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TRPC6

Chr 11q22.1

transient receptor potential cation channel subfamily C member 6

Aliases:
TRP6
MANE:
ENST00000344327.8
OMIM: 603652 ↗NCBI: 7225 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Proteinuric renal disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Unexplained kidney failure in young people

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • familial idiopathic steroid-resistant nephrotic syndrome

    0.82

  • focal segmental glomerulosclerosis

    0.78

  • nephrotic syndrome

    0.46

  • Proteinuria

    0.37

  • kidney failure

    0.37

  • smoking initiation

    0.34

  • hereditary disease

    0.34

  • immune system disorder

    0.31

  • poisoning

    0.31

  • placental abruption

    0.29

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Short transient receptor potential channel 6

Non-selective, calcium-permeable cation channel (PubMed:19936226, PubMed:23291369, PubMed:26892346, PubMed:9930701). Mediates calcium entry following G(q)-coupled receptor or receptor tyrosine kinase activation, which triggers phospholipase C (PLC)-mediated hydrolysis of phosphatidylinositides and production of diacylglycerol (DAG) that directly activates TRPC6 (PubMed:26892346). Does not appear to be activated by depletion of intracellular calcium stores (PubMed:9930701). Mediates depolarization of intrinsically photosensitive retinal ganglion cells (ipRGCs) in response to light-induced melanopsin (OPN4)-mediated phototransduction via G(q)-PLC signaling, likely by forming heteromeric TRPC6-TRPC7 channels (By similarity)

Diseases associated with TRPC6

Curated MONDO disease pages that list TRPC6 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.