TRPC3 Gene: Transient Receptor Potential Cation Channel Subfamily C Member 3
Key regulator of calcium signaling in neuronal, cardiac, and immune cells
Gene Information Card
| Symbol | TRPC3 |
|---|---|
| Full Name | Transient Receptor Potential Cation Channel Subfamily C Member 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q27 |
| NCBI Gene ID | 7222 ncbi.nlm.nih.gov/gene/7222 |
| Ensembl ID | ENSG00000138771 |
| UniProt ID | Q13507 |
| OMIM ID | 602345 |
| HGNC ID | 12335 |
| Aliases | SCA41, TRP3, hTRP3 |
Description
TRPC3 encodes a member of the transient receptor potential (TRP) family of ion channels. The protein forms a non-selective cation channel permeable to calcium and sodium, activated downstream of phospholipase C (PLC) signaling. TRPC3 is widely expressed in brain, heart, and immune cells, and plays critical roles in neuronal development, cardiac function, and immune responses. Mutations in TRPC3 are associated with spinocerebellar ataxia type 41 (SCA41) and have been implicated in cardiac hypertrophy and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinocerebellar ataxia 41 (SCA41) | Gain-of-function missense mutations (e.g., R762H) increase channel activity, leading to Purkinje cell degeneration and ataxia. | ClinVar, OMIM |
| Cardiac hypertrophy | TRPC3 overexpression or gain-of-function enhances calcium influx in cardiomyocytes, promoting hypertrophic signaling pathways. | NCBI Gene, PubMed |
| Focal segmental glomerulosclerosis | TRPC3 variants may alter calcium signaling in podocytes, contributing to kidney disease. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Lung | 4.1 | Low |
| Liver | 2.0 | Low |
| Kidney | 6.7 | Medium |
| Spleen | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression; used in neuronal calcium signaling studies |
| HEK293 (embryonic kidney) | 9.8 | Moderate; common overexpression model |
| H9c2 (cardiomyoblast) | 11.4 | High; relevant for cardiac hypertrophy research |
| Jurkat (T-cell leukemia) | 5.6 | Low; immune cell signaling |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| R762H | Missense | Rare | Gain-of-function; associated with SCA41 |
| G652A | Missense | Rare | Gain-of-function; linked to cardiac hypertrophy |
| L126P | Missense | Rare | Loss-of-function; reduced channel activity |
| S714F | Missense | Rare | Uncertain significance; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
L126P reduces channel conductance and calcium influx, impairing downstream signaling.
Gain of Function (GOF)
R762H and G652A increase channel open probability, leading to excessive calcium entry and cellular toxicity.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported for TRPC3.
View complete mutation data：
Gene Ontology (GO)
| • calcium channel activity (GO:0005262) | • protein binding (GO:0005515) |
| • plasma membrane (GO:0005886) | • integral component of membrane (GO:0016021) |
| • intracellular signal transduction (GO:0035556) | • calcium ion transmembrane transport (GO:0070588) |
Pathways
• Phospholipase C signaling pathway
• Calcium signaling pathway
• Cardiac muscle contraction
• Neurotrophin signaling pathway
Protein Summary
TRPC3 is a 848-amino acid protein with six transmembrane domains, forming a cation channel that is activated by diacylglycerol (DAG) in a PLC-dependent manner. It assembles as homo- or heterotetramers with other TRPC family members. The protein contains ankyrin repeats in the N-terminal region and a conserved TRP domain near the C-terminus. TRPC3 is essential for calcium homeostasis in excitable and non-excitable cells, and its dysregulation contributes to neurological, cardiac, and renal disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRPC3 Knockout HEK293 Cell Line | EDJ-KQ5967 | Human | 7222 | Details Get a Quote |
| TRPC3 Knockout HeLa Cell Line | EDJ-KQ54694 | Human | 7222 | Details Get a Quote |
| TRPC3 Knockout A-549 Cell Line | EDJ-KQ63179 | Human | 7222 | Details Get a Quote |
| TRPC3 Knockout HCT 116 Cell Line | EDJ-KQ71651 | Human | 7222 | Details Get a Quote |
