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] See more...

Aliases for NFKBIE Gene

Aliases for NFKBIE Gene

  • NFKB Inhibitor Epsilon 2 3 5
  • NF-Kappa-B Inhibitor Epsilon 2 3 4
  • Nuclear Factor Of Kappa Light Polypeptide Gene Enhancer In B-Cells Inhibitor, Epsilon 2 3
  • I-Kappa-B-Epsilon 3 4
  • IkappaBepsilon 3 4
  • NF-Kappa-BIE 3 4
  • IkB-Epsilon 3 4
  • IkB-E 3 4
  • IKBE 3 4

External Ids for NFKBIE Gene

Previous GeneCards Identifiers for NFKBIE Gene

  • GC06M044224
  • GC06M044273
  • GC06M044334
  • GC06M044226
  • GC06M043947

Summaries for NFKBIE Gene

Entrez Gene Summary for NFKBIE Gene

  • 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]

GeneCards Summary for NFKBIE Gene

NFKBIE (NFKB Inhibitor Epsilon) is a Protein Coding gene. Diseases associated with NFKBIE include Primary Mediastinal B-Cell Lymphoma and Malignant Spindle Cell Melanoma. Among its related pathways are Downstream signaling events of B Cell Receptor (BCR) and ERK Signaling. An important paralog of this gene is BCL3.

UniProtKB/Swiss-Prot Summary for NFKBIE Gene

  • Inhibits NF-kappa-B by complexing with and trapping it in the cytoplasm. Inhibits DNA-binding of NF-kappa-B p50-p65 and p50-c-Rel complexes.

Gene Wiki entry for NFKBIE Gene

Additional gene information for NFKBIE Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NFKBIE Gene

Genomics for NFKBIE Gene

GeneHancer (GH) Regulatory Elements for NFKBIE Gene

Promoters and enhancers for NFKBIE Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NFKBIE on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NFKBIE

Top Transcription factor binding sites by QIAGEN in the NFKBIE gene promoter:
  • c-Myb
  • E47
  • Egr-2
  • Egr-4
  • Elk-1
  • GATA-3
  • IRF-2
  • ISGF-3
  • MyoD
  • RORalpha1

Genomic Locations for NFKBIE Gene

Genomic Locations for NFKBIE Gene
chr6:44,258,166-44,265,788
(GRCh38/hg38)
Size:
7,623 bases
Orientation:
Minus strand
chr6:44,225,903-44,233,525
(GRCh37/hg19)
Size:
7,623 bases
Orientation:
Minus strand

Genomic View for NFKBIE Gene

Genes around NFKBIE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NFKBIE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NFKBIE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NFKBIE Gene

Proteins for NFKBIE Gene

  • Protein details for NFKBIE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00221-IKBE_HUMAN
    Recommended name:
    NF-kappa-B inhibitor epsilon
    Protein Accession:
    O00221
    Secondary Accessions:
    • Q5T9V9

    Protein attributes for NFKBIE Gene

    Size:
    500 amino acids
    Molecular mass:
    52864 Da
    Quaternary structure:
    • Interacts with RELA, REL, NFKB1 nuclear factor NF-kappa-B p50 subunit and NFKB2 nuclear factor NF-kappa-B p52 subunit.
    SequenceCaution:
    • Sequence=AAC51216.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for NFKBIE Gene

Post-translational modifications for NFKBIE Gene

  • Serine phosphorylated; followed by proteasome-dependent degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NFKBIE Gene

Antibody Products

No data available for DME Specific Peptides for NFKBIE Gene

Domains & Families for NFKBIE Gene

Gene Families for NFKBIE Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for NFKBIE Gene

Suggested Antigen Peptide Sequences for NFKBIE Gene

GenScript: Design optimal peptide antigens:
  • I-kappa-B-epsilon (IKBE_HUMAN)
  • Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon (Q5T9W0_HUMAN)
  • cDNA FLJ61640, highly similar to NF-kappa-B inhibitor epsilon (Q7LC14_HUMAN)
  • NFKBIE protein (Q96F31_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00221

UniProtKB/Swiss-Prot:

IKBE_HUMAN :
  • Belongs to the NF-kappa-B inhibitor family.
Family:
  • Belongs to the NF-kappa-B inhibitor family.
genes like me logo Genes that share domains with NFKBIE: view

Function for NFKBIE Gene

Molecular function for NFKBIE Gene

UniProtKB/Swiss-Prot Function:
Inhibits NF-kappa-B by complexing with and trapping it in the cytoplasm. Inhibits DNA-binding of NF-kappa-B p50-p65 and p50-c-Rel complexes.

Phenotypes From GWAS Catalog for NFKBIE Gene

Gene Ontology (GO) - Molecular Function for NFKBIE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI,IEA 14743216
genes like me logo Genes that share ontologies with NFKBIE: view
genes like me logo Genes that share phenotypes with NFKBIE: view

Animal Models for NFKBIE Gene

MGI Knock Outs for NFKBIE:

Animal Model Products

miRNA for NFKBIE Gene

miRTarBase miRNAs that target NFKBIE

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NFKBIE Gene

Localization for NFKBIE Gene

Subcellular locations from UniProtKB/Swiss-Prot for NFKBIE Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NFKBIE gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
golgi apparatus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoli fibrillar center (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NFKBIE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm TAS 9135156
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with NFKBIE: view

Pathways & Interactions for NFKBIE Gene

PathCards logo

SuperPathways for NFKBIE Gene

SuperPathway Contained pathways
1 TNFR1 Pathway
.87
.87
.56
.55
.52
.46
.42
.40
2 4-1BB Pathway
.54
.54
.48
.46
.37
.36
.30
3 RANK Signaling in Osteoclasts
.92
.92
.45
.39
.38
4 PEDF Induced Signaling
.94
.94
.73
.61
.43
5 Toll Comparative Pathway
.61
.61
.46
.39
.34
genes like me logo Genes that share pathways with NFKBIE: view

Pathways by source for NFKBIE Gene

2 BioSystems pathways for NFKBIE Gene
45 GeneGo (Thomson Reuters) pathways for NFKBIE Gene
  • Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway
  • Apoptosis and survival Anti-apoptotic TNFs/NF-kB/IAP pathway
  • Apoptosis and survival APRIL and BAFF signaling
  • Apoptosis and survival Lymphotoxin-beta receptor signaling
  • Apoptosis and survival TNFR1 signaling pathway
56 Qiagen pathways for NFKBIE Gene
  • 4-1BB Pathway
  • Activation of NF-KappaB by PKR
  • Activation of PKA through GPCR
  • Antioxidant Action of Vitamin-C
  • Apoptosis through Death Receptors
1 Cell Signaling Technology pathway for NFKBIE Gene

SIGNOR curated interactions for NFKBIE Gene

Inactivates:

Gene Ontology (GO) - Biological Process for NFKBIE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042942 D-serine transport IEA --
GO:0042994 cytoplasmic sequestering of transcription factor TAS 9135156
genes like me logo Genes that share ontologies with NFKBIE: view

Drugs & Compounds for NFKBIE Gene

No Compound Related Data Available

Transcripts for NFKBIE Gene

mRNA/cDNA for NFKBIE Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NFKBIE Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b
SP1:
SP2:
SP3: -

Relevant External Links for NFKBIE Gene

GeneLoc Exon Structure for
NFKBIE

Expression for NFKBIE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NFKBIE Gene

Protein differential expression in normal tissues from HIPED for NFKBIE Gene

This gene is overexpressed in Breast (34.2), Peripheral blood mononuclear cells (11.8), Blymphocyte (8.7), and Monocytes (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NFKBIE Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NFKBIE

SOURCE GeneReport for Unigene cluster for NFKBIE Gene:

Hs.458276

mRNA Expression by UniProt/SwissProt for NFKBIE Gene:

O00221-IKBE_HUMAN
Tissue specificity: Highly expressed in spleen, testis and lung, followed by kidney, pancreas, heart, placenta and brain. Also expressed in granulocytes and macrophages.

Evidence on tissue expression from TISSUES for NFKBIE Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with NFKBIE: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for NFKBIE Gene

Orthologs for NFKBIE Gene

This gene was present in the common ancestor of animals.

Orthologs for NFKBIE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NFKBIE 31 30
  • 99.33 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NFKBIE 31 30
  • 86.43 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NFKBIE 31 30
  • 84.72 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nfkbie 17 31 30
  • 82.41 (n)
rat
(Rattus norvegicus)
Mammalia Nfkbie 30
  • 82.27 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NFKBIE 31
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NFKBIE 31
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves NFKBIE 31 30
  • 66.37 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 17 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100145466 30
  • 60.08 (n)
Str.672 30
zebrafish
(Danio rerio)
Actinopterygii nfkbie 31 30
  • 53.35 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta cact 31
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 20 (a)
OneToMany
Species where no ortholog for NFKBIE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NFKBIE Gene

ENSEMBL:
Gene Tree for NFKBIE (if available)
TreeFam:
Gene Tree for NFKBIE (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NFKBIE: view image

Paralogs for NFKBIE Gene

(4) SIMAP similar genes for NFKBIE Gene using alignment to 5 proteins:

  • IKBE_HUMAN
  • H0Y4W4_HUMAN
  • H3BNC2_HUMAN
  • Q7LC14_HUMAN
  • Q96F31_HUMAN
genes like me logo Genes that share paralogs with NFKBIE: view

Variants for NFKBIE Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NFKBIE Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
723585 Benign: not provided 44,264,996(-) G/A SYNONYMOUS_VARIANT
rs2233434 - p.Val194Ala
rs28362857 - p.His95Gln

Additional dbSNP identifiers (rs#s) for NFKBIE Gene

Structural Variations from Database of Genomic Variants (DGV) for NFKBIE Gene

Variant ID Type Subtype PubMed ID
dgv10641n54 CNV loss 21841781
nsv462936 CNV loss 19166990
nsv524398 CNV loss 19592680
nsv5282 CNV insertion 18451855
nsv603003 CNV gain 21841781

Variation tolerance for NFKBIE Gene

Gene Damage Index Score: 5.20; 69.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NFKBIE Gene

Human Gene Mutation Database (HGMD)
NFKBIE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NFKBIE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NFKBIE Gene

Disorders for NFKBIE Gene

MalaCards: The human disease database

(2) MalaCards diseases for NFKBIE Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
primary mediastinal b-cell lymphoma
  • large cell lymphoma of the mediastinum
malignant spindle cell melanoma
  • desmoplastic melanoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NFKBIE

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NFKBIE: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NFKBIE Gene

Publications for NFKBIE Gene

  1. Genetic variation in the nuclear factor kappaB pathway in relation to susceptibility to rheumatoid arthritis. (PMID: 18434448) Dieguez-Gonzalez R … Gonzalez A (Annals of the rheumatic diseases 2009) 3 23 41 54
  2. IkappaB genetic polymorphisms and invasive pneumococcal disease. (PMID: 17463416) Chapman SJ … Hill AV (American journal of respiratory and critical care medicine 2007) 3 23 41 54
  3. I kappa B epsilon, a novel member of the I kappa B family, controls RelA and cRel NF-kappa B activity. (PMID: 9135156) Whiteside ST … Israël A (The EMBO journal 1997) 2 3 4 54
  4. Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. (PMID: 22446963) Okada Y … Yamamoto K (Nature genetics 2012) 3 41 54
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54

Products for NFKBIE Gene