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

Gene Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1147
Gene name Gene Name - the full gene name approved by the HGNC.	Component of inhibitor of nuclear factor kappa B kinase complex
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CHUK
Synonyms (NCBI Gene) Gene synonyms aliases	BPS2, IKBKA, IKK-1, IKK-alpha, IKK1, IKKA, NFKBIKA, TCF16
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10q24.31
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the serine/threonine protein kinase family. The encoded protein, a component of a cytokine-activated protein complex that is an inhibitor of the essential transcription factor NF-kappa-B complex, phosphorylates sites that tri

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SNP ID	Visualize variation	Clinical significance	Consequence
rs267606736	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT005552	hsa-miR-15a-5p	Luciferase reporter assay, qRT-PCR, Western blot	20711193
MIRT005552	hsa-miR-15a-5p	Luciferase reporter assay, qRT-PCR, Western blot	20711193
MIRT005552	hsa-miR-15a-5p	Luciferase reporter assay, qRT-PCR, Western blot	20711193
MIRT005552	hsa-miR-15a-5p	Luciferase reporter assay, qRT-PCR, Western blot	20711193
MIRT005554	hsa-miR-16-5p	Luciferase reporter assay, qRT-PCR, Western blot	20711193
MIRT005554	hsa-miR-16-5p	Luciferase reporter assay, qRT-PCR, Western blot	20711193
MIRT005555	hsa-miR-223-3p	Luciferase reporter assay, qRT-PCR, Western blot	20711193
MIRT005555	hsa-miR-223-3p	Luciferase reporter assay, qRT-PCR, Western blot	20711193
MIRT007041	hsa-miR-23b-3p	Luciferase reporter assay	22660635
MIRT007169	hsa-miR-195-5p	Luciferase reporter assay	23487264
MIRT007169	hsa-miR-195-5p	Luciferase reporter assay	23487264
MIRT005555	hsa-miR-223-3p	Luciferase reporter assay, Western blotting, Immunofluorescence, qRT-PCR	33688203
MIRT892923	hsa-miR-1303	CLIP-seq
MIRT892924	hsa-miR-15a	CLIP-seq
MIRT892925	hsa-miR-15b	CLIP-seq
MIRT892926	hsa-miR-16	CLIP-seq
MIRT892927	hsa-miR-195	CLIP-seq
MIRT892928	hsa-miR-3121-3p	CLIP-seq
MIRT892929	hsa-miR-3188	CLIP-seq
MIRT892930	hsa-miR-3662	CLIP-seq
MIRT892931	hsa-miR-377	CLIP-seq
MIRT892932	hsa-miR-424	CLIP-seq
MIRT892933	hsa-miR-4452	CLIP-seq
MIRT892934	hsa-miR-4536	CLIP-seq
MIRT892935	hsa-miR-4799-5p	CLIP-seq
MIRT892936	hsa-miR-497	CLIP-seq
MIRT892937	hsa-miR-545	CLIP-seq
MIRT892938	hsa-miR-548p	CLIP-seq
MIRT892939	hsa-miR-877	CLIP-seq
MIRT892940	hsa-miR-888	CLIP-seq
MIRT1964660	hsa-miR-2110	CLIP-seq
MIRT1964661	hsa-miR-3144-5p	CLIP-seq
MIRT1964662	hsa-miR-3150a-3p	CLIP-seq
MIRT1964663	hsa-miR-3191	CLIP-seq
MIRT1964664	hsa-miR-4260	CLIP-seq
MIRT1964665	hsa-miR-4464	CLIP-seq
MIRT1964666	hsa-miR-4652-5p	CLIP-seq
MIRT1964667	hsa-miR-4659a-3p	CLIP-seq
MIRT1964668	hsa-miR-4659b-3p	CLIP-seq
MIRT1964669	hsa-miR-4748	CLIP-seq
MIRT1964670	hsa-miR-513a-3p	CLIP-seq
MIRT1964671	hsa-miR-587	CLIP-seq
MIRT892924	hsa-miR-15a	CLIP-seq
MIRT892925	hsa-miR-15b	CLIP-seq
MIRT892926	hsa-miR-16	CLIP-seq
MIRT892927	hsa-miR-195	CLIP-seq
MIRT1964660	hsa-miR-2110	CLIP-seq
MIRT1964661	hsa-miR-3144-5p	CLIP-seq
MIRT1964662	hsa-miR-3150a-3p	CLIP-seq
MIRT1964663	hsa-miR-3191	CLIP-seq
MIRT2200783	hsa-miR-323-3p	CLIP-seq
MIRT892932	hsa-miR-424	CLIP-seq
MIRT1964664	hsa-miR-4260	CLIP-seq
MIRT1964665	hsa-miR-4464	CLIP-seq
MIRT2200784	hsa-miR-4468	CLIP-seq
MIRT2200785	hsa-miR-4504	CLIP-seq
MIRT1964666	hsa-miR-4652-5p	CLIP-seq
MIRT1964667	hsa-miR-4659a-3p	CLIP-seq
MIRT1964668	hsa-miR-4659b-3p	CLIP-seq
MIRT2200786	hsa-miR-4731-3p	CLIP-seq
MIRT1964669	hsa-miR-4748	CLIP-seq
MIRT2200787	hsa-miR-4801	CLIP-seq
MIRT892936	hsa-miR-497	CLIP-seq
MIRT892937	hsa-miR-545	CLIP-seq
MIRT892938	hsa-miR-548p	CLIP-seq
MIRT2200788	hsa-miR-549	CLIP-seq
MIRT1964671	hsa-miR-587	CLIP-seq
MIRT2386093	hsa-miR-3154	CLIP-seq
MIRT2386094	hsa-miR-374c	CLIP-seq
MIRT2386095	hsa-miR-376c	CLIP-seq
MIRT2386096	hsa-miR-4678	CLIP-seq
MIRT2386097	hsa-miR-655	CLIP-seq
MIRT1964664	hsa-miR-4260	CLIP-seq
MIRT2447063	hsa-miR-4272	CLIP-seq
MIRT2503492	hsa-miR-1244	CLIP-seq
MIRT2503493	hsa-miR-2113	CLIP-seq
MIRT2503494	hsa-miR-3117-5p	CLIP-seq
MIRT2386093	hsa-miR-3154	CLIP-seq
MIRT2503495	hsa-miR-3189-3p	CLIP-seq
MIRT2200783	hsa-miR-323-3p	CLIP-seq
MIRT2386094	hsa-miR-374c	CLIP-seq
MIRT2386095	hsa-miR-376c	CLIP-seq
MIRT2503496	hsa-miR-382	CLIP-seq
MIRT2503497	hsa-miR-3942-3p	CLIP-seq
MIRT1964664	hsa-miR-4260	CLIP-seq
MIRT2503498	hsa-miR-448	CLIP-seq
MIRT2386096	hsa-miR-4678	CLIP-seq
MIRT2503499	hsa-miR-4760-5p	CLIP-seq
MIRT2503500	hsa-miR-486-3p	CLIP-seq
MIRT2503501	hsa-miR-548n	CLIP-seq
MIRT2503502	hsa-miR-590-3p	CLIP-seq
MIRT2386097	hsa-miR-655	CLIP-seq
MIRT2503503	hsa-miR-935	CLIP-seq

Transcription factors

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Transcription factor	Regulation	Reference
ETS1	Activation	15469934
TP53	Repression	15469934

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002221	Process	Pattern recognition receptor signaling pathway	IEA
GO:0003009	Process	Skeletal muscle contraction	IEA
GO:0004672	Function	Protein kinase activity	IDA	20434986
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	12656673
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	8246997, 9520446, 9751060, 10521409, 10733566, 11297557, 11971985, 12482991, 12486103, 12656673, 12730857, 14743216, 15125834, 15601829, 15749833, 16126728, 16129692, 16286467, 16319058, 16498412, 16938294, 17363973, 17568778, 18266467, 18268325, 18579519, 18922877, 19666608, 198753
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	30341167
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	9252186
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	34721373
GO:0006954	Process	Inflammatory response	IEA
GO:0006954	Process	Inflammatory response	TAS	18626576
GO:0006955	Process	Immune response	TAS	9346484
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	1493333
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	9244310, 9252186, 9346484, 20434986
GO:0007249	Process	Canonical NF-kappaB signal transduction	TAS	18626576
GO:0008384	Function	IkappaB kinase activity	IDA	9244310, 9252186, 9346484
GO:0008384	Function	IkappaB kinase activity	IEA
GO:0008384	Function	IkappaB kinase activity	TAS	9252186, 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:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009615	Process	Response to virus	TAS	18626576
GO:0009636	Process	Response to toxic substance	IEA
GO:0009653	Process	Anatomical structure morphogenesis	TAS	10747982
GO:0009898	Component	Cytoplasmic side of plasma membrane	ISS
GO:0010034	Process	Response to acetate	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0032088	Process	Negative regulation of NF-kappaB transcription factor activity	IMP	11536016
GO:0032727	Process	Positive regulation of interferon-alpha production	IEA
GO:0032727	Process	Positive regulation of interferon-alpha production	IMP	24784232
GO:0033194	Process	Response to hydroperoxide	IEA
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IBA
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IMP	12656673
GO:0034142	Process	Toll-like receptor 4 signaling pathway	IDA	7479976, 25355951
GO:0034142	Process	Toll-like receptor 4 signaling pathway	IDA	26189595
GO:0035631	Component	CD40 receptor complex	ISS
GO:0038061	Process	Non-canonical NF-kappaB signal transduction	IDA	12048232
GO:0038061	Process	Non-canonical NF-kappaB signal transduction	IDA	26189595
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	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	23487264
GO:0043200	Process	Response to amino acid	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	TAS	18626576
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
GO:0046982	Function	Protein heterodimerization activity	IDA	23091055
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	TAS	18626576
GO:0051146	Process	Striated muscle cell differentiation	IEA
GO:0061847	Process	Response to cholecystokinin	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IDA	23091055
GO:0097110	Function	Scaffold protein binding	IDA	23776175
GO:0097110	Function	Scaffold protein binding	IEA
GO:0098586	Process	Cellular response to virus	IEA
GO:0098586	Process	Cellular response to virus	IMP	24784232
GO:1990459	Function	Transferrin receptor binding	IEA
GO:1990459	Function	Transferrin receptor binding	IPI	23016877

MIM	HGNC	e!Ensembl
600664	1974	ENSG00000213341

Protein

UniProt ID

O15111

Protein name

Inhibitor of nuclear factor kappa-B kinase subunit alpha (I-kappa-B kinase alpha) (IKK-A) (IKK-alpha) (IkBKA) (IkappaB kinase) (EC 2.7.11.10) (Conserved helix-loop-helix ubiquitous kinase) (I-kappa-B kinase 1) (IKK-1) (IKK1) (Nuclear factor NF-kappa-B inh

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:18626576, PubMed:92

PDB

3BRT , 5EBZ , 5TQW , 5TQX , 5TQY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00069	Pkinase	15 → 298	Protein kinase domain	Domain
PF18397	IKBKB_SDD	386 → 659	IQBAL scaffold dimerization domain	Domain
PF12179	IKKbetaNEMObind	707 → 743	I-kappa-kinase-beta NEMO binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed.

Sequence

MERPPGLRPGAGGPWEMRERLGTGGFGNVCLYQHRELDLKIAIKSCRLELSTKNRERWCH
EIQIMKKLNHANVVKACDVPEELNILIHDVPLLAMEYCSGGDLRKLLNKPENCCGLKESQ
ILSLLSDIGSGIRYLHENKIIHRDLKPENIVLQDVGGKIIHKIIDLGYAKDVDQGSLCTS
FVGTLQYLAPELFENKPYTATVDYWSFGTMVFECIAGYRPFLHHLQPFTWHEKIKKKDPK
CIFACEEMSGEVRFSSHLPQPNSLCSLVVEPMENWLQLMLNWDPQQRGGPVDLTLKQPRC
FVLMDHILNLKIVHILNMTSAKIISFLLPPDESLHSLQSRIERETGINTGSQELLSETGI
SLDPRKPASQCVLDGVRGCDSYMVYLFDKSKTVYEGPFASRSLSDCVNYIVQDSKIQLPI
IQLRKVWAEAVHYVSGLKEDYSRLFQGQRAAMLSLLRYNANLTKMKNTLISASQQLKAKL
EFFHKSIQLDLERYSEQMTYGISSEKMLKAWKEMEEKAIHYAEVGVIGYLEDQIMSLHAE
IMELQKSPYGRRQGDLMESLEQRAIDLYKQLKHRPSDHSYSDSTEMVKIIVHTVQSQDRV
LKELFGHLSKLLGCKQKIIDLLPKVEVALSNIKEADNTVMFMQGKRQKEIWHLLKIACTQ
SSARSLVGSSLEGAVTPQTSAWLPPTSAEHDHSLSCVVTPQDGETSAQMIEENLNCLGHL
STIIHEANEEQGNSMMNLDWSWLTE

Sequence length

745

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Cocoon Syndrome	cocoon syndrome	rs267606736	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Bartsocas-Papas Syndrome	Bartsocas-Papas syndrome 2	N/A	N/A	GenCC
Diabetes	Type 2 diabetes	N/A	N/A	GWAS

Show/Hide Text Mining Associations (68)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Agammaglobulinemia	Associate	39812688
Breast Neoplasms	Associate	15808510, 21575199, 23178494, 25377085, 28006839, 40650045
Carcinoma Hepatocellular	Associate	19331697, 27409165, 32265434
Carcinoma Ovarian Epithelial	Associate	27537390
Carcinoma Renal Cell	Associate	37847185
Carcinoma Squamous Cell	Associate	21170261
Cholangiocarcinoma	Associate	29620225
Colorectal Neoplasms	Associate	12771929, 19513071, 35173303
Crohn Disease	Associate	26215868, 34629811
Cystic Fibrosis	Associate	10706733, 12507912, 12762338
Death	Associate	33258506
Diabetes Mellitus Type 2	Associate	36139069
Diabetes Mellitus Type 2	Stimulate	37223012
Drug Related Side Effects and Adverse Reactions	Associate	19104039, 32265434
Ectodermal Dysplasia	Associate	18633439
Ectodermal dysplasia hypohidrotic with immune deficiency	Associate	22156202
Esophageal Neoplasms	Stimulate	39337357
Fibrosis	Associate	20684021
Gastrointestinal Neoplasms	Associate	39337357
Gingival Diseases	Associate	31743516
Glioma	Associate	22093097
Haspeslagh Fryns Muelenaere syndrome	Associate	25691407
Hay Wells syndrome	Inhibit	18633439
Hay Wells syndrome	Associate	29523099, 39812688
Head and Neck Neoplasms	Associate	23455325
Hepatitis C	Associate	23708292
Hereditary leiomyomatosis and renal cell cancer	Associate	12000717
Hypoxia	Associate	35043517
Immune System Diseases	Associate	29523099
Immunologic Deficiency Syndromes	Associate	29523099, 39812688
Immunologic Deficiency Syndromes	Inhibit	29523099
Infections	Associate	28270578
Inflammation	Associate	15051615, 18163512, 21191633, 25063733, 27021546, 30209117, 31212975, 31849975, 33258506, 33998855, 34737366, 36498953
Inflammatory Breast Neoplasms	Associate	18248671
Insulin Resistance	Associate	37223012
Kotzot Richter syndrome	Associate	39596634
Leukemia Lymphocytic Chronic B Cell	Associate	39596634
Leukemia Lymphoma Adult T Cell	Associate	15153339
Liver Diseases	Associate	30978214
Lung Neoplasms	Associate	17434128, 36823149
Lupus Erythematosus Systemic	Associate	22952582
Lupus Nephritis	Stimulate	18285351
Lymphoma B Cell	Associate	18367492
Lymphoma Large B Cell Diffuse	Associate	19104039, 36191884
Melanoma	Associate	35043517
Multiple Myeloma	Associate	19270264, 19934314, 21816815
Myotonic Dystrophy	Stimulate	36139069
Nasopharyngeal Carcinoma	Associate	24739462, 26739838
Neoplasm Metastasis	Associate	21191633
Neoplasms	Stimulate	15166955
Neoplasms	Associate	15469934, 17434128, 20051109, 27473869, 27537390, 28006839, 29159834, 29630899, 32265434, 33258506, 35732321, 36068491
Neoplasms	Inhibit	35173303
Nephritis Interstitial	Associate	18285351
Non alcoholic Fatty Liver Disease	Associate	34558842
Osteoarthritis	Associate	33636333, 34737366
Pancreatic Neoplasms	Associate	16036106
Pancreatitis Chronic	Associate	15166955
Popliteal Pterygium Syndrome Lethal Type	Associate	25691407
Prostatic Neoplasms	Associate	21191633, 23894194, 25125658, 28208611, 33258506
Prostatic Neoplasms Castration Resistant	Associate	33258506
Pulmonary Disease Chronic Obstructive	Associate	30291224
Respiratory Tract Infections	Associate	39812688
Shock Septic	Associate	10477696
Squamous Cell Carcinoma of Head and Neck	Associate	23455325, 28435450, 34060226, 35176168, 40650045
Stomach Neoplasms	Associate	39337357
Tertiary Lymphoid Structures	Stimulate	39337357
Wilms Tumor	Associate	29159834
X Linked Combined Immunodeficiency Diseases	Associate	39812688

CHUK (component of inhibitor of nuclear factor kappa B kinase complex)