Entity Details

Primary name TRPC6
Entity type gene
Source Source Link

Details

PrimaryID7225
RefseqGeneNG_011476
SymbolTRPC6
Nametransient receptor potential cation channel subfamily C member 6
Chromosome11
Location11q22.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-05
ModificationDate2021-06-13

Ontological Relatives

UniProt IDsTRPC6_HUMAN

GO terms

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GOName
GO:0003779 actin binding
GO:0005261 cation channel activity
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006812 cation transport
GO:0006828 manganese ion transport
GO:0007204 positive regulation of cytosolic calcium ion concentration
GO:0007338 single fertilization
GO:0007568 aging
GO:0010800 positive regulation of peptidyl-threonine phosphorylation
GO:0015279 store-operated calcium channel activity
GO:0016020 membrane
GO:0030168 platelet activation
GO:0030182 neuron differentiation
GO:0030276 clathrin binding
GO:0032414 positive regulation of ion transmembrane transporter activity
GO:0034703 cation channel complex
GO:0036057 slit diaphragm
GO:0042803 protein homodimerization activity
GO:0042805 actinin binding
GO:0045666 positive regulation of neuron differentiation
GO:0050774 negative regulation of dendrite morphogenesis
GO:0051117 ATPase binding
GO:0051480 regulation of cytosolic calcium ion concentration
GO:0051928 positive regulation of calcium ion transport
GO:0070301 cellular response to hydrogen peroxide
GO:0070588 calcium ion transmembrane transport
GO:0070679 inositol 1,4,5 trisphosphate binding
GO:0071456 cellular response to hypoxia

Diseases

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Disease IDSourceNameDescription
603965 OMIMFocal segmental glomerulosclerosis 2 (FSGS2)A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. The disease is caused by variants affecting the gene represented in this entry.