TBK1 Chromosome 12
TANK binding kinase 1
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What This Gene Does
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. The protein is also an important kinase for antiviral innate immunity response. [provided by RefSeq, Sep 2021]
Gene Info
Gene Group
I kappa B kinase family
Locus Type
gene with protein product
Location
12q14.2
Ensembl
ENSG00000183735
Associated Conditions (19)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
TBK1-related disorder
Encephalopathy
acute
infection-induced (herpes-specific)
susceptibility to
8
Motor neuron disease
Autoinflammation with arthritis and vasculitis
Severe SARS-CoV-2 infection
Melanoma
Cervical cancer
Primary progressive non fluent aphasia
Corticobasal syndrome
Amyotrophic lateral sclerosis
Papillary renal cell carcinoma type 1
Primary open angle glaucoma
Herpes simplex encephalitis
1
Key Variants
RS1027249002
Conflicting classifications of pathogenicity
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Health Risk
RS144370662
Conflicting classifications of pathogenicity
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, TBK1-related disorder, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Health Risk
RS145905497
Conflicting classifications of pathogenicity
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, TBK1-related disorder, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Health Risk
RS376075252
Conflicting classifications of pathogenicity
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Encephalopathy, acute
Health Risk
RS534404556
Conflicting classifications of pathogenicity
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Health Risk
RS55824172
Conflicting classifications of pathogenicity
Motor neuron disease, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, TBK1-related disorder
Health Risk
RS748061846
Conflicting classifications of pathogenicity
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Health Risk
RS749709445
Conflicting classifications of pathogenicity
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Health Risk
RS753802322
Conflicting classifications of pathogenicity
Severe SARS-CoV-2 infection, susceptibility to, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Health Risk
RS755646937
Conflicting classifications of pathogenicity
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Health Risk
RS899858451
Conflicting classifications of pathogenicity
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Health Risk
RS905184241
Conflicting classifications of pathogenicity
Motor neuron disease, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Motor neuron disease
Health Risk
All Variants (75)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2539511036 | Health Risk | Pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
| RS2539519111 | Health Risk | Pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
| RS2539520026 | Health Risk | Pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
| RS2539523784 | Health Risk | Pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
| RS2539534664 | Health Risk | Pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
| RS2539537276 | Health Risk | Pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
| RS2539537514 | Health Risk | Pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
| RS2539537579 | Health Risk | Pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
| RS369620088 | Health Risk | Pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
| RS748112833 | Health Risk | Pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
| RS755950225 | Health Risk | Pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
| RS758357594 | Health Risk | Pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
| RS767898276 | Health Risk | Pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
| RS769588220 | Health Risk | Pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Autoinflammation with arthritis and vasculitis, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
| RS876657404 | Health Risk | Pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
| RS876657406 | Health Risk | Pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
| RS142030898 | Health Risk | Pathogenic; other | Motor neuron disease, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Motor neuron disease |
| RS1064797170 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1402092579 | Health Risk | Pathogenic/Likely pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Amyotrophic lateral sclerosis, TBK1-related disorder |
| RS2040816609 | Health Risk | Pathogenic/Likely pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
| RS748007618 | Health Risk | Pathogenic/Likely pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
| RS757203783 | Health Risk | Pathogenic/Likely pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
| RS765106259 | Health Risk | Pathogenic/Likely pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
| RS1555202947 | Health Risk | risk factor | Encephalopathy, acute, infection-induced (herpes-specific) |
| RS1555203557 | Health Risk | risk factor | Encephalopathy, acute, infection-induced (herpes-specific) |