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NFKBIE Gene

protein-coding   GIFtS: 64
GCID: GC06M044226

Nuclear Factor Of Kappa Light Polypeptide Gene Enhancer...

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Nuclear Factor Of Kappa Light Polypeptide Gene Enhancer In B-Cells
Inhibitor, Epsilon1 2
     ikappaBepsilon2
I-kappa-B-epsilon2 3     NF-Kappa-B Inhibitor Epsilon2
IKBE2 3     IkB-E3
NF-kappa-BIE2 3     IkB-epsilon3
ikB-E2     IkappaBepsilon3
ikB-epsilon2     

External Ids:    HGNC: 77991   Entrez Gene: 47942   Ensembl: ENSG000001462327   OMIM: 6045485   UniProtKB: O002213   

Export aliases for NFKBIE gene to outside databases

Previous GC identifers: GC06M044224 GC06M044273 GC06M044334 GC06M043947


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon) is a protein-coding gene. An important paralog of this gene is NFKBID.

UniProtKB/Swiss-Prot: IKBE_HUMAN, O00221
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

Gene Wiki entry for NFKBIE Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NC_018917.2  NT_007592.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the NFKBIE gene promoter:
         ISGF-3   Elk-1   GATA-3   MyoD   E47   Egr-4   Egr-2   RORalpha1   IRF-2   c-Myb   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for NFKBIE

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NFKBIE


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.1   Ensembl cytogenetic band:  6p21.1   HGNC cytogenetic band: 6p21.1

NFKBIE Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NFKBIE gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M044226:  view genomic region     (about GC identifiers)

Start:
44,225,903 bp from pter      End:
44,233,525 bp from pter
Size:
7,623 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: IKBE_HUMAN, O00221 (See protein sequence)
Recommended Name: NF-kappa-B inhibitor epsilon  
Size: 500 amino acids; 52864 Da
Subunit: Interacts with RELA, REL, NFKB1 nuclear factor NF-kappa-B p50 subunit and NFKB2 nuclear factor NF-kappa-B
p52 subunit
Sequence caution: Sequence=AAC51216.1; Type=Frameshift; Positions=339, 351;
Secondary accessions: Q5T9V9

Explore the universe of human proteins at neXtProt for NFKBIE: NX_O00221

Explore proteomics data for NFKBIE at MOPED

Post-translational modifications: 

  • Serine phosphorylated; followed by proteasome-dependent degradation1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NFKBIE Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004547.2  
    ENSEMBL proteins: 
     ENSP00000275015   ENSP00000394658   ENSP00000454778  
    Reactome Protein details: O00221

    NFKBIE Human Recombinant Protein Products:

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    Novus Biologicals NFKBIE Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online proteins for NFKBIE (5 products) 

     
    antibodies-online peptides for NFKBIE

    NFKBIE Antibody Products:

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    NFKBIE Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ANKRD: Ankyrin repeat domain containing

    2 InterPro protein domains:
     IPR002110 Ankyrin_rpt
     IPR020683 Ankyrin_rpt-contain_dom

    Graphical View of Domain Structure for InterPro Entry O00221

    ProtoNet protein and cluster: O00221

    UniProtKB/Swiss-Prot: IKBE_HUMAN, O00221
    Similarity: Belongs to the NF-kappa-B inhibitor family
    Similarity: Contains 6 ANK repeats


    Find genes that share domains with NFKBIE           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IKBE_HUMAN, O00221
    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

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI14743216
         
    Find genes that share ontologies with NFKBIE           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for NFKBIE:
     Decreased nuclei size in G2M 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Nfkbie):
     cellular  hematopoietic system  immune system  mortality/aging  skeleton 

    Find genes that share phenotypes with NFKBIE           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for NFKBIE

    miRNA
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    miRTarBase miRNAs that target NFKBIE:
    hsa-mir-935 (MIRT036677), hsa-mir-26b-5p (MIRT029491)

    Block miRNA regulation of human, mouse, rat NFKBIE using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate NFKBIE:
    hsa-miR-2355-5p hsa-miR-1184 hsa-miR-3611 hsa-miR-2115 hsa-miR-1264 hsa-miR-3692
    SwitchGear 3'UTR luciferase reporter plasmidNFKBIE 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    IKBE_HUMAN, O00221: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    golgi apparatus2
    nucleus2
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS9135156
    GO:0005794Golgi apparatus IEA--
    GO:0005829cytosol TAS--
    GO:0048471perinuclear region of cytoplasm IEA--

    Find genes that share ontologies with NFKBIE           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NFKBIE About   (see all 57)  
    See pathways by source

    SuperPathContained pathways About
    1NOD-like Receptor Signaling Pathways
    Toll-Like receptor Signaling Pathways0.58
    Mucin expression in CF via TLRs, EGFR signaling pathways0.42
    NOD-like Receptor Signaling Pathways0.58
    Immune response IL 1 signaling pathway0.42
    Inflammasome Activation Pathways0.51
    Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways0.31
    IL-1 Family Signaling Pathways0.44
    2Development IGF 1 receptor signaling
    Development IGF RI signaling0.49
    Development IGF 1 receptor signaling0.48
    Signal transduction AKT signaling0.49
    Immune response IL 4 signaling pathway0.39
    3TWEAK Pathway
    TWEAK Pathway0.87
    Apoptosis and survival TNFR1 signaling pathway0.52
    DR3 Signaling0.87
    GITR Pathway0.46
    TNFR1 Pathway0.56
    Apoptosis through Death Receptors0.42
    TNF Signaling0.55
    TRAIL Pathway0.40
    4Toll Comparative Pathway
    Toll Comparative Pathway0.61
    IL-1 Pathway0.39
    TLR-TRIF Pathway0.61
    iNOS Signaling0.34
    Immune response MIF in innate immunity response0.46
    5RANK Signaling in Osteoclasts
    BAFF in B-Cell Signaling0.92
    Apoptosis and survival APRIL and BAFF signaling0.39
    APRIL Pathway0.92
    RANK Pathway0.38
    RANK Signaling in Osteoclasts0.45


    Find genes that share SuperPaths with NFKBIE           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected R&D Systems Pathways for NFKBIE (see all 6)
        NOD-like Receptor Signaling Pathways
    Inflammasome Activation Pathways
    IL-1 Family Signaling Pathways
    IL-17 Family Signaling Pathways
    Toll-Like receptor Signaling Pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for NFKBIE (see all 56)
        TWEAK Pathway
    Toll-Like Receptors Pathway
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C
    G12-G13 in Cellular Signaling

    1 Cell Signaling Technology (CST) Pathway for NFKBIE
        NF-kappaB Signaling

    Selected GeneGo (Thomson Reuters) Pathways for NFKBIE (see all 45)
        Development A2A receptor signaling
    Immune response Bacterial infections in normal airways
    Immune response MIF in innate immunity response
    Development EGFR signaling pathway
    Signal transduction AKT signaling

    2 BioSystems Pathways for NFKBIE
        Apoptosis
    TNF-alpha/NF-kB Signaling Pathway

    1 Reactome Pathway for NFKBIE
        Activation of NF-kappaB in B cells


    5 Kegg Pathways  (Kegg details for NFKBIE):
        T cell receptor signaling pathway
    B cell receptor signaling pathway
    Neurotrophin signaling pathway
    Adipocytokine signaling pathway
    Epstein-Barr virus infection

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NFKBIE: 
              NFKB Signaling Pathway in human mouse rat
              Cancer Drug Resistance in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NFKBIE

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NFKBIE (O002211, 2, 3 ENSP000002750154) via UniProtKB, MINT, STRING, and/or I2D (see all 76)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP6R2O751701, 2, 3, ENSP000003790934EBI-355098,EBI-359739 MINT-8214278 I2D: score=3 STRING: ENSP00000379093
    NFKB1P198382, 3, ENSP000002265744MINT-47886 MINT-48536 MINT-47905 MINT-48647 I2D: score=6 STRING: ENSP00000226574
    NFKB2Q006532, 3, ENSP000001894444MINT-47947 MINT-48708 I2D: score=7 STRING: ENSP00000189444
    JUPP149232, 3, ENSP000003111134MINT-67718 I2D: score=4 STRING: ENSP00000311113
    CHUKO151112, 3, ENSP000003594244MINT-47878 I2D: score=2 STRING: ENSP00000359424
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    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042942D-serine transport IEA--
    GO:0042994cytoplasmic sequestering of transcription factor TAS9135156

    Find genes that share ontologies with NFKBIE           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NFKBIE (IKBE)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NFKBIE gene: 
    NM_004556.2  

    Unigene Cluster for NFKBIE:

    Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon
    Hs.458276  [show with all ESTs]
    Unigene Representative Sequence: NM_004556
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000275015(uc003oxe.1) ENST00000443607 ENST00000477930
    miRNA
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    hsa-miR-2355-5p hsa-miR-1184 hsa-miR-3611 hsa-miR-2115 hsa-miR-1264 hsa-miR-3692
    SwitchGear 3'UTR luciferase reporter plasmidNFKBIE 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat NFKBIE
      QuantiFast Probe-based Assays in human, mouse, rat NFKBIE

    Additional mRNA sequence: 

    AK301360.1 BC011676.2 BC063609.1 U91616.1 

    7 DOTS entries:

    DT.414540  DT.97861805  DT.100775152  DT.100775155  DT.100775245  DT.100775157  DT.91738521 

    Selected AceView cDNA sequences (see all 521):

    AI247313 BM798639 BQ416606 Z42389 BU733561 BQ723739 BE514895 CN483394 
    AA731845 BU538684 BM451910 N67775 BU538801 BQ684732 BC016839 BM759339 
    AA593617 BM684630 AI419032 BM709117 BQ898825 BX367255 AA298497 BQ233834 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for NFKBIE    About this scheme

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


    ECgene alternative splicing isoforms for NFKBIE

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NFKBIE expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACACTAAAAT
    NFKBIE Expression
    About this image


    NFKBIE expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Inner Cell Mass (Early Embryonic Tissues)
             Blimp1- mVenus and stella-ECFP genetically modified stem cells
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    NFKBIE Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NFKBIE Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.458276

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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NFKBIE: 
              NFKB Signaling Pathway in human mouse rat
              Cancer Drug Resistance in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat NFKBIE
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NFKBIE

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for NFKBIE gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nfkbie1 , 5 nuclear factor of kappa light polypeptide gene enhancer more1, 5 82.41(n)1
    83.06(a)1
      17 (22.58 cM)5
    180371  NM_008690.31  NP_032716.21 
     455557165 
    chicken
    (Gallus gallus)
    Aves NFKBIE1 nuclear factor of kappa light polypeptide gene enhancer more 66.37(n)
    59.94(a)
      421438  XM_419490.4  XP_419490.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    17(a)
    many ↔ many
    GL343521.1(270589-280596)
    African clawed frog
    (Xenopus laevis)
    Amphibia AF549907.12   -- 75.5(n)    AF549907.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nfkbie1 nuclear factor of kappa light polypeptide gene enhancer more 53.35(n)
    45.12(a)
      790944  NM_001080089.1  NP_001073558.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta cact6
    cactus
    20(a)
    1 → many
    2L(16313029-16326101)


    ENSEMBL Gene Tree for NFKBIE (if available)
    TreeFam Gene Tree for NFKBIE (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NFKBIE gene
    NFKBID2  NFKBIB2  NFKBIA2  BCL32  NFKBIZ2  
    4 SIMAP similar genes for NFKBIE using alignment to 5 protein entries:     IKBE_HUMAN (see all proteins):
    IkBa    NFKBIA    PPP1R12A    BCL3

    Find genes that share paralogs with NFKBIE           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NFKBIE (see all 204)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs100810011,2
    C,F,H--44227330(+) GGGGGG/ACTGCT 1 -- int17Minor allele frequency- A:0.01NS EA WA 616
    rs1146871881,2
    F--44227345(+) ACTCGC/TAGAAC 1 -- int11Minor allele frequency- T:0.03WA 118
    rs1920773871,2
    --44227419(+) TTCACC/GTCTCA 1 -- int10--------
    rs734356551,2
    C--44227709(+) CCCTTG/TCAGCT 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1996292241,2
    --44227744(+) GGGTGC/TGCAAG 1 -- int10--------
    rs2019326121,2
    --44227747(+) TGTGCA/CAGGCC 1 -- int10--------
    rs122114481,2
    C,F--44227751(+) CAAGGC/ACCTGG 1 -- int111Minor allele frequency- A:0.09NS NA EU 2183
    rs115535891,2
    C,F--44227810(-) GTGGAG/AGATGA 2 /E syn1 ese32Minor allele frequency- A:0.01NA EU 5861
    rs1159689201,2
    --44227868(+) TGCCCA/GTGAGA 2 T M mis11Minor allele frequency- G:0.01EA 184
    rs1145726071,2
    F--44227870(+) CCCATG/AAGACC 2 /L syn11Minor allele frequency- A:0.01EA 210

    HapMap Linkage Disequilibrium report for NFKBIE (44225903 - 44233525 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for NFKBIE:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv5282CNV Insertion18451855
    dgv6844n71CNV Loss21882294
    nsv462936CNV Loss19166990
    nsv885857CNV Loss21882294
    nsv524398CNV Loss19592680
    nsv885851CNV Loss21882294
    dgv6843n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): NFKBIE
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NFKBIE
    DNA2.0 Custom Variant and Variant Library Synthesis for NFKBIE

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604548    OMIM disorders: --


    Find genes that share disorders with NFKBIE           About GenesLikeMe

    Genetic Association Database (GAD): NFKBIE
    Human Genome Epidemiology (HuGE) Navigator: NFKBIE (24 documents)

    Export disorders for NFKBIE gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NFKBIE gene, integrated from 10 sources (see all 47):
    (articles sorted by number of sources associating them with NFKBIE)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. IkappaB epsilon, a novel member of the IkappaB family, controls RelA and cRel NF-kappaB activity. (PubMed id 9135156)1, 2, 3 Whiteside S.T.... Israel A. (EMBO J. 1997)
    2. IkappaB genetic polymorphisms and invasive pneumococcal disease. (PubMed id 17463416)1, 4, 9 Chapman S.J....Hill A.V. (Am. J. Respir. Crit. Care Med. 2007)
    3. Genetic variation in the nuclear factor kappaB pathway in relation to susceptibility to rheumatoid arthritis. (PubMed id 18434448)1, 4, 9 Dieguez-Gonzalez R....Gonzalez A. (Ann. Rheum. Dis. 2009)
    4. Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. (PubMed id 22446963)1, 4 Okada Y....Yamamoto K. (Nat. Genet. 2012)
    5. Maternal and fetal genetic associations of PTGER3 and PON1 with preterm birth. (PubMed id 20140262)1, 4 Ryckman K.K....Jacobsson B. (PLoS ONE 2010)
    6. Association between anti-tumour necrosis factor treatment response and genetic variants within the TLR and NF{kappa}B signalling pathways. (PubMed id 20448286)1, 4 Potter C....Isaacs J.D. (Ann. Rheum. Dis. 2010)
    7. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 2010)
    8. Polymorphisms in innate immunity genes and patients response to dendritic cell-based HIV immuno-treatment. (PubMed id 20056178)1, 4 Segat L....Crovella S. (Vaccine 2010)
    9. Polymorphisms in oxidative stress and inflammation pathway genes, low-dose ionizing radiation, and the risk of breast cancer among US radiologic technologists. (PubMed id 20711808)1, 4 Schonfeld S.J....Sigurdson A.J. (amp 2010)
    10. Common single nucleotide polymorphisms in immunoregulatory genes and multiple myeloma risk among women in Connecticut. (PubMed id 20568250)1, 4 Lee K.M....Lan Q. (Am. J. Hematol. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4794 HGNC: 7799 AceView: NFKBIEandSLC35B2 Ensembl:ENSG00000146232 euGenes: HUgn4794
    ECgene: NFKBIE Kegg: 4794 H-InvDB: NFKBIE

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NFKBIE Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NFKBIE Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NFKBIE gene:
    Search GeneIP for patents involving NFKBIE

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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