TRPM7

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

Transient receptor potential cation channel, subfamily M, member 7, also known as TRPM7, is a human gene encoding a protein of the same name.

AliasesTRPM7, ALSPDC, CHAK, CHAK1, LTRPC7, LTrpC-7, TRP-PLIK, transient receptor potential cation channel subfamily M member 7
End50,686,797 bp[1]
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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]
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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.[5]

Interactions

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

Clinical relevance

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

References

Further reading

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