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Aliases for NFKBIE Gene

Aliases for NFKBIE Gene

  • NFKB Inhibitor Epsilon 2 3
  • Nuclear Factor Of Kappa Light Polypeptide Gene Enhancer In B-Cells Inhibitor, Epsilon 2 3 5
  • 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
  • NF-Kappa-B Inhibitor Epsilon 2

External Ids for NFKBIE Gene

Previous GeneCards Identifiers for NFKBIE Gene

  • GC06M044224
  • GC06M044273
  • GC06M044334
  • 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 Ebola Hemorrhagic Fever and Pleural Empyema. Among its related pathways are Development VEGF signaling via VEGFR2 - generic cascades and TWEAK Pathway. An important paralog of this gene is BCL3.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NFKBIE Gene

Genomics for NFKBIE Gene

Regulatory Elements for NFKBIE Gene

Enhancers for NFKBIE Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NFKBIE on UCSC Golden Path with GeneCards custom track

Promoters for NFKBIE Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NFKBIE on UCSC Golden Path with GeneCards custom track

Genomic Location for NFKBIE Gene

Chromosome:
6
Start:
44,258,166 bp from pter
End:
44,265,788 bp from pter
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; Positions=339, 351; Evidence={ECO:0000305};

neXtProt entry for NFKBIE Gene

Proteomics data for NFKBIE Gene at MOPED

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

  • Cell Signaling Technology (CST) Antibodies for NFKBIE (IkB-epsilon)
  • Cloud-Clone Corp. Antibodies for NFKBIE

No data available for DME Specific Peptides for NFKBIE Gene

Domains & Families for NFKBIE Gene

Gene Families for NFKBIE Gene

Protein Domains for NFKBIE Gene

Graphical View of Domain Structure for InterPro Entry

O00221

UniProtKB/Swiss-Prot:

IKBE_HUMAN :
  • Belongs to the NF-kappa-B inhibitor family.
  • Contains 6 ANK repeats.
Family:
  • Belongs to the NF-kappa-B inhibitor family.
Similarity:
  • Contains 6 ANK repeats.
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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for NFKBIE Gene COMPARTMENTS Subcellular localization image for NFKBIE gene
Compartment Confidence
cytosol 5
nucleus 4
golgi apparatus 2
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for NFKBIE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with NFKBIE: view

Pathways & Interactions for NFKBIE Gene

genes like me logo Genes that share pathways with NFKBIE: view

SIGNOR curated interactions for NFKBIE Gene

Inactivates:

Gene Ontology (GO) - Biological Process for NFKBIE Gene

None

Drugs & Compounds for NFKBIE Gene

No Compound Related Data Available

Transcripts for NFKBIE Gene

Unigene Clusters for NFKBIE Gene

Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon:
Representative Sequences:

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
ECgene alternative splicing isoforms for
NFKBIE

Expression for NFKBIE Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for NFKBIE Gene



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.
genes like me logo Genes that share expression patterns with NFKBIE: view

Protein tissue co-expression partners for NFKBIE Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia NFKBIE 35
  • 86.43 (n)
  • 87.53 (a)
NFKBIE 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NFKBIE 35
  • 84.72 (n)
  • 83 (a)
NFKBIE 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nfkbie 35
  • 82.41 (n)
  • 83.06 (a)
Nfkbie 16
Nfkbie 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NFKBIE 35
  • 99.33 (n)
  • 99.2 (a)
NFKBIE 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nfkbie 35
  • 82.27 (n)
  • 81.44 (a)
oppossum
(Monodelphis domestica)
Mammalia NFKBIE 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NFKBIE 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves NFKBIE 35
  • 66.37 (n)
  • 59.94 (a)
NFKBIE 36
  • 52 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 17 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100145466 35
  • 60.08 (n)
  • 56.53 (a)
Str.672 35
zebrafish
(Danio rerio)
Actinopterygii nfkbie 35
  • 53.35 (n)
  • 45.12 (a)
nfkbie 36
  • 42 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta cact 36
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 20 (a)
OneToMany
Species with no ortholog for NFKBIE:
  • 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)

Paralogs for NFKBIE Gene

Paralogs for NFKBIE Gene

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

genes like me logo Genes that share paralogs with NFKBIE: view

Variants for NFKBIE Gene

Sequence variations from dbSNP and Humsavar for NFKBIE Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs28362857 - 44,265,479(-) CCCCA(C/G)AGCCC reference, missense
rs2233434 - 44,265,183(-) ACCCG(C/T)CAAGG reference, missense
rs1051839 -- 44,265,067(-) ACCCG(C/G)CCCCA reference, missense
rs5875869 -- 44,261,963(+) ATAAA(-/AGGTT)GGCCA intron-variant
rs1409112 -- 44,263,378(+) AGTCT(C/T)GGGGT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv885851 CNV Loss 21882294
nsv5282 CNV Insertion 18451855
nsv462936 CNV Loss 19166990
dgv6843n71 CNV Loss 21882294
nsv524398 CNV Loss 19592680
dgv6844n71 CNV Loss 21882294
nsv885857 CNV Loss 21882294

Variation tolerance for NFKBIE Gene

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

Relevant External Links for NFKBIE Gene

Human Gene Mutation Database (HGMD)
NFKBIE

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

Disorders for NFKBIE Gene

MalaCards: The human disease database

(3) MalaCards diseases for NFKBIE Gene - From: DISEASES

Disorder Aliases PubMed IDs
ebola hemorrhagic fever
  • ebola virus disease
pleural empyema
  • abscess of pleural cavity
malignant spindle cell melanoma
  • desmoplastic melanoma
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NFKBIE

Genetic Association Database (GAD)
NFKBIE
Human Genome Epidemiology (HuGE) Navigator
NFKBIE
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NFKBIE
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. IkappaB epsilon, a novel member of the IkappaB family, controls RelA and cRel NF-kappaB activity. (PMID: 9135156) Whiteside S.T. … Israel A. (EMBO J. 1997) 2 3 4 67
  2. Genetic variation in the nuclear factor kappaB pathway in relation to susceptibility to rheumatoid arthritis. (PMID: 18434448) Dieguez-Gonzalez R. … Gonzalez A. (Ann. Rheum. Dis. 2009) 3 23
  3. IkappaB genetic polymorphisms and invasive pneumococcal disease. (PMID: 17463416) Chapman S.J. … Hill A.V. (Am. J. Respir. Crit. Care Med. 2007) 3 23
  4. Inactivating I kappa B epsilon mutations in Hodgkin/Reed-Sternberg cells. (PMID: 14595753) Emmerich F. … DAPrken B. (J. Pathol. 2003) 3 23
  5. Functional loss of II_BI/ leads to NF-I_B deregulation in aggressive chronic lymphocytic leukemia. (PMID: 25987724) Mansouri L. … Rosenquist R. (J. Exp. Med. 2015) 3

Products for NFKBIE Gene

Sources for NFKBIE Gene

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