TRPM6

This gene is predominantly expressed in the kidney and colon, and encodes a protein containing an ion channel domain and a protein kinase domain. It is crucial for magnesium homeostasis, and plays an essential role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Mutations in this gene are associated with hypomagnesemia with secondary hypocalcemia. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Apr 2010]

Description

Transient receptor potential cation channel subfamily M member 6

Tissue specificity

Group enriched (brain, intestine)

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Kim et al 2014)
Transporters
Voltage-gated ion channels

Chromosome

9 (74722495 - 74888094)

Ensembl ID

ENSG00000119121  (ver. 103.38)

Orthologs

Mouse Trpm6: ENSMUSG00000024727

UniProt

Q9BX84

neXtProt

NX_Q9BX84

Human splice variants
Mouse splice variants

Protein structure