IKBKB (inhibitor of nuclear factor kappa B kinase subunit beta)

Gene

• Entrez ID: 3551
• Gene name: Inhibitor of nuclear factor kappa B kinase subunit beta
• Gene symbol: IKBKB
• Synonyms (NCBI Gene): IKK-2, IKK-beta, IKK2, IKKB, IMD15, IMD15A, IMD15B, NFKBIKB
• Disease Acronyms (UniProt): IMD15A, IMD15B
• Chromosome: 8
• Chromosome location: 8p11.21
• Summary: 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 variant

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs200296680	C>T	Pathogenic	Stop gained, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs886041036	->G	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1563340753	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant, 5 prime UTR variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003828	hsa-miR-199a-5p	Reporter assay, Western blot	18408758
MIRT003828	hsa-miR-199a-5p	GFP reporter assay, Luciferase reporter assay, qRT-PCR	18408758
MIRT003828	hsa-miR-199a-5p	GFP reporter assay, Luciferase reporter assay, qRT-PCR	18408758
MIRT003828	hsa-miR-199a-5p	GFP reporter assay, Luciferase reporter assay, qRT-PCR	18408758
MIRT003828	hsa-miR-199a-5p	Luciferase reporter assay	18408758
MIRT004030	hsa-miR-218-5p	Luciferase reporter assay, qRT-PCR, Western blot	20933503
MIRT004030	hsa-miR-218-5p	Luciferase reporter assay, qRT-PCR, Western blot	20933503
MIRT004030	hsa-miR-218-5p	Luciferase reporter assay, qRT-PCR, Western blot	20933503
MIRT004030	hsa-miR-218-5p	Luciferase reporter assay, qRT-PCR, Western blot	20933503
MIRT006884	hsa-miR-200c-3p	Luciferase reporter assay, Western blot	22569286
MIRT018148	hsa-miR-335-5p	Microarray	18185580
MIRT043610	hsa-miR-151a-3p	CLASH	23622248
MIRT054428	hsa-miR-503-5p	Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	24550137
MIRT438803	hsa-miR-451a	5.0	23740840
MIRT438803	hsa-miR-451a	5.0	23740840
MIRT006884	hsa-miR-200c-3p	Luciferase reporter assay	24755559
MIRT006884	hsa-miR-200c-3p	Luciferase reporter assay	24755559
MIRT438803	hsa-miR-451a	5.0	23740840
MIRT438803	hsa-miR-451a	5.0	23740840
MIRT006884	hsa-miR-200c-3p	Luciferase reporter assay	24755559
MIRT006884	hsa-miR-200c-3p	Luciferase reporter assay	24755559
MIRT732818	hsa-miR-214-3p	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blotting	33714889
MIRT1062986	hsa-miR-129-3p	CLIP-seq
MIRT1062987	hsa-miR-938	CLIP-seq
MIRT1062988	hsa-miR-1185	CLIP-seq
MIRT1062989	hsa-miR-1323	CLIP-seq
MIRT1062990	hsa-miR-2392	CLIP-seq
MIRT1062991	hsa-miR-3065-5p	CLIP-seq
MIRT1062992	hsa-miR-3125	CLIP-seq
MIRT1062993	hsa-miR-3605-5p	CLIP-seq
MIRT1062994	hsa-miR-3622a-3p	CLIP-seq
MIRT1062995	hsa-miR-3622b-3p	CLIP-seq
MIRT1062996	hsa-miR-3675-5p	CLIP-seq
MIRT1062997	hsa-miR-3679-5p	CLIP-seq
MIRT1062998	hsa-miR-3916	CLIP-seq
MIRT1062999	hsa-miR-4640-5p	CLIP-seq
MIRT1063000	hsa-miR-4726-5p	CLIP-seq
MIRT1063001	hsa-miR-4755-3p	CLIP-seq
MIRT1063002	hsa-miR-515-5p	CLIP-seq
MIRT1063003	hsa-miR-548o	CLIP-seq
MIRT1063004	hsa-miR-942	CLIP-seq
MIRT1063005	hsa-miR-106a	CLIP-seq
MIRT1063006	hsa-miR-106b	CLIP-seq
MIRT1063007	hsa-miR-1229	CLIP-seq
MIRT1063008	hsa-miR-17	CLIP-seq
MIRT1063009	hsa-miR-20a	CLIP-seq
MIRT1063010	hsa-miR-20b	CLIP-seq
MIRT1063011	hsa-miR-2116	CLIP-seq
MIRT1063012	hsa-miR-3120-5p	CLIP-seq
MIRT1063013	hsa-miR-3145-5p	CLIP-seq
MIRT1063014	hsa-miR-3607-3p	CLIP-seq
MIRT1063015	hsa-miR-3609	CLIP-seq
MIRT1063016	hsa-miR-3648	CLIP-seq
MIRT1063017	hsa-miR-3941	CLIP-seq
MIRT1063018	hsa-miR-4255	CLIP-seq
MIRT1063019	hsa-miR-4266	CLIP-seq
MIRT1063020	hsa-miR-4323	CLIP-seq
MIRT1063021	hsa-miR-4434	CLIP-seq
MIRT1063022	hsa-miR-4514	CLIP-seq
MIRT1063023	hsa-miR-4516	CLIP-seq
MIRT1063024	hsa-miR-4645-5p	CLIP-seq
MIRT1063025	hsa-miR-466	CLIP-seq
MIRT1063026	hsa-miR-4672	CLIP-seq
MIRT1063027	hsa-miR-4673	CLIP-seq
MIRT1063028	hsa-miR-4677-5p	CLIP-seq
MIRT1063029	hsa-miR-4692	CLIP-seq
MIRT1063030	hsa-miR-4731-3p	CLIP-seq
MIRT1063001	hsa-miR-4755-3p	CLIP-seq
MIRT1063031	hsa-miR-4758-3p	CLIP-seq
MIRT1063032	hsa-miR-4796-3p	CLIP-seq
MIRT1063033	hsa-miR-4801	CLIP-seq
MIRT1063034	hsa-miR-508-5p	CLIP-seq
MIRT1063035	hsa-miR-519d	CLIP-seq
MIRT1063036	hsa-miR-548ah	CLIP-seq
MIRT1063037	hsa-miR-548g	CLIP-seq
MIRT1063038	hsa-miR-600	CLIP-seq
MIRT1063039	hsa-miR-651	CLIP-seq
MIRT1063040	hsa-miR-93	CLIP-seq
MIRT1063005	hsa-miR-106a	CLIP-seq
MIRT1063006	hsa-miR-106b	CLIP-seq
MIRT1063041	hsa-miR-1270	CLIP-seq
MIRT1063008	hsa-miR-17	CLIP-seq
MIRT1063042	hsa-miR-185	CLIP-seq
MIRT1063009	hsa-miR-20a	CLIP-seq
MIRT1063010	hsa-miR-20b	CLIP-seq
MIRT1063043	hsa-miR-2278	CLIP-seq
MIRT1063014	hsa-miR-3607-3p	CLIP-seq
MIRT1063015	hsa-miR-3609	CLIP-seq
MIRT1063044	hsa-miR-3918	CLIP-seq
MIRT1063045	hsa-miR-3973	CLIP-seq
MIRT1063046	hsa-miR-4270	CLIP-seq
MIRT1063047	hsa-miR-4306	CLIP-seq
MIRT1063048	hsa-miR-4438	CLIP-seq
MIRT1063049	hsa-miR-4441	CLIP-seq
MIRT1063050	hsa-miR-4512	CLIP-seq
MIRT1063051	hsa-miR-4531	CLIP-seq
MIRT1063052	hsa-miR-4644	CLIP-seq
MIRT1063053	hsa-miR-4722-5p	CLIP-seq
MIRT1063030	hsa-miR-4731-3p	CLIP-seq
MIRT1063054	hsa-miR-4768-3p	CLIP-seq
MIRT1063032	hsa-miR-4796-3p	CLIP-seq
MIRT1063033	hsa-miR-4801	CLIP-seq
MIRT1063035	hsa-miR-519d	CLIP-seq
MIRT1063055	hsa-miR-548ac	CLIP-seq
MIRT1063056	hsa-miR-548ae	CLIP-seq
MIRT1063036	hsa-miR-548ah	CLIP-seq
MIRT1063057	hsa-miR-548aj	CLIP-seq
MIRT1063058	hsa-miR-548am	CLIP-seq
MIRT1063059	hsa-miR-548d-3p	CLIP-seq
MIRT1063060	hsa-miR-548x	CLIP-seq
MIRT1063061	hsa-miR-548z	CLIP-seq
MIRT1063062	hsa-miR-583	CLIP-seq
MIRT1063063	hsa-miR-590-3p	CLIP-seq
MIRT1063064	hsa-miR-620	CLIP-seq
MIRT1063040	hsa-miR-93	CLIP-seq
MIRT2014892	hsa-miR-22	CLIP-seq
MIRT2014893	hsa-miR-2467-3p	CLIP-seq
MIRT2014894	hsa-miR-28-5p	CLIP-seq
MIRT1062992	hsa-miR-3125	CLIP-seq
MIRT2014895	hsa-miR-3139	CLIP-seq
MIRT1062998	hsa-miR-3916	CLIP-seq
MIRT2014896	hsa-miR-4476	CLIP-seq
MIRT2014897	hsa-miR-4533	CLIP-seq
MIRT1062999	hsa-miR-4640-5p	CLIP-seq
MIRT2014898	hsa-miR-4659a-5p	CLIP-seq
MIRT2014899	hsa-miR-4659b-5p	CLIP-seq
MIRT1063000	hsa-miR-4726-5p	CLIP-seq
MIRT2014900	hsa-miR-4769-3p	CLIP-seq
MIRT2014901	hsa-miR-558	CLIP-seq
MIRT2014902	hsa-miR-708	CLIP-seq
MIRT2247171	hsa-miR-103a	CLIP-seq
MIRT2247172	hsa-miR-107	CLIP-seq
MIRT2247173	hsa-miR-146b-3p	CLIP-seq
MIRT2247174	hsa-miR-148a	CLIP-seq
MIRT2247175	hsa-miR-148b	CLIP-seq
MIRT2247176	hsa-miR-152	CLIP-seq
MIRT2247177	hsa-miR-15a	CLIP-seq
MIRT2247178	hsa-miR-15b	CLIP-seq
MIRT2247179	hsa-miR-16	CLIP-seq
MIRT2247180	hsa-miR-1825	CLIP-seq
MIRT2247181	hsa-miR-1913	CLIP-seq
MIRT2247182	hsa-miR-195	CLIP-seq
MIRT2247183	hsa-miR-199b-5p	CLIP-seq
MIRT2247184	hsa-miR-214	CLIP-seq
MIRT1062992	hsa-miR-3125	CLIP-seq
MIRT2247185	hsa-miR-3166	CLIP-seq
MIRT2247186	hsa-miR-3173-5p	CLIP-seq
MIRT2247187	hsa-miR-3195	CLIP-seq
MIRT2247188	hsa-miR-324-3p	CLIP-seq
MIRT2247189	hsa-miR-331-3p	CLIP-seq
MIRT2247190	hsa-miR-34a	CLIP-seq
MIRT2247191	hsa-miR-34c-5p	CLIP-seq
MIRT2247192	hsa-miR-3607-5p	CLIP-seq
MIRT2247193	hsa-miR-3619-5p	CLIP-seq
MIRT2247194	hsa-miR-371b-3p	CLIP-seq
MIRT2247195	hsa-miR-3914	CLIP-seq
MIRT1062998	hsa-miR-3916	CLIP-seq
MIRT2247196	hsa-miR-3917	CLIP-seq
MIRT2247197	hsa-miR-3925-3p	CLIP-seq
MIRT2247198	hsa-miR-3944-5p	CLIP-seq
MIRT2247199	hsa-miR-423-3p	CLIP-seq
MIRT2247200	hsa-miR-424	CLIP-seq
MIRT2247201	hsa-miR-4292	CLIP-seq
MIRT2247202	hsa-miR-4302	CLIP-seq
MIRT1063048	hsa-miR-4438	CLIP-seq
MIRT2247203	hsa-miR-449a	CLIP-seq
MIRT2247204	hsa-miR-449b	CLIP-seq
MIRT2247205	hsa-miR-4519	CLIP-seq
MIRT2247206	hsa-miR-4522	CLIP-seq
MIRT2247207	hsa-miR-4524	CLIP-seq
MIRT2247208	hsa-miR-4529-5p	CLIP-seq
MIRT1062999	hsa-miR-4640-5p	CLIP-seq
MIRT2247209	hsa-miR-4677-3p	CLIP-seq
MIRT2247210	hsa-miR-4707-5p	CLIP-seq
MIRT1063000	hsa-miR-4726-5p	CLIP-seq
MIRT2247211	hsa-miR-4751	CLIP-seq
MIRT2247212	hsa-miR-4766-5p	CLIP-seq
MIRT2247213	hsa-miR-4771	CLIP-seq
MIRT2247214	hsa-miR-4802-5p	CLIP-seq
MIRT2247215	hsa-miR-497	CLIP-seq
MIRT2247216	hsa-miR-503	CLIP-seq
MIRT2247217	hsa-miR-518e	CLIP-seq
MIRT2247218	hsa-miR-524-3p	CLIP-seq
MIRT2247219	hsa-miR-525-3p	CLIP-seq
MIRT1063063	hsa-miR-590-3p	CLIP-seq
MIRT2247220	hsa-miR-646	CLIP-seq
MIRT2247221	hsa-miR-648	CLIP-seq
MIRT2247222	hsa-miR-761	CLIP-seq
MIRT2247223	hsa-miR-765	CLIP-seq
MIRT2247224	hsa-miR-873	CLIP-seq
MIRT2247225	hsa-miR-874	CLIP-seq
MIRT1063024	hsa-miR-4645-5p	CLIP-seq
MIRT1063027	hsa-miR-4673	CLIP-seq
MIRT2451668	hsa-miR-1234	CLIP-seq
MIRT2451669	hsa-miR-3189-5p	CLIP-seq
MIRT1063020	hsa-miR-4323	CLIP-seq
MIRT1063022	hsa-miR-4514	CLIP-seq
MIRT1063024	hsa-miR-4645-5p	CLIP-seq
MIRT1063027	hsa-miR-4673	CLIP-seq
MIRT1063029	hsa-miR-4692	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002223	Process	Stimulatory C-type lectin receptor signaling pathway	TAS
GO:0002479	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS
GO:0002756	Process	MyD88-independent toll-like receptor signaling pathway	TAS
GO:0004672	Function	Protein kinase activity	IDA	20434986
GO:0004674	Function	Protein serine/threonine kinase activity	EXP	18692471, 23613522
GO:0004674	Function	Protein serine/threonine kinase activity	IBA	21873635
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	15084260, 25326418, 25636800
GO:0004674	Function	Protein serine/threonine kinase activity	TAS
GO:0005515	Function	Protein binding	IPI	9520446, 9751060, 10521409, 10733566, 11297557, 11971985, 12482991, 12486103, 12842894, 14743216, 15084260, 15389287, 15601829, 15749833, 16126728, 16129692, 16286467, 16319058, 16365431, 16938294, 17568778, 17693255, 17939994, 18198944, 18266467, 18462684, 18930133, 19196987, 19345
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006468	Process	Protein phosphorylation	IDA	15084260, 20434986
GO:0006468	Process	Protein phosphorylation	NAS	9346484
GO:0006954	Process	Inflammatory response	TAS	18626576
GO:0007249	Process	I-kappaB kinase/NF-kappaB signaling	IMP	15383541, 25816133
GO:0007249	Process	I-kappaB kinase/NF-kappaB signaling	TAS	18626576
GO:0007252	Process	I-kappaB phosphorylation	IEA
GO:0008384	Function	IkappaB kinase activity	IBA	21873635
GO:0008384	Function	IkappaB kinase activity	TAS	18626576
GO:0008385	Component	IkappaB kinase complex	IBA	21873635
GO:0008385	Component	IkappaB kinase complex	TAS	18626576
GO:0009615	Process	Response to virus	TAS	18626576
GO:0009898	Component	Cytoplasmic side of plasma membrane	ISS
GO:0010803	Process	Regulation of tumor necrosis factor-mediated signaling pathway	TAS
GO:0016032	Process	Viral process	IEA
GO:0018105	Process	Peptidyl-serine phosphorylation	IBA	21873635
GO:0018105	Process	Peptidyl-serine phosphorylation	IDA	21399639, 25326418
GO:0019901	Function	Protein kinase binding	IPI	12492477
GO:0030866	Process	Cortical actin cytoskeleton organization	IMP	25816133
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IBA	21873635
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IMP	15084260, 25816133
GO:0035509	Process	Negative regulation of myosin-light-chain-phosphatase activity	IMP	25816133
GO:0035631	Component	CD40 receptor complex	ISS
GO:0035666	Process	TRIF-dependent toll-like receptor signaling pathway	TAS
GO:0038095	Process	Fc-epsilon receptor signaling pathway	TAS
GO:0042325	Process	Regulation of phosphorylation	IDA	26212789
GO:0042802	Function	Identical protein binding	IPI	16319058, 21423167, 23776406
GO:0042803	Function	Protein homodimerization activity	IDA	23091055
GO:0043066	Process	Negative regulation of apoptotic process	TAS
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	IMP	30337470
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	TAS
GO:0045087	Process	Innate immune response	TAS	18626576
GO:0045121	Component	Membrane raft	IEA
GO:0045893	Process	Positive regulation of transcription, DNA-templated	NAS	9346484, 9346485, 9813230
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	23091055, 23453807
GO:0046982	Function	Protein heterodimerization activity	IDA	23091055
GO:0050852	Process	T cell receptor signaling pathway	TAS
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IBA	21873635
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IDA	15790681
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	TAS	18626576
GO:0051403	Process	Stress-activated MAPK cascade	TAS
GO:0070498	Process	Interleukin-1-mediated signaling pathway	IMP	25816133
GO:0070498	Process	Interleukin-1-mediated signaling pathway	TAS
GO:0071356	Process	Cellular response to tumor necrosis factor	IDA	23091055
GO:0072659	Process	Protein localization to plasma membrane	IMP	25816133
GO:0097110	Function	Scaffold protein binding	IDA	23776175
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0106311	Function	Protein threonine kinase activity	IEA
GO:1903140	Process	Regulation of establishment of endothelial barrier	IMP	25816133
GO:1903347	Process	Negative regulation of bicellular tight junction assembly	IMP	25816133
GO:1990459	Function	Transferrin receptor binding	IPI	23016877

Other IDs

• MIM: 603258
• HGNC: 5960
• e!Ensembl: ENSG00000104365

Protein

• UniProt ID: O14920
• Protein name: Inhibitor of nuclear factor kappa-B kinase subunit beta (I-kappa-B-kinase beta) (IKK-B) (IKK-beta) (IkBKB) (EC 2.7.11.10) (I-kappa-B kinase 2) (IKK-2) (IKK2) (Nuclear factor NF-kappa-B inhibitor kinase beta) (NFKBIKB) (Serine/threonine protein kinase IKBK
• Protein 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:20434986, PubMed:20
• PDB: 3BRT, 3BRV, 4E3C, 4KIK, 8OMV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	15 → 297	Protein kinase domain	Domain
  PF18397	IKBKB_SDD	389 → 663	IQBAL scaffold dimerization domain	Domain
  PF12179	IKKbetaNEMObind	706 → 742	I-kappa-kinase-beta NEMO binding domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in heart, placenta, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis and peripheral blood.
• Sequence:

  MSWSPSLTTQTCGAWEMKERLGTGGFGNVIRWHNQETGEQIAIKQCRQELSPRNRERWCL
  EIQIMRRLTHPNVVAARDVPEGMQNLAPNDLPLLAMEYCQGGDLRKYLNQFENCCGLREG
  AILTLLSDIASALRYLHENRIIHRDLKPENIVLQQGEQRLIHKIIDLGYAKELDQGSLCT
  SFVGTLQYLAPELLEQQKYTVTVDYWSFGTLAFECITGFRPFLPNWQPVQWHSKVRQKSE
  VDIVVSEDLNGTVKFSSSLPYPNNLNSVLAERLEKWLQLMLMWHPRQRGTDPTYGPNGCF
  KALDDILNLKLVHILNMVTGTIHTYPVTEDESLQSLKARIQQDTGIPEEDQELLQEAGLA
  LIPDKPATQCISDGKLNEGHTLDMDLVFLFDNSKITYETQISPRPQPESVSCILQEPKRN
  LAFFQLRKVWGQVWHSIQTLKEDCNRLQQGQRAAMMNLLRNNSCLSKMKNSMASMSQQLK
  AKLDFFKTSIQIDLEKYSEQTEFGITSDKLLLAWREMEQAVELCGRENEVKLLVERMMAL
  QTDIVDLQRSPMGRKQGGTLDDLEEQARELYRRLREKPRDQRTEGDSQEMVRLLLQAIQS
  FEKKVRVIYTQLSKTVVCKQKALELLPKVEEVVSLMNEDEKTVVRLQEKRQKELWNLLKI
  ACSKVRGPVSGSPDSMNASRLSQPGQLMSQPSTASNSLPEPAKKSEELVAEAHNLCTLLE
  NAIQDTVREQDQSFTALDWSWLQTEEEEHSCLEQAS

• Sequence length: 756

Pathways

KEGG:

Antifolate resistance
MAPK signaling pathway
Ras signaling pathway
Chemokine signaling pathway
NF-kappa B signaling pathway
FoxO signaling pathway
mTOR signaling pathway
PI3K-Akt signaling pathway
Apoptosis
Osteoclast differentiation
Toll-like receptor signaling pathway
NOD-like receptor signaling pathway
RIG-I-like receptor signaling pathway
Cytosolic DNA-sensing pathway
C-type lectin receptor signaling pathway
IL-17 signaling pathway
Th1 and Th2 cell differentiation
Th17 cell differentiation
T cell receptor signaling pathway
B cell receptor signaling pathway
TNF signaling pathway
Neurotrophin signaling pathway
Insulin signaling pathway
Adipocytokine signaling pathway
Type II diabetes mellitus
Insulin resistance
Non-alcoholic fatty liver disease
Alcoholic liver disease
Alzheimer disease
Epithelial cell signaling in Helicobacter pylori infection
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
Yersinia infection
Chagas disease
Toxoplasmosis
Hepatitis C
Hepatitis B
Measles
Human cytomegalovirus infection
Influenza A
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Coronavirus disease - COVID-19
Pathways in cancer
MicroRNAs in cancer
Chemical carcinogenesis - reactive oxygen species
Pancreatic cancer
Prostate cancer
Chronic myeloid leukemia
Acute myeloid leukemia
Small cell lung cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer
Lipid and atherosclerosis
Fluid shear stress and atherosclerosis

Reactome:

Activation of NF-kappaB in B cells
ER-Phagosome pathway
NOD1/2 Signaling Pathway
TICAM1, RIP1-mediated IKK complex recruitment
RIP-mediated NFkB activation via ZBP1
Downstream TCR signaling
p75NTR recruits signalling complexes
NF-kB is activated and signals survival
FCERI mediated NF-kB activation
TAK1 activates NFkB by phosphorylation and activation of IKKs complex
Regulation of TNFR1 signaling
TNFR1-induced NFkappaB signaling pathway
IKBKB deficiency causes SCID
IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR)
IkBA variant leads to EDA-ID
CLEC7A (Dectin-1) signaling
MAP3K8 (TPL2)-dependent MAPK1/3 activation
Interleukin-1 signaling
TRAF6 mediated NF-kB activation
NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
IRAK1 recruits IKK complex
IKK complex recruitment mediated by RIP1
IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Agammaglobulinemia	Agammaglobulinemia	rs2134166251, rs128620183, rs128620185, rs128621193, rs128621201, rs128621204, rs121912424, rs267606711, rs376256147, rs281865422, rs1600631593, rs1555843601, rs267606871, rs879255271, rs2142904392, rs1555976766, rs1555977461, rs1555977580, rs1555977592, rs1555977598, rs1555978024, rs1555978197, rs1555978277, rs1555978891, rs1555980049, rs1555980799, rs1555980866, rs1554906579, rs1568801716, rs1565638431, rs2095906547, rs2095906404
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Hyperbilirubinemia	Hyperbilirubinemia, Neonatal, Indirect Hyperbilirubinemia, Neonatal	rs34993780, rs587784535, rs797046090, rs797046091	28167773
Hypertension	Hypertensive disease	rs13306026	27659729
Immunodeficiency	IMMUNODEFICIENCY 15B, IMMUNODEFICIENCY 15A	rs1565678077, rs121908002, rs1421444086, rs1565688667, rs944235493, rs121918314, rs587776713, rs137852678, rs587776714, rs128620188, rs2147483647, rs1569556522, rs137853331, rs137853332, rs179363866, rs483352928, rs121918659, rs111033580, rs111033581, rs74315290, rs193922740, rs193922741, rs104894199, rs483352927, rs104894286, rs1571865049, rs886041032, rs2069709, rs587776822, rs74315444, rs587776823, rs1315265916, rs104893893, rs104893894, rs121434560, rs387906572, rs587776853, rs104893973, rs587776854, rs587776855, rs587776857, rs104893974, rs121912715, rs1393707607, rs113994136, rs387906593, rs587776870, rs387906763, rs387906913, rs199469663, rs199469662, rs199469664, rs193922640, rs193922641, rs193922645, rs398122890, rs387907316, rs397514710, rs398122383, rs397515453, rs397514332, rs398123058, rs397518423, rs587777075, rs199676861, rs77563738, rs587777337, rs28730670, rs587777389, rs587777390, rs587777413, rs587777414, rs587777415, rs587777416, rs267608260, rs267608261, rs587778405, rs587777446, rs587777562, rs587777564, rs587777565, rs869320745, rs587777709, rs606231305, rs672601318, rs727503779, rs727503780, rs730880296, rs786200953, rs375323253, rs794729666, rs886041037, rs886041038, rs796051887, rs796051888, rs749956849, rs199641706, rs775739391, rs869312886, rs869312857, rs879253731, rs879253732, rs201025290, rs770927552, rs878853275, rs878853276, rs878853277, rs878853278, rs1567506566, rs886037920, rs886037921, rs750610248, rs200044623, rs886043118, rs886060531, rs1057519074, rs1057519075, rs1057518744, rs1057519079, rs1057518745, rs1057518746, rs1057518747, rs782178147, rs55729925, rs1064795762, rs1064794957, rs1085307649, rs745463649, rs773694113, rs1192554889, rs779575307, rs1554051075, rs1554051067, rs1554051033, rs1554067182, rs1555167566, rs1555169270, rs1555908409, rs1555719963, rs1404084330, rs144104577, rs1553238837, rs1553243550, rs1554020278, rs1554066684, rs762678772, rs570768621, rs1443126481, rs1553721236, rs121434258, rs888230251, rs1759915032, rs1759514836, rs138156467, rs1560914625, rs755373718, rs1561423197, rs1560938296, rs200803157, rs766555082, rs201543770, rs114951157, rs775578531, rs201128237, rs778624945, rs1563340753, rs1561772403, rs1484948342, rs777878144, rs1562364898, rs1561254290, rs1569296295, rs1568815169, rs1568822574, rs1571880832, rs934523851, rs1922072844, rs1266114717, rs137869655, rs869320689, rs1571880941, rs1580875488, rs1581303476, rs1448018291, rs1390410878, rs774803573, rs1591278347, rs1602300615, rs1601340933, rs757598952, rs1181595292, rs1408683294, rs1595843113, rs1595848141, rs779560450, rs1595816926, rs1581401865, rs1236009877, rs753213766, rs778993919, rs1602878106, rs141698985, rs1264504989, rs1580974401, rs2093571190, rs530286781, rs2086875746, rs2089298923, rs1206185362, rs1581573705, rs1596718225, rs1004337827, rs1573613529, rs1574636674, rs1574657735, rs1574657762, rs1574672718, rs1581573640, rs1553657429, rs200666300, rs1578735747, rs1578771211, rs1578793312, rs1578795536, rs1578809101, rs1578811073, rs1578811245, rs1171694504, rs1578971328, rs140800288, rs374333820, rs1584926133, rs1585040113, rs1584409386, rs1379376784, rs1586940273, rs1587143342, rs748910652, rs1592117677, rs758555433, rs1596712783, rs34019455, rs147766868, rs751386365, rs1600631294, rs1489114116, rs1057520578, rs1603007888, rs1603008329, rs1574450161, rs1578735709, rs1403833564, rs1580262965, rs570910902, rs1589866171, rs1578999313, rs1582635229, rs1582637044, rs1580851910, rs1750760771, rs745453685, rs1249197356, rs201840561, rs1940921909, rs1941410085, rs1941465194, rs1321690789, rs1302362911, rs1730552437, rs2052705192, rs1941856970	24369075, 25216719, 30337470
Non-hodgkin lymphoma	Lymphoma, Non-Hodgkin	rs121908689, rs28936699, rs121909775, rs398122800, rs121913357, rs121913355, rs398122820
Severe combined immunodeficiency disease	Combined immunodeficiency, Severe combined immunodeficiency due to IKK2 deficiency	rs886037607, rs118203993, rs121908714, rs121908739, rs121908740, rs121908735, rs121908721, rs121908722, rs121908156, rs1564414523, rs1564418254, rs1564446526, rs786205074, rs121908157, rs121908159, rs786200884, rs397515357, rs104894562, rs137852624, rs137852625, rs137852626, rs137852627, rs137852507, rs137852509, rs111033619, rs111033620, rs1569480018, rs111033621, rs137852510, rs587776729, rs111033622, rs111033617, rs111033618, rs121917894, rs121917896, rs2133313409, rs121917897, rs28933392, rs104894282, rs104894283, rs104894285, rs121918570, rs121918572, rs730880318, rs104893674, rs730880319, rs104894453, rs104894454, rs104894451, rs137853206, rs777503956, rs267606645, rs267606648, rs397515390, rs193922346, rs193922347, rs193922348, rs193922349, rs193922350, rs137852508, rs193922640, rs193922641, rs193922643, rs193922645, rs193922361, rs193922364, rs193922464, rs148508754, rs193922574, rs113994174, rs606231246, rs397514671, rs397514686, rs397514755, rs199474679, rs199474685, rs199474686, rs199474681, rs150739647, rs267605358, rs886041036, rs587777335, rs587778405, rs145092287, rs587777562, rs606231256, rs200296680, rs786205456, rs786205517, rs774202259, rs786205615, rs878853261, rs786205890, rs782753385, rs746052951, rs869025224, rs869312857, rs869320660, rs869320659, rs869320658, rs879253742, rs886037924, rs886037925, rs750610248, rs886039394, rs761242509, rs886039387, rs886041043, rs886041044, rs886042051, rs886041333, rs749481781, rs1057517747, rs1057519506, rs1057523762, rs1057521062, rs1057520644, rs761583890, rs751635016, rs55729925, rs1064793248, rs1064793347, rs1064794027, rs781410769, rs1555524788, rs1486760100, rs769633203, rs1556330713, rs1555322558, rs1556330234, rs1556330755, rs1556329779, rs1556330552, rs1556329822, rs1556330286, rs1556331272, rs2146178281, rs376610445, rs757797994, rs775704953, rs1555743321, rs1564995660, rs1564995662, rs1556330249, rs144104577, rs886041796, rs1026474882, rs570768621, rs1556330562, rs1556330568, rs780014431, rs778343059, rs1555844617, rs1567629968, rs1567628757, rs1567629943, rs1567632864, rs1567632829, rs1567626023, rs1559328006, rs1561423197, rs1452483770, rs1568400897, rs1569479913, rs1568404443, rs1569480047, rs1563340753, rs368303189, rs1568431262, rs1568431102, rs1561424886, rs1602289943, rs1241698978, rs1569479994, rs1569480082, rs1602289649, rs1573261820, rs770985198, rs1589050343, rs1340132582, rs1589064324, rs1589070600, rs1213680890, rs149316157, rs1599873591, rs755706305, rs1602288051, rs1602289411, rs1602289183, rs1583513256, rs1589136659, rs1380154594, rs1011307501, rs1599876167, rs1569967422, rs1602289631, rs1573262398, rs760191638, rs1592117677, rs1640406042, rs372597855, rs1839558393, rs1839622622, rs1839957089, rs777008519, rs1233957241, rs2092261618, rs1839255008, rs1677695565, rs936493226, rs1162344514, rs991089005	25216719

Unknown
Disease term	Disease name	Evidence	References	Source
Otitis media	Otitis Media			ClinVar
Systemic lupus erythematosus	Systemic lupus erythematosus			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Acidosis Renal Tubular	Associate	33125105
Acquired Immunodeficiency Syndrome	Associate	24369075
Adenocarcinoma	Associate	18413730
Adenocarcinoma of Lung	Associate	32823550
Adrenocortical Carcinoma	Associate	33776902
Agammaglobulinemia	Inhibit	24369075
Agammaglobulinemia	Associate	30391351
AIDS Dementia Complex	Associate	32554083
Alzheimer Disease	Associate	27106634, 37418137
Arthritis Psoriatic	Associate	16622521
Arthritis Rheumatoid	Associate	12847684, 33087158
Asthma	Associate	15723090, 25905622
Atherosclerosis	Associate	15064395
Barrett Esophagus	Associate	18413730
Breast Neoplasms	Associate	17157792, 19221050, 20473280, 21575199, 22302350, 22562547, 22988968, 23178494, 24481412, 25083991, 25377085, 26433127, 26993770, 29374150, 33191115
Carcinogenesis	Associate	19893992
Carcinoma Hepatocellular	Associate	19331697, 19893992
Carcinoma Intraductal Noninfiltrating	Associate	29374150
Carcinoma Mucoepidermoid	Associate	27682876
Carcinoma Ovarian Epithelial	Associate	36799490
Carcinoma Renal Cell	Associate	23981302, 29956738
Colitis Ulcerative	Associate	15753535
Colonic Neoplasms	Associate	39337357
Colorectal Neoplasms	Associate	21129206, 23002237, 31592535, 31729423, 37157810
Colorectal Neoplasms	Inhibit	21129206
Crohn Disease	Associate	26215868, 34629811
Cystic Fibrosis	Associate	12762338
Dementia	Associate	27106634
Diabetes Mellitus	Associate	31864032, 34521919
Down Syndrome	Associate	25222269
Drug Related Side Effects and Adverse Reactions	Associate	18636537, 19509265, 24481412
Embolic Stroke	Associate	32172663
Endocrine System Diseases	Associate	28306507
Endometriosis	Associate	27542948, 32626910
Endometriosis	Stimulate	31551156
Ependymoma	Inhibit	36722216
Esophageal Squamous Cell Carcinoma	Associate	39337357
Gastrointestinal Neoplasms	Associate	39337357
Gingival Diseases	Associate	31743516
Gingival Recession	Associate	37930783
Glucose Intolerance	Associate	37572666
Glycogen Storage Disease Type IV	Stimulate	34994235
Granulosa cell tumor of the ovary	Associate	23674259
Head and Neck Neoplasms	Associate	21821700, 23455325
Hydroa Vacciniforme	Associate	32682634
Hyperplasia	Associate	35838483
Hypoxia	Stimulate	17114296
Hypoxia	Associate	35043517
Hypoxia Brain	Associate	17114296
Immune System Diseases	Associate	30391351
Immunologic Deficiency Syndromes	Associate	25139357
Infections	Associate	23871663, 28270578
Inflammation	Associate	15051615, 16267042, 18163512, 18413730, 19798070, 20627395, 21129206, 23455325, 24755559, 25063733, 25222269, 25486864, 25630970, 25905622, 26757982, 27106634, 29065968, 29212706, 30209117, 31212975, 31592535, 31849975, 33087158, 33125105, 34737366, 39910430
Insulin Resistance	Associate	18443205, 19798070, 22791168, 25627174, 26757982
Iron Overload	Stimulate	25500022
Kidney Neoplasms	Associate	23981302, 25016284
Kotzot Richter syndrome	Associate	39596634
Laryngeal Neoplasms	Associate	32791689
Leiomyoma	Associate	24755559
Leukemia Lymphocytic Chronic B Cell	Associate	39596634
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	26474455
Liver Failure	Associate	15723090
Lung Diseases	Associate	32823550
Lung Neoplasms	Associate	18636537, 28139737, 32823550
Lupus Erythematosus Systemic	Associate	22952582, 25762184, 36309313
Lymphatic Metastasis	Associate	26914121, 26993770
Lymphatic Metastasis	Stimulate	34994235, 36799490
Lymphohistiocytosis Hemophagocytic	Associate	40124362
Lymphoma	Associate	21987722, 25107905
Lymphoma Large B Cell Diffuse	Associate	11748286, 19104039, 26603838, 36191884
Lymphoma Mantle Cell	Associate	32961552
Macular Degeneration	Associate	39768951
Melanoma	Associate	35043517
Mouth Diseases	Associate	27542948
Mouth Neoplasms	Associate	35421271
Mucocutaneous Lymph Node Syndrome	Associate	40124362
Multiple Myeloma	Associate	17542984, 17692804, 19270264, 21816815, 24980832, 25107905, 25424288, 25486864
Nasopharyngeal Carcinoma	Associate	34994235
Neoplasm Metastasis	Associate	32401379
Neoplasms	Associate	18408758, 18413730, 19221050, 19509265, 20051109, 20424119, 21036922, 21795997, 23936501, 24386391, 24811176, 25486864, 25849741, 27682876, 29630899, 30177839, 30720059, 31592535, 31729423, 32823550, 32949647, 34521919, 34994235, 35476515, 35502302
Neoplasms	Inhibit	36433652
Neoplasms	Stimulate	36799490, 39337357
Nephrotic Syndrome	Stimulate	15882260
Non alcoholic Fatty Liver Disease	Associate	31864032
Obesity	Associate	19221050, 19798070, 34521919
Ovarian Neoplasms	Associate	18408758, 20424119, 24337575, 37210768
Pancreatic Neoplasms	Associate	25238288, 35476515
Papillomavirus Infections	Associate	27824003
Parkinson Disease	Associate	19137061
Periodontal Attachment Loss	Associate	37930783
Periodontitis	Associate	37930783
Precancerous Conditions	Associate	35476515
Prodromal Symptoms	Stimulate	34994235
Prostatic Neoplasms	Associate	21036922, 28278500
Purpura Thrombocytopenic Idiopathic	Associate	29327472
Rectal Neoplasms	Associate	35502302
Respiratory Sounds	Associate	25326706
Schizophrenia	Associate	35027554
Severe Combined Immunodeficiency	Associate	24369075
Shock Septic	Associate	10477696
Small Cell Lung Carcinoma	Associate	32767507
Smooth Muscle Tumor	Associate	24755559
Squamous Cell Carcinoma of Head and Neck	Associate	16818647, 21821700, 23455325, 26914121, 28386055, 30720059, 33227411, 35176168
Stomach Neoplasms	Associate	23921907, 30487159, 39337357
Tertiary Lymphoid Structures	Stimulate	39337357
Tissue Adhesions	Associate	37385390
Tuberculosis	Associate	40124362
Uterine Cervical Neoplasms	Associate	27824003, 27883176, 28545028, 32401379
Virus Diseases	Associate	27824003
X Linked Combined Immunodeficiency Diseases	Associate	25139357, 30391351