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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 7.1.0)

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 several structures, including 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 1,
  • expressed sequence AI326283,
  • RIKEN cDNA B930008N24 gene,
  • Ttbk1,
  • Ttbk2,
  • RIKEN cDNA 2610507N02 gene,
  • MGI:2138912,
  • 2610507N02Rik,
  • TTK,
  • AI326283,
  • tau tubulin kinase 2,
  • MGI:1921460,
  • MGI:2443971,
  • B930008N24Rik
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2 Involved In Mutations

Trail: ProteinCodingGene

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Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

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Canonical gene --> Transcripts in specific strains.

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Function

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3 Pathways

Trail: ProteinCodingGene

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Phenotype

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