TRPM7 Chromosome 15
Transient receptor potential cation channel subfamily M member 7
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What This Gene Does
This gene belongs to the melastatin subfamily of transient receptor potential family of ion channels. The protein encoded by this gene is both an ion channel and a serine/threonine protein kinase. The kinase activity is essential for the ion channel function, which serves to increase intracellular calcium levels and to help regulate magnesium ion homeostasis. The encoded protein is involved in cytoskeletal organization, cell adhesion, cell migration and organogenesis. Defects in this gene are a cause of amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam. The gene may also be associated with defects of cardiac function. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
"Transient receptor potential cation channels|Alpha kinases"
Locus Type
gene with protein product
Location
15q21.2
Ensembl
ENSG00000092439
Associated Conditions (4)
Juvenile amyotrophic lateral sclerosis
TRPM7-related disorder
Intestinal hypomagnesemia 1
See cases
Key Variants
RS8042919
Conflicting classifications of pathogenicity
Juvenile amyotrophic lateral sclerosis, TRPM7-related disorder, Juvenile amyotrophic lateral sclerosis
Health Risk
RS2059709974
Pathogenic
Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
Health Risk
RS2140998768
Pathogenic
Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
Health Risk
RS2542301829
Pathogenic
See cases, See cases
Health Risk
RS2542317547
Pathogenic
See cases, See cases
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS8042919 | Health Risk | Conflicting classifications of pathogenicity | Juvenile amyotrophic lateral sclerosis, TRPM7-related disorder, Juvenile amyotrophic lateral sclerosis |
| RS2059709974 | Health Risk | Pathogenic | Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1 |
| RS2140998768 | Health Risk | Pathogenic | Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1 |
| RS2542301829 | Health Risk | Pathogenic | See cases, See cases |
| RS2542317547 | Health Risk | Pathogenic | See cases, See cases |