IKBKG
Summary: This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Mar 2016].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| inhibitor of nuclear factor kappa B kinase subunit gamma | MIM:300248 | Ensembl:ENSG00000269335 | HGNC:HGNC:5961 | PA29777 | Xq28 |
GO terms in IKBKG
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0019904 | protein domain specific binding |
| MF | IPI | GO:0031625 | ubiquitin protein ligase binding |
| MF | IPI | GO:0042802 | identical protein binding |
| MF | IDA | GO:0042803 | protein homodimerization activity |
| MF | IEA | GO:0042975 | peroxisome proliferator activated receptor binding |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | IDA | GO:0046982 | protein heterodimerization activity |
| MF | IBA | GO:0070530 | K63-linked polyubiquitin modification-dependent protein binding |
| MF | IDA | GO:1990450 | linear polyubiquitin binding |
| CC | IPI | GO:0000151 | ubiquitin ligase complex |
| CC | IDA | GO:0000922 | spindle pole |
| CC | IDA | GO:0005622 | intracellular |
| CC | IBA | GO:0005634 | nucleus |
| CC | IDA | GO:0005634 | nucleus |
| CC | IBA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
| CC | IBA | GO:0008385 | IkappaB kinase complex |
| CC | IDA | GO:0008385 | IkappaB kinase complex |
| CC | TAS | GO:0008385 | IkappaB kinase complex |
| CC | TAS | GO:0008385 | IkappaB kinase complex |
| CC | IDA | GO:0072686 | mitotic spindle |
| BP | TAS | GO:0000187 | activation of MAPK activity |
| BP | TAS | GO:0002223 | stimulatory C-type lectin receptor signaling pathway |
| BP | TAS | GO:0002479 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent |
| BP | TAS | GO:0002756 | MyD88-independent toll-like receptor signaling pathway |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | TAS | GO:0006915 | apoptotic process |
| BP | TAS | GO:0006954 | inflammatory response |
| BP | TAS | GO:0006955 | immune response |
| BP | IDA | GO:0006974 | cellular response to DNA damage stimulus |
| BP | IMP | GO:0006974 | cellular response to DNA damage stimulus |
| BP | TAS | GO:0007249 | I-kappaB kinase/NF-kappaB signaling |
| BP | TAS | GO:0007254 | JNK cascade |
| BP | TAS | GO:0009615 | response to virus |
| BP | TAS | GO:0010803 | regulation of tumor necrosis factor-mediated signaling pathway |
| BP | IEA | GO:0016032 | viral process |
| BP | ISS | GO:0016239 | positive regulation of macroautophagy |
| BP | TAS | GO:0016579 | protein deubiquitination |
| BP | TAS | GO:0035666 | TRIF-dependent toll-like receptor signaling pathway |
| BP | TAS | GO:0038095 | Fc-epsilon receptor signaling pathway |
| BP | IBA | GO:0043122 | regulation of I-kappaB kinase/NF-kappaB signaling |
| BP | IBA | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling |
| BP | IDA | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling |
| BP | TAS | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling |
| BP | ISS | GO:0043276 | anoikis |
| BP | TAS | GO:0045087 | innate immune response |
| BP | IDA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | NAS | GO:0050852 | T cell receptor signaling pathway |
| BP | TAS | GO:0050852 | T cell receptor signaling pathway |
| BP | IDA | GO:0051092 | positive regulation of NF-kappaB transcription factor activity |
| BP | TAS | GO:0051092 | positive regulation of NF-kappaB transcription factor activity |
| BP | TAS | GO:0051403 | stress-activated MAPK cascade |
| BP | IMP | GO:0051650 | establishment of vesicle localization |
| BP | TAS | GO:0070423 | nucleotide-binding oligomerization domain containing signaling pathway |
| BP | TAS | GO:0070498 | interleukin-1-mediated signaling pathway |
| BP | TAS | GO:1901215 | negative regulation of neuron death |
Gene expression in normal tissue: IKBKG
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in IKBKG
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| pid | bcr_5pathway | BCR signaling pathway |
| pid | cd8tcrpathway | TCR signaling in naïve CD8+ T cells |
| pid | faspathway | FAS (CD95) signaling pathway |
| pid | fcer1pathway | Fc-epsilon receptor I signaling in mast cells |
| pid | il1pathway | IL1-mediated signaling events |
| pid | nfkappabcanonicalpathway | Canonical NF-kappaB pathway |
| pid | p75ntrpathway | p75(NTR)-mediated signaling |
| pid | tcr_pathway | TCR signaling in naïve CD4+ T cells |
| pid | tnfpathway | TNF receptor signaling pathway |
| pid | toll_endogenous_pathway | Endogenous TLR signaling |
| pid | trail_pathway | TRAIL signaling pathway |
| kegg | hsa04010 | MAPK signaling pathway - Homo sapiens (human) |
| kegg | hsa04014 | Ras signaling pathway - Homo sapiens (human) |
| kegg | hsa04062 | Chemokine signaling pathway - Homo sapiens (human) |
| kegg | hsa04064 | NF-kappa B signaling pathway - Homo sapiens (human) |
| kegg | hsa04151 | PI3K-Akt signaling pathway - Homo sapiens (human) |
| kegg | hsa04210 | Apoptosis - Homo sapiens (human) |
| kegg | hsa04380 | Osteoclast differentiation - Homo sapiens (human) |
| kegg | hsa04620 | Toll-like receptor signaling pathway - Homo sapiens (human) |
| kegg | hsa04621 | NOD-like receptor signaling pathway - Homo sapiens (human) |
| kegg | hsa04622 | RIG-I-like receptor signaling pathway - Homo sapiens (human) |
| kegg | hsa04623 | Cytosolic DNA-sensing pathway - Homo sapiens (human) |
| kegg | hsa04625 | C-type lectin receptor signaling pathway - Homo sapiens (human) |
| kegg | hsa04657 | IL-17 signaling pathway - Homo sapiens (human) |
| kegg | hsa04658 | Th1 and Th2 cell differentiation - Homo sapiens (human) |
| kegg | hsa04659 | Th17 cell differentiation - Homo sapiens (human) |
| kegg | hsa04660 | T cell receptor signaling pathway - Homo sapiens (human) |
| kegg | hsa04662 | B cell receptor signaling pathway - Homo sapiens (human) |
| kegg | hsa04668 | TNF signaling pathway - Homo sapiens (human) |
| kegg | hsa04920 | Adipocytokine signaling pathway - Homo sapiens (human) |
| kegg | hsa05120 | Epithelial cell signaling in Helicobacter pylori infection - Homo sapiens (human) |
| kegg | hsa05131 | Shigellosis - Homo sapiens (human) |
| kegg | hsa05142 | Chagas disease (American trypanosomiasis) - Homo sapiens (human) |
| kegg | hsa05145 | Toxoplasmosis - Homo sapiens (human) |
| kegg | hsa05160 | Hepatitis C - Homo sapiens (human) |
| kegg | hsa05161 | Hepatitis B - Homo sapiens (human) |
| kegg | hsa05165 | Human papillomavirus infection - Homo sapiens (human) |
| kegg | hsa05166 | HTLV-I infection - Homo sapiens (human) |
| kegg | hsa05167 | Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human) |
| kegg | hsa05168 | Herpes simplex infection - Homo sapiens (human) |
| kegg | hsa05169 | Epstein-Barr virus infection - Homo sapiens (human) |
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
| kegg | hsa05203 | Viral carcinogenesis - Homo sapiens (human) |
| kegg | hsa05212 | Pancreatic cancer - Homo sapiens (human) |
| kegg | hsa05215 | Prostate cancer - Homo sapiens (human) |
| kegg | hsa05220 | Chronic myeloid leukemia - Homo sapiens (human) |
| kegg | hsa05221 | Acute myeloid leukemia - Homo sapiens (human) |
| kegg | hsa05222 | Small cell lung cancer - Homo sapiens (human) |
| kegg | hsa05340 | Primary immunodeficiency - Homo sapiens (human) |
| kegg | hsa05418 | Fluid shear stress and atherosclerosis - Homo sapiens (human) |
| netpath | Pathway_Leptin | Leptin |
| netpath | Pathway_TNFalpha | TNFalpha |
| wikipathways | WP1433 | Nucleotide-binding Oligomerization Domain (NOD) pathway |
| wikipathways | WP1449 | Regulation of toll-like receptor signaling pathway |
| wikipathways | WP1544 | MicroRNAs in cardiomyocyte hypertrophy |
| wikipathways | WP195 | IL-1 signaling pathway |
| wikipathways | WP2018 | RANKL-RANK (Receptor activator of NFKB (ligand)) Signaling Pathway |
| wikipathways | WP2034 | Leptin signaling pathway |
| wikipathways | WP2112 | IL17 signaling pathway |
| wikipathways | WP23 | B Cell Receptor Signaling Pathway |
| wikipathways | WP231 | TNF alpha Signaling Pathway |
| wikipathways | WP2380 | Brain-Derived Neurotrophic Factor (BDNF) signaling pathway |
| wikipathways | WP254 | Apoptosis |
| wikipathways | WP2593 | JAK-STAT |
| wikipathways | WP262 | EBV LMP1 signaling |
| wikipathways | WP2795 | Cardiac Hypertrophic Response |
| wikipathways | WP288 | NLR Proteins |
| wikipathways | WP3303 | Rac1-Pak1-p38-MMP-2 pathway |
| wikipathways | WP3639 | Apoptotic Signaling Pathway |
| wikipathways | WP382 | MAPK Signaling Pathway |
| wikipathways | WP3849 | MAPK and NFkB Signalling Pathways Inhibited by Yersinia YopJ |
| wikipathways | WP3858 | Toll-like Receptor Signaling |
| wikipathways | WP3863 | T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection |
| wikipathways | WP3865 | RIG-I-like Receptor Signaling |
| wikipathways | WP3878 | ATM Signaling Network in Development and Disease |
| wikipathways | WP3929 | Chemokine signaling pathway |
| wikipathways | WP3932 | Focal Adhesion-PI3K-Akt-mTOR-signaling pathway |
| wikipathways | WP3981 | miRNA regulation of prostate cancer signaling pathways |
| wikipathways | WP4136 | Fibrin Complement Receptor 3 Signaling Pathway |
| wikipathways | WP4172 | PI3K-Akt Signaling Pathway |
| wikipathways | WP4223 | Ras Signaling |
| wikipathways | WP69 | T-Cell antigen Receptor (TCR) Signaling Pathway |
| wikipathways | WP712 | Estrogen signaling pathway |
| wikipathways | WP75 | Toll-like Receptor Signaling Pathway |
| reactome | R-HSA-1168372 | Downstream signaling events of B Cell Receptor (BCR) |
| reactome | R-HSA-1168372 | Downstream signaling events of B Cell Receptor (BCR) |
| reactome | R-HSA-1169091 | Activation of NF-kappaB in B cells |
| reactome | R-HSA-1169091 | Activation of NF-kappaB in B cells |
| reactome | R-HSA-1236974 | ER-Phagosome pathway |
| reactome | R-HSA-1236975 | Antigen processing-Cross presentation |
| reactome | R-HSA-1280215 | Cytokine Signaling in Immune system |
| reactome | R-HSA-1280218 | Adaptive Immune System |
| reactome | R-HSA-1280218 | Adaptive Immune System |
| reactome | R-HSA-1606322 | ZBP1(DAI) mediated induction of type I IFNs |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-166016 | Toll Like Receptor 4 (TLR4) Cascade |
| reactome | R-HSA-166058 | MyD88:Mal cascade initiated on plasma membrane |
| reactome | R-HSA-166166 | MyD88-independent TLR4 cascade |
| reactome | R-HSA-168138 | Toll Like Receptor 9 (TLR9) Cascade |
| reactome | R-HSA-168142 | Toll Like Receptor 10 (TLR10) Cascade |
| reactome | R-HSA-168164 | Toll Like Receptor 3 (TLR3) Cascade |
| reactome | R-HSA-168176 | Toll Like Receptor 5 (TLR5) Cascade |
| reactome | R-HSA-168179 | Toll Like Receptor TLR1:TLR2 Cascade |
| reactome | R-HSA-168181 | Toll Like Receptor 7/8 (TLR7/8) Cascade |
| reactome | R-HSA-168188 | Toll Like Receptor TLR6:TLR2 Cascade |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-168638 | NOD1/2 Signaling Pathway |
| reactome | R-HSA-168643 | Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways |
| reactome | R-HSA-168898 | Toll-Like Receptors Cascades |
| reactome | R-HSA-168927 | TICAM1, RIP1-mediated IKK complex recruitment |
| reactome | R-HSA-168928 | DDX58/IFIH1-mediated induction of interferon-alpha/beta |
| reactome | R-HSA-1810476 | RIP-mediated NFkB activation via ZBP1 |
| reactome | R-HSA-181438 | Toll Like Receptor 2 (TLR2) Cascade |
| reactome | R-HSA-1834949 | Cytosolic sensors of pathogen-associated DNA |
| reactome | R-HSA-202403 | TCR signaling |
| reactome | R-HSA-202424 | Downstream TCR signaling |
| reactome | R-HSA-2454202 | Fc epsilon receptor (FCERI) signaling |
| reactome | R-HSA-2871837 | FCERI mediated NF-kB activation |
| reactome | R-HSA-2990846 | SUMOylation |
| reactome | R-HSA-3108232 | SUMO E3 ligases SUMOylate target proteins |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-445989 | TAK1 activates NFkB by phosphorylation and activation of IKKs complex |
| reactome | R-HSA-446652 | Interleukin-1 family signaling |
| reactome | R-HSA-448424 | Interleukin-17 signaling |
| reactome | R-HSA-449147 | Signaling by Interleukins |
| reactome | R-HSA-450294 | MAP kinase activation |
| reactome | R-HSA-450302 | activated TAK1 mediates p38 MAPK activation |
| reactome | R-HSA-450321 | JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1 |
| reactome | R-HSA-4755510 | SUMOylation of immune response proteins |
| reactome | R-HSA-5260271 | Diseases of Immune System |
| reactome | R-HSA-5357905 | Regulation of TNFR1 signaling |
| reactome | R-HSA-5357956 | TNFR1-induced NFkappaB signaling pathway |
| reactome | R-HSA-5602358 | Diseases associated with the TLR signaling cascade |
| reactome | R-HSA-5602636 | IKBKB deficiency causes SCID |
| reactome | R-HSA-5603027 | IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) |
| reactome | R-HSA-5603029 | IkBA variant leads to EDA-ID |
| reactome | R-HSA-5607764 | CLEC7A (Dectin-1) signaling |
| reactome | R-HSA-5621481 | C-type lectin receptors (CLRs) |
| reactome | R-HSA-5684264 | MAP3K8 (TPL2)-dependent MAPK1/3 activation |
| reactome | R-HSA-5688426 | Deubiquitination |
| reactome | R-HSA-5689880 | Ub-specific processing proteases |
| reactome | R-HSA-5689896 | Ovarian tumor domain proteases |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-73887 | Death Receptor Signalling |
| reactome | R-HSA-75893 | TNF signaling |
| reactome | R-HSA-9020702 | Interleukin-1 signaling |
| reactome | R-HSA-933542 | TRAF6 mediated NF-kB activation |
| reactome | R-HSA-933543 | NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10 |
| reactome | R-HSA-937039 | IRAK1 recruits IKK complex |
| reactome | R-HSA-937041 | IKK complex recruitment mediated by RIP1 |
| reactome | R-HSA-937061 | TRIF(TICAM1)-mediated TLR4 signaling |
| reactome | R-HSA-975138 | TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation |
| reactome | R-HSA-975144 | IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation |
| reactome | R-HSA-975155 | MyD88 dependent cascade initiated on endosome |
| reactome | R-HSA-975871 | MyD88 cascade initiated on plasma membrane |
| reactome | R-HSA-983169 | Class I MHC mediated antigen processing & presentation |
| reactome | R-HSA-983705 | Signaling by the B Cell Receptor (BCR) |
| reactome | R-HSA-983705 | Signaling by the B Cell Receptor (BCR) |
| biocarta | cardiacegfpathway | role of egf receptor transactivation by gpcrs in cardiac hypertrophy |
| biocarta | ceramidepathway | ceramide signaling pathway |
| biocarta | gsk3pathway | inactivation of gsk3 by akt causes accumulation of b-catenin in alveolar macrophages |
| biocarta | il1rpathway | signal transduction through il1r |
| biocarta | keratinocytepathway | keratinocyte differentiation |
| biocarta | nfkbpathway | nf-kb signaling pathway |
| biocarta | nthipathway | nfkb activation by nontypeable hemophilus influenzae |
| biocarta | raccycdpathway | influence of ras and rho proteins on g1 to s transition |
| biocarta | ranklpathway | bone remodeling |
| biocarta | rnapathway | double stranded rna induced gene expression |
| biocarta | stresspathway | tnf/stress related signaling |
| biocarta | tffpathway | trefoil factors initiate mucosal healing |
| biocarta | tidpathway | chaperones modulate interferon signaling pathway |
| biocarta | tollpathway | toll-like receptor pathway |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in IKBKG
CLASSFICATION
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