Gene: PPA2

Alternate names for this Gene: HSPC124|SCFAI|SCFI|SID6-306

Gene Summary: The protein encoded by this gene is localized to the mitochondrion, is highly similar to members of the inorganic pyrophosphatase (PPase) family, and contains the signature sequence essential for the catalytic activity of PPase. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.

Gene is located in Chromosome: 4

Location in Chromosome : 4q24

Description of this Gene: inorganic pyrophosphatase 2

Type of Gene: protein-coding

rs148389026 in PPA2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs77928427 in PPA2 gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs72954323 in PPA2 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2636699 in PPA2 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

rs146013446 in PPA2 gene and SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED PMID 27523597 2016 Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.

rs139076647 in PPA2 gene and SUDDEN CARDIAC FAILURE, INFANTILE PMID 27523597 2016 Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.

PMID 27523598 2016 Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.