Gene: EIF2AK2

Alternate names for this Gene: EIF2AK1|LEUDEN|PKR|PPP1R83|PRKR

Gene Summary: The protein encoded by this gene is a serine/threonine protein kinase that is activated by autophosphorylation after binding to dsRNA. The activated form of the encoded protein can phosphorylate translation initiation factor EIF2S1, which in turn inhibits protein synthesis. This protein is also activated by manganese ions and heparin. Three transcript variants encoding two different isoforms have been found for this gene.

Gene is located in Chromosome: 2

Location in Chromosome : 2p22.2

Description of this Gene: eukaryotic translation initiation factor 2 alpha kinase 2

Type of Gene: protein-coding

rs2254958 in EIF2AK2 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.

rs2254958 in EIF2AK2 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.