TRPC6 gene

transient receptor potential cation channel subfamily C member 6

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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.

From NCBI Gene:

  • Focal segmental glomerulosclerosis 2

From UniProt:

Focal segmental glomerulosclerosis 2 (FSGS2): 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. [MIM:603965]

Cytogenetic Location: 11q22.1, which is the long (q) arm of chromosome 11 at position 22.1

Molecular Location: base pairs 101,451,470 to 101,584,018 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11q22.1, which is the long (q) arm of chromosome 11 at position 22.1
  • FSGS2
  • TRP6