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] See more...

Aliases for IKBKB Gene

Aliases for IKBKB Gene

  • Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Beta 2 3 5
  • IKK-Beta 2 3 4
  • NFKBIKB 2 3 4
  • IKK2 2 3 4
  • IKKB 2 3 4
  • Inhibitor Of Kappa Light Polypeptide Gene Enhancer In B-Cells, Kinase Beta 2 3
  • Inhibitor Of Nuclear Factor Kappa-B Kinase Subunit Beta 3 4
  • Nuclear Factor NF-Kappa-B Inhibitor Kinase Beta 3 4
  • I-Kappa-B-Kinase Beta 3 4
  • I-Kappa-B Kinase 2 3 4
  • EC 2.7.11.10 4 51
  • EC 2.7.11 51
  • IMD15A 3
  • IMD15B 3
  • IMD15 3
  • IKBKB 5
  • IKK-B 4
  • IkBKB 4

External Ids for IKBKB Gene

Previous GeneCards Identifiers for IKBKB Gene

  • GC08M041757
  • GC08P042157
  • GC08P041869
  • GC08P042146
  • GC08P042247
  • GC08P040656

Summaries for IKBKB Gene

Entrez Gene Summary for IKBKB Gene

  • 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]

GeneCards Summary for IKBKB Gene

IKBKB (Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Beta) is a Protein Coding gene. Diseases associated with IKBKB include Immunodeficiency 15A and Immunodeficiency 15B. Among its related pathways are GDNF-Family Ligands and Receptor Interactions and Antigen processing-Cross presentation. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein kinase activity. An important paralog of this gene is CHUK.

UniProtKB/Swiss-Prot Summary for IKBKB Gene

  • Serine kinase that plays an essential role in the NF-kappa-B signaling pathway which is activated by multiple stimuli such as inflammatory cytokines, bacterial or viral products, DNA damages or other cellular stresses (PubMed:30337470). Acts as part of the canonical IKK complex in the conventional pathway of NF-kappa-B activation. Phosphorylates inhibitors of NF-kappa-B on 2 critical serine residues. These modifications allow polyubiquitination of the inhibitors and subsequent degradation by the proteasome. In turn, free NF-kappa-B is translocated into the nucleus and activates the transcription of hundreds of genes involved in immune response, growth control, or protection against apoptosis. In addition to the NF-kappa-B inhibitors, phosphorylates several other components of the signaling pathway including NEMO/IKBKG, NF-kappa-B subunits RELA and NFKB1, as well as IKK-related kinases TBK1 and IKBKE. IKK-related kinase phosphorylations may prevent the overproduction of inflammatory mediators since they exert a negative regulation on canonical IKKs. Phosphorylates FOXO3, mediating the TNF-dependent inactivation of this pro-apoptotic transcription factor. Also phosphorylates other substrates including NCOA3, BCL10 and IRS1. Within the nucleus, acts as an adapter protein for NFKBIA degradation in UV-induced NF-kappa-B activation (PubMed:11297557, PubMed:15084260, PubMed:17213322, PubMed:19716809, PubMed:20410276, PubMed:20434986, PubMed:20797629, PubMed:21138416, PubMed:30337470). Phosphorylates RIPK1 at 'Ser-25' which represses its kinase activity and consequently prevents TNF-mediated RIPK1-dependent cell death (By similarity).

Tocris Summary for IKBKB Gene

  • IkappaB Kinase (IKK) is an enzyme complex that forms part of the NF-kappaB signaling pathway. The IKK complex is comprised of three subunits (IKKalpha (IKK1), IKKbeta (IKK2) and IKKgamma (NEMO)), the alpha- and beta-subunits are catalytically active whereas the gamma-subunit has a regulatory function.

Gene Wiki entry for IKBKB Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IKBKB Gene

Genomics for IKBKB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IKBKB Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IKBKB on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IKBKB

Top Transcription factor binding sites by QIAGEN in the IKBKB gene promoter:
  • c-Myc
  • C/EBPalpha
  • C/EBPbeta
  • ER-alpha
  • HTF
  • Max1
  • p53
  • POU3F2
  • RREB-1
  • STAT1

Genomic Locations for IKBKB Gene

Genomic Locations for IKBKB Gene
chr8:42,270,727-42,332,653
(GRCh38/hg38)
Size:
61,927 bases
Orientation:
Plus strand
chr8:42,128,820-42,190,171
(GRCh37/hg19)
Size:
61,352 bases
Orientation:
Plus strand

Genomic View for IKBKB Gene

Genes around IKBKB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IKBKB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IKBKB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IKBKB Gene

Proteins for IKBKB Gene

  • Protein details for IKBKB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14920-IKKB_HUMAN
    Recommended name:
    Inhibitor of nuclear factor kappa-B kinase subunit beta
    Protein Accession:
    O14920
    Secondary Accessions:
    • B4DZ30
    • B4E0U4
    • O75327

    Protein attributes for IKBKB Gene

    Size:
    756 amino acids
    Molecular mass:
    86564 Da
    Quaternary structure:
    • Component of the I-kappa-B-kinase (IKK) core complex consisting of CHUK, IKBKB and IKBKG; probably four alpha/CHUK-beta/IKBKB dimers are associated with four gamma/IKBKG subunits. The IKK core complex seems to associate with regulatory or adapter proteins to form a IKK-signalosome holo-complex (PubMed:12612076). The IKK complex associates with TERF2IP/RAP1, leading to promote IKK-mediated phosphorylation of RELA/p65 (By similarity). Part of a complex composed of NCOA2, NCOA3, CHUK/IKKA, IKBKB, IKBKG and CREBBP (PubMed:11971985). Part of a 70-90 kDa complex at least consisting of CHUK/IKKA, IKBKB, NFKBIA, RELA, ELP1 and MAP3K14 (PubMed:9751059). Found in a membrane raft complex, at least composed of BCL10, CARD11, DPP4 and IKBKB (PubMed:17287217). Interacts with SQSTM1 through PRKCZ or PRKCI (PubMed:10356400). Forms an NGF-induced complex with IKBKB, PRKCI and TRAF6 (By similarity). May interact with MAVS/IPS1 (PubMed:16177806). Interacts with NALP2 (PubMed:15456791). Interacts with TICAM1 (PubMed:14739303). Interacts with FAF1; the interaction disrupts the IKK complex formation (PubMed:17684021). Interacts with ATM (PubMed:16497931). Part of a ternary complex consisting of TANK, IKBKB and IKBKG (PubMed:12133833). Interacts with NIBP; the interaction is direct (PubMed:15951441). Interacts with ARRB1 and ARRB2 (PubMed:15173580). Interacts with TRIM21 (PubMed:19675099). Interacts with NLRC5; prevents IKBKB phosphorylation and kinase activity (PubMed:20434986). Interacts with PDPK1 (PubMed:16207722). Interacts with EIF2AK2/PKR (PubMed:10848580). The phosphorylated form interacts with PPM1A and PPM1B (PubMed:18930133). Interacts with ZNF268 isoform 2; the interaction is further increased in a TNF-alpha-dependent manner (PubMed:23091055). Interacts with IKBKE (PubMed:23453969). Interacts with NAA10, leading to NAA10 degradation (PubMed:19716809). Interacts with FOXO3 (PubMed:15084260). Interacts with AKAP13 (PubMed:23090968). Interacts with IFIT5; the interaction synergizes the recruitment of IKK to MAP3K7 and enhances IKK phosphorylation (PubMed:26334375). Interacts with LRRC14; disrupts IKBKB-IKBKG interaction preventing I-kappa-B-kinase (IKK) core complex formation and leading to a decrease of IKBKB phosphorylation and NF-kappaB activation (PubMed:27426725). Interacts with SASH1 (PubMed:23776175). Interacts with ARFIP2 (PubMed:26296658).
    • (Microbial infection) Interacts with Yersinia yopJ.
    • (Microbial infection) Interacts with vaccinia virus protein B14.

    Three dimensional structures from OCA and Proteopedia for IKBKB Gene

    Alternative splice isoforms for IKBKB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IKBKB Gene

Selected DME Specific Peptides for IKBKB Gene

O14920:
  • DQGSLCTSFVGTLQYLAPEL
  • HKIIDLGYAK
  • PLLAMEYC
  • QGQRAAM
  • RLGTGGFGNV
  • QLSKTVVCKQKALELLPKVEEVV
  • RDLKPEN
  • QQLKAKL
  • IIHRDLKPENIVLQ
  • MKERLGTGGFG
  • TVDYWSFGT

Post-translational modifications for IKBKB Gene

  • Upon cytokine stimulation, phosphorylated on Ser-177 and Ser-181 by MEKK1 and/or MAP3K14/NIK as well as TBK1 and PRKCZ; which enhances activity. Once activated, autophosphorylates on the C-terminal serine cluster; which decreases activity and prevents prolonged activation of the inflammatory response. Phosphorylated by the IKK-related kinases TBK1 and IKBKE, which is associated with reduced CHUK/IKKA and IKBKB activity and NF-kappa-B-dependent gene transcription. Dephosphorylated at Ser-177 and Ser-181 by PPM1A and PPM1B.
  • (Microbial infection) Acetylation of Thr-180 by Yersinia yopJ prevents phosphorylation and activation, thus blocking the I-kappa-B pathway.
  • Ubiquitinated. Monoubiquitination involves TRIM21 that leads to inhibition of Tax-induced NF-kappa-B signaling. According to PubMed:19675099, 'Ser-163' does not serve as a monoubiquitination site. According to PubMed:16267042, ubiquitination on 'Ser-163' modulates phosphorylation on C-terminal serine residues.
  • (Microbial infection) Monoubiquitination by TRIM21 is disrupted by Yersinia yopJ.
  • Hydroxylated by PHD1/EGLN2, loss of hydroxylation under hypoxic conditions results in activation of NF-kappa-B.
  • Ubiquitination at Lys106, Lys163, and Lys555
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for IKBKB Gene

Gene Families for IKBKB Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for IKBKB Gene

Suggested Antigen Peptide Sequences for IKBKB Gene

GenScript: Design optimal peptide antigens:
  • IKBKB protein (A1L159_HUMAN)
  • cDNA FLJ33978 fis, clone DFNES2004354, highly similar to Inhibitor of nuclear factor kappa B kinase subunit beta (EC 2.7.11.10) (B3KRB7_HUMAN)
  • cDNA FLJ58217, highly similar to Inhibitor of nuclear factor kappa B kinase subunit beta (EC 2.7.11.10) (B4E0U4_HUMAN)
  • Nuclear factor NF-kappa-B inhibitor kinase beta (IKKB_HUMAN)
  • IKBKB protein (Q32ND9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O14920

UniProtKB/Swiss-Prot:

IKKB_HUMAN :
  • The kinase domain is located in the N-terminal region. The leucine zipper is important to allow homo- and hetero-dimerization. At the C-terminal region is located the region responsible for the interaction with NEMO/IKBKG.
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. I-kappa-B kinase subfamily.
Domain:
  • The kinase domain is located in the N-terminal region. The leucine zipper is important to allow homo- and hetero-dimerization. At the C-terminal region is located the region responsible for the interaction with NEMO/IKBKG.
Family:
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. I-kappa-B kinase subfamily.
genes like me logo Genes that share domains with IKBKB: view

Function for IKBKB Gene

Molecular function for IKBKB Gene

UniProtKB/Swiss-Prot Function:
Serine kinase that plays an essential role in the NF-kappa-B signaling pathway which is activated by multiple stimuli such as inflammatory cytokines, bacterial or viral products, DNA damages or other cellular stresses (PubMed:30337470). Acts as part of the canonical IKK complex in the conventional pathway of NF-kappa-B activation. Phosphorylates inhibitors of NF-kappa-B on 2 critical serine residues. These modifications allow polyubiquitination of the inhibitors and subsequent degradation by the proteasome. In turn, free NF-kappa-B is translocated into the nucleus and activates the transcription of hundreds of genes involved in immune response, growth control, or protection against apoptosis. In addition to the NF-kappa-B inhibitors, phosphorylates several other components of the signaling pathway including NEMO/IKBKG, NF-kappa-B subunits RELA and NFKB1, as well as IKK-related kinases TBK1 and IKBKE. IKK-related kinase phosphorylations may prevent the overproduction of inflammatory mediators since they exert a negative regulation on canonical IKKs. Phosphorylates FOXO3, mediating the TNF-dependent inactivation of this pro-apoptotic transcription factor. Also phosphorylates other substrates including NCOA3, BCL10 and IRS1. Within the nucleus, acts as an adapter protein for NFKBIA degradation in UV-induced NF-kappa-B activation (PubMed:11297557, PubMed:15084260, PubMed:17213322, PubMed:19716809, PubMed:20410276, PubMed:20434986, PubMed:20797629, PubMed:21138416, PubMed:30337470). Phosphorylates RIPK1 at 'Ser-25' which represses its kinase activity and consequently prevents TNF-mediated RIPK1-dependent cell death (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[I-kappa-B protein]-L-serine + ATP = [I-kappa-B protein]-O-phospho-L-serine + ADP + H(+); Xref=Rhea:RHEA:19073, Rhea:RHEA-COMP:13698, Rhea:RHEA-COMP:13699, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.10;.
GENATLAS Biochemistry:
inhibitor of kappa light polypeptide enhancer in B cells,kinase beta,complexing with IKBKA

Enzyme Numbers (IUBMB) for IKBKB Gene

Phenotypes From GWAS Catalog for IKBKB Gene

Gene Ontology (GO) - Molecular Function for IKBKB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA,IDA 20434986
GO:0004674 protein serine/threonine kinase activity TAS --
GO:0005515 protein binding IEA,IPI 9520446
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with IKBKB: view
genes like me logo Genes that share phenotypes with IKBKB: view

Human Phenotype Ontology for IKBKB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IKBKB Gene

MGI Knock Outs for IKBKB:

Animal Model Products

  • Taconic Biosciences Mouse Models for IKBKB

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IKBKB

Clone Products

  • Addgene plasmids for IKBKB

No data available for Transcription Factor Targets and HOMER Transcription for IKBKB Gene

Localization for IKBKB Gene

Subcellular locations from UniProtKB/Swiss-Prot for IKBKB Gene

Cytoplasm. Nucleus. Membrane raft. Note=Colocalized with DPP4 in membrane rafts. {ECO:0000269 PubMed:17287217}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IKBKB gene
Compartment Confidence
cytosol 5
plasma membrane 4
nucleus 4
extracellular 3
mitochondrion 3
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for IKBKB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol IDA,TAS --
GO:0008385 IkappaB kinase complex IBA,TAS 18626576
GO:0009898 cytoplasmic side of plasma membrane ISS --
genes like me logo Genes that share ontologies with IKBKB: view

Pathways & Interactions for IKBKB Gene

PathCards logo

SuperPathways for IKBKB Gene

SuperPathway Contained pathways
1 Activated TLR4 signalling
2 TNFR1 Pathway
.87
.87
.56
.55
.52
.46
.42
.42
.40
.35
3 4-1BB Pathway
.54
.54
.48
.46
.42
.42
.37
.36
.30
4 Cytosolic sensors of pathogen-associated DNA
5 Toll-like Receptor Signaling Pathway
genes like me logo Genes that share pathways with IKBKB: view

Pathways by source for IKBKB Gene

44 GeneGo (Thomson Reuters) pathways for IKBKB Gene
  • Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway
  • Apoptosis and survival Anti-apoptotic TNFs/NF-kB/IAP pathway
  • Apoptosis and survival APRIL and BAFF signaling
  • Apoptosis and survival Lymphotoxin-beta receptor signaling
  • Apoptosis and survival TNFR1 signaling pathway
63 Qiagen pathways for IKBKB Gene
  • 14-3-3 Induced Apoptosis
  • 4-1BB Pathway
  • Activation of NF-KappaB by PKR
  • Akt Signaling
  • Angiopoietin-TIE2 Signaling
2 Cell Signaling Technology pathways for IKBKB Gene
3 GeneTex pathways for IKBKB Gene

SIGNOR curated interactions for IKBKB Gene

Gene Ontology (GO) - Biological Process for IKBKB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0002756 MyD88-independent toll-like receptor signaling pathway TAS --
GO:0006468 protein phosphorylation IEA,NAS 9346484
GO:0006954 inflammatory response TAS 18626576
genes like me logo Genes that share ontologies with IKBKB: view

Drugs & Compounds for IKBKB Gene

(66) Drugs for IKBKB Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Arsenic trioxide Approved, Investigational Pharma Target, inducer, inhibitor 131
Auranofin Approved, Investigational Pharma Activator, Activation, Target, inhibitor Thioredoxin reductase inhibitor; induces MPT 12
Sulfasalazine Approved Pharma Inhibitor, Inhibition, Target, inhibitor NF-κB activation inhibitor 84
Mesalazine Approved Pharma Target, inhibitor 0
Aspirin Approved, Vet_approved Pharma Channel blocker, Target 1512

(28) Additional Compounds for IKBKB Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
IKK 16
1186195-62-9

(3) Tocris Compounds for IKBKB Gene

Compound Action Cas Number
Amlexanox Inhibitor of TBK1 and IKKepsilon; antiallergic agent 68302-57-8
IKK 16 Selective inhibitor of IKK 1186195-62-9
TPCA-1 Potent, selective inhibitor of IKKbeta 507475-17-4

(23) ApexBio Compounds for IKBKB Gene

Compound Action Cas Number
ACHP IκB kinase inhibitor 406208-42-2
Andrographolide NF-κB signaling Inhibitor 5508-58-7
Bardoxolone methyl IKK inhibitor, potent antioxidant inflammation modulator 218600-53-4
Bay 11-7085 NK-κB activation inhibitor 196309-76-9
Bay 11-7821(BAY 11-7082) IKK/NF-κB/TNFα inhibitor 19542-67-7
Bay 65-1942 HCl salt 600734-06-3
BMS-345541 IKK inhibitor,highly selective 547757-23-3
BMS-345541(free base) IKK-1/IKK-2 inhibitor,potent and selective 445430-58-0
Choline Fenofibrate Choline salt of fenofibric acid 856676-23-8
Honokiol Antioxidant/antitumor/antiangiogenic agent 35354-74-6
IKK-16 (IKK Inhibitor VII) Selective IκB kinase inhibitor 873225-46-8
IKK-2 inhibitor VIII IKK-2 inhibitor,potent and selective 406209-26-5
IMD 0354 978-62-1
Luteolin Antioxidant and free radical scavenger 491-70-3
LY2409881 946518-60-1
ML 120B dihydrochloride
MLN120B IκB Kinase β Inhibitor 783348-36-7
PF 184 1187460-81-6
PS 1145 dihydrochloride 1049743-58-9
SC-514 ATP-competitive IKK-2 inhibitor, orally active 354812-17-2
Tanshinone IIA Antioxidant and anti-inflammatory reagent 568-72-9
TPCA-1 IKK-2 inhibitor,potent and selective 507475-17-4
WS6 1421227-53-3
genes like me logo Genes that share compounds with IKBKB: view

Drug Products

Transcripts for IKBKB Gene

mRNA/cDNA for IKBKB Gene

5 REFSEQ mRNAs :
28 NCBI additional mRNA sequence :
33 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IKBKB

Clone Products

  • Addgene plasmids for IKBKB

Alternative Splicing Database (ASD) splice patterns (SP) for IKBKB Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18 ^ 19 ^ 20a ·
SP1: - - - - -
SP2: - - - - -
SP3: - - - - - - - - - - -
SP4: - -
SP5: -
SP6:
SP7:
SP8:

ExUns: 20b ^ 21 ^ 22a · 22b ^ 23a · 23b · 23c
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6: -
SP7: -
SP8:

Relevant External Links for IKBKB Gene

GeneLoc Exon Structure for
IKBKB

Expression for IKBKB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IKBKB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for IKBKB Gene

This gene is overexpressed in Lymph node (21.0) and Peripheral blood mononuclear cells (15.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IKBKB Gene



Protein tissue co-expression partners for IKBKB Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IKBKB

SOURCE GeneReport for Unigene cluster for IKBKB Gene:

Hs.597664

mRNA Expression by UniProt/SwissProt for IKBKB Gene:

O14920-IKKB_HUMAN
Tissue specificity: Highly expressed in heart, placenta, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis and peripheral blood.

Evidence on tissue expression from TISSUES for IKBKB Gene

  • Lung(4.6)
  • Liver(4.6)
  • Heart(4.6)
  • Nervous system(4.5)
  • Skin(3.6)
  • Blood(3.3)
  • Intestine(3.3)
  • Spleen(3.3)
  • Lymph node(3.2)
  • Muscle(3.1)
  • Kidney(3)
  • Bone marrow(2.9)
  • Stomach(2.7)
  • Pancreas(2.7)
  • Thyroid gland(2.4)
  • Adrenal gland(2.3)
  • Bone(2.2)
  • Eye(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IKBKB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • lymphatic
  • respiratory
Regions:
Thorax:
  • bronchus
  • lung
Abdomen:
  • intestine
  • large intestine
  • small intestine
Pelvis:
  • anus
  • rectum
General:
  • blood
  • bone marrow
  • white blood cell
genes like me logo Genes that share expression patterns with IKBKB: view

No data available for mRNA differential expression in normal tissues for IKBKB Gene

Orthologs for IKBKB Gene

This gene was present in the common ancestor of animals.

Orthologs for IKBKB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia IKBKB 30 31
  • 98.48 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia IKBKB 30 31
  • 90.11 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia IKBKB 31
  • 89 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia IKBKB 31
  • 89 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Ikbkb 30 17 31
  • 87.15 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ikbkb 30
  • 87.11 (n)
Cow
(Bos Taurus)
Mammalia IKBKB 30 31
  • 86.86 (n)
OneToOne
Chicken
(Gallus gallus)
Aves IKBKB 30 31
  • 67.94 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia IKBKB 31
  • 75 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ikbkb 30
  • 70.54 (n)
Str.17591 30
Zebrafish
(Danio rerio)
Actinopterygii ikbkb 30 31
  • 62.47 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta ird5 31 32
  • 22 (a)
OneToMany
Species where no ortholog for IKBKB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for IKBKB Gene

ENSEMBL:
Gene Tree for IKBKB (if available)
TreeFam:
Gene Tree for IKBKB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IKBKB: view image

Paralogs for IKBKB Gene

Paralogs for IKBKB Gene

(17) SIMAP similar genes for IKBKB Gene using alignment to 12 proteins:

  • IKKB_HUMAN
  • A1L159_HUMAN
  • B3KRB7_HUMAN
  • E5RFG5_HUMAN
  • E5RFT3_HUMAN
  • E5RGA0_HUMAN
  • E5RGW5_HUMAN
  • E5RIW0_HUMAN
  • E5RJH2_HUMAN
  • G3V105_HUMAN
  • J3KNS5_HUMAN
  • Q32ND9_HUMAN
genes like me logo Genes that share paralogs with IKBKB: view

Variants for IKBKB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IKBKB Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
638981 Uncertain Significance: Immunodeficiency 15 42,320,832(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
641287 Uncertain Significance: Immunodeficiency 15 42,290,279(+) G/T INTRON_VARIANT
641937 Uncertain Significance: Immunodeficiency 15 42,326,062(+) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
646483 Uncertain Significance: Immunodeficiency 15 42,329,128(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
649552 Uncertain Significance: Immunodeficiency 15 42,318,648(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for IKBKB Gene

Structural Variations from Database of Genomic Variants (DGV) for IKBKB Gene

Variant ID Type Subtype PubMed ID
dgv128n16 CNV deletion 17901297
dgv36e209 CNV deletion 24192839
dgv7185n100 CNV gain 25217958
esv1003654 CNV deletion 20482838
esv1761681 CNV deletion 17803354
esv2736935 CNV deletion 23290073
esv3543424 CNV deletion 23714750
esv3543425 CNV deletion 23714750
esv3617007 CNV loss 21293372
nsv1132145 CNV deletion 24896259
nsv1145767 CNV deletion 26484159
nsv398024 CNV deletion 16902084
nsv476099 CNV novel sequence insertion 20440878
nsv508508 CNV deletion 20534489
nsv611131 CNV gain 21841781
nsv6169 CNV deletion 18451855
nsv831301 CNV loss 17160897

Variation tolerance for IKBKB Gene

Residual Variation Intolerance Score: 49.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.39; 54.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IKBKB Gene

Human Gene Mutation Database (HGMD)
IKBKB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IKBKB

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IKBKB Gene

Disorders for IKBKB Gene

MalaCards: The human disease database

(30) MalaCards diseases for IKBKB Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency 15a
  • imd15a
immunodeficiency 15b
  • imd15b
severe combined immunodeficiency due to ikk2 deficiency
  • scid due to ikk2 deficiency
incontinentia pigmenti
  • incontinentia pigmenti achromians