TRPV5
Transient Receptor Potential Cation Channel Subfamily V Member 5
Gene Information Card
| Symbol | TRPV5 |
|---|---|
| Full Name | Transient Receptor Potential Cation Channel Subfamily V Member 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q34 |
| NCBI Gene ID | 56302 ncbi.nlm.nih.gov/gene/56302 |
| Ensembl ID | ENSG00000127415 |
| UniProt ID | Q9NQA5 |
| OMIM ID | 606679 |
| HGNC ID | 14082 |
| Aliases | ECAC1, CaT2, CAT2 |
Description
TRPV5 encodes a member of the transient receptor potential (TRP) family of ion channels. This protein functions as a calcium-selective channel primarily expressed in the kidney, where it plays a critical role in calcium reabsorption and maintenance of calcium homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypercalciuria, idiopathic | Loss of TRPV5 function reduces renal calcium reabsorption, leading to increased urinary calcium excretion. | PMID: 19213841 |
| Nephrolithiasis (kidney stones) | Impaired TRPV5-mediated calcium transport contributes to stone formation. | PMID: 19213841 |
| Osteoporosis | Altered calcium homeostasis due to TRPV5 dysfunction may affect bone mineral density. | PMID: 19213841 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Small intestine | 1.2 | Low |
| Pancreas | 0.8 | Low |
| Prostate | 0.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.0 | Not expressed endogenously |
| HK-2 (kidney proximal tubule) | 8.3 | Moderate expression |
| Caco-2 (intestinal) | 1.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.196C>T (p.Arg66Cys) | Missense | <0.01% | Reduced channel activity |
| c.1129G>A (p.Gly377Ser) | Missense | <0.01% | Impaired calcium transport |
| c.1573C>T (p.Arg525Trp) | Missense | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Arg66Cys and p.Gly377Ser reduce or abolish calcium channel activity, leading to hypercalciuria.
Gain of Function (GOF)
No gain-of-function mutations have been reported in TRPV5.
Dominant Negative (DN)
No dominant-negative mutations have been described for TRPV5.
View complete mutation data：
Gene Ontology (GO)
| • calcium channel activity (GO:0005262) | • calcium ion transport (GO:0006816) |
| • integral component of membrane (GO:0016021) | • calcium ion transmembrane transport (GO:0070588) |
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• Vitamin D metabolism and calcium homeostasis
Protein Summary
TRPV5 is a 729-amino acid protein with six transmembrane domains, forming a calcium-selective ion channel. It is predominantly expressed in the distal convoluted tubule and connecting tubule of the kidney, where it mediates apical calcium entry. The channel is regulated by hormones such as parathyroid hormone and 1,25-dihydroxyvitamin D3.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRPV5 Knockout Caco-2 Cell Line | EDJ-KQ08 | Human | 56302 | Details Get a Quote |
| TRPV5 Knockout HEK293 Cell Line | EDJ-KQ12077 | Human | 56302 | Details Get a Quote |
| TRPV5 Knockout HeLa Cell Line | EDJ-KQ56733 | Human | 56302 | Details Get a Quote |
| TRPV5 Knockout A-549 Cell Line | EDJ-KQ65238 | Human | 56302 | Details Get a Quote |
| TRPV5 Knockout HCT 116 Cell Line | EDJ-KQ73677 | Human | 56302 | Details Get a Quote |
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