TRPM7 transient receptor potential cation channel subfamily M member 7
Gene ID: 54822, updated on 11-Apr-2024Gene type: protein coding
Also known as: CHAK; CHAK1; ALSPDC; LTRPC7; LTrpC-7; TRP-PLIK
- See all available tests in GTR for this gene
- Go to complete Gene record for TRPM7
- Go to Variation Viewer for TRPM7 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Amyotrophic lateral sclerosis-parkinsonism-dementia complex | See labs |
| Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. GeneReviews: Not available | |
| Impact of ancestry and common genetic variants on QT interval in African Americans. GeneReviews: Not available |
Genomic context
- Location:
- 15q21.2
- Sequence:
- Chromosome: 15; NC_000015.10 (50557158..50686797, complement)
- Total number of exons:
- 39
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TRPM7 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- TRPM7 database
- Variation ViewerRelated Variants
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