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Gene

TBK1

TANK binding kinase 1

Summary

Cytogenetic location
12q14.2
Coordinates
Chromosome 12: 64,452,120–64,502,114 (GRCh38)
Exons
21 exons across 50 kb
Protein
729 amino acids
Inheritance
Autosomal dominant
Also known as
NAK
MANE Select transcript
ENST00000331710.10NM_013254.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Amyotrophic Lateral Sclerosis (ALS)

    • Amyotrophic Lateral Sclerosis

      A neurodegenerative disorder of upper and lower motor neurons, occurring in sporadic and familial forms.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Tofersen (Qalsody, FDA 2023) for SOD1-ALS; ASO trials for C9orf72 and FUS; riluzole; edaravone; AMX0035 (sodium phenylbutyrate-taurursodiol); multidisciplinary ALS clinic care; respiratory support; genetic counseling for family members

  • Frontotemporal Dementia

    • Frontotemporal Dementia and/or Amyotrophic Lateral SclerosisAutosomal dominant

      Umbrella term for the genetic frontotemporal dementia and ALS spectrum, including forms caused by C9orf72, TBK1, VCP, SQSTM1 and other genes.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How TBK1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where TBK1 sits. TBK1 and 8 genes near it on chromosome 12, from 63,977,117 to 64,977,116.Chromosome 1212q14.2p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.3364 Mb64.2 Mb64.4 Mb64.6 Mb64.8 MbSRGAP1: 63,843,756–64,162,217, forward strandSRGAP1KICS2: 64,182,929–64,222,309, reverse strandKICS2C12orf56: 64,264,762–64,390,781, reverse strandC12orf56XPOT: 64,404,168–64,451,130, forward strandXPOTTBK1: 64,452,120–64,502,114, forward strandTBK1RASSF3: 64,507,001–64,697,567, forward strandRASSF3GNS: 64,713,442–64,759,449, reverse strandGNSTBC1D30: 64,759,484–64,881,033, forward strandTBC1D30: 64,759,496–64,977,509, forward strandDiagram of TBK1: 21 exons on the forward strand of chromosome 12Exon 2: 5 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 8: 5 known disease-causing sitesExon 9: 4 known disease-causing sitesExon 10: 2 known disease-causing sitesExon 11: 6 known disease-causing sitesExon 12: 6 known disease-causing sitesExon 13: 1 known disease-causing siteExon 14: 1 known disease-causing siteExon 15: 2 known disease-causing sitesExon 16: 2 known disease-causing sitesExon 17: 6 known disease-causing sitesExon 18: 4 known disease-causing sitesExon 19: 2 known disease-causing sitesExon 1: 64,452,120–64,452,187, 68 basesExon 2: 64,455,840–64,455,957, 118 basesExon 3: 64,460,189–64,460,329, 141 basesExon 4: 64,464,334–64,464,463, 130 basesExon 5: 64,466,901–64,467,082, 182 basesExon 6: 64,474,230–64,474,390, 161 basesExon 7: 64,480,012–64,480,122, 111 basesExon 8: 64,481,842–64,482,021, 180 basesExon 9: 64,484,303–64,484,499, 197 basesExon 10: 64,485,455–64,485,513, 59 basesExon 11: 64,485,926–64,486,017, 92 basesExon 12: 64,488,487–64,488,588, 102 basesExon 13: 64,490,041–64,490,119, 79 basesExon 14: 64,495,483–64,495,604, 122 basesExon 15: 64,495,699–64,495,775, 77 basesExon 16: 64,496,367–64,496,406, 40 basesExon 17: 64,496,949–64,497,050, 102 basesExon 18: 64,497,163–64,497,259, 97 basesExon 19: 64,497,648–64,497,754, 107 basesExon 20: 64,497,968–64,498,039, 72 basesExon 21: 64,501,330–64,502,114, 785 bases15101520215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3 kb of the gene's 50 kb; 2,190 of those bases code for the protein.

How a genome test reads TBK1

74

positions in TBK1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 50 kb of TBK1, introns included, not only the 3 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). TBK1 gene: TANK binding kinase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/tbk1

Vancouver

Dante Labs. TBK1 gene: TANK binding kinase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tbk1

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