TRPM6 Chromosome 9
Transient receptor potential cation channel subfamily M member 6
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What This Gene Does
This gene is predominantly expressed in the kidney and colon, and encodes a protein containing an ion channel domain and a protein kinase domain. It is crucial for magnesium homeostasis, and plays an essential role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Mutations in this gene are associated with hypomagnesemia with secondary hypocalcemia. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Apr 2010]
Gene Info
Gene Group
"Transient receptor potential cation channels|Alpha kinases"
Locus Type
gene with protein product
Location
9q21.13
Ensembl
ENSG00000119121
Associated Conditions (3)
Intestinal hypomagnesemia 1
TRPM6-related disorder
Inborn genetic diseases
Key Variants
RS113003674
Conflicting classifications of pathogenicity
Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
Health Risk
RS114160749
Conflicting classifications of pathogenicity
Health Risk
RS1252685523
Conflicting classifications of pathogenicity
Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
Health Risk
RS138880537
Conflicting classifications of pathogenicity
Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
Health Risk
RS140835112
Conflicting classifications of pathogenicity
Intestinal hypomagnesemia 1, TRPM6-related disorder, Intestinal hypomagnesemia 1
Health Risk
RS141014694
Conflicting classifications of pathogenicity
Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
Health Risk
RS141809291
Conflicting classifications of pathogenicity
Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
Health Risk
RS142043309
Conflicting classifications of pathogenicity
TRPM6-related disorder, Inborn genetic diseases, TRPM6-related disorder
Health Risk
RS142946646
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143164660
Conflicting classifications of pathogenicity
Intestinal hypomagnesemia 1, TRPM6-related disorder, Intestinal hypomagnesemia 1
Health Risk
RS1472189003
Conflicting classifications of pathogenicity
Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
Health Risk
RS147635290
Conflicting classifications of pathogenicity
Intestinal hypomagnesemia 1, Inborn genetic diseases, Intestinal hypomagnesemia 1
Health Risk
All Variants (71)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1587520094 | Health Risk | Pathogenic | Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1 |
| RS1587522206 | Health Risk | Pathogenic | Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1 |
| RS1587538382 | Health Risk | Pathogenic | Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1 |
| RS1587543641 | Health Risk | Pathogenic | Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1 |
| RS1828760353 | Health Risk | Pathogenic | Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1 |
| RS200734621 | Health Risk | Pathogenic | — |
| RS2117943840 | Health Risk | Pathogenic | Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1 |
| RS2118734279 | Health Risk | Pathogenic | — |
| RS2118927777 | Health Risk | Pathogenic | Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1 |
| RS2489897834 | Health Risk | Pathogenic | Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1 |
| RS2489966877 | Health Risk | Pathogenic | Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1 |
| RS2489968539 | Health Risk | Pathogenic | Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1 |
| RS2490067570 | Health Risk | Pathogenic | Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1 |
| RS2490067666 | Health Risk | Pathogenic | — |
| RS2490078901 | Health Risk | Pathogenic | — |
| RS2490207160 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS371363425 | Health Risk | Pathogenic | Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1 |
| RS773117784 | Health Risk | Pathogenic | Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1 |
| RS778418403 | Health Risk | Pathogenic | Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1 |
| RS869025214 | Health Risk | Pathogenic | Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1 |
| RS121912624 | Health Risk | Pathogenic/Likely pathogenic | Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1 |