TRPM7
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
Transient receptor potential cation channel, subfamily M, member 7, also known as TRPM7, is a human gene encoding a protein of the same name.
Function
TRPs, mammalian homologs of the Drosophila transient receptor potential (trp) protein, are ion channels that are thought to mediate capacitative calcium entry into the cell. TRPM7 is a protein that is both an ion channel and a kinase. As a channel, it conducts calcium and monovalent cations to depolarize cells and increase intracellular calcium. As a kinase, it is capable of phosphorylating itself and other substrates. The kinase activity is necessary for channel function, as shown by its dependence on intracellular ATP and by the kinase mutants.{{cite web | title = Entrez Gene: TRPM7 transient receptor potential cation channel, subfamily M, member 7| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54822}}
Interactions
TRPM7 has been shown to interact with PLCB1{{cite journal | vauthors = Runnels LW, Yue L, Clapham DE | title = The TRPM7 channel is inactivated by PIP(2) hydrolysis | journal = Nat. Cell Biol. | volume = 4 | issue = 5 | pages = 329–36 | date = May 2002 | pmid = 11941371 | doi = 10.1038/ncb781 | s2cid = 21592843 }} and PLCB2.
Clinical relevance
Patients with pathogenic variants in the TRPM7 gene suffer from hypomagnesemia, seizures and developmental delay.{{cite journal | vauthors = Vargas-Poussou R, Claverie-Martin F, Prot-Bertoye C, Carotti V, van der Wijst J, Perdomo-Ramirez A, Fraga-Rodriguez GM, Hureaux M, Bos C, Latta F, Houillier P, Hoenderop JG, de Baaij JH | title = Possible role for rare TRPM7 variants in patients with hypomagnesaemia with secondary hypocalcaemia | journal = Nephrology Dialysis Transplantation | volume = 38 | issue = 3 | pages = 679–690 | year = 2023 | pmid = 35561741 | doi = 10.1093/ndt/gfac182 | pmc = 9976740 }}{{cite journal | vauthors = Bosman W, Butler KM, Chang CA, Ganapathi M, Guzman E, Latta F, Chung WK, Claverie-Martin F, Davis JM, Hoenderop JG, de Baaij JH | title = Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay | journal = Clinical Kidney Journal | volume = sfae211 | year = 2024 | issue = 8 | pages = sfae211 | doi = 10.1093/ckj/sfae211 | doi-access = free | pmid = 39099563 | pmc = 11295107 }}
Defects in this gene have been associated with magnesium deficiency in human microvascular endothelial cells.{{cite journal | vauthors = Baldoli E, Maier JA | title = Silencing TRPM7 mimics the effects of magnesium deficiency in human microvascular endothelial cells | journal = Angiogenesis | volume = 15 | issue = 1 | pages = 47–57 | year = 2012 | pmid = 22183257 | doi = 10.1007/s10456-011-9242-0 | s2cid = 16274084 }}
See also
References
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Further reading
{{refbegin | 2}}
- {{cite journal | vauthors = Chubanov V, Gudermann T, Schlingmann KP | title = Essential role for TRPM6 in epithelial magnesium transport and body magnesium homeostasis | journal = Pflügers Arch. | volume = 451 | issue = 1 | pages = 228–34 | year = 2005 | pmid = 16075242 | doi = 10.1007/s00424-005-1470-y | s2cid = 6037803 }}
- {{cite journal | vauthors = Clapham DE, Julius D, Montell C, Schultz G | title = International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels | journal = Pharmacol. Rev. | volume = 57 | issue = 4 | pages = 427–50 | year = 2005 | pmid = 16382100 | doi = 10.1124/pr.57.4.6 | s2cid = 17936350 }}
- {{cite book | vauthors = Penner R, Fleig A | title = Transient Receptor Potential (TRP) Channels | chapter = The Mg2+ and Mg(2+)-nucleotide-regulated channel-kinase TRPM7 | series = Handbook of Experimental Pharmacology | volume = 179 | issue = 179 | pages = 313–28 | year = 2007 | pmid = 17217066 | doi = 10.1007/978-3-540-34891-7_19 | pmc = 5663631 | isbn = 978-3-540-34889-4 }}
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External links
- {{MeshName|TRPM7+protein,+human}}
{{NLM content}}
{{PDB Gallery|geneid=54822}}
{{Ion channels|g4}}
{{Transient receptor potential channel modulators}}
{{membrane-protein-stub}}