Gene: ATP2B1

Alternate names for this Gene: PMCA1|PMCA1kb

Gene Summary: The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified.

Gene is located in Chromosome: 12

Location in Chromosome : 12q21.33

Description of this Gene: ATPase plasma membrane Ca2+ transporting 1

Type of Gene: protein-coding

rs11105352 in ATP2B1 gene and Alcohol consumption PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

rs12579302 in ATP2B1 gene and Atrial Fibrillation PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs11105354 in ATP2B1 gene and Blood Pressure PMID 22100073 2011 Blood pressure loci identified with a gene-centric array.

PMID 21572416 2011 Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.

PMID 24001895 2013 Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pulse pressure loci.

PMID 21909110 2011 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.

rs12579302 in ATP2B1 gene and Body mass index PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs11105380 in ATP2B1 gene and Calcium measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs2681492 in ATP2B1 gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12579302 in ATP2B1 gene and Cerebrovascular accident PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs2681472 in ATP2B1 gene and Coronary Artery Disease PMID 28714975 2017 Association analyses based on false discovery rate implicate new loci for coronary artery disease.

PMID 26343387 2015 A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.

PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs12579302 in ATP2B1 gene and Coronary heart disease PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

PMID 22751097 2012 Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.

rs12579302 in ATP2B1 gene and Diabetes PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs12579302 in ATP2B1 gene and Diabetes Mellitus PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs11105352 in ATP2B1 gene and Diastolic blood pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

PMID 27618452 2016 The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.

PMID 28348047 2017 Genome-Wide Association Study Meta-Analysis of Long-Term Average Blood Pressure in East Asians.

PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

PMID 29455858 2018 A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.

PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 21572416 2011 Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.

PMID 25249183 2015 Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.

PMID 26390057 2015 Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation.

PMID 28739976 2017 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.

PMID 19430479 2009 Genome-wide association study of blood pressure and hypertension.

rs2681472 in ATP2B1 gene and Diastolic blood pressure measurement PMID 19430479 2009 Genome-wide association study of blood pressure and hypertension.

PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

rs12579302 in ATP2B1 gene and Glucose measurement PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs12579302 in ATP2B1 gene and Heart failure PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs12579302 in ATP2B1 gene and Hematocrit procedure PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs12579302 in ATP2B1 gene and High density lipoprotein measurement PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs11105364 in ATP2B1 gene and Hypertensive disease PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

PMID 28273873 2017 Interaction between Single Nucleotide Polymorphism and Urinary Sodium, Potassium, and Sodium-Potassium Ratio on the Risk of Hypertension in Korean Adults.

PMID 31513605 2019 Structural equation modeling for hypertension and type 2 diabetes based on multiple SNPs and multiple phenotypes.

PMID 25249183 2015 Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.

PMID 19430479 2009 Genome-wide association study of blood pressure and hypertension.

rs12579302 in ATP2B1 gene and Malignant Neoplasms PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs11105352 in ATP2B1 gene and Mean blood pressure PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

PMID 28348047 2017 Genome-Wide Association Study Meta-Analysis of Long-Term Average Blood Pressure in East Asians.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 26390057 2015 Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation.

PMID 24001895 2013 Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pulse pressure loci.

PMID 21909110 2011 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.

PMID 27618448 2016 Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.

rs2681472 in ATP2B1 gene and Myocardial Infarction PMID 26343387 2015 A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.

rs12579302 in ATP2B1 gene and Serum total cholesterol measurement PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs11105352 in ATP2B1 gene and Systolic Pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

PMID 27618452 2016 The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.

PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

PMID 29455858 2018 A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.

PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

PMID 28348047 2017 Genome-Wide Association Study Meta-Analysis of Long-Term Average Blood Pressure in East Asians.

PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 25249183 2015 Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.

PMID 19396169 2009 For systolic blood pressure, the most compelling association involved chromosome 12q21 and variants near the ATP2B1 gene (rs17249754, P = 1.3 x 10(-7)).

PMID 21572416 2011 Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.

PMID 26390057 2015 Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation.

PMID 27618447 2016 Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

PMID 28739976 2017 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.

PMID 19430479 2009 Genome-wide association study of blood pressure and hypertension.

rs17249754 in ATP2B1 gene and Systolic blood pressure measurement PMID 21909115 2011 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

PMID 19430479 2009 Genome-wide association study of blood pressure and hypertension.

rs12579302 in ATP2B1 gene and Triglycerides measurement PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs17249754 in ATP2B1 gene and Waist-Hip Ratio PMID 19396169 2009 A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.

rs12579302 in ATP2B1 gene and elevated blood glucose level PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.