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
RS1231955948	Drug Response	drug response	Corticosteroids response, Corticosteroids response
RS1859343311	Drug Response	drug response	Corticosteroids response, Corticosteroids response
RS200841275	Drug Response	drug response	Corticosteroids response, Corticosteroids response
RS878853179	Drug Response	drug response	Prednisolone response, Prednisolone response
RS878853180	Drug Response	drug response	Prednisolone response, Prednisolone response
RS878853181	Drug Response	drug response	Prednisolone response, Prednisolone response
RS878853182	Drug Response	drug response	Prednisolone response, Prednisolone response
RS878853183	Drug Response	drug response	Prednisolone response, Prednisolone response
RS878853184	Drug Response	drug response	Prednisolone response, Prednisolone response
RS878853185	Drug Response	drug response	Prednisolone response, Prednisolone response
RS878853186	Drug Response	drug response	Prednisolone response, Prednisolone response
RS878853187	Drug Response	drug response	Prednisolone response, Prednisolone response
RS878853188	Drug Response	drug response	Prednisolone response, Prednisolone response
RS878853189	Drug Response	drug response	Prednisolone response, Prednisolone response
RS878853190	Drug Response	drug response	Prednisolone response, Prednisolone response
RS878853191	Drug Response	drug response	Prednisolone response, Prednisolone response
RS878853192	Drug Response	drug response	Prednisolone response, Prednisolone response
RS878853193	Drug Response	drug response	Prednisolone response, Prednisolone response
RS878853194	Drug Response	drug response	Prednisolone response, Prednisolone response
RS878853195	Drug Response	drug response	Prednisolone response, Prednisolone response
RS878853196	Drug Response	drug response	Prednisolone response, Prednisolone response
RS878853197	Drug Response	drug response	Prednisolone response, Prednisolone response
RS878853198	Drug Response	drug response	Prednisolone response, Prednisolone response
RS878853199	Drug Response	drug response	Prednisolone response, Prednisolone response
RS878853200	Drug Response	drug response	Prednisolone response, Prednisolone response
RS878853201	Drug Response	drug response	Prednisolone response, Prednisolone response
RS878853202	Drug Response	drug response	Prednisolone response, Prednisolone response
RS878853203	Drug Response	drug response	Prednisolone response, Prednisolone response
RS878853204	Drug Response	drug response	Prednisolone response, Prednisolone response
RS878853205	Drug Response	drug response	Prednisolone response, Prednisolone response
RS878853206	Drug Response	drug response	Prednisolone response, Prednisolone response
RS878853207	Drug Response	drug response	Prednisolone response, Prednisolone response
RS878853208	Drug Response	drug response	Prednisolone response, Prednisolone response
RS878853209	Drug Response	drug response	Prednisolone response, Prednisolone response
RS878853210	Drug Response	drug response	Prednisolone response, Prednisolone response
RS1036112313	Health Risk	Conflicting classifications of pathogenicity	Focal segmental glomerulosclerosis 2, Inborn genetic diseases, Focal segmental glomerulosclerosis 2
RS117273916	Health Risk	Conflicting classifications of pathogenicity	Focal segmental glomerulosclerosis 2, Inborn genetic diseases, Focal segmental glomerulosclerosis 2
RS121434393	Health Risk	Conflicting classifications of pathogenicity	Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS138155461	Health Risk	Conflicting classifications of pathogenicity	Sarcoma, Cervical cancer, Sarcoma
RS139330011	Health Risk	Conflicting classifications of pathogenicity	Focal segmental glomerulosclerosis 2, TRPC6-related disorder, Inborn genetic diseases
RS146776939	Health Risk	Conflicting classifications of pathogenicity	Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS150033580	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Focal segmental glomerulosclerosis 2, Inborn genetic diseases
RS199747455	Health Risk	Conflicting classifications of pathogenicity	Focal segmental glomerulosclerosis, Inborn genetic diseases, Focal segmental glomerulosclerosis
RS199810047	Health Risk	Conflicting classifications of pathogenicity	Kidney disorder, Focal segmental glomerulosclerosis 2, Kidney disorder
RS199892792	Health Risk	Conflicting classifications of pathogenicity	Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS199945898	Health Risk	Conflicting classifications of pathogenicity	Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS200031940	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Focal segmental glomerulosclerosis 2, Inborn genetic diseases
RS200186406	Health Risk	Conflicting classifications of pathogenicity	Focal segmental glomerulosclerosis 2, Inborn genetic diseases, Focal segmental glomerulosclerosis 2
RS200561342	Health Risk	Conflicting classifications of pathogenicity	—
RS200772226	Health Risk	Conflicting classifications of pathogenicity	Focal segmental glomerulosclerosis 2, Inborn genetic diseases, Focal segmental glomerulosclerosis 2

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