Human Gene IKBKB (uc011lcr.2)
  Description: Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (IKBKB), transcript variant 7, mRNA.
RefSeq Summary (NM_001242778): The protein encoded by this gene phosphorylates the inhibitor in the inhibitor/NF-kappa-B complex, causing dissociation of the inhibitor and activation of NF-kappa-B. The encoded protein itself is found in a complex of proteins. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Sep 2011].
Transcript (Including UTRs)
   Position: hg19 chr8:42,128,820-42,190,171 Size: 61,352 Total Exon Count: 21 Strand: +
Coding Region
   Position: hg19 chr8:42,129,701-42,188,497 Size: 58,797 Coding Exon Count: 20 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:42,128,820-42,190,171)mRNA (may differ from genome)Protein (697 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMalacardsMGIOMIM
PubMedReactomeTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): IKBKB
CDC HuGE Published Literature: IKBKB
Positive Disease Associations: Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response
Related Studies:
  1. Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response
    Potter C et al. 2010, Association between anti-tumour necrosis factor treatment response and genetic variants within the TLR and NF{kappa}B signalling pathways., Annals of the rheumatic diseases 69(7) : 1315-20 2010. [PubMed 20448286]
    Several SNPs mapping to the TLR and NFkappaB signalling systems demonstrated association with anti-TNF response as a whole and, in particular, with response to etanercept. Validation of these findings in an independent cohort is now warranted.

-  MalaCards Disease Associations
  MalaCards Gene Search: IKBKB
Diseases sorted by gene-association score: immunodeficiency 15* (1368), cd3delta deficiency (7), neurodermatitis (6), hepatitis c virus (2), prostate cancer (2), pancreatic cancer (2), diabetes mellitus, noninsulin-dependent (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D001241 Aspirin
  • C041525 3,3',4,5'-tetrahydroxystilbene
  • D008070 Lipopolysaccharides
  • D013755 Tetradecanoylphorbol Acetate
  • C085911 2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one
  • C434003 3-(4-methylphenylsulfonyl)-2-propenenitrile
  • C502972 7-(2-(cyclopropylmethoxy)-6-hydroxyphenyl)-5-(3-piperidinyl)-1,4-dihydro-2H-pyrido(2,3-d)(1,3)oxazin-2-one
  • D001151 Arsenic
  • D001514 Bee Venoms
  • D002945 Cisplatin
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 32.21 RPKM in Spleen
Total median expression: 665.99 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -100.60268-0.375 Picture PostScript Text
3' UTR -562.251674-0.336 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00069 - Protein kinase domain
PF07714 - Protein tyrosine kinase
PF12179 - I-kappa-kinase-beta NEMO binding domain

SCOP Domains:
56112 - Protein kinase-like (PK-like)
54236 - Ubiquitin-like

ModBase Predicted Comparative 3D Structure on O14920-4
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  AK303528 - Homo sapiens cDNA FLJ58217 complete cds, highly similar to Inhibitor of nuclear factor kappa B kinase subunit beta (EC 2.7.11.10).
BC006231 - Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta, mRNA (cDNA clone IMAGE:3945886), complete cds.
AK303294 - Homo sapiens cDNA FLJ58658 complete cds, highly similar to Inhibitor of nuclear factor kappa B kinase subunit beta (EC 2.7.11.10).
AK316418 - Homo sapiens cDNA, FLJ79317 complete cds, highly similar to Inhibitor of nuclear factor kappa B kinase subunit beta (EC 2.7.11.10).
AK302723 - Homo sapiens cDNA FLJ57238 complete cds, highly similar to Inhibitor of nuclear factor kappa B kinase subunit beta (EC 2.7.11.10).
AK309052 - Homo sapiens cDNA, FLJ99093.
AK091297 - Homo sapiens cDNA FLJ33978 fis, clone DFNES2004354, highly similar to Inhibitor of nuclear factor kappa B kinase subunit beta (EC 2.7.11.10).
BC090865 - Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta, mRNA (cDNA clone IMAGE:6184761), with apparent retained intron.
AF080158 - Homo sapiens IkB kinase-b (IKK-beta) mRNA, complete cds.
AK298241 - Homo sapiens cDNA FLJ58600 complete cds, highly similar to Inhibitor of nuclear factor kappa B kinase subunit beta (EC 2.7.11.10).
AB209090 - Homo sapiens mRNA for inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta variant protein.
BC108694 - Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta, mRNA (cDNA clone MGC:131801 IMAGE:5784717), complete cds.
JD128726 - Sequence 109750 from Patent EP1572962.
AK290952 - Homo sapiens cDNA FLJ77419 complete cds.
BC144080 - Homo sapiens cDNA clone IMAGE:9052600.
BX648165 - Homo sapiens mRNA; cDNA DKFZp686J1040 (from clone DKFZp686J1040).
HM245392 - Homo sapiens TNPO1-IKBKB breakpoint junction mRNA sequence.
KJ891447 - Synthetic construct Homo sapiens clone ccsbBroadEn_00841 IKBKB gene, encodes complete protein.
AB527730 - Synthetic construct DNA, clone: pF1KB6249, Homo sapiens IKBKB gene for inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta, without stop codon, in Flexi system.
AF029684 - Homo sapiens IkB kinase-beta (IKK-beta) mRNA, partial cds.
AF031416 - Homo sapiens IkB kinase beta subunit mRNA, complete cds.
AK023193 - Homo sapiens cDNA FLJ13131 fis, clone NT2RP3002988, highly similar to Homo sapiens IkB kinase-b (IKK-beta) mRNA.
AK097828 - Homo sapiens cDNA FLJ40509 fis, clone TESTI2045964, highly similar to Homo sapiens IkB kinase-beta (IKK-beta) mRNA.
BC127663 - Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta, mRNA (cDNA clone IMAGE:40128020), partial cds.
BC141978 - Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta, mRNA (cDNA clone IMAGE:40128022), partial cds.
BC110917 - Homo sapiens cDNA clone IMAGE:5756066, **** WARNING: chimeric clone ****.
AK095687 - Homo sapiens cDNA FLJ38368 fis, clone FEBRA2001705.
AK093537 - Homo sapiens cDNA FLJ36218 fis, clone THYMU2000775.
AX748189 - Sequence 1714 from Patent EP1308459.
AK091090 - Homo sapiens cDNA FLJ33771 fis, clone BRHIP2000506.
AX746775 - Sequence 300 from Patent EP1308459.
JD422438 - Sequence 403462 from Patent EP1572962.
JD117392 - Sequence 98416 from Patent EP1572962.
JD210232 - Sequence 191256 from Patent EP1572962.
JD251551 - Sequence 232575 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04010 - MAPK signaling pathway
hsa04062 - Chemokine signaling pathway
hsa04210 - Apoptosis
hsa04620 - Toll-like receptor signaling pathway
hsa04621 - NOD-like receptor signaling pathway
hsa04622 - RIG-I-like receptor signaling pathway
hsa04623 - Cytosolic DNA-sensing pathway
hsa04660 - T cell receptor signaling pathway
hsa04662 - B cell receptor signaling pathway
hsa04722 - Neurotrophin signaling pathway
hsa04910 - Insulin signaling pathway
hsa04920 - Adipocytokine signaling pathway
hsa04930 - Type II diabetes mellitus
hsa05120 - Epithelial cell signaling in Helicobacter pylori infection
hsa05131 - Shigellosis
hsa05142 - Chagas disease
hsa05200 - Pathways in cancer
hsa05212 - Pancreatic cancer
hsa05215 - Prostate cancer
hsa05220 - Chronic myeloid leukemia
hsa05221 - Acute myeloid leukemia
hsa05222 - Small cell lung cancer

BioCarta from NCI Cancer Genome Anatomy Project
h_cd40Pathway - CD40L Signaling Pathway
h_keratinocytePathway - Keratinocyte Differentiation
h_aktPathway - AKT Signaling Pathway
h_tollPathway - Toll-Like Receptor Pathway
h_mapkPathway - MAPKinase Signaling Pathway
h_tidPathway - Chaperones modulate interferon Signaling Pathway
h_tnfr2Pathway - TNFR2 Signaling Pathway
h_il1rPathway - Signal transduction through IL1R
h_stressPathway - TNF/Stress Related Signaling
h_RacCycDPathway - Influence of Ras and Rho proteins on G1 to S Transition
h_41bbPathway - The 4-1BB-dependent immune response
h_nthiPathway - NFkB activation by Nontypeable Hemophilus influenzae
h_nfkbPathway - NF-kB Signaling Pathway
h_RELAPathway - Acetylation and Deacetylation of RelA in The Nucleus

Reactome (by CSHL, EBI, and GO)

Protein O14920 (Reactome details) participates in the following event(s):

R-HSA-5609665 IKBKA, IKBKB and IKBKG form IKK complex
R-HSA-168184 Activated TAK1 mediates phosphorylation of the IKK Complex
R-HSA-168910 RIP1 facilitates IKK complex phosphorylation
R-HSA-202500 Activation of IKK complex
R-HSA-451561 NEMO binds polyubiquitinated IRAK1
R-HSA-933530 Activation of IKK by MEKK1
R-HSA-933539 Recruitment of IKK complex
R-HSA-937029 IKBKG subunit of IKK complex binds polyubiquinated RIP1
R-HSA-937032 NEMO subunit of IKK complex binds to activated IRAK1
R-HSA-975119 NEMO subunit of IKK complex binds to activated IRAK1 upon stimulation of TLR7/8 or 9.
R-HSA-2730876 Phosphorylation of IKK-beta by TAK1
R-HSA-5357776 TNF:TNFR1:TRADD:TRAF2:K63polyUb-RIPK1:BIRC2,3:LUBAC recruits IKKA:IKBKB:IKBKG
R-HSA-5607742 K63polyUb-p-3T,1S-TAK1 phosphorylates IKK-beta
R-HSA-5626962 GNB2L1 binds IKKA:IKKB:NEMO
R-HSA-9014343 IKBKG subunit of IKK complex binds K63pUb- RIP1 within the TLR3 complex
R-HSA-193641 IKK-beta is recruited
R-HSA-1168641 TAK1 associated with the CBM complex phosphorylates IKKbeta
R-HSA-209087 IKBA is phosphorylated by Phospho IKKB kinase
R-HSA-8863895 IKKB phosphorylates SNAP23
R-HSA-193703 IKKbeta is activated
R-HSA-168140 Phospho-IKK Complex phosphorylates IkB within the IkB:NFkB Complex
R-HSA-5357831 CYLD is phosphorylated by IKK
R-HSA-5684267 IKBKB phosphorylates NFkB p105 within the NFkB p105:TPL2:ABIN2 complex
R-HSA-5684275 IKBKB phosphorylates TPL2 (MAP3K8) at Ser400
R-HSA-202541 p-S177,S181-IKKB:IKKA:pUb-NEMO phosphorylates IkB-alpha:NF-kB
R-HSA-1168638 Activated IKK phosphorylates I-kappaB
R-HSA-193705 IKKbeta phosphorylates IkB causing NF-kB to dissociate
R-HSA-5603027 IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR)
R-HSA-445989 TAK1 activates NFkB by phosphorylation and activation of IKKs complex
R-HSA-168638 NOD1/2 Signaling Pathway
R-HSA-9020702 Interleukin-1 signaling
R-HSA-1810476 RIP-mediated NFkB activation via ZBP1
R-HSA-202424 Downstream TCR signaling
R-HSA-933542 TRAF6 mediated NF-kB activation
R-HSA-933543 NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
R-HSA-937041 IKK complex recruitment mediated by RIP1
R-HSA-937039 IRAK1 recruits IKK complex
R-HSA-975144 IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation
R-HSA-1169091 Activation of NF-kappaB in B cells
R-HSA-2871837 FCERI mediated NF-kB activation
R-HSA-5357956 TNFR1-induced NFkappaB signaling pathway
R-HSA-5607764 CLEC7A (Dectin-1) signaling
R-HSA-5357905 Regulation of TNFR1 signaling
R-HSA-168927 TICAM1, RIP1-mediated IKK complex recruitment
R-HSA-209543 p75NTR recruits signalling complexes
R-HSA-5602358 Diseases associated with the TLR signaling cascade
R-HSA-166058 MyD88:Mal cascade initiated on plasma membrane
R-HSA-168164 Toll Like Receptor 3 (TLR3) Cascade
R-HSA-937061 TRIF(TICAM1)-mediated TLR4 signaling
R-HSA-975138 TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation
R-HSA-975871 MyD88 cascade initiated on plasma membrane
R-HSA-168643 Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
R-HSA-446652 Interleukin-1 family signaling
R-HSA-1606322 ZBP1(DAI) mediated induction of type I IFNs
R-HSA-202403 TCR signaling
R-HSA-168928 DDX58/IFIH1-mediated induction of interferon-alpha/beta
R-HSA-1168372 Downstream signaling events of B Cell Receptor (BCR)
R-HSA-2454202 Fc epsilon receptor (FCERI) signaling
R-HSA-75893 TNF signaling
R-HSA-5621481 C-type lectin receptors (CLRs)
R-HSA-1236974 ER-Phagosome pathway
R-HSA-209560 NF-kB is activated and signals survival
R-HSA-193639 p75NTR signals via NF-kB
R-HSA-5260271 Diseases of Immune System
R-HSA-166016 Toll Like Receptor 4 (TLR4) Cascade
R-HSA-168179 Toll Like Receptor TLR1:TLR2 Cascade
R-HSA-168188 Toll Like Receptor TLR6:TLR2 Cascade
R-HSA-168898 Toll-Like Receptors Cascades
R-HSA-166166 MyD88-independent TLR4 cascade
R-HSA-975155 MyD88 dependent cascade initiated on endosome
R-HSA-168142 Toll Like Receptor 10 (TLR10) Cascade
R-HSA-168176 Toll Like Receptor 5 (TLR5) Cascade
R-HSA-5603029 IkBA variant leads to EDA-ID
R-HSA-5684264 MAP3K8 (TPL2)-dependent MAPK1/3 activation
R-HSA-168249 Innate Immune System
R-HSA-449147 Signaling by Interleukins
R-HSA-1834949 Cytosolic sensors of pathogen-associated DNA
R-HSA-1280218 Adaptive Immune System
R-HSA-983705 Signaling by the B Cell Receptor (BCR)
R-HSA-73887 Death Receptor Signalling
R-HSA-1236975 Antigen processing-Cross presentation
R-HSA-193704 p75 NTR receptor-mediated signalling
R-HSA-1643685 Disease
R-HSA-181438 Toll Like Receptor 2 (TLR2) Cascade
R-HSA-168138 Toll Like Receptor 9 (TLR9) Cascade
R-HSA-168181 Toll Like Receptor 7/8 (TLR7/8) Cascade
R-HSA-450294 MAP kinase activation
R-HSA-168256 Immune System
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-162582 Signal Transduction
R-HSA-983169 Class I MHC mediated antigen processing & presentation
R-HSA-448424 Interleukin-17 signaling

-  Other Names for This Gene
  Alternate Gene Symbols: IKKB, NM_001242778, NP_001229707, O14920-4
UCSC ID: uc011lcr.2
RefSeq Accession: NM_001242778
Protein: O14920-4, splice isoform of O14920 CCDS: CCDS56535.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001242778.1
exon count: 21CDS single in 3' UTR: no RNA size: 4036
ORF size: 2094CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4253.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.