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

2003-11-01 Affiliation

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

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000269335	ENST00000413620	C9J2V2
ENSG00000269335	ENST00000422680	C9JH59
ENSG00000269335	ENST00000440286	C9JN51
ENSG00000269335	ENST00000445622	C9JCG6
ENSG00000269335	ENST00000492469	A0A087X1K7
ENSG00000269335	ENST00000594239	Q9Y6K9
ENSG00000269335	ENST00000611071	Q9Y6K9
ENSG00000269335	ENST00000611176	Q9Y6K9
ENSG00000269335	ENST00000612051	A0A087WWQ9
ENSG00000269335	ENST00000615186	A0A087WV30
ENSG00000269335	ENST00000615874	A0A087X0G7
ENSG00000269335	ENST00000617207	A0A087X1B1
ENSG00000269335	ENST00000618670	Q9Y6K9
ENSG00000269335	ENST00000619941	A0A087WUW6

Expression (GTEx)

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

Pathway	Source	External ID
MAPK signaling pathway	KEGG	ko04010
Apoptosis	KEGG	ko04210
Toll-like receptor signaling pathway	KEGG	ko04620
T cell receptor signaling pathway	KEGG	ko04660
B cell receptor signaling pathway	KEGG	ko04662
Adipocytokine signaling pathway	KEGG	ko04920
Epithelial cell signaling in Helicobacter pylori infection	KEGG	ko05120
Pancreatic cancer	KEGG	ko05212
Prostate cancer	KEGG	ko05215
Chronic myeloid leukemia	KEGG	ko05220
Acute myeloid leukemia	KEGG	ko05221
Small cell lung cancer	KEGG	ko05222
Primary immunodeficiency	KEGG	ko05340
MAPK signaling pathway	KEGG	hsa04010
Apoptosis	KEGG	hsa04210
Toll-like receptor signaling pathway	KEGG	hsa04620
T cell receptor signaling pathway	KEGG	hsa04660
B cell receptor signaling pathway	KEGG	hsa04662
Adipocytokine signaling pathway	KEGG	hsa04920
Epithelial cell signaling in Helicobacter pylori infection	KEGG	hsa05120
Shigellosis	KEGG	hsa05131
Pathways in cancer	KEGG	hsa05200
Pancreatic cancer	KEGG	hsa05212
Prostate cancer	KEGG	hsa05215
Chronic myeloid leukemia	KEGG	hsa05220
Acute myeloid leukemia	KEGG	hsa05221
Small cell lung cancer	KEGG	hsa05222
Primary immunodeficiency	KEGG	hsa05340
Chemokine signaling pathway	KEGG	ko04062
Chemokine signaling pathway	KEGG	hsa04062
RIG-I-like receptor signaling pathway	KEGG	ko04622
RIG-I-like receptor signaling pathway	KEGG	hsa04622
NOD-like receptor signaling pathway	KEGG	ko04621
NOD-like receptor signaling pathway	KEGG	hsa04621
Cytosolic DNA-sensing pathway	KEGG	ko04623
Cytosolic DNA-sensing pathway	KEGG	hsa04623
Chagas disease (American trypanosomiasis)	KEGG	ko05142
Chagas disease (American trypanosomiasis)	KEGG	hsa05142
Toxoplasmosis	KEGG	ko05145
Toxoplasmosis	KEGG	hsa05145
Hepatitis C	KEGG	ko05160
Hepatitis C	KEGG	hsa05160
Osteoclast differentiation	KEGG	ko04380
Osteoclast differentiation	KEGG	hsa04380
HTLV-I infection	KEGG	ko05166
HTLV-I infection	KEGG	hsa05166
Herpes simplex infection	KEGG	ko05168
Herpes simplex infection	KEGG	hsa05168
Epstein-Barr virus infection	KEGG	hsa05169
Epstein-Barr virus infection	KEGG	ko05169
NF-kappa B signaling pathway	KEGG	hsa04064
NF-kappa B signaling pathway	KEGG	ko04064
Viral carcinogenesis	KEGG	hsa05203
Viral carcinogenesis	KEGG	ko05203
PI3K-Akt signaling pathway	KEGG	hsa04151
PI3K-Akt signaling pathway	KEGG	ko04151
Hepatitis B	KEGG	hsa05161
TNF signaling pathway	KEGG	hsa04668
TNF signaling pathway	KEGG	ko04668
Ras signaling pathway	KEGG	hsa04014
Toll-like receptor signaling	KEGG	hsa_M00686
Toll-like receptor signaling	KEGG	M00686
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Disease	REACTOME	R-HSA-1643685
Diseases of Immune System	REACTOME	R-HSA-5260271
Diseases associated with the TLR signaling cascade	REACTOME	R-HSA-5602358
IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR)	REACTOME	R-HSA-5603027
IKBKB deficiency causes SCID	REACTOME	R-HSA-5602636
IkBA variant leads to EDA-ID	REACTOME	R-HSA-5603029
Immune System	REACTOME	R-HSA-168256
Adaptive Immune System	REACTOME	R-HSA-1280218
TCR signaling	REACTOME	R-HSA-202403
Downstream TCR signaling	REACTOME	R-HSA-202424
Signaling by the B Cell Receptor (BCR)	REACTOME	R-HSA-983705
Downstream signaling events of B Cell Receptor (BCR)	REACTOME	R-HSA-1168372
Activation of NF-kappaB in B cells	REACTOME	R-HSA-1169091
Class I MHC mediated antigen processing & presentation	REACTOME	R-HSA-983169
Antigen processing-Cross presentation	REACTOME	R-HSA-1236975
ER-Phagosome pathway	REACTOME	R-HSA-1236974
Innate Immune System	REACTOME	R-HSA-168249
Toll-Like Receptors Cascades	REACTOME	R-HSA-168898
Toll Like Receptor 10 (TLR10) Cascade	REACTOME	R-HSA-168142
MyD88 cascade initiated on plasma membrane	REACTOME	R-HSA-975871
IRAK1 recruits IKK complex	REACTOME	R-HSA-937039
TAK1 activates NFkB by phosphorylation and activation of IKKs complex	REACTOME	R-HSA-445989
MAP kinase activation in TLR cascade	REACTOME	R-HSA-450294
JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1	REACTOME	R-HSA-450321
activated TAK1 mediates p38 MAPK activation	REACTOME	R-HSA-450302
Toll Like Receptor 3 (TLR3) Cascade	REACTOME	R-HSA-168164
MyD88-independent TLR3/TLR4 cascade	REACTOME	R-HSA-166166
TRIF-mediated TLR3/TLR4 signaling	REACTOME	R-HSA-937061
IKK complex recruitment mediated by RIP1	REACTOME	R-HSA-937041
Toll Like Receptor 5 (TLR5) Cascade	REACTOME	R-HSA-168176
Toll Like Receptor 7/8 (TLR7/8) Cascade	REACTOME	R-HSA-168181
MyD88 dependent cascade initiated on endosome	REACTOME	R-HSA-975155
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation	REACTOME	R-HSA-975138
IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation	REACTOME	R-HSA-975144
Toll Like Receptor 9 (TLR9) Cascade	REACTOME	R-HSA-168138
Toll Like Receptor 4 (TLR4) Cascade	REACTOME	R-HSA-166016
Activated TLR4 signalling	REACTOME	R-HSA-166054
MyD88:Mal cascade initiated on plasma membrane	REACTOME	R-HSA-166058
Toll Like Receptor 2 (TLR2) Cascade	REACTOME	R-HSA-181438
Toll Like Receptor TLR1:TLR2 Cascade	REACTOME	R-HSA-168179
Toll Like Receptor TLR6:TLR2 Cascade	REACTOME	R-HSA-168188
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways	REACTOME	R-HSA-168643
NOD1/2 Signaling Pathway	REACTOME	R-HSA-168638
RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways	REACTOME	R-HSA-168928
NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10	REACTOME	R-HSA-933543
TRAF6 mediated NF-kB activation	REACTOME	R-HSA-933542
Cytosolic sensors of pathogen-associated DNA	REACTOME	R-HSA-1834949
ZBP1(DAI) mediated induction of type I IFNs	REACTOME	R-HSA-1606322
RIP-mediated NFkB activation via ZBP1	REACTOME	R-HSA-1810476
Fc epsilon receptor (FCERI) signaling	REACTOME	R-HSA-2454202
FCERI mediated NF-kB activation	REACTOME	R-HSA-2871837
C-type lectin receptors (CLRs)	REACTOME	R-HSA-5621481
CLEC7A (Dectin-1) signaling	REACTOME	R-HSA-5607764
Cytokine Signaling in Immune system	REACTOME	R-HSA-1280215
Signaling by Interleukins	REACTOME	R-HSA-449147
Interleukin-1 signaling	REACTOME	R-HSA-446652
Signal Transduction	REACTOME	R-HSA-162582
Death Receptor Signalling	REACTOME	R-HSA-73887
TNF signaling	REACTOME	R-HSA-75893
TNFR1-induced NFkappaB signaling pathway	REACTOME	R-HSA-5357956
Regulation of TNFR1 signaling	REACTOME	R-HSA-5357905
MAP3K8 (TPL2)-dependent MAPK1/3 activation	REACTOME	R-HSA-5684264
Deubiquitination	REACTOME	R-HSA-5688426
Ub-specific processing proteases	REACTOME	R-HSA-5689880
Ovarian tumor domain proteases	REACTOME	R-HSA-5689896
Antifolate resistance	KEGG	ko01523
Antifolate resistance	KEGG	hsa01523
Th1 and Th2 cell differentiation	KEGG	ko04658
Th1 and Th2 cell differentiation	KEGG	hsa04658
Th17 cell differentiation	KEGG	ko04659
Th17 cell differentiation	KEGG	hsa04659
IL-17 signaling pathway	KEGG	ko04657
Fluid shear stress and atherosclerosis	KEGG	ko05418
IL-17 signaling pathway	KEGG	hsa04657
Fluid shear stress and atherosclerosis	KEGG	hsa05418

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD
PA165111697	artesunate	Chemical	ClinicalAnnotation	associated	PD
PA451103	primaquine	Chemical	ClinicalAnnotation	associated	PD
PA451193	pyrimethamine	Chemical	ClinicalAnnotation	associated	PD
PA451540	sulfadoxine	Chemical	ClinicalAnnotation	associated	PD

References

Pubmed ID	Year	Title	Citations
38505605	2024	Dual regulation of NEMO by Nrf2 and miR-125a inhibits ferroptosis and protects liver from endoplasmic reticulum stress-induced injury.	0
38536952	2024	Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene.	0
38505605	2024	Dual regulation of NEMO by Nrf2 and miR-125a inhibits ferroptosis and protects liver from endoplasmic reticulum stress-induced injury.	0
38536952	2024	Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene.	0
36181338	2023	TREM-1 induces pyroptosis in cardiomyocytes by activating NLRP3 inflammasome through the SMC4/NEMO pathway.	5
36894068	2023	SARS-CoV-2 ORF3a positively regulates NF-κB activity by enhancing IKKβ-NEMO interaction.	5
37683611	2023	Damaged mitochondria recruit the effector NEMO to activate NF-κB signaling.	7
37890781	2023	A conserved core region of the scaffold NEMO is essential for signal-induced conformational change and liquid-liquid phase separation.	0
36181338	2023	TREM-1 induces pyroptosis in cardiomyocytes by activating NLRP3 inflammasome through the SMC4/NEMO pathway.	5
36894068	2023	SARS-CoV-2 ORF3a positively regulates NF-κB activity by enhancing IKKβ-NEMO interaction.	5
37683611	2023	Damaged mitochondria recruit the effector NEMO to activate NF-κB signaling.	7
37890781	2023	A conserved core region of the scaffold NEMO is essential for signal-induced conformational change and liquid-liquid phase separation.	0
34763226	2022	Fluoride induced down-regulation of IKBKG Gene expression inhibits hepatocytes senescence.	1
35163099	2022	Human Genetic Diseases Linked to the Absence of NEMO: An Obligatory Somatic Mosaic Disorder in Male.	3
35289316	2022	Genetically 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/ikbkg-(inhibitor-of-nuclear-factor-kappa-b-kinase-regulatory-subunit-gamma)