Entity Details

Primary name TRPC3
Entity type gene
Source Source Link

Details

PrimaryID7222
RefseqGeneNG_030368
SymbolTRPC3
Nametransient receptor potential cation channel subfamily C member 3
Chromosome4
Location4q27
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-12-10
ModificationDate2021-06-13

Ontological Relatives

UniProt IDsTRPC3_HUMAN

GO terms

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GOName
GO:0005262 calcium channel activity
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006816 calcium ion transport
GO:0006828 manganese ion transport
GO:0007338 single fertilization
GO:0007602 phototransduction
GO:0010524 positive regulation of calcium ion transport into cytosol
GO:0015279 store-operated calcium channel activity
GO:0030168 platelet activation
GO:0033198 response to ATP
GO:0034703 cation channel complex
GO:0051480 regulation of cytosolic calcium ion concentration
GO:0051592 response to calcium ion
GO:0070588 calcium ion transmembrane transport
GO:0070679 inositol 1,4,5 trisphosphate binding
GO:1903244 positive regulation of cardiac muscle hypertrophy in response to stress

Diseases

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Disease IDSourceNameDescription
616410 OMIMSpinocerebellar ataxia 41 (SCA41)A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. The disease is caused by variants affecting the gene represented in this entry.