Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	3551
Gene name	Inhibitor of nuclear factor kappa B kinase subunit beta
Gene symbol	IKBKB
Synonyms (NCBI Gene)	IKK-2IKK-betaIKK2IKKBIMD15IMD15AIMD15BNFKBIKB
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

Show/Hide all (3)

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

200

Show/Hide all (200)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003828	hsa-miR-199a-5p	Reporter assayWestern blot	18408758
MIRT003828	hsa-miR-199a-5p	GFP reporter assayLuciferase reporter assayqRT-PCR	18408758
MIRT003828	hsa-miR-199a-5p	GFP reporter assayLuciferase reporter assayqRT-PCR	18408758
MIRT003828	hsa-miR-199a-5p	GFP reporter assayLuciferase reporter assayqRT-PCR	18408758
MIRT003828	hsa-miR-199a-5p	Luciferase reporter assay	18408758
MIRT004030	hsa-miR-218-5p	Luciferase reporter assayqRT-PCRWestern blot	20933503
MIRT004030	hsa-miR-218-5p	Luciferase reporter assayqRT-PCRWestern blot	20933503
MIRT004030	hsa-miR-218-5p	Luciferase reporter assayqRT-PCRWestern blot	20933503
MIRT004030	hsa-miR-218-5p	Luciferase reporter assayqRT-PCRWestern blot	20933503
MIRT006884	hsa-miR-200c-3p	Luciferase reporter assayWestern blot	22569286
MIRT018148	hsa-miR-335-5p	Microarray	18185580
MIRT043610	hsa-miR-151a-3p	CLASH	23622248
MIRT054428	hsa-miR-503-5p	ImmunohistochemistryIn situ hybridizationLuciferase reporter assayqRT-PCRWestern 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	ImmunofluorescenceLuciferase reporter assayqRT-PCRWestern 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

Show/Hide all (91)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000209	Process	Protein polyubiquitination	IDA	25860612
GO:0002221	Process	Pattern recognition receptor signaling pathway	IEA
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:0002755	Process	MyD88-dependent toll-like receptor signaling pathway	TAS
GO:0004672	Function	Protein kinase activity	IDA	20434986
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	EXP	18692471, 23613522
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	11297557, 12656673, 14673179, 15084260, 25326418, 25636800, 32209697
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	TAS
GO:0005515	Function	Protein binding	IPI	9520446, 9751060, 10521409, 10733566, 11297557, 11971985, 12482991, 12486103, 12656673, 12842894, 14743216, 15084260, 15389287, 15601829, 15749833, 16126728, 16129692, 16286467, 16319058, 16365431, 16938294, 17363973, 17568778, 17693255, 17939994, 18198944, 18266467, 18462684, 18930
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	9804806
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	34721373
GO:0006468	Process	Protein phosphorylation	IDA	15084260, 20434986
GO:0006468	Process	Protein phosphorylation	NAS	9346484
GO:0006954	Process	Inflammatory response	IDA	10748004
GO:0006954	Process	Inflammatory response	IEA
GO:0006954	Process	Inflammatory response	TAS	18626576
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	1406630, 1493333, 25038658, 34721373
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	9346484, 20434986
GO:0007249	Process	Canonical NF-kappaB signal transduction	IMP	15383541, 25816133
GO:0007249	Process	Canonical NF-kappaB signal transduction	TAS	18626576
GO:0008384	Function	IkappaB kinase activity	IDA	9346484
GO:0008384	Function	IkappaB kinase activity	IEA
GO:0008384	Function	IkappaB kinase activity	TAS	11297557, 18626576
GO:0008385	Component	IkappaB kinase complex	IBA
GO:0008385	Component	IkappaB kinase complex	IEA
GO:0008385	Component	IkappaB kinase complex	IPI	20434986
GO:0008385	Component	IkappaB kinase complex	TAS	18626576
GO:0009615	Process	Response to virus	IEA
GO:0009615	Process	Response to virus	TAS	18626576
GO:0009898	Component	Cytoplasmic side of plasma membrane	ISS
GO:0010604	Process	Positive regulation of macromolecule metabolic process	IEA
GO:0010803	Process	Regulation of tumor necrosis factor-mediated signaling pathway	TAS
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0018105	Process	Peptidyl-serine phosphorylation	IDA	21399639, 25326418
GO:0019901	Function	Protein kinase binding	IPI	12492477
GO:0023019	Process	Signal transduction involved in regulation of gene expression	IDA	1406630, 25038658, 34721373
GO:0023019	Process	Signal transduction involved in regulation of gene expression	IDA	9346484
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IBA
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IMP	12656673, 15084260, 25816133
GO:0034121	Process	Regulation of toll-like receptor signaling pathway	TAS
GO:0034138	Process	Toll-like receptor 3 signaling pathway	TAS
GO:0035631	Component	CD40 receptor complex	ISS
GO:0035666	Process	TRIF-dependent toll-like receptor signaling pathway	TAS
GO:0038061	Process	Non-canonical NF-kappaB signal transduction	IDA	8413223
GO:0038095	Process	Fc-epsilon receptor signaling pathway	TAS
GO:0042802	Function	Identical protein binding	IPI	16319058, 21423167, 23776406
GO:0042803	Function	Protein homodimerization activity	IDA	23091055
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IBA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	9346484, 12656673
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IMP	30337470
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IDA	25038658
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	TAS	18626576
GO:0045121	Component	Membrane raft	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	NAS	9346484, 9346485, 9813230
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
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	IDA	15790681
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	TAS	18626576
GO:0051403	Process	Stress-activated MAPK cascade	TAS
GO:0051604	Process	Protein maturation	IDA	25860612
GO:0051604	Process	Protein maturation	IDA	11297557
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:0097110	Function	Scaffold protein binding	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	IDA	16968406
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	IDA	16968406
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	IEA
GO:1990459	Function	Transferrin receptor binding	IPI	23016877

MIM	HGNC	e!Ensembl
603258	5960	ENSG00000104365

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

Interactions

View interactions

678

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
IKBKB-related disorder	Pathogenic; Likely pathogenic	rs886041036, rs2487009371, rs2487679210	RCV003945040 RCV003416953 RCV003422471
Immunodeficiency 15a	Pathogenic	rs200296680, rs1563340753	RCV005042283 RCV000722132
Severe combined immunodeficiency disease	Likely pathogenic	rs2130736002, rs1563361838	RCV002238602 RCV002510318
Severe combined immunodeficiency due to IKK2 deficiency	Pathogenic; Likely pathogenic	rs886041036, rs1190950389, rs1205793780, rs2130681744, rs2129978037, rs2130681529, rs200296680, rs2487713743, rs2487734648, rs745492616, rs2487731363, rs2487691864, rs2487810076, rs2487739397, rs2487692827 View all (4 more)	RCV000088681 RCV001903991 RCV001908431 RCV001993177 RCV002002543 RCV001952743 RCV000144958 RCV002999163 RCV003016445 RCV003048046 RCV003583255 RCV003583790 RCV003583980 RCV003744460 RCV003743123 RCV003866269 RCV003990034 RCV003744629 RCV001230860

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Aganglionic megacolon	Uncertain significance	rs200841053	RCV000984703
Cholangiocarcinoma	Benign	rs16891219	RCV005920087
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs202226005	RCV005901423
Familial cancer of breast	Likely benign; Benign	rs2130670749, rs17875704	RCV005934637 RCV005907398
Hepatocellular carcinoma	Benign	rs3747811, rs2272736	RCV005923049 RCV005897062
Malignant lymphoma, large B-cell, diffuse	Benign	rs3747811, rs16891219, rs34309584	RCV005923051 RCV005920084 RCV005907269
Malignant tumor of urinary bladder	Benign	rs141453528	RCV005909454
Nonpapillary renal cell carcinoma	Uncertain significance	rs776259486	RCV005924164
Ovarian cancer	Benign	rs2272736	RCV005897063
Ovarian serous cystadenocarcinoma	Likely benign	rs2130309921	RCV005934668
See cases	Uncertain significance	rs2130681563	RCV002252433
Thyroid cancer, nonmedullary, 1	Benign	rs16891219	RCV005920086
Uterine carcinosarcoma	Benign	rs16891219	RCV005920085
Uveal melanoma	Benign	rs3747811	RCV005923050

Show/Hide Text Mining Associations (110)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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 View all (11 more)
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 View all (10 more)
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

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