TRPC4 Gene
Transient Receptor Potential Cation Channel Subfamily C Member 4
Gene Information Card
| Symbol | TRPC4 |
|---|---|
| Full Name | Transient Receptor Potential Cation Channel Subfamily C Member 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 13q13.3 |
| NCBI Gene ID | 7223 ncbi.nlm.nih.gov/gene/7223 |
| Ensembl ID | ENSG00000100991 |
| UniProt ID | Q9UBN4 |
| OMIM ID | 603651 |
| HGNC ID | 12336 |
| Aliases | TRP4, HTRP4, TRPC4A, TRPC4B |
Description
TRPC4 encodes a member of the transient receptor potential (TRP) family of ion channels, specifically the canonical subfamily C. The protein forms a non-selective cation channel permeable to calcium and sodium, activated by G-protein-coupled receptors and receptor tyrosine kinases via phospholipase C signaling. TRPC4 is involved in endothelial permeability, smooth muscle contraction, and neuronal excitability. Alternative splicing generates multiple isoforms with distinct functional properties.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered TRPC4 expression may disrupt calcium signaling in neurons, contributing to synaptic dysfunction. | ClinVar, NCBI |
| Cardiac hypertrophy | TRPC4-mediated calcium influx promotes pathological cardiac remodeling. | NCBI, OMIM |
| Pulmonary hypertension | Increased TRPC4 expression in pulmonary artery smooth muscle cells enhances vasoconstriction. | NCBI |
| Inflammatory bowel disease | TRPC4 regulates intestinal epithelial barrier function; dysregulation linked to inflammation. | NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Lung | 6.1 | Low |
| Kidney | 4.7 | Low |
| Testis | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression in recombinant systems |
| SH-SY5Y | 9.8 | Neuronal cell line |
| HUVEC | 7.5 | Endothelial cells |
| A549 | 5.2 | Lung epithelial cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1265G>A (p.Arg422His) | Missense | <0.01% | Altered channel gating; potential loss of function |
| c.1784C>T (p.Pro595Leu) | Missense | <0.01% | Reduced calcium permeability |
| c.2410_2412del (p.Phe804del) | In-frame deletion | <0.01% | Impaired membrane trafficking |
Mutation functional classification
Loss of Function (LOF)
p.Arg422His and p.Pro595Leu reduce channel activity or calcium flux.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in TRPC4.
Dominant Negative (DN)
p.Phe804del may exert dominant-negative effects by disrupting channel assembly.
View complete mutation data：
Gene Ontology (GO)
| • calcium channel activity (GO:0005262) | • calcium ion transport (GO:0006816) |
| • integral component of membrane (GO:0016021) | • intracellular signal transduction (GO:0035556) |
| • calcium ion transmembrane transport (GO:0070588) |
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• Phospholipase C-activating G-protein coupled receptor pathway
• Vascular smooth muscle contraction (KEGG: hsa04270)
Protein Summary
TRPC4 is a 977-amino-acid protein with six transmembrane domains, a pore-forming loop, and intracellular N- and C-termini. It functions as a homotetramer or heterotetramer with other TRPC subunits. The channel is activated downstream of phospholipase C, leading to calcium entry and modulation of cellular excitability, contraction, and gene expression. Isoforms TRPC4α and TRPC4β differ in the C-terminal region, affecting regulation by calmodulin and interaction with scaffolding proteins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRPC4 Knockout HEK293 Cell Line | EDJ-KQ3303 | Human | 7223 | Details Get a Quote |
| TRPC4AP Knockout HEK293 Cell Line | EDJ-KQ8423 | Human | 26133 | Details Get a Quote |
| TRPC4 Knockout HeLa Cell Line | EDJ-KQ24890 | Human | 7223 | Details Get a Quote |
| TRPC4AP Knockout A-549 Cell Line | EDJ-KQ34517 | Human | 26133 | Details Get a Quote |
| TRPC4AP Knockout HCT 116 Cell Line | EDJ-KQ34518 | Human | 26133 | Details Get a Quote |
| TRPC4AP Knockout HeLa Cell Line | EDJ-KQ34519 | Human | 26133 | Details Get a Quote |
| TRPC4 Knockout A-549 Cell Line | EDJ-KQ63180 | Human | 7223 | Details Get a Quote |
| TRPC4 Knockout HCT 116 Cell Line | EDJ-KQ71652 | Human | 7223 | Details Get a Quote |
