Gene: TRPC6

Alternate names for this Gene: FSGS2|TRP6

Gene Summary: 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).

Gene is located in Chromosome: 11

Location in Chromosome : 11q22.1

Description of this Gene: transient receptor potential cation channel subfamily C member 6

Type of Gene: protein-coding

rs2186607 in TRPC6 gene and Adenocarcinoma of large intestine PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs2186607 in TRPC6 gene and Adenoma of large intestine PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs10895140 in TRPC6 gene and Age at menarche PMID 25231870 2014 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2186607 in TRPC6 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs2186607 in TRPC6 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs2186607 in TRPC6 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs2186607 in TRPC6 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs2186607 in TRPC6 gene and Colorectal Carcinoma PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs2186607 in TRPC6 gene and Colorectal Neoplasms PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs1939455 in TRPC6 gene and Duration of sleep PMID 30846698 2019 Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates.

rs121434390 in TRPC6 gene and FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2 PMID 15924139 2005 TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function.

PMID 19458060 2009 TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis.

PMID 20798252 2010 Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.

PMID 19936226 2009 A novel TRPC6 mutation that causes childhood FSGS.

PMID 15879175 2005 A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis.

PMID 23014460 2013 Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis.

PMID 21734084 2011 TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype.

PMID 26892346 2016 TRPC6 G757D Loss-of-Function Mutation Associates with FSGS.

PMID 23291369 2013 New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis.

PMID 22732337 2012 Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.

PMID 21511817 2012 TRPC6 gene variants in Turkish children with steroid-resistant nephrotic syndrome.

rs2186607 in TRPC6 gene and Malignant neoplasm of large intestine PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs2186607 in TRPC6 gene and Malignant tumor of colon PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.