TRPC6 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | TRPC6 |
| Official Name | transient receptor potential cation channel subfamily C member 6 [Source:HGNC Symbol;Acc:HGNC:12338] |
| Ensembl ID | ENSG00000137672 |
| Bio databases IDs | |
| Aliases | transient receptor potential cation channel subfamily C member 6 |
| Synonyms | FSGS2, LLHWJM002, LLHWJM003, LLHWJM004, mtrp6, transient receptor potential cation channel subfamily C member 6, transient receptor potential cation channel, subfamily C, member 6, TRP-6, TRPC6 isoform 1, TRRP6 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TRPC6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ankyrin repeats (many copies)
- Ion transport protein
- calcium channel
- actinin binding
- Ankyrin repeats (3 copies)
- clathrin binding
- store-operated calcium channel
- protein binding
- ion channel
- ATPase binding
- binding protein
- cytoplasmic domain
- actin binding
- protein homodimerization
- Transient receptor ion channel II
- transient-receptor-potential calcium channel protein
- Transient Receptor Potential channel, Vanilloid subfamily (TRPV)
- Polycystin cation channel
- cation channel
Pathways
Biological processes and signaling networks where the TRPC6 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- colorectal cancer
- pulmonary hypertension
- heart failure
- focal segmental glomerulosclerosis type 2
- Alzheimer disease
- hereditary disorder
- hypertension
- dilated cardiomyopathy
- colorectal adenoma
- colorectal adenoma formation
role in cell
- growth
- proliferation
- expression in
- depolarization
- activation in
- phosphorylation in
- cell viability
- formation
- differentiation
- intermediary chemoattraction
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- microsomal fraction
- Cytoplasm
- cell surface
- cellular membrane
- intercellular junctions
- apical membrane
- basolateral membrane
- synaptosomes
- pedicels
- membrane processes
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TRPC6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cation transport
- positive regulation of calcium ion transport
- calcium ion transmembrane transport
- cytosolic calcium ion homeostasis
- positive regulation of ion transmembrane transporter activity
- single fertilization
- elevation of cytosolic calcium ion concentration
Cellular Component
Where in the cell the gene product is active
- slit diaphragm
- cytoplasm
- membrane
- cation channel complex
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- store-operated calcium channel activity
- protein homodimerization activity
- protein binding
- calcium channel activity
- cation channel activity
- inositol 1,4,5 trisphosphate binding