Gene: EIF2AK3

Alternate names for this Gene: PEK|PERK|WRS

Gene Summary: The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2, leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of global protein synthesis. This protein is thought to modulate mitochondrial function. It is a type I membrane protein located in the endoplasmic reticulum (ER), where it is induced by ER stress caused by malfolded proteins. Mutations in this gene are associated with Wolcott-Rallison syndrome.

Gene is located in Chromosome: 2

Location in Chromosome : 2p11.2

Description of this Gene: eukaryotic translation initiation factor 2 alpha kinase 3

Type of Gene: protein-coding

rs11681299 in EIF2AK3 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 25282103 2014 Defining the role of common variation in the genomic and biological architecture of adult human height.

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

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

rs11684404 in EIF2AK3 gene and Height PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

PMID 21194676 2011 Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.

rs7571971 in EIF2AK3 gene and Progressive supranuclear palsy PMID 21685912 2011 Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.

rs7571971 in EIF2AK3 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs121908569 in EIF2AK3 gene and Wolcott-Rallison syndrome PMID 10932183 2000 EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome.

PMID 26380986 2015 Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.