Gene: PAPPA2

Alternate names for this Gene: PAPP-A2|PAPP-E|PAPPE|PLAC3

Gene Summary: This gene encodes a member of the pappalysin family of metzincin metalloproteinases. The encoded protein cleaves insulin-like growth factor-binding protein 5 and is thought to be a local regulator of insulin-like growth factor (IGF) bioavailability. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 1

Location in Chromosome : 1q25.2

Description of this Gene: pappalysin 2

Type of Gene: protein-coding

rs6689901 in PAPPA2 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.

rs10913213 in PAPPA2 gene and Age at menarche PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10913200 in PAPPA2 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs1044299 in PAPPA2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

PMID 25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs7515586 in PAPPA2 gene and Cerebrovascular accident PMID 22941190 2012 Common variants at 6p21.1 are associated with large artery atherosclerotic stroke.

rs201111080 in PAPPA2 gene and Glucose tolerance test PMID 29093273 2017 Genetic determinants of circulating GIP and GLP-1 concentrations.

rs1325598 in PAPPA2 gene and Height PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

rs6689901 in PAPPA2 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.

rs4507975 in PAPPA2 gene and Venous Thromboembolism PMID 23509962 2013 A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.

rs1044299 in PAPPA2 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.