Gene: SERPINA2

Alternate names for this Gene: ARGS|ATR|PIL|SERPINA2P|psiATR

Gene Summary: This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. The encoded intracellular glycoprotein is localized at the endoplasmic reticulum. This gene is a polymorphic pseudogene, with the non-functional allele being predominant in some populations. Some individuals, as represented by the reference genome allele, contain a 2kb coding region deletion and a start code mutation.

Gene is located in Chromosome: 14

Location in Chromosome : 14q32.13

Description of this Gene: serpin family A member 2 (gene/pseudogene)

Type of Gene: protein-coding

rs112635299 in SERPINA2 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs112635299 in SERPINA2 gene and C-reactive protein measurement PMID 30388399 2018 Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.

rs112635299 in SERPINA2 gene and Child Development Disorders, Pervasive PMID 30804558 2019 Identification of common genetic risk variants for autism spectrum disorder.

rs112635299 in SERPINA2 gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs112635299 in SERPINA2 gene and Forced expiratory volume function PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

rs112635299 in SERPINA2 gene and Protein measurement PMID 23696881 2013 Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation.

rs112635299 in SERPINA2 gene and response to bronchodilator PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.