Details for Gene TBK1

GENE NAME TBK1
CHROMOSOME 12
ENSEMBL ID None
ENTREZ ID ENSG00000183735
UNIPROT ACCESSION NUMBER Q9UHD2
GO MOLECULAR FUNCTION ['nucleic acid binding', 'protein serine/threonine/tyrosine kinase activity', 'protein binding', 'protein kinase activity', 'protein phosphatase binding', 'phosphoprotein binding', 'protein serine/threonine kinase activity', 'protein serine kinase activity', 'identical protein binding', 'ATP binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04014; hsa04137; hsa04140; hsa04620; hsa04621; hsa04622; hsa04623; hsa04657; hsa05014; hsa05022; hsa05131; hsa05135; hsa05160; hsa05161; hsa05162; hsa05163; hsa05164; hsa05165; hsa05167; hsa05168; hsa05169; hsa05170; hsa05171; R-HSA-1280215; R-HSA-1606322; R-HSA-1606341; R-HSA-1643685; R-HSA-166016; R-HSA-166166; R-HSA-168164; R-HSA-168249; R-HSA-168256; R-HSA-168898; R-HSA-168928; R-HSA-1834941; R-HSA-1834949; R-HSA-3134975; R-HSA-3249367; R-HSA-3270619; R-HSA-446652; R-HSA-449147; R-HSA-5663205; R-HSA-9008059; R-HSA-9013973; R-HSA-918233; R-HSA-933541; R-HSA-936440; R-HSA-936964; R-HSA-937061; R-HSA-9679191; R-HSA-9679506
11 combinations linked to TBK1 OLI1622; OLI642; OLI641; OLI1699; OLI643; OLI360; OLI644; OLI826; OLI1718; OLI1627; OLI1624
10 variants linked to TBK1 TBK1:c.349C>T, p.Arg117Ter; TBK1:c.2040dup, p.Asn681Ter; TBK1:c.1445_1446delAT, p.Tyr482Ter; TBK1:c.2170C>T, p.Arg724Cys; TBK1:c.1892_1894del, p.Leu631del; TBK1:c.1341-2delA, ; TBK1:c.1069C>T, p.Arg357Ter; TBK1:c.228+1G>A, ; TBK1:p.Arg573His; TBK1:p.Val421Leu
3 diseases linked to TBK1 Frontotemporal dementia; Amyotrophic lateral sclerosis; Common variable immunodeficiency
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