Homo sapiens Protein: TRPC6 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-68845.7 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | TRPC6 | ||||||||||||||||||||||
Protein Name | transient receptor potential cation channel, subfamily C, member 6 | ||||||||||||||||||||||
Synonyms | FSGS2; TRP6; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000353687 | ||||||||||||||||||||||
InnateDB Gene | IDBG-68841 (TRPC6) | ||||||||||||||||||||||
Protein Structure |
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UniProt Annotation | |||||||||||||||||||||||
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. | ||||||||||||||||||||||
Subcellular Localization | Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. | ||||||||||||||||||||||
Disease Associations | Focal 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:0000269PubMed:15879175, ECO:0000269PubMed:15924139, ECO:0000269PubMed:21734084}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Expressed primarily in placenta, lung, spleen, ovary and small intestine. Expressed in podocytes and is a component of the glomerular slit diaphragm. {ECO:0000269PubMed:15924139}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR002110
Ankyrin repeat IPR002153 Transient receptor potential channel, canonical IPR005462 Transient receptor potential channel, canonical 6 IPR005821 Ion transport domain IPR013122 Polycystin cation channel, PKD1/PKD2 IPR013555 Transient receptor ion channel domain IPR016024 Armadillo-type fold IPR020683 Ankyrin repeat-containing domain |
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PFAM |
PF00023
PF13606 PF00520 PF08016 PF08344 PF11929 PF12796 |
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PRINTS |
PR01415
PR01097 PR01647 |
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PIRSF | |||||||||||||||||||||||
SMART |
SM00248
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q9Y210 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q9Y210 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 7225 | ||||||||||||||||||||||
UniGene | Hs.622646 | ||||||||||||||||||||||
RefSeq | |||||||||||||||||||||||
HUGO | HGNC:12338 | ||||||||||||||||||||||
OMIM | 603652 | ||||||||||||||||||||||
CCDS | |||||||||||||||||||||||
HPRD | 04710 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AF080394 AJ006276 AJ007018 AJ271066 AJ271067 AJ271068 BC093658 BC093660 | ||||||||||||||||||||||
GenPept | AAC63289 AAH93658 AAH93660 CAA06943 CAC01684 CAC01685 CAC01686 CAC06090 | ||||||||||||||||||||||