ID:TRPC6_HUMAN DESCRIPTION: RecName: Full=Short transient receptor potential channel 6; Short=TrpC6; AltName: Full=Transient receptor protein 6; Short=TRP-6; FUNCTION: Thought 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. SUBUNIT: Interacts with MX1 and RNF24. INTERACTION: P20591:MX1; NbExp=4; IntAct=EBI-929362, EBI-929476; SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Probable). TISSUE SPECIFICITY: Expressed primarily in placenta, lung, spleen, ovary and small intestine. Expressed in podocytes and is a component of the glomerular slit diaphragm. PTM: Phosphorylated by FYN, leading to an increase of TRPC6 channel activity (By similarity). DISEASE: Defects in TRPC6 are the cause of focal segmental glomerulosclerosis type 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 edema. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. SIMILARITY: Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC6 sub-subfamily. SIMILARITY: Contains 4 ANK repeats. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TRPC6";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00520 - Ion transport protein PF08016 - Polycystin cation channel PF08344 - Transient receptor ion channel II PF12796 - Ankyrin repeats (3 copies)
ModBase Predicted Comparative 3D Structure on Q9Y210
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006811 ion transport GO:0006812 cation transport GO:0006816 calcium ion 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:0030168 platelet activation GO:0030182 neuron differentiation GO:0032414 positive regulation of ion transmembrane transporter activity GO:0045666 positive regulation of neuron differentiation GO:0050774 negative regulation of dendrite morphogenesis GO:0051480 regulation of cytosolic calcium ion concentration GO:0051928 positive regulation of calcium ion transport GO:0055085 transmembrane transport GO:0070301 cellular response to hydrogen peroxide GO:0070588 calcium ion transmembrane transport GO:0071456 cellular response to hypoxia