transient receptor potential cation channel subfamily M member 6; channel kinase 2; melastatin-related TRP cation channel 6 (TRPM6, CHAK2)

Function

• ion channel & serine/threonine protein kinase
• role in Mg+2 homeostasis
  • epithelial Mg+2 transport
  • active Mg+2 absorption in the gut & kidney
• forms heterodimers with TRPM7
• TRPM6 may requires the presence of TRPM7 to be targeted to the cell membrane
• interacts (via kinase domain) with GNB2L1/RACK1

Structure

• in the C-terminal section; belongs to the protein kinase superfamily, alpha-type protein kinase family, ALPK subfamily
• in the N-terminal section; belongs to the transient receptor (TC 1.A.4) family, LTrpC subfamily, TRPM6 sub-subfamily
• contains 1 alpha-type protein kinase domain

Compartment

membrane

Alternative splicing

• named isoforms=7
• some isoform(s) of the type M6-kinase lack the ion channel region

Expression

• expressed in kidney & colon
• isoform TRPM6a & isoform TRPM6b, are coexpressed with TRPM7 in kidney, & testis, & are also found in several cell lines of lung origin
• isoform TRPM6c is detected only in testis & in H510 small cell lung carcinoma cells

Pathology

• defects in TRPM6 are the cause of hypomagnesemia type 1 (hypomagnesemia with secondary hypocalcemia)

More general terms

• transmembrane 6 protein
• ion channel
• serine/threonine kinase

Additional terms

• hypomagnesemia type 1; hypomagnesemia with secondary hypocalcemia (HSH)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=140803
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:140803
• OMIM: https://mirror.omim.org/entry/602014
• OMIM: https://mirror.omim.org/entry/607009
• UniProt: http://www.uniprot.org/uniprot/Q9BX84.html