GENE REFERENCE / HGNC:17995

TRPM6

transient receptor potential cation channel subfamily M member 6

protein-coding gene9q21.13Gene information

What does this gene do?

The TRPM6 gene provides instructions for making a protein that acts as a channel, which allows charged atoms (ions) of magnesium (Mg²⁺) to flow into cells; the channel may also allow small amounts of calcium ions (Ca²⁺) to pass through cells. Magnesium is involved in many cell processes, including production of cellular energy, maintenance of DNA building blocks (nucleotides), protein production, and cell growth and death. Additionally, Mg²⁺ is needed for the production of a substance called parathyroid hormone that regulates blood calcium levels. Magnesium and calcium are also required for the normal functioning of nerve cells that control muscle movement (motor neurons).

The TRPM6 channel is embedded in the membrane of epithelial cells that line the large intestine, structures in the kidneys known as distal convoluted tubules, the lungs, and the testes in males. When the body needs additional Mg²⁺, the TRPM6 channel allows it to be absorbed in the intestine and filtered from the fluids that pass through the kidneys by the distal convoluted tubules. When the body has sufficient or too much Mg²⁺, the TRPM6 channel does not filter out the Mg²⁺ from fluids but allows the ion to be released from the kidney cells into the urine. The channel also helps to regulate Ca²⁺, but to a lesser degree.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2015-01.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 1,045
Submissions for variants in or overlapping this gene: 1,463
Submissions explicitly reporting this gene: 1,393
Alleles reported pathogenic / likely pathogenic: 80
VariationIDs with uncertain significance: 517
VariationIDs with conflicting classifications: 41

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about TRPM6?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 80 alleles in TRPM6 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in TRPM6.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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