Transient Receptor Potential Cation Channel, Subfamily M, Member 6

Alternative Names

  • TRPM6
  • Channel Kinase 2
  • CHAK2
  • Melastatin-Related TRP Cation Channel 6
Back to search Result
OMIM Number

607009

NCBI Gene ID

140803

Uniprot ID

Q9BX84

Length

165,427 bases

No. of Exons

41

No. of isoforms

7

Protein Name

Transient receptor potential cation channel subfamily M member 6

Molecular Mass

231708 Da

Amino Acid Count

2022

Genomic Location

chr9:74,722,494-74,887,920

Gene Map Locus
9q21.13

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_001177310.1:c.2983dupUnited Arab EmiratesNC_000009.12:g.74782777dupLikely PathogenicHypomagnesemia 1, IntestinalNM_001177310.1:c.2983dup; NP_001170781.1:p.Ser995PhefsTer17
© CAGS 2021. All rights reserved.