TRPC6 Chromosome 11

Transient receptor potential cation channel subfamily C member 6

83 variants 35 Drug Response 48 Health Risk

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What This Gene Does

The protein encoded by this gene forms a receptor-activated calcium channel in the cell membrane. The channel is activated by diacylglycerol and is thought to be under the control of a phosphatidylinositol second messenger system. Activation of this channel occurs independently of protein kinase C and is not triggered by low levels of intracellular calcium. Defects in this gene are a cause of focal segmental glomerulosclerosis 2 (FSGS2). [provided by RefSeq, Mar 2009]

Gene Info

Gene Group

"Transient receptor potential cation channels|Ankyrin repeat domain containing|MicroRNA protein coding host genes"

Locus Type

gene with protein product

Location

11q22.1

Ensembl

ENSG00000137672

Associated Conditions (10)

Corticosteroids response

Prednisolone response

Focal segmental glomerulosclerosis 2

Inborn genetic diseases

Sarcoma

Cervical cancer

TRPC6-related disorder

Focal segmental glomerulosclerosis

Kidney disorder

Nephrotic syndrome

Key Variants

RS1231955948

drug response

Corticosteroids response, Corticosteroids response

Drug Response

RS1859343311

drug response

Corticosteroids response, Corticosteroids response

Drug Response

RS200841275

drug response

Corticosteroids response, Corticosteroids response

Drug Response

RS878853179

drug response

Prednisolone response, Prednisolone response

Drug Response

RS878853180

drug response

Prednisolone response, Prednisolone response

Drug Response

RS878853181

drug response

Prednisolone response, Prednisolone response

Drug Response

RS878853182

drug response

Prednisolone response, Prednisolone response

Drug Response

RS878853183

drug response

Prednisolone response, Prednisolone response

Drug Response

RS878853184

drug response

Prednisolone response, Prednisolone response

Drug Response

RS878853185

drug response

Prednisolone response, Prednisolone response

Drug Response

RS878853186

drug response

Prednisolone response, Prednisolone response

Drug Response

RS878853187

drug response

Prednisolone response, Prednisolone response

Drug Response

All Variants (83)

RSID	Category	Clinical Significance	Conditions
RS201051533	Health Risk	Conflicting classifications of pathogenicity	Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS201643083	Health Risk	Conflicting classifications of pathogenicity	Focal segmental glomerulosclerosis 2, Inborn genetic diseases, Focal segmental glomerulosclerosis 2
RS2497323448	Health Risk	Conflicting classifications of pathogenicity	Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS745717503	Health Risk	Conflicting classifications of pathogenicity	Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS750525727	Health Risk	Conflicting classifications of pathogenicity	Focal segmental glomerulosclerosis, TRPC6-related disorder, Focal segmental glomerulosclerosis 2
RS751323115	Health Risk	Conflicting classifications of pathogenicity	Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS754919065	Health Risk	Conflicting classifications of pathogenicity	TRPC6-related disorder, Inborn genetic diseases, TRPC6-related disorder
RS755825482	Health Risk	Conflicting classifications of pathogenicity	Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS768210838	Health Risk	Conflicting classifications of pathogenicity	Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS1165923760	Health Risk	Likely pathogenic	—
RS1218485537	Health Risk	Likely pathogenic	Focal segmental glomerulosclerosis, Focal segmental glomerulosclerosis
RS1451194842	Health Risk	Likely pathogenic	Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS1565206758	Health Risk	Likely pathogenic	—
RS1858816107	Health Risk	Likely pathogenic	Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS1860201767	Health Risk	Likely pathogenic	Nephrotic syndrome, Focal segmental glomerulosclerosis 2, Nephrotic syndrome
RS2496173240	Health Risk	Likely pathogenic	Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS2496173855	Health Risk	Likely pathogenic	Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS2496224973	Health Risk	Likely pathogenic	Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS2496225413	Health Risk	Likely pathogenic	Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS2496225710	Health Risk	Likely pathogenic	—
RS2496225722	Health Risk	Likely pathogenic	—
RS2497277391	Health Risk	Likely pathogenic	Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS2497277601	Health Risk	Likely pathogenic	Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS2497323385	Health Risk	Likely pathogenic	Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS2497337197	Health Risk	Likely pathogenic	Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS121434390	Health Risk	Pathogenic	Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS121434392	Health Risk	Pathogenic	Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS121434394	Health Risk	Pathogenic	Focal segmental glomerulosclerosis 2, Nephrotic syndrome, TRPC6-related disorder
RS1591517912	Health Risk	Pathogenic	Nephrotic syndrome, Focal segmental glomerulosclerosis 2, TRPC6-related disorder
RS1858816064	Health Risk	Pathogenic	Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS1858817266	Health Risk	Pathogenic	—
RS121434395	Health Risk	Pathogenic/Likely pathogenic	Focal segmental glomerulosclerosis 2, Inborn genetic diseases, Focal segmental glomerulosclerosis 2
RS869025541	Health Risk	Pathogenic/Likely pathogenic	Nephrotic syndrome, Focal segmental glomerulosclerosis 2, TRPC6-related disorder

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