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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TRPC6
transient receptor potential cation channel subfamily C member 6
Chromosome 11 Β· 11q22.1
NCBI Gene: 7225Ensembl: ENSG00000137672.14HGNC: HGNC:12338UniProt: Q9Y210
231PubMed Papers
21Diseases
0Drugs
33Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytoplasmpositive regulation of calcium ion transportprotein homodimerization activityinositol 1,4,5 trisphosphate bindingfamilial idiopathic steroid-resistant nephrotic syndromefocal segmental glomerulosclerosisnephrotic syndromeProteinuria
✦AI Summary

TRPC6 encodes a calcium-permeable non-selective cation channel that forms receptor-activated channels in various tissues including brain, smooth muscle, kidney, and immune cells 1. The channel exhibits a characteristic doubly rectifying current-voltage relationship and is six times more permeable to calcium than sodium 1. TRPC6 is directly activated by the second messenger diacylglycerol (DAG) and regulated by tyrosine or serine phosphorylation, with extracellular calcium having inhibitory effects while intracellular calcium/calmodulin provides potentiating effects 1. Structurally, the channel contains both inhibitory and activating calcium-binding sites that couple intracellular calcium concentrations to basal channel activity 2. TRPC6 plays critical roles in kidney function as an essential component of the podocyte slit diaphragm architecture 1. Gain-of-function mutations in TRPC6 cause familial focal segmental glomerulosclerosis (FSGS) by allosterically abolishing the inhibitory effects of intracellular calcium 2 3. In diabetic kidney disease, TRPC6 mediates calpain activation, which impairs podocyte autophagy and accelerates kidney injury 4. The channel is also implicated in cardiovascular regulation, with genetic variants associated with daytime napping behavior and cardiometabolic outcomes 5. TRPC6 represents a promising therapeutic target for kidney diseases, with structure-based drug design efforts underway 2 6.

Sources cited
1
TRPC6 is a calcium-permeable non-selective cation channel with tissue distribution and basic electrophysiological properties
PMID: 17217054
2
Structural mechanism of calcium regulation and pathogenic effects of gain-of-function mutations in FSGS
PMID: 35051376
3
TRPC6 mutations cause FSGS and channel's role in podocyte slit diaphragm function
PMID: 20395377
4
TRPC6's role in diabetic kidney disease through calpain-mediated autophagy impairment
PMID: 37678257
5
Genetic association of TRPC6 variants with daytime napping and cardiometabolic health
PMID: 33568662
6
TRPC6 as a therapeutic target for glomerular diseases including FSGS
PMID: 36007181
Disease Associationsβ“˜21
familial idiopathic steroid-resistant nephrotic syndromeOpen Targets
0.82Strong
focal segmental glomerulosclerosisOpen Targets
0.81Strong
nephrotic syndromeOpen Targets
0.46Moderate
ProteinuriaOpen Targets
0.37Weak
smoking initiationOpen Targets
0.37Weak
kidney failureOpen Targets
0.37Weak
genetic disorderOpen Targets
0.34Weak
risk-taking behaviourOpen Targets
0.30Weak
immune system diseaseOpen Targets
0.30Weak
poisoningOpen Targets
0.30Weak
Abruptio PlacentaeOpen Targets
0.29Weak
preeclampsiaOpen Targets
0.25Weak
Abnormality of the skeletal systemOpen Targets
0.25Weak
hyperemesis gravidarumOpen Targets
0.21Weak
kidney diseaseOpen Targets
0.17Weak
hypertension, pregnancy-inducedOpen Targets
0.15Weak
colorectal adenomaOpen Targets
0.10Suggestive
Alzheimer diseaseOpen Targets
0.09Suggestive
metabolic syndromeOpen Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
Focal segmental glomerulosclerosis 2UniProt
Pathogenic Variants33
NM_004621.6(TRPC6):c.2665C>A (p.Gln889Lys)Pathogenic
Focal segmental glomerulosclerosis 2|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 889
NM_004621.6(TRPC6):c.2683C>T (p.Arg895Cys)Pathogenic
Focal segmental glomerulosclerosis 2|not provided|Nephrotic syndrome|TRPC6-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 895
NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp)Pathogenic
Nephrotic syndrome|not provided|Focal segmental glomerulosclerosis 2|TRPC6-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 175
NM_004621.6(TRPC6):c.2689G>A (p.Glu897Lys)Pathogenic
Focal segmental glomerulosclerosis 2|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 897
NM_004621.6(TRPC6):c.524G>A (p.Arg175Gln)Likely pathogenic
Focal segmental glomerulosclerosis 2|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 175
NM_004621.6(TRPC6):c.2684G>T (p.Arg895Leu)Pathogenic
Nephrotic syndrome|Focal segmental glomerulosclerosis 2|TRPC6-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 895
NM_004621.6(TRPC6):c.2665del (p.Gln889fs)Likely pathogenic
Focal segmental glomerulosclerosis 2
β˜…β˜†β˜†β˜†2024β†’ Residue 889
NM_004621.6(TRPC6):c.2578_2581dup (p.Arg861fs)Likely pathogenic
Focal segmental glomerulosclerosis 2
β˜…β˜†β˜†β˜†2024β†’ Residue 861
NM_004621.6(TRPC6):c.1753_1754del (p.Lys585fs)Likely pathogenic
Focal segmental glomerulosclerosis 2
β˜…β˜†β˜†β˜†2024β†’ Residue 585
NM_004621.6(TRPC6):c.1540del (p.Trp514fs)Likely pathogenic
Focal segmental glomerulosclerosis 2
β˜…β˜†β˜†β˜†2024β†’ Residue 514
NM_004621.6(TRPC6):c.129C>A (p.Cys43Ter)Likely pathogenic
Focal segmental glomerulosclerosis 2
β˜…β˜†β˜†β˜†2024β†’ Residue 43
NM_004621.6(TRPC6):c.1195C>T (p.Arg399Ter)Pathogenic
Focal segmental glomerulosclerosis 2
β˜…β˜†β˜†β˜†2024β†’ Residue 399
NM_004621.6(TRPC6):c.946-1G>CLikely pathogenic
Focal segmental glomerulosclerosis 2
β˜…β˜†β˜†β˜†2024
NM_004621.6(TRPC6):c.1891_1894del (p.Val631fs)Likely pathogenic
Focal segmental glomerulosclerosis 2
β˜…β˜†β˜†β˜†2023β†’ Residue 631
NM_004621.6(TRPC6):c.430G>C (p.Glu144Gln)Likely pathogenic
Focal segmental glomerulosclerosis 2
β˜…β˜†β˜†β˜†2023β†’ Residue 144
NM_004621.6(TRPC6):c.991G>A (p.Gly331Arg)Likely pathogenic
Focal segmental glomerulosclerosis 2
β˜…β˜†β˜†β˜†2023β†’ Residue 331
NM_004621.6(TRPC6):c.329A>G (p.Asn110Ser)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 110
NM_004621.6(TRPC6):c.1758G>A (p.Trp586Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 586
NM_004621.6(TRPC6):c.335C>A (p.Pro112Gln)Pathogenic
Focal segmental glomerulosclerosis 2
β˜…β˜†β˜†β˜†2023β†’ Residue 112
NM_004621.6(TRPC6):c.2619_2626del (p.Asp873fs)Likely pathogenic
Focal segmental glomerulosclerosis 2
β˜…β˜†β˜†β˜†2023β†’ Residue 873
View on ClinVar β†—
Related Genes
ITPR3Protein interaction98%NPHS2Protein interaction97%CD2APProtein interaction94%INF2Protein interaction93%PRKG1Protein interaction91%PRKG2Protein interaction91%
Tissue Expression6 tissues
Lung
100%
Ovary
15%
Bone Marrow
14%
Heart
8%
Brain
5%
Liver
1%
Gene Interaction Network
Click a node to explore
TRPC6ITPR3NPHS2CD2APINF2PRKG1PRKG2
PROTEIN STRUCTURE
Preparing viewer…
PDB6UZ8 Β· 2.84 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.71LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.56 [0.44–0.71]
RankingsWhere TRPC6 stands among ~20K protein-coding genes
  • #1,749of 20,598
    Most Researched231 Β· top 10%
  • #1,716of 5,498
    Most Pathogenic Variants33
  • #5,416of 17,882
    Most Constrained (LOEUF)0.71
Genes detectedTRPC6
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Structural mechanism of human TRPC3 and TRPC6 channel regulation by their intracellular calcium-binding sites.
PMID: 35051376
Neuron Β· 2022
1.00
2
Non-transferrin-bound iron transporters.
PMID: 30316781
Free Radic Biol Med Β· 2019
0.90
3
Single-Cell RNA Sequencing Delineates Renal Anti-Fibrotic Mechanisms Mediated by TRPC6 Inhibition.
PMID: 40525246
Adv Sci (Weinh) Β· 2025
0.80
4
TRPC6.
PMID: 17217054
Handb Exp Pharmacol Β· 2007
0.80
5
Podocyte Injury in Diabetic Kidney Disease in Mouse Models Involves TRPC6-mediated Calpain Activation Impairing Autophagy.
PMID: 37678257
J Am Soc Nephrol Β· 2023
0.70