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FLASH GENE

Symbol

TRPC3

contributors: mct/pgu - updated : 28-08-2020

HGNC name	transient receptor potential cation channel, subfamily C, member 3
HGNC id	12335

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

SCA41

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   enhanced expression in type 2 diabete mellitus patients constitutional       loss of function TRPC3 deficiency inhibited high salt-induced cardiac hypertrophy

Susceptibility

Variant & Polymorphism

Candidate gene	as an emerging candidate protein implicated in various forms of ataxia in humans
Marker
Therapy target
	System Type Disorder Pubmed cardiovascular aquired heart failure pharmacologic inhibitors of TRPC channels might be a strategy for attenuating local Ca2+ signals involved in pathologic cardiac hypertrophy or failure cardiovascular rythm   TRPC3 represents a promising target to prevent conduction disturbances cardiovascular aquired heart failure may represent a novel target for preventing high salt-induced cardiac damage miscelleaneous urinary   TRPC3 might be a promising target for autosomal dominant polycystic kidney disease (ADPKD) treatment

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