TRPC3

transient receptor potential cation channel subfamily C member 3

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000138741
UniProt:
Q13507
OMIM:
602345

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.25) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-0.67) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (robust z=2.26, ciliated=54.9%) PMID:26595381

Phenotypes

Mouse phenotype:
preweaning lethality, complete penetrance, abnormal gait, abnormal locomotor activation, abnormal forelimb morphology, cornea vascularization, increased startle reflex, increased mean corpuscular volume, limb grasping, decreased circulating amylase level, abnormal bone mineralization, abnormal response to new environment, increased circulating iron level, increased lean body mass
Human ciliopathy phenotype:
Spinocerebellar ataxia type 41

Subcellular localization

No ciliary localization reported (cilia-associated gene).

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Cardiac & muscle development
  • Transcription regulation

Function

Mutations in the TRPC3 gene cause Spinocerebellar Ataxia (PMID: 25477146).