TRPV6: Transient Receptor Potential Cation Channel Subfamily V Member 6
Calcium-selective ion channel involved in calcium homeostasis and linked to hypercalcemia and cancer
Gene Information Card
| Symbol | TRPV6 |
|---|---|
| Full Name | Transient Receptor Potential Cation Channel Subfamily V Member 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q34 |
| NCBI Gene ID | 55503 ncbi.nlm.nih.gov/gene/55503 |
| Ensembl ID | ENSG00000165125 |
| UniProt ID | Q9H1D0 |
| OMIM ID | 606680 |
| HGNC ID | 14006 |
| Aliases | ECAC2, CAT1, CaT1, CaT-L, TRPV6 |
Description
TRPV6 encodes a calcium-selective transient receptor potential cation channel that plays a key role in calcium absorption in the intestine and calcium reabsorption in the kidney. The channel is activated by low intracellular calcium levels and is involved in calcium homeostasis. Gain-of-function mutations cause familial hypercalcemia and nephrolithiasis. Overexpression is observed in several cancers, including prostate, breast, and colon cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypercalcemia, familial, with nephrolithiasis | Gain-of-function mutations increase calcium influx | OMIM #616963 |
| Prostate cancer | Overexpression of TRPV6 promotes cell proliferation and invasion | COSMIC; PMID: 16951136 |
| Breast cancer | Elevated TRPV6 expression correlates with poor prognosis | PMID: 22952854 |
| Colon cancer | TRPV6 upregulation linked to calcium signaling dysregulation | PMID: 23361055 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 12.5 | High |
| Kidney | 8.3 | Medium |
| Prostate | 6.1 | Medium |
| Breast | 2.4 | Low |
| Colon | 3.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 | 15.2 | Intestinal epithelial cell line |
| LNCaP | 9.8 | Prostate cancer cell line |
| MCF-7 | 5.4 | Breast cancer cell line |
| HT-29 | 4.1 | Colon cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.196G>A (p.Val66Met) | Missense | Rare | Gain-of-function; increased calcium influx |
| c.206C>T (p.Thr69Ile) | Missense | Rare | Gain-of-function; associated with hypercalcemia |
| c.557C>T (p.Pro186Leu) | Missense | Rare | Likely gain-of-function |
| c.1123G>A (p.Gly375Arg) | Missense | Rare | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in TRPV6.
Gain of Function (GOF)
Missense mutations (e.g., p.Val66Met, p.Thr69Ile) increase channel activity, leading to hypercalcemia and nephrolithiasis.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005262 – calcium channel activity | • GO:0006816 – calcium ion transport |
| • GO:0016021 – integral component of membrane | • GO:0070588 – calcium ion transmembrane transport |
| • GO:0005886 – plasma membrane |
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• Mineral absorption (KEGG: hsa04978)
Protein Summary
TRPV6 is a 725-amino acid protein with six transmembrane domains and a pore-forming loop. It functions as a homotetrameric calcium-selective channel. The protein is highly expressed in the apical membrane of intestinal epithelial cells and renal tubules. Its activity is regulated by intracellular calcium levels via calmodulin binding. Gain-of-function mutations lead to constitutive calcium entry, causing hypercalcemia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRPV6 Knockout Caco-2 Cell Line | EDJ-KQ09 | Human | 55503 | Details Get a Quote |
| TRPV6 Knockout HEK293 Cell Line | EDC07599 | Human | 55503 | Details Get a Quote |
| TRPV6 Knockout BeWo Cell Line | EDJ-KZ64 | Human | 55503 | Details Get a Quote |
| TRPV6 Knockout HeLa Cell Line | EDJ-KQ56589 | Human | 55503 | Details Get a Quote |
| TRPV6 Knockout A-549 Cell Line | EDJ-KQ65088 | Human | 55503 | Details Get a Quote |
| TRPV6 Knockout HCT 116 Cell Line | EDJ-KQ73534 | Human | 55503 | Details Get a Quote |
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