Gene: ATP1B2

Alternate names for this Gene: AMOG

Gene Summary: The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 2 subunit. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.1

Description of this Gene: ATPase Na+/K+ transporting subunit beta 2

Type of Gene: protein-coding

rs1642762 in ATP1B2 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs55831773 in ATP1B2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs72829446 in ATP1B2 gene and Dihydrotestosterone Assay PMID 22936694 2012 Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men.

rs1642764 in ATP1B2 gene and Squamous cell carcinoma of esophagus PMID 25129146 2014 Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.

rs72829446 in ATP1B2 gene and Testosterone measurement PMID 22936694 2012 Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men.

rs72829446 in ATP1B2 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.