Human Gene IKBKB (uc022auj.1)
  Description: Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (IKBKB), transcript variant 2, mRNA.
RefSeq Summary (NM_001190720): 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 chr8:42,183,128-42,190,171 Size: 7,044 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr8:42,183,527-42,188,497 Size: 4,971 Coding Exon Count: 3 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:42,183,128-42,190,171)mRNA (may differ from genome)Protein (81 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsH-INV
HGNCLynxMalacardsMGIPubMedUniProtKB
Wikipedia

-  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 -128.50399-0.322 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
  InterPro Domains: Graphical view of domain structure
IPR022007 - IKKbetaNEMObind

Pfam Domains:
PF12179 - I-kappa-kinase-beta NEMO binding domain

ModBase Predicted Comparative 3D Structure on A1L159
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    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008384 IkappaB kinase activity

Biological Process:
GO:0007252 I-kappaB phosphorylation

Cellular Component:
GO:0005622 intracellular


-  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).
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).
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.
AK290952 - Homo sapiens cDNA FLJ77419 complete cds.
BC144080 - Homo sapiens cDNA clone IMAGE:9052600.
BX648165 - Homo sapiens mRNA; cDNA DKFZp686J1040 (from clone DKFZp686J1040).
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

-  Other Names for This Gene
  Alternate Gene Symbols: A1L159, A1L159_HUMAN, BC110917
UCSC ID: uc022auj.1
RefSeq Accession: NM_001190720
Protein: A1L159

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: BC110917.1
exon count: 3CDS single in 3' UTR: no RNA size: 2872
ORF size: 246CDS single in intron: no Alignment % ID: 99.94
txCdsPredict score: 649.00frame shift in genome: no % Coverage: 54.74
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: 360# 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.