TBK1 TANK binding kinase 1

Gene ID: 29110, updated on 13-Apr-2024
Gene type: protein coding
Also known as: NAK; T2K; IIAE8; FTDALS4

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. The protein is also an important kinase for antiviral innate immunity response. [provided by RefSeq, Sep 2021]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 MedGen: C4693542OMIM: 617900GeneReviews: Not available	See labs
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 MedGen: C4225325OMIM: 616439GeneReviews: Amyotrophic Lateral Sclerosis Overview	See labs

Genomic context

Location:: 12q14.2

Sequence:: Chromosome: 12; NC_000012.12 (64452120..64502114)

Total number of exons:: 22

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for TBK1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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