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MGP003204

UniProt Annotations

Entry Information
Gene Nametransient receptor potential cation channel, subfamily C, member 6
Protein EntryTRPC6_HUMAN
UniProt IDQ9Y210
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9Y210-1; Sequence=Displayed; Name=2; IsoId=Q9Y210-2; Sequence=VSP_006572; Name=3; IsoId=Q9Y210-3; Sequence=VSP_006573;
DiseaseFocal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965]: 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. {ECO:0000269|PubMed:15879175, ECO:0000269|PubMed:15924139, ECO:0000269|PubMed:21734084}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionThought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Activated by diacylglycerol (DAG) in a membrane-delimited fashion, independently of protein kinase C. Seems not to be activated by intracellular calcium store depletion.
InteractionP20591:MX1; NbExp=4; IntAct=EBI-929362, EBI-929476;
PtmPhosphorylated by FYN, leading to an increase of TRPC6 channel activity. {ECO:0000250}.
SimilarityBelongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC6 sub-subfamily. {ECO:0000305}.
SimilarityContains 4 ANK repeats. {ECO:0000255|PROSITE- ProRule:PRU00023}.
Subcellular LocationMembrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
SubunitInteracts with MX1 and RNF24. {ECO:0000269|PubMed:15757897, ECO:0000269|PubMed:17850865}.
Tissue SpecificityExpressed primarily in placenta, lung, spleen, ovary and small intestine. Expressed in podocytes and is a component of the glomerular slit diaphragm. {ECO:0000269|PubMed:15924139}.
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