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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	29110
Gene name	TANK binding kinase 1
Gene symbol	TBK1
Synonyms (NCBI Gene)	AIARVFTDALS4IIAE8NAKT2K
Chromosome	12
Chromosome location	12q14.2
Summary	The NF-kappa-B (NFKB) complex of proteins is inhibited by I-kappa-B (IKB) proteins, which inactivate NFKB by trapping it in the cytoplasm. Phosphorylation of serine residues on the IKB proteins by IKB kinases marks them for destruction via the ubiquitinat

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SNP ID	Visualize variation	Clinical significance	Consequence
rs55824172	C>G,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs142030898	C>T	Other, pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs748112833	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs755950225	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs756751089	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs767898276	G>A	Pathogenic	Splice donor variant
rs876657404	TTAA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs876657405	TG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs876657406	T>C	Pathogenic	Splice donor variant
rs905184241	C>G	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1010930015	A>C	Risk-factor	Missense variant, non coding transcript variant, coding sequence variant
rs1027249002	C>A,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1064797170	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1328949478	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1341055534	G>A	Pathogenic	Splice donor variant
rs1402092579	AAG>-	Pathogenic	Inframe deletion, coding sequence variant, non coding transcript variant
rs1555202947	G>C	Risk-factor	Missense variant, non coding transcript variant, coding sequence variant
rs1555203557	A>G	Risk-factor	Missense variant, non coding transcript variant, coding sequence variant
rs1555204731	GA>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1565814492	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1565825132	G>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1592350883	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592350887	G>A	Pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant
rs1592362719	G>A	Likely-pathogenic	Splice donor variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT006971	hsa-miR-200c-3p	Luciferase reporter assayWestern blot	22991189
MIRT006971	hsa-miR-200c-3p	Luciferase reporter assayWestern blot	22991189
MIRT003360	hsa-miR-221-3p	Reporter assay;Western blot;Microarray	20018759
MIRT053453	hsa-miR-452-5p	Microarray	23807165
MIRT517392	hsa-miR-3133	PAR-CLIP	20371350
MIRT517391	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT066418	hsa-miR-6792-5p	PAR-CLIP	20371350
MIRT066413	hsa-let-7f-2-3p	PAR-CLIP	20371350
MIRT066415	hsa-miR-1185-1-3p	PAR-CLIP	20371350
MIRT066414	hsa-miR-1185-2-3p	PAR-CLIP	20371350
MIRT517392	hsa-miR-3133	PAR-CLIP	20371350
MIRT517391	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT066418	hsa-miR-6792-5p	PAR-CLIP	20371350
MIRT066413	hsa-let-7f-2-3p	PAR-CLIP	20371350
MIRT066415	hsa-miR-1185-1-3p	PAR-CLIP	20371350
MIRT066414	hsa-miR-1185-2-3p	PAR-CLIP	20371350
MIRT517392	hsa-miR-3133	PAR-CLIP	23446348
MIRT517391	hsa-miR-186-5p	PAR-CLIP	23446348
MIRT066418	hsa-miR-6792-5p	PAR-CLIP	23446348
MIRT066413	hsa-let-7f-2-3p	PAR-CLIP	23446348
MIRT066415	hsa-miR-1185-1-3p	PAR-CLIP	23446348
MIRT066414	hsa-miR-1185-2-3p	PAR-CLIP	23446348
MIRT500838	hsa-miR-219a-2-3p	PAR-CLIP	24398324
MIRT500837	hsa-miR-200b-3p	PAR-CLIP	24398324
MIRT006971	hsa-miR-200c-3p	PAR-CLIP	24398324
MIRT500835	hsa-miR-429	PAR-CLIP	24398324
MIRT500836	hsa-miR-4724-5p	PAR-CLIP	24398324
MIRT500834	hsa-miR-4680-3p	PAR-CLIP	24398324
MIRT500833	hsa-miR-219b-3p	PAR-CLIP	24398324
MIRT500831	hsa-miR-3671	PAR-CLIP	24398324
MIRT500832	hsa-miR-3674	PAR-CLIP	24398324
MIRT517392	hsa-miR-3133	PAR-CLIP	20371350
MIRT517391	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT066418	hsa-miR-6792-5p	PAR-CLIP	20371350
MIRT066413	hsa-let-7f-2-3p	PAR-CLIP	20371350
MIRT066415	hsa-miR-1185-1-3p	PAR-CLIP	20371350
MIRT066414	hsa-miR-1185-2-3p	PAR-CLIP	20371350
MIRT517392	hsa-miR-3133	PAR-CLIP	20371350
MIRT517391	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT066418	hsa-miR-6792-5p	PAR-CLIP	20371350
MIRT066413	hsa-let-7f-2-3p	PAR-CLIP	20371350
MIRT066415	hsa-miR-1185-1-3p	PAR-CLIP	20371350
MIRT066414	hsa-miR-1185-2-3p	PAR-CLIP	20371350
MIRT517392	hsa-miR-3133	PAR-CLIP	23446348
MIRT517391	hsa-miR-186-5p	PAR-CLIP	23446348
MIRT066418	hsa-miR-6792-5p	PAR-CLIP	23446348
MIRT066413	hsa-let-7f-2-3p	PAR-CLIP	23446348
MIRT066415	hsa-miR-1185-1-3p	PAR-CLIP	23446348
MIRT066414	hsa-miR-1185-2-3p	PAR-CLIP	23446348
MIRT500838	hsa-miR-219a-2-3p	PAR-CLIP	24398324
MIRT500837	hsa-miR-200b-3p	PAR-CLIP	24398324
MIRT006971	hsa-miR-200c-3p	PAR-CLIP	24398324
MIRT500835	hsa-miR-429	PAR-CLIP	24398324
MIRT500836	hsa-miR-4724-5p	PAR-CLIP	24398324
MIRT500834	hsa-miR-4680-3p	PAR-CLIP	24398324
MIRT500833	hsa-miR-219b-3p	PAR-CLIP	24398324
MIRT500831	hsa-miR-3671	PAR-CLIP	24398324
MIRT500832	hsa-miR-3674	PAR-CLIP	24398324
MIRT755488	hsa-miR-19a-3p	Luciferase reporter assayWestern blottingqRT-PCRin vitro cullelar assays	35433983
MIRT1414199	hsa-miR-1237	CLIP-seq
MIRT1414200	hsa-miR-1238	CLIP-seq
MIRT1414201	hsa-miR-1248	CLIP-seq
MIRT1414202	hsa-miR-132	CLIP-seq
MIRT1414203	hsa-miR-135a	CLIP-seq
MIRT1414204	hsa-miR-135b	CLIP-seq
MIRT1414205	hsa-miR-142-5p	CLIP-seq
MIRT1414206	hsa-miR-155	CLIP-seq
MIRT1414207	hsa-miR-200b	CLIP-seq
MIRT1414208	hsa-miR-200c	CLIP-seq
MIRT1414209	hsa-miR-212	CLIP-seq
MIRT1414210	hsa-miR-219-2-3p	CLIP-seq
MIRT1414211	hsa-miR-27a	CLIP-seq
MIRT1414212	hsa-miR-27b	CLIP-seq
MIRT1414213	hsa-miR-2964a-3p	CLIP-seq
MIRT1414214	hsa-miR-3119	CLIP-seq
MIRT1414215	hsa-miR-3160-5p	CLIP-seq
MIRT1414216	hsa-miR-3163	CLIP-seq
MIRT1414217	hsa-miR-340	CLIP-seq
MIRT1414218	hsa-miR-362-5p	CLIP-seq
MIRT1414219	hsa-miR-365	CLIP-seq
MIRT1414220	hsa-miR-3910	CLIP-seq
MIRT1414221	hsa-miR-412	CLIP-seq
MIRT1414222	hsa-miR-4252	CLIP-seq
MIRT1414223	hsa-miR-4282	CLIP-seq
MIRT1414224	hsa-miR-4420	CLIP-seq
MIRT1414225	hsa-miR-4466	CLIP-seq
MIRT1414226	hsa-miR-4484	CLIP-seq
MIRT1414227	hsa-miR-4659a-3p	CLIP-seq
MIRT1414228	hsa-miR-4659b-3p	CLIP-seq
MIRT1414229	hsa-miR-4699-3p	CLIP-seq
MIRT1414230	hsa-miR-4729	CLIP-seq
MIRT1414231	hsa-miR-4733-5p	CLIP-seq
MIRT1414232	hsa-miR-500b	CLIP-seq
MIRT1414233	hsa-miR-501-5p	CLIP-seq
MIRT1414234	hsa-miR-513a-3p	CLIP-seq
MIRT1414235	hsa-miR-513a-5p	CLIP-seq
MIRT1414236	hsa-miR-548an	CLIP-seq
MIRT1414237	hsa-miR-577	CLIP-seq
MIRT1414238	hsa-miR-579	CLIP-seq
MIRT1414239	hsa-miR-664	CLIP-seq
MIRT1414240	hsa-miR-675	CLIP-seq
MIRT1414241	hsa-miR-767-3p	CLIP-seq
MIRT1414242	hsa-miR-942	CLIP-seq
MIRT1414243	hsa-miR-944	CLIP-seq
MIRT2124259	hsa-miR-128	CLIP-seq
MIRT2124260	hsa-miR-145	CLIP-seq
MIRT1414207	hsa-miR-200b	CLIP-seq
MIRT1414208	hsa-miR-200c	CLIP-seq
MIRT1414211	hsa-miR-27a	CLIP-seq
MIRT1414212	hsa-miR-27b	CLIP-seq
MIRT2124261	hsa-miR-3125	CLIP-seq
MIRT2124262	hsa-miR-3149	CLIP-seq
MIRT2124263	hsa-miR-3180-5p	CLIP-seq
MIRT2124264	hsa-miR-338-5p	CLIP-seq
MIRT2124265	hsa-miR-3916	CLIP-seq
MIRT2124266	hsa-miR-3919	CLIP-seq
MIRT2124267	hsa-miR-3924	CLIP-seq
MIRT2124268	hsa-miR-3943	CLIP-seq
MIRT2124269	hsa-miR-4286	CLIP-seq
MIRT2124270	hsa-miR-4323	CLIP-seq
MIRT1414229	hsa-miR-4699-3p	CLIP-seq
MIRT2124271	hsa-miR-4712-5p	CLIP-seq
MIRT1414230	hsa-miR-4729	CLIP-seq
MIRT2124272	hsa-miR-4756-3p	CLIP-seq
MIRT2124273	hsa-miR-4758-3p	CLIP-seq
MIRT2124274	hsa-miR-568	CLIP-seq
MIRT1414238	hsa-miR-579	CLIP-seq
MIRT1414239	hsa-miR-664	CLIP-seq
MIRT2124275	hsa-miR-759	CLIP-seq
MIRT1414241	hsa-miR-767-3p	CLIP-seq
MIRT2124276	hsa-miR-770-5p	CLIP-seq
MIRT2124277	hsa-miR-877	CLIP-seq
MIRT2346563	hsa-miR-1279	CLIP-seq
MIRT2124259	hsa-miR-128	CLIP-seq
MIRT1414205	hsa-miR-142-5p	CLIP-seq
MIRT2124260	hsa-miR-145	CLIP-seq
MIRT1414207	hsa-miR-200b	CLIP-seq
MIRT1414208	hsa-miR-200c	CLIP-seq
MIRT1414210	hsa-miR-219-2-3p	CLIP-seq
MIRT1414211	hsa-miR-27a	CLIP-seq
MIRT1414212	hsa-miR-27b	CLIP-seq
MIRT1414213	hsa-miR-2964a-3p	CLIP-seq
MIRT2124261	hsa-miR-3125	CLIP-seq
MIRT2124262	hsa-miR-3149	CLIP-seq
MIRT1414216	hsa-miR-3163	CLIP-seq
MIRT2124263	hsa-miR-3180-5p	CLIP-seq
MIRT2124264	hsa-miR-338-5p	CLIP-seq
MIRT1414217	hsa-miR-340	CLIP-seq
MIRT1414219	hsa-miR-365	CLIP-seq
MIRT2124265	hsa-miR-3916	CLIP-seq
MIRT2124266	hsa-miR-3919	CLIP-seq
MIRT2124268	hsa-miR-3943	CLIP-seq
MIRT1414221	hsa-miR-412	CLIP-seq
MIRT1414223	hsa-miR-4282	CLIP-seq
MIRT2124269	hsa-miR-4286	CLIP-seq
MIRT2124270	hsa-miR-4323	CLIP-seq
MIRT1414224	hsa-miR-4420	CLIP-seq
MIRT1414227	hsa-miR-4659a-3p	CLIP-seq
MIRT1414228	hsa-miR-4659b-3p	CLIP-seq
MIRT1414229	hsa-miR-4699-3p	CLIP-seq
MIRT2124271	hsa-miR-4712-5p	CLIP-seq
MIRT2124272	hsa-miR-4756-3p	CLIP-seq
MIRT2124273	hsa-miR-4758-3p	CLIP-seq
MIRT2346564	hsa-miR-505	CLIP-seq
MIRT1414234	hsa-miR-513a-3p	CLIP-seq
MIRT1414235	hsa-miR-513a-5p	CLIP-seq
MIRT2346565	hsa-miR-520d-5p	CLIP-seq
MIRT2346566	hsa-miR-524-5p	CLIP-seq
MIRT2124274	hsa-miR-568	CLIP-seq
MIRT1414238	hsa-miR-579	CLIP-seq
MIRT1414239	hsa-miR-664	CLIP-seq
MIRT2124275	hsa-miR-759	CLIP-seq
MIRT2124276	hsa-miR-770-5p	CLIP-seq
MIRT2124277	hsa-miR-877	CLIP-seq
MIRT2639251	hsa-miR-1200	CLIP-seq
MIRT1414199	hsa-miR-1237	CLIP-seq
MIRT1414201	hsa-miR-1248	CLIP-seq
MIRT2124259	hsa-miR-128	CLIP-seq
MIRT1414202	hsa-miR-132	CLIP-seq
MIRT1414209	hsa-miR-212	CLIP-seq
MIRT1414211	hsa-miR-27a	CLIP-seq
MIRT1414212	hsa-miR-27b	CLIP-seq
MIRT2639252	hsa-miR-3613-3p	CLIP-seq
MIRT1414218	hsa-miR-362-5p	CLIP-seq
MIRT2639253	hsa-miR-371-5p	CLIP-seq
MIRT2639254	hsa-miR-371b-5p	CLIP-seq
MIRT1414221	hsa-miR-412	CLIP-seq
MIRT1414222	hsa-miR-4252	CLIP-seq
MIRT1414223	hsa-miR-4282	CLIP-seq
MIRT2639255	hsa-miR-4436b-5p	CLIP-seq
MIRT1414225	hsa-miR-4466	CLIP-seq
MIRT1414231	hsa-miR-4733-5p	CLIP-seq
MIRT1414232	hsa-miR-500b	CLIP-seq
MIRT1414233	hsa-miR-501-5p	CLIP-seq
MIRT1414235	hsa-miR-513a-5p	CLIP-seq
MIRT2639256	hsa-miR-513c	CLIP-seq
MIRT2639257	hsa-miR-514b-5p	CLIP-seq
MIRT2346565	hsa-miR-520d-5p	CLIP-seq
MIRT2346566	hsa-miR-524-5p	CLIP-seq
MIRT2639258	hsa-miR-622	CLIP-seq
MIRT2639259	hsa-miR-659	CLIP-seq
MIRT1414240	hsa-miR-675	CLIP-seq
MIRT1414241	hsa-miR-767-3p	CLIP-seq
MIRT2639251	hsa-miR-1200	CLIP-seq
MIRT1414199	hsa-miR-1237	CLIP-seq
MIRT1414201	hsa-miR-1248	CLIP-seq
MIRT2124259	hsa-miR-128	CLIP-seq
MIRT1414202	hsa-miR-132	CLIP-seq
MIRT1414209	hsa-miR-212	CLIP-seq
MIRT1414211	hsa-miR-27a	CLIP-seq
MIRT1414212	hsa-miR-27b	CLIP-seq
MIRT2639252	hsa-miR-3613-3p	CLIP-seq
MIRT1414218	hsa-miR-362-5p	CLIP-seq
MIRT2639253	hsa-miR-371-5p	CLIP-seq
MIRT2639254	hsa-miR-371b-5p	CLIP-seq
MIRT1414221	hsa-miR-412	CLIP-seq
MIRT1414222	hsa-miR-4252	CLIP-seq
MIRT1414223	hsa-miR-4282	CLIP-seq
MIRT1414231	hsa-miR-4733-5p	CLIP-seq
MIRT1414232	hsa-miR-500b	CLIP-seq
MIRT1414233	hsa-miR-501-5p	CLIP-seq
MIRT1414235	hsa-miR-513a-5p	CLIP-seq
MIRT2639256	hsa-miR-513c	CLIP-seq
MIRT2639257	hsa-miR-514b-5p	CLIP-seq
MIRT2346565	hsa-miR-520d-5p	CLIP-seq
MIRT2346566	hsa-miR-524-5p	CLIP-seq
MIRT2639258	hsa-miR-622	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002181	Process	Cytoplasmic translation	IDA	8706699, 34314702
GO:0002218	Process	Activation of innate immune response	IBA
GO:0002218	Process	Activation of innate immune response	IDA	25636800
GO:0002218	Process	Activation of innate immune response	IEA
GO:0002218	Process	Activation of innate immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002753	Process	Cytoplasmic pattern recognition receptor signaling pathway	IDA	8524823, 21931555, 31340999
GO:0002753	Process	Cytoplasmic pattern recognition receptor signaling pathway	IDA	29441066
GO:0003676	Function	Nucleic acid binding	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004672	Function	Protein kinase activity	NAS	10581243
GO:0004674	Function	Protein serine/threonine kinase activity	EXP	27035970
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	14703513, 22394562, 22921120, 25636800, 25803835, 27103069, 29150432, 29441066, 31530866, 31662325, 31709703
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	ISS
GO:0004674	Function	Protein serine/threonine kinase activity	TAS	21042276, 37403426
GO:0005515	Function	Protein binding	IPI	14743216, 15841462, 16281057, 16306936, 17568778, 17599067, 18307994, 18583960, 18636086, 18724357, 18818105, 19153231, 19380580, 19416887, 19419966, 19433799, 20098747, 20174559, 20562859, 20628368, 21813773, 21903422, 21931555, 21988832, 22000020, 22939624, 23096996, 23414517, 235
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	14703513
GO:0005737	Component	Cytoplasm	IDA	21813773, 29251827
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	21813773
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS	37403426
GO:0005829	Component	Cytosol	TAS
GO:0006468	Process	Protein phosphorylation	IDA	27103069
GO:0006606	Process	Protein import into nucleus	IDA	31340999
GO:0006954	Process	Inflammatory response	TAS	21042276
GO:0007249	Process	Canonical NF-kappaB signal transduction	TAS	10581243, 21042276
GO:0009299	Process	MRNA transcription	IDA	9891032
GO:0009615	Process	Response to virus	TAS	21042276
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010508	Process	Positive regulation of autophagy	IDA	28871090
GO:0010508	Process	Positive regulation of autophagy	IDA	28871090
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0016236	Process	Macroautophagy	TAS
GO:0016239	Process	Positive regulation of macroautophagy	IDA	27103069
GO:0016239	Process	Positive regulation of macroautophagy	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0018105	Process	Peptidyl-serine phosphorylation	IDA	25636800
GO:0018107	Process	Peptidyl-threonine phosphorylation	IDA	25636800
GO:0019222	Process	Regulation of metabolic process	IEA
GO:0019903	Function	Protein phosphatase binding	IEA
GO:0019903	Function	Protein phosphatase binding	ISS
GO:0023019	Process	Signal transduction involved in regulation of gene expression	TAS	37403426
GO:0031669	Process	Cellular response to nutrient levels	IDA	12747827, 29750193
GO:0032008	Process	Positive regulation of TOR signaling	IEA
GO:0032479	Process	Regulation of type I interferon production	IDA	25636800
GO:0032480	Process	Negative regulation of type I interferon production	ISS
GO:0032481	Process	Positive regulation of type I interferon production	IBA
GO:0032481	Process	Positive regulation of type I interferon production	IDA	14703513, 18636090, 25636800, 32130408, 36603579
GO:0032481	Process	Positive regulation of type I interferon production	IDA	14703513, 22394562, 25636800, 29441066
GO:0032481	Process	Positive regulation of type I interferon production	TAS	21042276
GO:0032727	Process	Positive regulation of interferon-alpha production	IDA	16127453
GO:0032728	Process	Positive regulation of interferon-beta production	IDA	16127453
GO:0032728	Process	Positive regulation of interferon-beta production	IEA
GO:0032728	Process	Positive regulation of interferon-beta production	IEA
GO:0032728	Process	Positive regulation of interferon-beta production	TAS	16979567
GO:0034142	Process	Toll-like receptor 4 signaling pathway	IDA	25636800
GO:0034142	Process	Toll-like receptor 4 signaling pathway	IDA	28747347
GO:0038202	Process	TORC1 signaling	IDA	12087098, 12747827, 29750193
GO:0038203	Process	TORC2 signaling	IDA	29424687
GO:0042802	Function	Identical protein binding	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEP	12761501
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	28147277
GO:0044565	Process	Dendritic cell proliferation	IEA
GO:0045087	Process	Innate immune response	IDA	25636800
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	TAS	37403426
GO:0045087	Process	Innate immune response	TAS	21042276, 37403426
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16127453
GO:0045948	Process	Positive regulation of translational initiation	IDA	1922062, 29750193
GO:0050830	Process	Defense response to Gram-positive bacterium	IEA
GO:0051219	Function	Phosphoprotein binding	IPI	14530355
GO:0051607	Process	Defense response to virus	IEA
GO:0051607	Process	Defense response to virus	NAS	17142768, 21931631, 24622840
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	9094314
GO:0060337	Process	Type I interferon-mediated signaling pathway	NAS	17142768, 21931631
GO:0060340	Process	Positive regulation of type I interferon-mediated signaling pathway	IEA
GO:0061470	Process	T follicular helper cell differentiation	IDA	27135603
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	22412986
GO:0098542	Process	Defense response to other organism	IEA
GO:0106310	Function	Protein serine kinase activity	IDA	22412986
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0140374	Process	Antiviral innate immune response	IDA	9891032, 36603579
GO:0140374	Process	Antiviral innate immune response	IDA	14703513, 22394562
GO:0140896	Process	CGAS/STING signaling pathway	IDA	25636800
GO:0140896	Process	CGAS/STING signaling pathway	TAS	37403426
GO:0140896	Process	CGAS/STING signaling pathway	TAS	37403426
GO:1900017	Process	Positive regulation of cytokine production involved in inflammatory response	TAS	37403426
GO:1902554	Component	Serine/threonine protein kinase complex	NAS	17142768, 21931631, 24622840
GO:1904262	Process	Negative regulation of TORC1 signaling	IDA	31530866
GO:1904263	Process	Positive regulation of TORC1 signaling	IDA	29150432
GO:1904417	Process	Positive regulation of xenophagy	IEA
GO:1904515	Process	Positive regulation of TORC2 signaling	IEA
GO:1904515	Process	Positive regulation of TORC2 signaling	ISS

MIM	HGNC	e!Ensembl
604834	11584	ENSG00000183735

Q9UHD2

Protein name

Serine/threonine-protein kinase TBK1 (EC 2.7.11.1) (NF-kappa-B-activating kinase) (T2K) (TANK-binding kinase 1)

Protein function

Serine/threonine kinase that plays an essential role in regulating inflammatory responses to foreign agents (PubMed:10581243, PubMed:11839743, PubMed:12692549, PubMed:12702806, PubMed:14703513, PubMed:15367631, PubMed:15485837, PubMed:18583960,

PDB

4EFO , 4EUT , 4EUU , 4IM0 , 4IM2 , 4IM3 , 4IW0 , 4IWO , 4IWP , 4IWQ , 5EOA , 5EOF , 5EP6 , 5W5V , 6BNY , 6BOD , 6BOE , 6CQ0 , 6CQ4 , 6CQ5 , 6NT9 , 6O8B , 6RSR , 6RST , 6RSU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00069	Pkinase	9 → 299	Protein kinase domain	Domain
PF18396	TBK1_ULD	308 → 395	TANK binding kinase 1 ubiquitin-like domain	Domain
PF18394	TBK1_CCD1	400 → 655	TANK-binding kinase 1 coiled-coil domain 1	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous with higher expression in testis. Expressed in the ganglion cells, nerve fiber layer and microvasculature of the retina. {ECO:0000269|PubMed:10783893, ECO:0000269|PubMed:21447600}.

Sequence

MQSTSNHLWLLSDILGQGATANVFRGRHKKTGDLFAIKVFNNISFLRPVDVQMREFEVLK
KLNHKNIVKLFAIEEETTTRHKVLIMEFCPCGSLYTVLEEPSNAYGLPESEFLIVLRDVV
GGMNHLRENGIVHRDIKPGNIMRVIGEDGQSVYKLTDFGAARELEDDEQFVSLYGTEEYL
HPDMYERAVLRKDHQKKYGATVDLWSIGVTFYHAATGSLPFRPFEGPRRNKEVMYKIITG
KPSGAISGVQKAENGPIDWSGDMPVSCSLSRGLQVLLTPVLANILEADQEKCWGFDQFFA
ETSDILHRMVIHVFSLQQMTAHKIYIHSYNTATIFHELVYKQTKIISSNQELIYEGRRLV
LEPGRLAQHFPKTTEENPIFVVSREPLNTIGLIYEKISLPKVHPRYDLDGDASMAKAITG
VVCYACRIASTLLLYQELMRKGIRWLIELIKDDYNETVHKKTEVVITLDFCIRNIEKTVK
VYEKLMKINLEAAELGEISDIHTKLLRLSSSQGTIETSLQDIDSRLSPGGSLADAWAHQE
GTHPKDRNVEKLQVLLNCMTEIYYQFKKDKAERRLAYNEEQIHKFDKQKLYYHATKAMTH
FTDECVKKYEAFLNKSEEWIRKMLHLRKQLLSLTNQCFDIEEEVSKYQEYTNELQETLPQ
KMFTASSGIKHTMTPIYPSSNTLVEMTLGMKKLKEEMEGVVKELAENNHILERFGSLTMD
GGLRNVDCL

Sequence length

729

Interactions

View interactions

526

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Amyotrophic lateral sclerosis	Pathogenic; Likely pathogenic	rs1592362719, rs1341055534, rs1402092579	RCV001843550 RCV003333118 RCV001843556
Autoinflammation with arthritis and vasculitis	Pathogenic	rs769588220	RCV004601430
Corticobasal syndrome	Likely pathogenic	rs1565825132	RCV000768401
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8	Pathogenic	rs1555204731, rs1341055534	RCV001824857 RCV001196463
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Likely pathogenic; Pathogenic	rs765106259, rs2136087722, rs2136088420, rs757203783, rs2136078402, rs1279619378, rs1178717934, rs2136088227, rs758357594, rs2136088934, rs2040932099, rs2136079548, rs2040816609, rs2136088954, rs200879808 View all (42 more)	RCV001328679 RCV001386793 RCV001388492 RCV001825077 RCV002039154 RCV001892768 RCV002019738 RCV001874314 RCV001901252 RCV002000195 RCV002037825 RCV001970049 RCV001901321 RCV001972841 RCV002272614 RCV002283871 RCV002471876 RCV003058387 RCV003062524 RCV002511171 RCV000185595 RCV000185596 RCV000185597 RCV000185598 RCV000185599 RCV000185600 RCV002820163 RCV002834874 RCV002863152 RCV002863800 RCV002847242 RCV002927416 RCV002933815 RCV003026167 RCV003019974 RCV001859503 RCV003391164 RCV003590235 RCV003589495 RCV003590404 RCV003754706 RCV003754704 RCV003754685 RCV003752663 RCV003752758 RCV003753864 RCV003994628 RCV003994799 RCV000652982 RCV000703742 RCV002536579 RCV000797764 RCV000995894 RCV000995895 RCV000995897 RCV000995659 RCV001095423 RCV001291944
Herpes simplex encephalitis, susceptibility to, 1	Pathogenic	rs1555204731	RCV001824857
Motor neuron disease	Pathogenic	rs142030898	RCV000492391
Papillary renal cell carcinoma type 1	Pathogenic	rs1341055534	RCV005912226
Primary open angle glaucoma	Pathogenic	rs1555204731	RCV001824857
Primary progressive non fluent aphasia	Likely pathogenic	rs1565825132	RCV000768401
TBK1-related disorder	Pathogenic; Likely pathogenic	rs1555204731, rs1328949478, rs1592362719, rs1402092579	RCV003892491 RCV004745579 RCV003411753 RCV003396578

Show/Hide Unknown Diseases (23)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs41292027	RCV005898387
Cervical cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	rs753802322, rs41292027	RCV005866968 RCV005898389
Clear cell carcinoma of kidney	Benign; Likely benign	rs41292027	RCV005898390
Colon adenocarcinoma	Benign; Likely benign	rs201728462	RCV005869613
Familial cancer of breast	Benign; Likely benign	rs201728462	RCV005869612
Gastric cancer	Uncertain significance	rs755520364	RCV005909131
Glaucoma 1, open angle, P	Benign; Likely benign	rs7486100, rs57810028, rs35635889, rs41292019, rs371275822, rs369498196	RCV000625499 RCV000625058 RCV000625059 RCV000625497 RCV000625326 RCV000625498
Hereditary spastic paraplegia 8	Uncertain significance	rs1565813507	RCV000785125
Lung cancer	Benign; Likely benign	rs11837054, rs41292027	RCV005915957 RCV005898395
Malignant tumor of esophagus	Benign; Likely benign	rs41292027	RCV005898388
Malignant tumor of urinary bladder	Benign; Likely benign	rs371275822	RCV005897193
Melanoma	Conflicting classifications of pathogenicity	rs753802322	RCV005866969
Ovarian serous cystadenocarcinoma	Likely benign; Benign	rs116841618, rs41292027	RCV005916426 RCV005898393
Progressive spasticity	Uncertain significance	rs34774243	RCV005430539
Sarcoma	Benign; Likely benign	rs11837054, rs41292027	RCV005915956 RCV005898392
See cases	Uncertain significance	rs763874949	RCV002252736
Severe SARS-CoV-2 infection, susceptibility to	Conflicting classifications of pathogenicity	rs753802322	RCV001358670
Spastic hemiparesis	Uncertain significance	rs34774243	RCV005430539
Susceptibility to severe COVID-19	Benign; Likely benign	rs368859659	RCV003117650
Thymoma	Likely benign	rs776585949	RCV005905395
Uterine carcinosarcoma	Benign; Likely benign	rs41292027	RCV005898394
Uterine corpus endometrial carcinoma	Benign	rs11837054	RCV005915958
Uveal melanoma	Benign; Likely benign	rs41292027	RCV005898391

Show/Hide Text Mining Associations (92)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute On Chronic Liver Failure	Associate	34774066
Adenocarcinoma	Associate	34252349
Adenomyosis	Associate	34010983
Alzheimer Disease	Associate	30549411, 31824497, 39753133
Amyotrophic Lateral Sclerosis	Associate	25700176, 25803835, 25943890, 26365381, 26581300, 26674655, 27156075, 27247382, 28008748, 28822984, 28877469, 29146049, 30033073, 30193106, 31118040 View all (15 more)
Amyotrophic lateral sclerosis 1	Associate	25803835, 30033073, 31748271
Aphasia Primary Progressive	Associate	31160356, 31244341, 32980182, 35964197
Atrophy	Associate	26674655, 31160356, 35964197
Basal Ganglia Diseases	Associate	26674655
Blindness	Associate	31987900
Brain Injuries Traumatic	Associate	36449399
Breast Neoplasms	Associate	24449872
Breast Neoplasms	Stimulate	39185402
Carcinoma Hepatocellular	Stimulate	19958770
Carcinoma Hepatocellular	Associate	25100852, 31730575, 33006365, 37043475
Carcinoma Non Small Cell Lung	Associate	24752990
Carcinoma Pancreatic Ductal	Associate	25833382
Carcinoma Renal Cell	Associate	38211588
CD59 Deficiency	Stimulate	36030554
Cleft Palate	Stimulate	21618603
Cognition Disorders	Associate	40713844
Colitis Ulcerative	Associate	36165492
Colorectal Neoplasms	Associate	24752990, 31869529, 35637944
Corticobasal Degeneration	Associate	31160356
COVID 19	Associate	27094905, 35694544
Coxsackievirus Infections	Associate	36044516
Dementia	Associate	25803835, 26674655, 29859640, 30549411, 31160356, 33061333, 34099552, 37330543
Dermatomyositis	Stimulate	36030554
Developmental Disabilities	Associate	28716898
Diabetes Mellitus Type 2	Associate	28683283
Dysmenorrhea	Associate	34010983
Epidermodysplasia Verruciformis	Associate	36044516
Esophageal Neoplasms	Associate	19558549
Exfoliation Syndrome	Associate	27881886
Fatty Liver	Associate	28683283
Fibrosis	Associate	34774066
Frontotemporal Dementia	Associate	26581300, 26674655, 27156075, 28008748, 29146049, 30193106, 31160356, 31244341, 32413959, 32843152, 32980182, 34099552, 34518945, 34561610, 34800171, 35964197, 40713844 View all (2 more)
Frontotemporal Lobar Degeneration	Associate	25943890, 31160356, 31362587, 32413959
Glaucoma	Associate	21447600, 23421332, 24699864, 27620379, 28282485, 28984711, 31987900, 33548116
Glaucoma Open Angle	Associate	18307994, 21310917, 25284765, 25414181, 27881886
Glioblastoma	Associate	33741083
Hepatic Adenomas Familial	Associate	36769169
Hypoxia	Stimulate	31810986
Hypoxia Brain	Stimulate	16537515
Idiopathic Pulmonary Fibrosis	Associate	32159970
Immune System Diseases	Associate	24860242
Inflammation	Associate	24860242, 28683283, 28716898, 31068249, 32413959, 34099552, 35637944, 35694544, 36449399, 36769169, 36939385, 40341181
Influenza Human	Stimulate	24641803
Insulin Resistance	Associate	28683283
Kidney Neoplasms	Associate	31810986
Leukemia Lymphocytic Chronic B Cell	Associate	36104109
Leukemia Lymphoma Adult T Cell	Associate	32024820
Lewy Body Disease	Associate	31996268
Liver Neoplasms	Associate	27620379, 30033073, 32413959, 36223668, 36769169, 37043475
Low Tension Glaucoma	Associate	21447600, 23286385, 23421332, 24699864, 25284765, 27275741, 27881886, 28984711, 31987900
Lung Neoplasms	Associate	23836654, 24468793, 26656453, 28716898
Lupus Erythematosus Systemic	Associate	36309313
Lymphatic Metastasis	Associate	37991737
Melanoma	Associate	24962318
Memory Disorders	Associate	29146049
Metabolic Diseases	Associate	28683283
Mitochondrial Diseases	Associate	34099552
Motor Neuron Disease	Associate	28089114, 31244341, 37133535
Neoplasms	Associate	16537515, 17018274, 19847166, 24752990, 25028521, 26416897, 27145266, 28716898, 31810986, 33529438, 35637944, 36939385, 38211588
Neoplasms	Inhibit	36988258
Nerve Degeneration	Associate	33548116
Neurodegenerative Diseases	Associate	27247382, 27620379, 29859640, 34800171, 40713844
Neuroinflammatory Diseases	Associate	30193106
Neurotoxicity Syndromes	Associate	31362587
Obesity	Stimulate	28683283
Pancreatic Neoplasms	Associate	24752990, 40315568
Pancreatitis	Associate	36044516
Parkinson Disease	Associate	26365381
Parkinson Disease Familial Type 1	Associate	32980182
Parkinsonian Disorders	Associate	31160356
Periodic fever familial autosomal dominant	Associate	33661274
Primary Progressive Nonfluent Aphasia	Associate	31160356
Pulmonary Disease Chronic Obstructive	Associate	26498252
Pulmonary Fibrosis	Associate	32159970
Sjogren's Syndrome	Associate	40341181
Small Cell Lung Carcinoma	Associate	26772203
Smoke Inhalation Injury	Associate	21618603
Stomach Neoplasms	Associate	27145266
Supranuclear Palsy Progressive	Associate	35842134
TDP 43 Proteinopathies	Associate	31160356, 31244341
Thyroid Neoplasms	Associate	36988258
Triple Negative Breast Neoplasms	Associate	31662325
Tuberculosis Spinal	Associate	39232642
Uterine Diseases	Associate	34010983
Virus Diseases	Associate	34203706, 34908452
von Hippel Lindau Disease	Stimulate	31810986
Zika Virus Infection	Associate	27568284

TBK1 (TANK binding kinase 1)