Entity Details

Primary name TRPM6
Entity type gene
Source Source Link

Details

PrimaryID140803
RefseqGeneNG_017036
SymbolTRPM6
Nametransient receptor potential cation channel subfamily M member 6
Chromosome9
Location9q21.13
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-01-11
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsTRPM6_HUMAN

GO terms

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GOName
GO:0005261 cation channel activity
GO:0005262 calcium channel activity
GO:0005524 ATP binding
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0009636 response to toxic substance
GO:0016324 apical plasma membrane
GO:0031526 brush border membrane
GO:0046872 metal ion binding
GO:0051262 protein tetramerization
GO:0070588 calcium ion transmembrane transport
GO:0098655 cation transmembrane transport
GO:0106310 protein serine kinase activity
GO:0106311 protein threonine kinase activity

Diseases

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Disease IDSourceNameDescription
602014 OMIMHypomagnesemia 1 (HOMG1)A disorder due to a primary defect in intestinal magnesium absorption. It is characterized by low levels of serum magnesium alongside with a normal renal magnesium secretion, secondary hypocalcemia and calcinocis. Affected individuals show neurologic symptoms of hypomagnesemic hypocalcemia, including seizures and muscle spasms, during infancy. Hypocalcemia is secondary to parathyroid failure resulting from magnesium deficiency. Untreated, the disorder may be fatal or may result in neurological damage. The disease is caused by variants affecting the gene represented in this entry.

Interactions

5 interactions