Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
29110
Gene name Gene Name - the full gene name approved by the HGNC.
TANK binding kinase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TBK1
Synonyms (NCBI Gene) Gene synonyms aliases
AIARV, FTDALS4, IIAE8, NAK, T2K
Disease Acronyms (UniProt) Disease acronyms from UniProt database
AIARV, FTDALS4, IIAE8
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q14.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT006971 hsa-miR-200c-3p Luciferase reporter assay, Western blot 22991189
MIRT006971 hsa-miR-200c-3p Luciferase reporter assay, Western 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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002218 Process Activation of innate immune response IEA
GO:0003676 Function Nucleic acid binding IEA
GO:0004672 Function Protein kinase activity TAS
GO:0004674 Function Protein serine/threonine kinase activity IBA 21873635
GO:0004674 Function Protein serine/threonine kinase activity IDA 25636800, 25803835, 27103069
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604834 11584 ENSG00000183735
Protein
UniProt ID 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
Sequence length 729
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Frontotemporal Dementia With Motor Neuron Disease frontotemporal dementia with motor neuron disease GenCC
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis GWAS
Associations from Text Mining
Disease Name Relationship Type References
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