Gene: ATP2B2

Alternate names for this Gene: PMCA2|PMCA2a|PMCA2i

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 2. Alternatively spliced transcript variants encoding different isoforms have been identified.

Gene is located in Chromosome: 3

Location in Chromosome : 3p25.3

Description of this Gene: ATPase plasma membrane Ca2+ transporting 2

Type of Gene: protein-coding

rs7633661 in ATP2B2 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs735931 in ATP2B2 gene and Bipolar Disorder PMID 31043756 2019 Genome-wide association study identifies 30 loci associated with bipolar disorder.

rs703912 in ATP2B2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs9879311 in ATP2B2 gene and Child Development Disorders, Pervasive PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

rs75316710 in ATP2B2 gene and Impaired cognition PMID 26252872 2015 Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aβ1-42 Level.

rs9880149 in ATP2B2 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs4234503 in ATP2B2 gene and Respiratory Function Tests PMID 22837378 2012 Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.

rs7633661 in ATP2B2 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs9879311 in ATP2B2 gene and Schizophrenia PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

rs6807064 in ATP2B2 gene and Serum albumin measurement PMID 19043545 2008 Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.

rs6807064 in ATP2B2 gene and blood phenylalanine measurement by Guthrie microbiologic assay PMID 19043545 2008 Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.