Gene table of IKBKG : inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma

Gene-disease associations table

Disease IDDisease nameSource of annotation with IKBKGOMIM linkNumber of associated genesgenes
300301ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS, AND LYMPHEDEMAClinVar, OMIM link to OMIM 1IKBKG
308300INCONTINENTIA PIGMENTIClinVar, OMIM, HUMSAVAR link to OMIM 1IKBKG
300636IMMUNODEFICIENCY 33ClinVar, OMIM, HUMSAVAR link to OMIM 1IKBKG
300291ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCYClinVar, OMIM, HUMSAVAR link to OMIM 1IKBKG
PS610799INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATEDClinVar, OMIM, HUMSAVAR link to OMIM 3IKBKG, TIRAP, IRAK4
300584IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIAOMIM, HUMSAVAR link to OMIM 1IKBKG

Download the gene annotation in CSV format

Annotation of the gene IKBKG

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Shigellosishsa051316.74
Pancreatic cancerhsa052126.56
MAPK signaling pathwayhsa040104.63
Prostate cancerhsa052156.11
Primary immunodeficiencyhsa053407.52
Osteoclast differentiationhsa043805.64
NF-kappa B signaling pathwayhsa040646.21
Chemokine signaling pathwayhsa040625.19
Adipocytokine signaling pathwayhsa049206.6
Chagas disease (American trypanosomiasis)hsa051425.99
Herpes simplex infectionhsa051685.08
Epstein-Barr virus infectionhsa051694.97
Toxoplasmosishsa051455.71
Apoptosishsa042106.23
HTLV-I infectionhsa051664.59
Hepatitis Chsa051605.68
Hepatitis Bhsa051615.52
Epithelial cell signaling in Helicobacter pylori infectionhsa051206.58
Toll-like receptor signaling pathwayhsa046206.0
NOD-like receptor signaling pathwayhsa046216.88
Viral carcinogenesishsa052035.08
Pathways in cancerhsa052003.98
T cell receptor signaling pathwayhsa046606.01
B cell receptor signaling pathwayhsa046626.52
Ras signaling pathwayhsa040144.9
RIG-I-like receptor signaling pathwayhsa046226.62
Acute myeloid leukemiahsa052216.74
Chronic myeloid leukemiahsa052206.48
TNF signaling pathwayhsa046685.96
Cytosolic DNA-sensing pathwayhsa046236.79
PI3K-Akt signaling pathwayhsa041514.21
Small cell lung cancerhsa052226.17
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
TRIF-mediated TLR3/TLR4 signaling R-HSA-9370616.47
C-type lectin receptors (CLRs)R-HSA-56214816.06
Signaling by InterleukinsR-HSA-4491474.71
IKK complex recruitment mediated by RIP1R-HSA-9370418.46
Toll Like Receptor 2 (TLR2) CascadeR-HSA-1814386.51
Immune SystemR-HSA-1682562.37
Toll Like Receptor TLR6:TLR2 CascadeR-HSA-1681886.56
Signaling by the B Cell Receptor (BCR)R-HSA-9837054.62
MyD88 cascade initiated on plasma membraneR-HSA-9758716.73
Cytokine Signaling in Immune systemR-HSA-12802153.74
Diseases associated with the TLR signaling cascadeR-HSA-56023588.34
RIG-I/MDA5 mediated induction of IFN-alpha/beta pathwaysR-HSA-1689286.7
FCERI mediated NF-kB activationR-HSA-28718375.11
Innate Immune SystemR-HSA-1682493.17
Adaptive Immune SystemR-HSA-12802183.19
DiseaseR-HSA-16436853.33
IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulationR-HSA-9751449.18
Toll Like Receptor 10 (TLR10) CascadeR-HSA-1681426.73
IkBA variant leads to EDA-IDR-HSA-560302910.18
Toll Like Receptor 3 (TLR3) CascadeR-HSA-1681646.47
MyD88 dependent cascade initiated on endosomeR-HSA-9751556.68
Toll-Like Receptors CascadesR-HSA-1688985.91
Downstream signaling events of B Cell Receptor (BCR)R-HSA-11683725.59
MyD88-independent TLR3/TLR4 cascade R-HSA-1661666.47
ZBP1(DAI) mediated induction of type I IFNsR-HSA-16063228.28
Activation of NF-kappaB in B cellsR-HSA-11690916.94
TCR signalingR-HSA-2024036.64
Interleukin-1 signalingR-HSA-4466527.52
TRAF6 mediated NF-kB activationR-HSA-9335428.4
NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10R-HSA-9335439.4
activated TAK1 mediates p38 MAPK activationR-HSA-4503028.59
Downstream TCR signalingR-HSA-2024247.01
Fc epsilon receptor (FCERI) signalingR-HSA-24542024.03
Toll Like Receptor 4 (TLR4) CascadeR-HSA-1660166.11
Toll Like Receptor 7/8 (TLR7/8) CascadeR-HSA-1681816.68
NOD1/2 Signaling PathwayR-HSA-1686387.85
MAP kinase activation in TLR cascadeR-HSA-4502947.28
TAK1 activates NFkB by phosphorylation and activation of IKKs complexR-HSA-4459898.08
RIP-mediated NFkB activation via ZBP1R-HSA-18104768.59
Cytosolic sensors of pathogen-associated DNA R-HSA-18349496.94
Diseases of Immune SystemR-HSA-52602718.34
IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR)R-HSA-56030279.98
IRAK1 recruits IKK complexR-HSA-9370399.18
Toll Like Receptor TLR1:TLR2 CascadeR-HSA-1681796.51
IKBKB deficiency causes SCIDR-HSA-560263611.4
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activationR-HSA-9751386.72
Toll Like Receptor 5 (TLR5) CascadeR-HSA-1681766.73
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathwaysR-HSA-1686437.31
MyD88:Mal cascade initiated on plasma membraneR-HSA-1660586.56
CLEC7A (Dectin-1) signalingR-HSA-56077646.38
Activated TLR4 signallingR-HSA-1660546.27
JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1R-HSA-4503218.66
Toll Like Receptor 9 (TLR9) CascadeR-HSA-1681386.62
Associated GO terms for Molecular function
GO termGO IDGO IC
linear polyubiquitin bindingGO:19904509.74
ubiquitin-like protein ligase bindingGO:00443894.15
enzyme bindingGO:00198992.27
bindingGO:00054880.18
signal transducer activityGO:00048712.28
polyubiquitin bindingGO:00315935.98
cation bindingGO:00431691.4
ion bindingGO:00431671.36
transferase activityGO:00167401.95
K63-linked polyubiquitin bindingGO:00705306.79
metal ion bindingGO:00468721.41
identical protein bindingGO:00428022.63
protein homodimerization activityGO:00428033.16
kinase activityGO:00163012.93
catalytic activityGO:00038241.05
protein domain specific bindingGO:00199043.32
protein dimerization activityGO:00469832.72
ubiquitin protein ligase bindingGO:00316254.17
transferase activity, transferring phosphorus-containing groupsGO:00167722.77
ubiquitin-like protein bindingGO:00321824.93
ubiquitin bindingGO:00431305.09
protein bindingGO:00055150.46
peroxisome proliferator activated receptor bindingGO:00429757.03
receptor bindingGO:00051022.43
protein heterodimerization activityGO:00469823.64