBvarepsilon), in 14.5% of samples of desmoplastic melanoma
Title: Exome sequencing of desmoplastic melanoma identifies recurrent NFKBIE promoter mutations and diverse activating mutations in the MAPK pathway.
IkappaBepsilon has a role in NF-kappaB regulation in aggressive chronic lymphocytic leukemia
Title: Functional loss of IκBε leads to NF-κB deregulation in aggressive chronic lymphocytic leukemia.
Vitamin C forestalls cigarette smoke induced NF-kappaB activation in alveolar epithelial cells.
Title: Vitamin C forestalls cigarette smoke induced NF-κB activation in alveolar epithelial cells.
we identified two gene loci associated with rheumatoid arthritis susceptibility- NFKBIE and RTKN2
Title: Functional variants in NFKBIE and RTKN2 involved in activation of the NF-κB pathway are associated with rheumatoid arthritis in Japanese.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Functional variants in NFKBIE and RTKN2 involved in activation of the NF-&#x003ba;B pathway are associated with rheumatoid arthritis in Japanese. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetics of rheumatoid arthritis contributes to biology and drug discovery. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH15775 (e-PCR)
- UniSTS:58135

NFKBIE_3084 (e-PCR)
- UniSTS:462370

NoName (e-PCR)
- UniSTS:489771

SHGC-32848 (e-PCR)
- UniSTS:45634

SHGC-156273 (e-PCR)
- UniSTS:184433

D6S1157E (e-PCR)
- UniSTS:76787

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cytoplasmic sequestering of transcription factor	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in fibrillar center	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: NF-kappa-B inhibitor epsilon

Names: I-kappa-B-epsilon; NF-kappa-BIE; ikB-E; ikB-epsilon; ikappaBepsilon; nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_004556.3 → NP_004547.3 NF-kappa-B inhibitor epsilon

Status: REVIEWED

Source sequence(s)

AL139392, BC063609, U91616

Consensus CDS

CCDS34463.2

UniProtKB/TrEMBL

Q7LC14, Q96F31

Related

ENSP00000480216.1, ENST00000619360.6

Conserved Domains (3) summary

COG0666
Location:182 → 328

ANKYR; Ankyrin repeat [Signal transduction mechanisms]

sd00045
Location:231 → 261

ANK; ANK repeat [structural motif]

pfam12796
Location:149 → 209

Ank_2; Ankyrin repeats (3 copies)