TRPM3 Gene
Transient Receptor Potential Cation Channel Subfamily M Member 3
Gene Information Card
| Symbol | TRPM3 |
|---|---|
| Full Name | Transient Receptor Potential Cation Channel Subfamily M Member 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q21.12 |
| NCBI Gene ID | 80036 ncbi.nlm.nih.gov/gene/80036 |
| Ensembl ID | ENSG00000083067 |
| UniProt ID | Q9HCF6 |
| OMIM ID | 608961 |
| HGNC ID | 17992 |
| Aliases | GON-2, LTRPC3, MLSN2, TRPM3b |
Description
TRPM3 encodes a member of the transient receptor potential (TRP) family of ion channels. The protein forms a non-selective cation channel permeable to calcium, sodium, and magnesium. It is activated by heat, chemical ligands (e.g., pregnenolone sulfate), and mechanical stimuli. TRPM3 plays roles in sensory perception, particularly pain and heat sensation, and in insulin secretion from pancreatic beta cells. Alternative splicing generates multiple isoforms with distinct functional properties.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies (NEDHFS) | Gain-of-function mutations in TRPM3 lead to increased channel activity, causing neuronal hyperexcitability. | ClinVar, OMIM #620224 |
| Epileptic encephalopathy, early infantile | De novo missense variants (e.g., p.Val837Met) result in constitutive channel activation, contributing to seizure susceptibility. | ClinVar, OMIM #617826 |
| Cataract 42 | Loss-of-function mutations (e.g., p.Arg985*) impair calcium homeostasis in lens epithelial cells, leading to opacity. | ClinVar, OMIM #618659 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 6.8 | Medium |
| Pancreas | 5.2 | Medium |
| Kidney | 4.1 | Low |
| Testis | 3.5 | Low |
| Lung | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 7.1 | High expression |
| HEK293 (embryonic kidney) | 4.8 | Moderate expression |
| MIN6 (pancreatic beta) | 6.3 | High expression |
| HeLa (cervical carcinoma) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2509G>A (p.Val837Met) | Missense | Rare (0.0004%) | Gain-of-function; increased calcium influx |
| c.2953C>T (p.Arg985*) | Nonsense | Very rare | Loss-of-function; truncated protein |
| c.1910T>C (p.Leu637Pro) | Missense | Not reported | Gain-of-function; altered channel gating |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg985*) lead to truncated, non-functional channels, associated with cataract 42.
Gain of Function (GOF)
Missense mutations (e.g., p.Val837Met, p.Leu637Pro) cause constitutive channel opening, linked to neurodevelopmental disorders and epilepsy.
Dominant Negative (DN)
Not well documented for TRPM3; most pathogenic mutations act via gain- or loss-of-function mechanisms.
View complete mutation data：
Gene Ontology (GO)
| • calcium channel activity (GO:0005262) | • protein binding (GO:0005515) |
| • calcium ion transport (GO:0006816) | • plasma membrane (GO:0005886) |
| • integral component of membrane (GO:0016021) | • perinuclear region of cytoplasm (GO:0048471) |
Pathways
• REACT:111045 – TRP channel activation by inflammatory mediators
• REACT:111046 – Sensory perception of pain
• REACT:111047 – Calcium signaling pathway
Protein Summary
TRPM3 is a 1,555-amino acid protein with six transmembrane domains and a pore-forming loop. It functions as a homotetrameric non-selective cation channel. The N-terminal region contains multiple ankyrin repeats involved in channel regulation. The channel is activated by heat (>40°C), the neurosteroid pregnenolone sulfate, and hypotonic cell swelling. TRPM3 is expressed in sensory neurons, pancreatic beta cells, and the brain. It contributes to nociception, insulin secretion, and lens homeostasis. Mutations cause neurodevelopmental disorders, epilepsy, and cataracts.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRPM3 Knockout HEK293 Cell Line | EDJ-KQ155 | Human | 80036 | Details Get a Quote |
| TRPM3 Knockout HeLa Cell Line | EDJ-KQ40589 | Human | 80036 | Details Get a Quote |
| TRPM3 Knockout A-549 Cell Line | EDJ-KQ65793 | Human | 80036 | Details Get a Quote |
| TRPM3 Knockout HCT 116 Cell Line | EDJ-KQ74215 | Human | 80036 | Details Get a Quote |
