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TRPM7

From Wikipedia, the free encyclopedia
TRPM7
Identifiers
AliasesTRPM7, ALSPDC, CHAK, CHAK1, LTRPC7, LTrpC-7, TRP-PLIK, transient receptor potential cation channel subfamily M member 7
External IDsOMIM: 605692; MGI: 1929996; HomoloGene: 9774; GeneCards: TRPM7; OMA:TRPM7 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001301212
NM_017672

NM_001164325
NM_021450

RefSeq (protein)

NP_001288141
NP_060142

NP_001157797
NP_067425

Location (UCSC)Chr 15: 50.55 – 50.69 MbChr 2: 126.63 – 126.72 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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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.[5]

Interactions

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TRPM7 has been shown to interact with PLCB1[6] and PLCB2.[6]

Clinical relevance

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Patients with pathogenic variants in the TRPM7 gene suffer from hypomagnesemia, seizures and developmental delay.[7][8]


Defects in this gene have been associated with magnesium deficiency in human microvascular endothelial cells.[9]

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000092439Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027365Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: TRPM7 transient receptor potential cation channel, subfamily M, member 7".
  6. ^ a b Runnels LW, Yue L, Clapham DE (May 2002). "The TRPM7 channel is inactivated by PIP(2) hydrolysis". Nat. Cell Biol. 4 (5): 329–36. doi:10.1038/ncb781. PMID 11941371. S2CID 21592843.
  7. ^ 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 (2023). "Possible role for rare TRPM7 variants in patients with hypomagnesaemia with secondary hypocalcaemia". Nephrology Dialysis Transplantation. 38 (3): 679–690. doi:10.1093/ndt/gfac182. PMC 9976740. PMID 35561741.
  8. ^ Bosman W, Butler KM, Chang CA, Ganapathi M, Guzman E, Latta F, Chung WK, Claverie-Martin F, Davis JM, Hoenderop JG, de Baaij JH (2024). "Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay". Clinical Kidney Journal. sfae211 (8): sfae211. doi:10.1093/ckj/sfae211. PMC 11295107. PMID 39099563.
  9. ^ Baldoli E, Maier JA (2012). "Silencing TRPM7 mimics the effects of magnesium deficiency in human microvascular endothelial cells". Angiogenesis. 15 (1): 47–57. doi:10.1007/s10456-011-9242-0. PMID 22183257. S2CID 16274084.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.