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Protein Coding Gene : Ttbk2 tau tubulin kinase 2
Primary Identifier  MGI:2155779 Organism  mouse, laboratory
Chromosome  2 NCBI Gene Number  140810
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Enables protein serine/threonine kinase activity. Involved in cilium assembly; hindbrain development; and smoothened signaling pathway. Acts upstream of or within several processes, including embryonic brain development; nervous system development; and positive regulation of non-motile cilium assembly. Located in ciliary base; ciliary transition zone; and microtubule organizing center. Is expressed in nervous system. Human ortholog(s) of this gene implicated in spinocerebellar ataxia type 11. Orthologous to human TTBK2 (tau tubulin kinase 2).
PHENOTYPE: Mice homozygous for a knock-in allele exhibit complete preweaning lethality, decreased embryo size, growth retardation, and incomplete turning. [provided by MGI curators]
  • synonyms:
  • tau tubulin kinase 2,
  • MGI:1921460,
  • expressed sequence AI326283,
  • 2610507N02Rik,
  • TTK,
  • Ttbk1,
  • Ttbk2,
  • MGI:2443971,
  • tau tubulin kinase 1,
  • B930008N24Rik,
  • RIKEN cDNA B930008N24 gene,
  • MGI:2138912,
  • AI326283,
  • RIKEN cDNA 2610507N02 gene
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2 Involved In Mutations

Trail: ProteinCodingGene

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3 Pathways

Trail: ProteinCodingGene

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