TTC12

tetratricopeptide repeat domain 12

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000149292
UniProt:
Q9H892
OMIM:
610732
Synonyms:
FLJ13859, FLJ20535, TPARM

Ciliogenesis screen results (4 screens)

  • Kim2016: No effect
  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: Joubert Candidate / Ciliogenesis Defect (robust z=-2.41, ciliated=19.2%) PMID:26595381

Phenotypes

Mouse phenotype:
decreased locomotor activity, increased anxiety-related response

Ciliopathy associations

  • Primary Ciliary Dyskinesia

References: PMID:31978331, PMID:36273201

Subcellular localization

flagella

References: PMID:23300604, PMID:31978331

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Reproduction & sperm
  • Cell migration & adhesion

Function

Centrosome component (23300604). Involved in the assembly and/or transport of axonemal dynein arms. Loss of function affects both ODA and IDA. In paramecia, knockdown led to the absence of dynein arms (31978331).