NFKBIE (NFKB inhibitor epsilon)

2003-06-01  

Identity

HGNC
LOCATION
6p21.1
LOCUSID
ALIAS
IKBE
FUSION GENES

Other Information

Locus ID:

NCBI: 4794
MIM: 604548
HGNC: 7799
Ensembl: ENSG00000146232

Variants:

dbSNP: 4794
ClinVar: 4794
TCGA: ENSG00000146232
COSMIC: NFKBIE

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000146232ENST00000275015O00221
ENSG00000146232ENST00000275015A0A024RD24
ENSG00000146232ENST00000443607H0Y4W4
ENSG00000146232ENST00000477930H3BNC2
ENSG00000146232ENST00000619360Q7LC14

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
T cell receptor signaling pathwayKEGGko04660
B cell receptor signaling pathwayKEGGko04662
Adipocytokine signaling pathwayKEGGko04920
T cell receptor signaling pathwayKEGGhsa04660
B cell receptor signaling pathwayKEGGhsa04662
Adipocytokine signaling pathwayKEGGhsa04920
Neurotrophin signaling pathwayKEGGko04722
Neurotrophin signaling pathwayKEGGhsa04722
Epstein-Barr virus infectionKEGGhsa05169
Epstein-Barr virus infectionKEGGko05169
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Signaling by the B Cell Receptor (BCR)REACTOMER-HSA-983705
Downstream signaling events of B Cell Receptor (BCR)REACTOMER-HSA-1168372
Activation of NF-kappaB in B cellsREACTOMER-HSA-1169091
Th1 and Th2 cell differentiationKEGGko04658
Th1 and Th2 cell differentiationKEGGhsa04658
Th17 cell differentiationKEGGko04659
Th17 cell differentiationKEGGhsa04659

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
263433862015Exome sequencing of desmoplastic melanoma identifies recurrent NFKBIE promoter mutations and diverse activating mutations in the MAPK pathway.66
167697272006Protein phosphatase 6 subunit with conserved Sit4-associated protein domain targets IkappaBepsilon.45
259877242015Functional loss of IκBε leads to NF-κB deregulation in aggressive chronic lymphocytic leukemia.34
186766802008Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.32
188187482008Preterm birth in Caucasians is associated with coagulation and inflammation pathway gene variants.31
195275142009Racial disparity in pathophysiologic pathways of preterm birth based on genetic variants.31
145957532003Inactivating I kappa B epsilon mutations in Hodgkin/Reed-Sternberg cells.30
174634162007IkappaB genetic polymorphisms and invasive pneumococcal disease.26
174634162007IkappaB genetic polymorphisms and invasive pneumococcal disease.26

Citation

Dessen P

NFKBIE (NFKB inhibitor epsilon)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/41532/nfkbie-(nfkb-inhibitor-epsilon)