Gene: ATP12A

Alternate names for this Gene: ATP1AL1|H-K-ATPase|HK

Gene Summary: The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This gene encodes a catalytic subunit of the ouabain-sensitive H+/K+ -ATPase that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for potassium absorption in various tissues. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 13

Location in Chromosome : 13q12.12|13q12.1-q12.3

Description of this Gene: ATPase H+/K+ transporting non-gastric alpha2 subunit

Type of Gene: protein-coding

rs55641580 in ATP12A gene and Diastolic blood pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

rs55641580 in ATP12A gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.