Gene: TRPM6

Alternate names for this Gene: CHAK2|HMGX|HOMG|HOMG1|HSH

Gene Summary: 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9q21.13

Description of this Gene: transient receptor potential cation channel subfamily M member 6

Type of Gene: protein-coding

rs944857 in TRPM6 gene and ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO PMID 31219150 2019 Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial.

rs944857 in TRPM6 gene and AIDS, PROGRESSION TO PMID 31219150 2019 Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial.

rs944857 in TRPM6 gene and HIV-1, RESISTANCE TO PMID 31219150 2019 Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial.

rs944857 in TRPM6 gene and HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO PMID 31219150 2019 Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial.

rs121912625 in TRPM6 gene and Hypomagnesemia 1, Intestinal PMID 14976260 2004 Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia.

PMID 12032568 2002 Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family.

PMID 23942199 2014 New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia.

PMID 16107578 2005 Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia.

PMID 26813946 2016 Against all odds: blended phenotypes of three single-gene defects.

rs11144134 in TRPM6 gene and Magnesium measurement PMID 20700443 2010 Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.

PMID 26058915 2015 Genetic loci for serum magnesium among African-Americans and gene-environment interaction at MUC1 and TRPM6 in European-Americans: the Atherosclerosis Risk in Communities (ARIC) study.

rs514209 in TRPM6 gene and Schizophrenia PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

rs944857 in TRPM6 gene and Viral Load result PMID 31219150 2019 Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial.