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Aliases for TBK1 Gene

Aliases for TBK1 Gene

  • TANK Binding Kinase 1 2 3 5
  • NF-Kappa-B-Activating Kinase 3 4
  • TANK-Binding Kinase 1 2 4
  • NAK 3 4
  • T2K 3 4
  • Serine/Threonine-Protein Kinase TBK1 3
  • NF-KB-Activating Kinase 3
  • EC 2.7.11.1 4
  • EC 2.7.11 56
  • FTDALS4 3

External Ids for TBK1 Gene

Previous GeneCards Identifiers for TBK1 Gene

  • GC00U990677
  • GC13U900006
  • GC12P064562
  • GC12P063132
  • GC12P064845
  • GC12P061898

Summaries for TBK1 Gene

Entrez Gene Summary for TBK1 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 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. [provided by RefSeq, Oct 2010]

CIViC summary for TBK1 Gene

GeneCards Summary for TBK1 Gene

TBK1 (TANK Binding Kinase 1) is a Protein Coding gene. Diseases associated with TBK1 include Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 and Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1. Among its related pathways are Cytosolic sensors of pathogen-associated DNA and Mitophagy - animal. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and protein kinase activity. An important paralog of this gene is IKBKE.

UniProtKB/Swiss-Prot for TBK1 Gene

  • Serine/threonine kinase that plays an essential role in regulating inflammatory responses to foreign agents. Following activation of toll-like receptors by viral or bacterial components, associates with TRAF3 and TANK and phosphorylates interferon regulatory factors (IRFs) IRF3 and IRF7 as well as DDX3X. This activity allows subsequent homodimerization and nuclear translocation of the IRFs leading to transcriptional activation of pro-inflammatory and antiviral genes including IFNA and IFNB. In order to establish such an antiviral state, TBK1 form several different complexes whose composition depends on the type of cell and cellular stimuli. Thus, several scaffolding molecules including FADD, TRADD, MAVS, AZI2, TANK or TBKBP1/SINTBAD can be recruited to the TBK1-containing-complexes. Under particular conditions, functions as a NF-kappa-B effector by phosphorylating NF-kappa-B inhibitor alpha/NFKBIA, IKBKB or RELA to translocate NF-Kappa-B to the nucleus. Restricts bacterial proliferation by phosphorylating the autophagy receptor OPTN/Optineurin on Ser-177, thus enhancing LC3 binding affinity and antibacterial autophagy (PubMed:21617041). Phosphorylates SMCR8 component of the C9orf72-SMCR8 complex, promoting autophagosome maturation (PubMed:27103069). Phosphorylates and activates AKT1 (PubMed:21464307). Seems to play a role in energy balance regulation by sustaining a state of chronic, low-grade inflammation in obesity, wich leads to a negative impact on insulin sensitivity. Attenuates retroviral budding by phosphorylating the endosomal sorting complex required for transport-I (ESCRT-I) subunit VPS37C (PubMed:21270402). Phosphorylates Borna disease virus (BDV) P protein (PubMed:16155125).

Gene Wiki entry for TBK1 Gene

Additional gene information for TBK1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBK1 Gene

Genomics for TBK1 Gene

GeneHancer (GH) Regulatory Elements for TBK1 Gene

Promoters and enhancers for TBK1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I064450 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 558.2 +0.5 487 3.6 PKNOX1 CLOCK ARNT ARID4B SIN3A DMAP1 YY1 POLR2B ZNF213 ZNF207 TBK1 ENSG00000277895 XPOT RPS11P6
GH12I064403 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 36.9 -47.1 -47095 3 CLOCK FEZF1 DMAP1 YY1 ZNF143 ZNF548 SP3 ZFP41 ZNF610 GLIS1 XPOT LEMD3 TBK1 SRGAP1 ENSG00000250280 PABPC1P4 C12orf56 LOC100420899
GH12I064607 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 28.6 +159.0 159022 5.9 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 RASSF3 LOC105369804 TBK1 LOC100420899 ATP6V1E1P3 C12orf66 GNS GC12P064623
GH12I064778 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE 29.9 +328.9 328863 4.7 SIN3A ZNF2 GLIS2 RUNX3 ZNF202 SP3 SMARCB1 SMARCA4 ZNF585B GLIS1 TBC1D30 TBK1 GNS PABPC1P4 LEMD3 LOC100420899 RASSF3 GC12P064764 ENSG00000215159 GC12P064723
GH12I065168 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 20.7 +718.6 718584 3.9 HDGF PKNOX1 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 LEMD3 ENSG00000276853 ENSG00000250280 TBK1 MSRB3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TBK1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TBK1 gene promoter:

Genomic Locations for TBK1 Gene

Genomic Locations for TBK1 Gene
chr12:64,451,880-64,502,119
(GRCh38/hg38)
Size:
50,240 bases
Orientation:
Plus strand
chr12:64,845,660-64,895,899
(GRCh37/hg19)

Genomic View for TBK1 Gene

Genes around TBK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBK1 Gene

Proteins for TBK1 Gene

  • Protein details for TBK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHD2-TBK1_HUMAN
    Recommended name:
    Serine/threonine-protein kinase TBK1
    Protein Accession:
    Q9UHD2
    Secondary Accessions:
    • A8K4S4
    • Q8IYV3
    • Q9NUJ5

    Protein attributes for TBK1 Gene

    Size:
    729 amino acids
    Molecular mass:
    83642 Da
    Quaternary structure:
    • Homodimer. Interacts with DDX3X, TIRAP and TRAF2. Part of a ternary complex consisting of TANK, TRAF2 and TBK1. Interacts with AZI2, TANK and TBKBP1; these interactions are mutually exclusive and mediate TBK1 activation. Interacts with GSK3B; this interaction promotes TBK1 self-association and autophosphorylation. Interacts with SIKE1; SIKE1 is associated with TBK1 under physiological condition and dissociated from TBK1 upon viral infection or TLR3 stimulation. Interacts with IRF3 and DDX58/RIG-I. Interacts with CYLD. Interacts with OPTN and TRAF3. Interacts with SRC. Interacts with the exocyst complex subunit SEC5/EXOC2; this interaction is sufficient to trigger TBK1 activity. Interacts with TMEM173/MITA. Interacts with IFIT3 (via N-terminus). Interacts with MAVS only in the presence of IFIT3. Interacts with TICAM1 and this interaction is enhanced in the presence of WDFY1 (PubMed:25736436). Interacts with TRIM26 (PubMed:26611359).
    • (Microbial infection) Interacts with HCV NS3; this interaction leads to inhibition of cellular antiviral response by blocking necessary interactions between the TBK1 and its substrates IRF3 and IRF7.
    Miscellaneous:
    • In cancer cells, pathological TBK1 activation promotes oncogenic transformation by suppressing programmed cell death. Mechanistically, the RALB-SEC5/EXOC2-TBK1 signaling cascade seems to participate in both innate immune signaling and cell transformation. Additionally, TBK1 supports oncogenesis by directly phosphorylating and activating AKT1 at the exocyst (PubMed:21042276).
    SequenceCaution:
    • Sequence=BAA92129.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TBK1 Gene

neXtProt entry for TBK1 Gene

Selected DME Specific Peptides for TBK1 Gene

Q9UHD2:
  • YGTEEYLHPDMYERAVLRK
  • YHAATGSLPF
  • YNEEQIHK
  • GPRRNKE
  • HRDIKPGN

Post-translational modifications for TBK1 Gene

  • Autophosphorylation at Ser-172 activates the kinase, and is an essential step for virus-triggered signaling. Phosphorylated by IKBKB/IKKB at Ser-172. Phosphorylation requires homodimerization and ubiquitination at Lys-30 and Lys-401. Dephosphorylated at Ser-172 by PPM1B and this negatively regulates its role in mediating antiviral response.
  • Lys-63-linked polyubiquitination by MIB1 after RNA virus infection, or by NRDP1 after LPS stimulation at Lys-30 and Lys-401, participates in kinase activation. Lys-48-linked polyubiquitination at Lys-670 by DTX4 leads to proteasomal degradation. Lys-48-linked polyubiquitination by TRAIP also leads to proteasomal degradation. Lys-63-linked polyubiquitination by RNF128 at Lys-30 and Lys-401 leads to the activation of antiviral responses.
  • Ubiquitination at isoforms=30, posLast=154154, posLast=401401, and isoforms=670

Other Protein References for TBK1 Gene

Domains & Families for TBK1 Gene

Gene Families for TBK1 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for TBK1 Gene

Suggested Antigen Peptide Sequences for TBK1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UHD2

UniProtKB/Swiss-Prot:

TBK1_HUMAN :
  • Comprises A N-terminal kinase domain, a ubiquitin-like domain and a C-terminal coiled-coil region mediating homodimerization.
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. I-kappa-B kinase subfamily.
Domain:
  • Comprises A N-terminal kinase domain, a ubiquitin-like domain and a C-terminal coiled-coil region mediating homodimerization.
Family:
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. I-kappa-B kinase subfamily.
genes like me logo Genes that share domains with TBK1: view

Function for TBK1 Gene

Molecular function for TBK1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot Function:
Serine/threonine kinase that plays an essential role in regulating inflammatory responses to foreign agents. Following activation of toll-like receptors by viral or bacterial components, associates with TRAF3 and TANK and phosphorylates interferon regulatory factors (IRFs) IRF3 and IRF7 as well as DDX3X. This activity allows subsequent homodimerization and nuclear translocation of the IRFs leading to transcriptional activation of pro-inflammatory and antiviral genes including IFNA and IFNB. In order to establish such an antiviral state, TBK1 form several different complexes whose composition depends on the type of cell and cellular stimuli. Thus, several scaffolding molecules including FADD, TRADD, MAVS, AZI2, TANK or TBKBP1/SINTBAD can be recruited to the TBK1-containing-complexes. Under particular conditions, functions as a NF-kappa-B effector by phosphorylating NF-kappa-B inhibitor alpha/NFKBIA, IKBKB or RELA to translocate NF-Kappa-B to the nucleus. Restricts bacterial proliferation by phosphorylating the autophagy receptor OPTN/Optineurin on Ser-177, thus enhancing LC3 binding affinity and antibacterial autophagy (PubMed:21617041). Phosphorylates SMCR8 component of the C9orf72-SMCR8 complex, promoting autophagosome maturation (PubMed:27103069). Phosphorylates and activates AKT1 (PubMed:21464307). Seems to play a role in energy balance regulation by sustaining a state of chronic, low-grade inflammation in obesity, wich leads to a negative impact on insulin sensitivity. Attenuates retroviral budding by phosphorylating the endosomal sorting complex required for transport-I (ESCRT-I) subunit VPS37C (PubMed:21270402). Phosphorylates Borna disease virus (BDV) P protein (PubMed:16155125).

Enzyme Numbers (IUBMB) for TBK1 Gene

Phenotypes From GWAS Catalog for TBK1 Gene

Gene Ontology (GO) - Molecular Function for TBK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0004672 protein kinase activity TAS,IEA --
GO:0004674 protein serine/threonine kinase activity TAS 21042276
GO:0005515 protein binding IPI 14743216
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with TBK1: view
genes like me logo Genes that share phenotypes with TBK1: view

Human Phenotype Ontology for TBK1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TBK1 Gene

MGI Knock Outs for TBK1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TBK1

No data available for Transcription Factor Targets and HOMER Transcription for TBK1 Gene

Localization for TBK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBK1 Gene

Cytoplasm. Note=Upon mitogen stimulation or triggering of the immune system, TBK1 is recruited to the exocyst by EXOC2.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBK1 gene
Compartment Confidence
cytosol 5
endosome 5
nucleus 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
extracellular 1
peroxisome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TBK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 21813773
GO:0005829 cytosol TAS --
GO:0010008 endosome membrane TAS --
GO:0016235 aggresome IDA --
genes like me logo Genes that share ontologies with TBK1: view

Pathways & Interactions for TBK1 Gene

genes like me logo Genes that share pathways with TBK1: view

SIGNOR curated interactions for TBK1 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TBK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002218 activation of innate immune response IEA --
GO:0002376 immune system process IEA --
GO:0006468 protein phosphorylation IDA,IEA 27103069
GO:0006954 inflammatory response TAS 21042276
GO:0007249 I-kappaB kinase/NF-kappaB signaling TAS 21042276
genes like me logo Genes that share ontologies with TBK1: view

Drugs & Compounds for TBK1 Gene

(3) Drugs for TBK1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for TBK1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TBK1: view

Transcripts for TBK1 Gene

Unigene Clusters for TBK1 Gene

TANK-binding kinase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TBK1

Alternative Splicing Database (ASD) splice patterns (SP) for TBK1 Gene

No ASD Table

Relevant External Links for TBK1 Gene

GeneLoc Exon Structure for
TBK1
ECgene alternative splicing isoforms for
TBK1

Expression for TBK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TBK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TBK1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.9), Lymph node (9.1), and Lung (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TBK1 Gene



Protein tissue co-expression partners for TBK1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TBK1 Gene:

TBK1

SOURCE GeneReport for Unigene cluster for TBK1 Gene:

Hs.505874

mRNA Expression by UniProt/SwissProt for TBK1 Gene:

Q9UHD2-TBK1_HUMAN
Tissue specificity: Ubiquitous with higher expression in testis. Expressed in the ganglion cells, nerve fiber layer and microvasculature of the retina.

Evidence on tissue expression from TISSUES for TBK1 Gene

  • Spleen(4.5)
  • Nervous system(3.4)
  • Kidney(2.5)
  • Blood(2.4)
  • Lymph node(2.3)
  • Eye(2.2)
  • Heart(2.2)
  • Liver(2.2)
  • Muscle(2.1)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TBK1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • epiglottis
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
  • vocal cord
Thorax:
  • bronchus
  • clavicle
  • esophagus
  • heart
  • lung
  • scapula
  • trachea
Abdomen:
  • biliary tract
  • liver
  • stomach
Limb:
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • shin
  • shoulder
  • thigh
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with TBK1: view

Primer Products

No data available for mRNA differential expression in normal tissues for TBK1 Gene

Orthologs for TBK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TBK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBK1 33 34
  • 99.73 (n)
cow
(Bos Taurus)
Mammalia TBK1 33 34
  • 94.74 (n)
dog
(Canis familiaris)
Mammalia TBK1 33 34
  • 94.6 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TBK1 34
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbk1 33
  • 86.88 (n)
mouse
(Mus musculus)
Mammalia Tbk1 33 16 34
  • 86.37 (n)
chicken
(Gallus gallus)
Aves TBK1 33 34
  • 80.29 (n)
lizard
(Anolis carolinensis)
Reptilia TBK1 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbk1 33
  • 71.31 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14920 33
zebrafish
(Danio rerio)
Actinopterygii tbk1 33 34
  • 63.49 (n)
fruit fly
(Drosophila melanogaster)
Insecta ik2 35 33 34
  • 47.99 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009565 33
  • 46.21 (n)
worm
(Caenorhabditis elegans)
Secernentea Y39G8B.5 34
  • 17 (a)
ManyToMany
ikke-1 34
  • 14 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 35 (a)
OneToMany
Species where no ortholog for TBK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TBK1 Gene

ENSEMBL:
Gene Tree for TBK1 (if available)
TreeFam:
Gene Tree for TBK1 (if available)

Paralogs for TBK1 Gene

Paralogs for TBK1 Gene

(8) SIMAP similar genes for TBK1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with TBK1: view

Variants for TBK1 Gene

Sequence variations from dbSNP and Humsavar for TBK1 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs141806113 likely-benign, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 64,484,486(+) A/G coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs142030898 other, Motor neuron disease 64,486,007(+) C/T coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs143590388 benign, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 64,484,420(+) C/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant, synonymous_variant
rs145905497 uncertain-significance, likely-benign, not specified, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 64,481,993(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs186475789 uncertain-significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 64,495,773(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for TBK1 Gene

Variant ID Type Subtype PubMed ID
nsv832443 CNV loss 17160897

Variation tolerance for TBK1 Gene

Residual Variation Intolerance Score: 18% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.08; 38.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TBK1 Gene

Human Gene Mutation Database (HGMD)
TBK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBK1 Gene

Disorders for TBK1 Gene

MalaCards: The human disease database

(17) MalaCards diseases for TBK1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TBK1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TBK1_HUMAN
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439]: A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. {ECO:0000269 PubMed:25803835, ECO:0000269 PubMed:25943890}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Glaucoma 1, open angle, P (GLC1P) [MIM:177700]: A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. GLC1P is characterized by early onset, thin central corneas and low intraocular pressure. {ECO:0000269 PubMed:21447600, ECO:0000269 PubMed:22306015}. Note=The disease may be caused by mutations affecting the gene represented in this entry. A copy number variation on chromosome 12q14 consisting of a 300 kb duplication that includes TBK1, XPOT, RASSF3 and GNS has been found in individuals affected by glaucoma. TBK1 is the most likely candidate for the disorder (PubMed:21447600). {ECO:0000269 PubMed:21447600}.

Additional Disease Information for TBK1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TBK1: view

No data available for Genatlas for TBK1 Gene

Publications for TBK1 Gene

  1. NAK is an IkappaB kinase-activating kinase. (PMID: 10783893) Tojima Y … Nakanishi M (Nature 2000) 2 3 4 22 58
  2. NF-kappaB activation by a signaling complex containing TRAF2, TANK and TBK1, a novel IKK-related kinase. (PMID: 10581243) Pomerantz JL … Baltimore D (The EMBO journal 1999) 2 3 4 22 58
  3. The DEAD-box helicase DDX3X is a critical component of the TANK-binding kinase 1-dependent innate immune response. (PMID: 18583960) Soulat D … Superti-Furga G (The EMBO journal 2008) 3 4 22 58
  4. The tumour suppressor CYLD is a negative regulator of RIG-I-mediated antiviral response. (PMID: 18636086) Friedman CS … Ting AT (EMBO reports 2008) 3 4 22 58
  5. Involvement of the ubiquitin-like domain of TBK1/IKK-i kinases in regulation of IFN-inducible genes. (PMID: 17599067) Ikeda F … Dikic I (The EMBO journal 2007) 3 4 22 58

Products for TBK1 Gene

Sources for TBK1 Gene

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