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Gene

TTBK2

tau tubulin kinase 2

Summary

Cytogenetic location
15q15.2
Coordinates
Chromosome 15: 42,738,730–42,920,778 (GRCh38)
Exons
15 exons across 182 kb
Protein
1,244 amino acids
Inheritance
Autosomal dominant
Also known as
KIAA0847
Previous symbols
SCA11
MANE Select transcript
ENST00000267890.11NM_173500.4
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 report relevant to this gene

  • Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)

    • Autosomal Dominant Cerebellar AtaxiaAutosomal dominant

      A group of dominantly inherited ataxias, including SCA1, SCA2, SCA3 (Machado-Joseph disease), SCA6, SCA7, SCA17, SCA27B and DRPLA, caused by repeat expansions or point variants in genes such as ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 and FGF14.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Genetic counselling and presymptomatic testing for relatives, physiotherapy and symptom management; some forms, such as SCA27B, may respond to specific medication.

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 TTBK2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 15, with a bracket where TTBK2 sits. TTBK2 and 19 genes near it on chromosome 15, from 42,329,754 to 43,329,753.Chromosome 1515q15.2p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.342.4 Mb42.6 Mb42.8 Mb43 Mb43.2 MbGANC: 42,273,196–42,353,666, forward strandGANC: 42,348,103–42,412,317, forward strandCAPN3: 42,359,494–42,412,949, forward strandCAPN3ZNF106: 42,412,823–42,491,150, reverse strandZNF106SNAP23: 42,491,233–42,545,358, forward strandSNAP23: 42,497,395–42,548,786, reverse strandLRRC57: 42,534,627–42,548,802, reverse strandLRRC57HAUS2: 42,548,828–42,572,263, forward strandHAUS2STARD9: 42,575,574–42,720,998, forward strandSTARD9CDAN1: 42,723,544–42,737,156, reverse strandCDAN1TTBK2: 42,738,730–42,920,778, reverse strandTTBK2UBR1: 42,942,897–43,106,141, reverse strandUBR1TMEM62: 43,123,279–43,185,144, forward strandTMEM62: 43,179,715–43,206,481, reverse strandCCNDBP1: 43,185,118–43,197,177, forward strandCCNDBP1EPB42: 43,191,351–43,221,053, reverse strandEPB42TGM5: 43,232,590–43,266,933, reverse strandTGM5TGM7: 43,276,271–43,302,255, reverse strandTGM7LCMT2: 43,323,649–43,330,582, reverse strandLCMT2MAPDA: 43,329,654–43,355,418, forward strandMAPDADiagram of TTBK2: 15 exons on the reverse strand of chromosome 15Exon 13: 1 known disease-causing siteExon 12: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 15: 42,738,730–42,746,257, 7,528 basesExon 14: 42,751,974–42,753,247, 1,274 basesExon 13: 42,775,135–42,775,723, 589 basesExon 12: 42,777,031–42,777,242, 212 basesExon 11: 42,783,419–42,783,635, 217 basesExon 10: 42,794,644–42,794,801, 158 basesExon 9: 42,810,614–42,810,739, 126 basesExon 8: 42,811,688–42,811,780, 93 basesExon 7: 42,817,032–42,817,097, 66 basesExon 6: 42,827,928–42,828,032, 105 basesExon 5: 42,829,938–42,830,078, 141 basesExon 4: 42,840,360–42,840,433, 74 basesExon 3: 42,872,611–42,872,758, 148 basesExon 2: 42,878,549–42,878,684, 136 basesExon 1: 42,920,438–42,920,778, 341 bases15141210864215′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 11.2 kb of the gene's 182 kb; 3,735 of those bases code for the protein.

How a genome test reads TTBK2

4

positions in TTBK2 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 182 kb of TTBK2, introns included, not only the 11.2 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.). TTBK2 gene: tau tubulin kinase 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/ttbk2

Vancouver

Dante Labs. TTBK2 gene: tau tubulin kinase 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ttbk2

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