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FLASH GENE
Symbol TRPC3 contributors: mct/pgu - updated : 28-08-2015
HGNC name transient receptor potential cation channel, subfamily C, member 3
HGNC id 12335
ASSOCIATED DISORDERS
corresponding disease(s) SCA41
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
enhanced expression in type 2 diabete mellitus patients
Susceptibility
Variant & Polymorphism
Candidate gene
  • as an emerging candidate protein implicated in various forms of ataxia in humans
  • Marker
    Therapy target
    SystemTypeDisorderPubmed
    cardiovascularaquiredheart failure
    pharmacologic inhibitors of TRPC channels might be a strategy for attenuating local Ca2+ signals involved in pathologic cardiac hypertrophy or failure
    cardiovascularrythm 
    TRPC3 represents a promising target to prevent conduction disturbances
    ANIMAL & CELL MODELS
  • gain-of-function mutation (T635A) in the transient receptor potential (TRP) channel Trpc3 results in abnormal channel gating and causes cerebellar ataxia in the dominant Moonwalker (Mwk) mouse mutant (
  • double Trpc3/Trpc6 knock-out mice showed hearing impairment, vestibular deficits and defective auditory brain stem responses to high-frequency sounds