Gene Gene information from NCBI Gene database.
Entrez ID 4794
Gene name NFKB inhibitor epsilon
Gene symbol NFKBIE
Synonyms (NCBI Gene)
IKBE
Chromosome 6
Chromosome location 6p21.1
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, w
miRNA miRNA information provided by mirtarbase database.
71
miRTarBase ID miRNA Experiments Reference
MIRT029491 hsa-miR-26b-5p Microarray 19088304
MIRT036677 hsa-miR-935 CLASH 23622248
MIRT1183556 hsa-miR-1182 CLIP-seq
MIRT1183557 hsa-miR-1287 CLIP-seq
MIRT1183558 hsa-miR-3135b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0001650 Component Fibrillar center IDA
GO:0005515 Function Protein binding IPI 14743216, 16769727, 21988832, 28514442, 33961781, 35271311, 37643469
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 9135156
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604548 7799 ENSG00000146232
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00221
Protein name NF-kappa-B inhibitor epsilon (NF-kappa-BIE) (I-kappa-B-epsilon) (IkB-E) (IkB-epsilon) (IkappaBepsilon)
Protein function Sequesters NF-kappa-B transcription factor complexes in the cytoplasm, thereby inhibiting their activity (PubMed:9315679). Sequestered complexes include NFKB1-RELA (p50-p65) and NFKB1-REL (p50-c-Rel) complexes (PubMed:9135156, PubMed:9315679). L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00023 Ank 403 434 Ankyrin repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Highly expressed in spleen, testis and lung, followed by kidney, pancreas, heart, placenta and brain. Also expressed in granulocytes and macrophages.
Sequence
MNQRRSESRPGNHRLQAYAEPGKGDSGGAGPLSGSARRGRGGGGAIRVRRPCWSGGAGRG
GGPAWAVRLPTVTAGWTWPALRTLSSLRAGPSEPHSPGRRPPRAGRPLCQADPQPGKAAR
RSLEPDPAQTGPRPARAAGMSEARKGPDEAEESQYDSGIESLRSLRSLPESTSAPASGPS
DGSPQPCTHPPGPVKEPQEKEDADGERADSTYGSSSLTYTLSLLGGPEAEDPAPRLPLPH
VGALSPQQLEALTYISEDGDTLVHLAVIHEAPAVLLCCLALLPQEVLDIQNNLYQTALHL
AVHLDQPGAVRALVLKGASRALQDRHGDTALHVACQRQHLACARCLLEGRPEPGRGTSHS
LDLQLQNWQGLACLHIATLQKNQPLMELLLRNGADIDVQEGTSGKTALHLAVETQERGLV
QFLLQAGAQVDARM
LNGCTPLHLAAGRGLMGISSTLCKAGADSLLRNVEDETPQDLTEES
LVLLPFDDLKISGKLLLCTD
Sequence length 500
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Th1 and Th2 cell differentiation
Th17 cell differentiation
T cell receptor signaling pathway
B cell receptor signaling pathway
Neurotrophin signaling pathway
Adipocytokine signaling pathway
Epstein-Barr virus infection
PD-L1 expression and PD-1 checkpoint pathway in cancer
  Activation of NF-kappaB in B cells
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARTHRITIS, RHEUMATOID CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MELANOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS Disgenet, GWAS catalog
Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Arthritis Rheumatoid Associate 23028356, 23577190, 26587663, 26686423
★☆☆☆☆
Found in Text Mining only
Graves Disease Associate 35720300
★☆☆☆☆
Found in Text Mining only
Hodgkin Disease Associate 27670424, 32079702
★☆☆☆☆
Found in Text Mining only
Inflammation Associate 28542447
★☆☆☆☆
Found in Text Mining only
Leukemia Lymphocytic Chronic B Cell Associate 22675518, 25987724, 27670424, 36566271
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus Systemic Associate 26686423
★☆☆☆☆
Found in Text Mining only
Lymphoma Associate 27670424
★☆☆☆☆
Found in Text Mining only
Lymphoma B Cell Associate 25987724, 27670424
★☆☆☆☆
Found in Text Mining only
Lymphoma Large B Cell Diffuse Associate 27670424, 36215154
★☆☆☆☆
Found in Text Mining only
Lymphoma Mantle Cell Associate 32961552
★☆☆☆☆
Found in Text Mining only