Gene: TBK1

Alternate names for this Gene: FTDALS4|IIAE8|NAK|T2K

Gene 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 ubiquitination pathway, thereby allowing activation and nuclear translocation of the NFKB complex. The protein encoded by this gene is similar to IKB kinases and can mediate NFKB activation in response to certain growth factors.

Gene is located in Chromosome: 12

Location in Chromosome : 12q14.2

Description of this Gene: TANK binding kinase 1

Type of Gene: protein-coding

rs74654358 in TBK1 gene and Amyotrophic Lateral Sclerosis PMID 27455348 2016 Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

PMID 29566793 2018 Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

rs1555202947 in TBK1 gene and ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8 PMID 26513235 2015 Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis.

PMID 22851595 2012 Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood.

rs1366668789 in TBK1 gene and FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 PMID 25943890 2015 Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.

PMID 25803835 2015 Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia.

PMID 25700176 2015 Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.

rs10128757 in TBK1 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs55824172 in TBK1 gene and Motor Neuron Disease PMID 28089114 2017 Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.