IKBKG (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma)

2003-11-01  

Identity

HGNC
IKBKG
LOCATION
Xq28
LOCUSID
8517
ALIAS
AMCBX1,EDAID1,FIP-3,FIP3,Fip3p,IKK-gamma,IKKAP1,IKKG,IMD33,IP,IP1,IP2,IPD2,NEMO,ZC2HC9
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8517
MIM: 300248
HGNC: 5961
Ensembl: ENSG00000269335

Variants:

dbSNP: 8517
ClinVar: 8517
TCGA: ENSG00000269335
COSMIC: IKBKG

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000269335ENST00000413620C9J2V2
ENSG00000269335ENST00000422680C9JH59
ENSG00000269335ENST00000440286C9JN51
ENSG00000269335ENST00000445622C9JCG6
ENSG00000269335ENST00000492469A0A087X1K7
ENSG00000269335ENST00000594239Q9Y6K9
ENSG00000269335ENST00000611071Q9Y6K9
ENSG00000269335ENST00000611176Q9Y6K9
ENSG00000269335ENST00000612051A0A087WWQ9
ENSG00000269335ENST00000615186A0A087WV30
ENSG00000269335ENST00000615874A0A087X0G7
ENSG00000269335ENST00000617207A0A087X1B1
ENSG00000269335ENST00000618670Q9Y6K9
ENSG00000269335ENST00000619941A0A087WUW6

Expression (GTEx)

0
1
2
3
4
5
6
7
8
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
MAPK signaling pathwayKEGGko04010
ApoptosisKEGGko04210
Toll-like receptor signaling pathwayKEGGko04620
T cell receptor signaling pathwayKEGGko04660
B cell receptor signaling pathwayKEGGko04662
Adipocytokine signaling pathwayKEGGko04920
Epithelial cell signaling in Helicobacter pylori infectionKEGGko05120
Pancreatic cancerKEGGko05212
Prostate cancerKEGGko05215
Chronic myeloid leukemiaKEGGko05220
Acute myeloid leukemiaKEGGko05221
Small cell lung cancerKEGGko05222
Primary immunodeficiencyKEGGko05340
MAPK signaling pathwayKEGGhsa04010
ApoptosisKEGGhsa04210
Toll-like receptor signaling pathwayKEGGhsa04620
T cell receptor signaling pathwayKEGGhsa04660
B cell receptor signaling pathwayKEGGhsa04662
Adipocytokine signaling pathwayKEGGhsa04920
Epithelial cell signaling in Helicobacter pylori infectionKEGGhsa05120
ShigellosisKEGGhsa05131
Pathways in cancerKEGGhsa05200
Pancreatic cancerKEGGhsa05212
Prostate cancerKEGGhsa05215
Chronic myeloid leukemiaKEGGhsa05220
Acute myeloid leukemiaKEGGhsa05221
Small cell lung cancerKEGGhsa05222
Primary immunodeficiencyKEGGhsa05340
Chemokine signaling pathwayKEGGko04062
Chemokine signaling pathwayKEGGhsa04062
RIG-I-like receptor signaling pathwayKEGGko04622
RIG-I-like receptor signaling pathwayKEGGhsa04622
NOD-like receptor signaling pathwayKEGGko04621
NOD-like receptor signaling pathwayKEGGhsa04621
Cytosolic DNA-sensing pathwayKEGGko04623
Cytosolic DNA-sensing pathwayKEGGhsa04623
Chagas disease (American trypanosomiasis)KEGGko05142
Chagas disease (American trypanosomiasis)KEGGhsa05142
ToxoplasmosisKEGGko05145
ToxoplasmosisKEGGhsa05145
Hepatitis CKEGGko05160
Hepatitis CKEGGhsa05160
Osteoclast differentiationKEGGko04380
Osteoclast differentiationKEGGhsa04380
HTLV-I infectionKEGGko05166
HTLV-I infectionKEGGhsa05166
Herpes simplex infectionKEGGko05168
Herpes simplex infectionKEGGhsa05168
Epstein-Barr virus infectionKEGGhsa05169
Epstein-Barr virus infectionKEGGko05169
NF-kappa B signaling pathwayKEGGhsa04064
NF-kappa B signaling pathwayKEGGko04064
Viral carcinogenesisKEGGhsa05203
Viral carcinogenesisKEGGko05203
PI3K-Akt signaling pathwayKEGGhsa04151
PI3K-Akt signaling pathwayKEGGko04151
Hepatitis BKEGGhsa05161
TNF signaling pathwayKEGGhsa04668
TNF signaling pathwayKEGGko04668
Ras signaling pathwayKEGGhsa04014
Toll-like receptor signalingKEGGhsa_M00686
Toll-like receptor signalingKEGGM00686
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
DiseaseREACTOMER-HSA-1643685
Diseases of Immune SystemREACTOMER-HSA-5260271
Diseases associated with the TLR signaling cascadeREACTOMER-HSA-5602358
IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR)REACTOMER-HSA-5603027
IKBKB deficiency causes SCIDREACTOMER-HSA-5602636
IkBA variant leads to EDA-IDREACTOMER-HSA-5603029
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
TCR signalingREACTOMER-HSA-202403
Downstream TCR signalingREACTOMER-HSA-202424
Signaling by the B Cell Receptor (BCR)REACTOMER-HSA-983705
Downstream signaling events of B Cell Receptor (BCR)REACTOMER-HSA-1168372
Activation of NF-kappaB in B cellsREACTOMER-HSA-1169091
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing-Cross presentationREACTOMER-HSA-1236975
ER-Phagosome pathwayREACTOMER-HSA-1236974
Innate Immune SystemREACTOMER-HSA-168249
Toll-Like Receptors CascadesREACTOMER-HSA-168898
Toll Like Receptor 10 (TLR10) CascadeREACTOMER-HSA-168142
MyD88 cascade initiated on plasma membraneREACTOMER-HSA-975871
IRAK1 recruits IKK complexREACTOMER-HSA-937039
TAK1 activates NFkB by phosphorylation and activation of IKKs complexREACTOMER-HSA-445989
MAP kinase activation in TLR cascadeREACTOMER-HSA-450294
JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1REACTOMER-HSA-450321
activated TAK1 mediates p38 MAPK activationREACTOMER-HSA-450302
Toll Like Receptor 3 (TLR3) CascadeREACTOMER-HSA-168164
MyD88-independent TLR3/TLR4 cascadeREACTOMER-HSA-166166
TRIF-mediated TLR3/TLR4 signalingREACTOMER-HSA-937061
IKK complex recruitment mediated by RIP1REACTOMER-HSA-937041
Toll Like Receptor 5 (TLR5) CascadeREACTOMER-HSA-168176
Toll Like Receptor 7/8 (TLR7/8) CascadeREACTOMER-HSA-168181
MyD88 dependent cascade initiated on endosomeREACTOMER-HSA-975155
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activationREACTOMER-HSA-975138
IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulationREACTOMER-HSA-975144
Toll Like Receptor 9 (TLR9) CascadeREACTOMER-HSA-168138
Toll Like Receptor 4 (TLR4) CascadeREACTOMER-HSA-166016
Activated TLR4 signallingREACTOMER-HSA-166054
MyD88:Mal cascade initiated on plasma membraneREACTOMER-HSA-166058
Toll Like Receptor 2 (TLR2) CascadeREACTOMER-HSA-181438
Toll Like Receptor TLR1:TLR2 CascadeREACTOMER-HSA-168179
Toll Like Receptor TLR6:TLR2 CascadeREACTOMER-HSA-168188
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathwaysREACTOMER-HSA-168643
NOD1/2 Signaling PathwayREACTOMER-HSA-168638
RIG-I/MDA5 mediated induction of IFN-alpha/beta pathwaysREACTOMER-HSA-168928
NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10REACTOMER-HSA-933543
TRAF6 mediated NF-kB activationREACTOMER-HSA-933542
Cytosolic sensors of pathogen-associated DNAREACTOMER-HSA-1834949
ZBP1(DAI) mediated induction of type I IFNsREACTOMER-HSA-1606322
RIP-mediated NFkB activation via ZBP1REACTOMER-HSA-1810476
Fc epsilon receptor (FCERI) signalingREACTOMER-HSA-2454202
FCERI mediated NF-kB activationREACTOMER-HSA-2871837
C-type lectin receptors (CLRs)REACTOMER-HSA-5621481
CLEC7A (Dectin-1) signalingREACTOMER-HSA-5607764
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Signaling by InterleukinsREACTOMER-HSA-449147
Interleukin-1 signalingREACTOMER-HSA-446652
Signal TransductionREACTOMER-HSA-162582
Death Receptor SignallingREACTOMER-HSA-73887
TNF signalingREACTOMER-HSA-75893
TNFR1-induced NFkappaB signaling pathwayREACTOMER-HSA-5357956
Regulation of TNFR1 signalingREACTOMER-HSA-5357905
MAP3K8 (TPL2)-dependent MAPK1/3 activationREACTOMER-HSA-5684264
DeubiquitinationREACTOMER-HSA-5688426
Ub-specific processing proteasesREACTOMER-HSA-5689880
Ovarian tumor domain proteasesREACTOMER-HSA-5689896
Antifolate resistanceKEGGko01523
Antifolate resistanceKEGGhsa01523
Th1 and Th2 cell differentiationKEGGko04658
Th1 and Th2 cell differentiationKEGGhsa04658
Th17 cell differentiationKEGGko04659
Th17 cell differentiationKEGGhsa04659
IL-17 signaling pathwayKEGGko04657
Fluid shear stress and atherosclerosisKEGGko05418
IL-17 signaling pathwayKEGGhsa04657
Fluid shear stress and atherosclerosisKEGGhsa05418

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA165111697artesunateChemicalClinicalAnnotationassociatedPD
PA451103primaquineChemicalClinicalAnnotationassociatedPD
PA451193pyrimethamineChemicalClinicalAnnotationassociatedPD
PA451540sulfadoxineChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
385056052024Dual regulation of NEMO by Nrf2 and miR-125a inhibits ferroptosis and protects liver from endoplasmic reticulum stress-induced injury.0
385369522024Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene.0
385056052024Dual regulation of NEMO by Nrf2 and miR-125a inhibits ferroptosis and protects liver from endoplasmic reticulum stress-induced injury.0
385369522024Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene.0
361813382023TREM-1 induces pyroptosis in cardiomyocytes by activating NLRP3 inflammasome through the SMC4/NEMO pathway.5
368940682023SARS-CoV-2 ORF3a positively regulates NF-κB activity by enhancing IKKβ-NEMO interaction.5
376836112023Damaged mitochondria recruit the effector NEMO to activate NF-κB signaling.7
378907812023A conserved core region of the scaffold NEMO is essential for signal-induced conformational change and liquid-liquid phase separation.0
361813382023TREM-1 induces pyroptosis in cardiomyocytes by activating NLRP3 inflammasome through the SMC4/NEMO pathway.5
368940682023SARS-CoV-2 ORF3a positively regulates NF-κB activity by enhancing IKKβ-NEMO interaction.5
376836112023Damaged mitochondria recruit the effector NEMO to activate NF-κB signaling.7
378907812023A conserved core region of the scaffold NEMO is essential for signal-induced conformational change and liquid-liquid phase separation.0
347632262022Fluoride induced down-regulation of IKBKG Gene expression inhibits hepatocytes senescence.1
351630992022Human Genetic Diseases Linked to the Absence of NEMO: An Obligatory Somatic Mosaic Disorder in Male.3
352893162022Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype.13

Citation

Dessen P

IKBKG (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/40938/teaching-explorer/js/lib/humanGenome