Gene: EIF2AK4

Alternate names for this Gene: GCN2|PVOD2

Gene Summary: This gene encodes a member of a family of kinases that phosphorylate the alpha subunit of eukaryotic translation initiation factor-2 (EIF2), resulting in the downregulaton of protein synthesis. The encoded protein responds to amino acid deprivation by binding uncharged transfer RNAs. It may also be activated by glucose deprivation and viral infection. Mutations in this gene have been found in individuals suffering from autosomal recessive pulmonary venoocclusive-disease-2.

Gene is located in Chromosome: 15

Location in Chromosome : 15q15.1

Description of this Gene: eukaryotic translation initiation factor 2 alpha kinase 4

Type of Gene: protein-coding

rs4432245 in EIF2AK4 gene and Body mass index PMID 24827717 2014 Two adjacent SNPs (rs4432245 & rs711906) in the eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4) gene were significantly associated with BMI (P=6.38×10⁻⁶ & 4.39×10⁻⁶, FDR q=0.048).

rs4432245 in EIF2AK4 gene and Body mass index procedure PMID 24827717 2014 Two adjacent SNPs (rs4432245 & rs711906) in the eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4) gene were significantly associated with BMI (P=6.38×10⁻⁶ & 4.39×10⁻⁶, FDR q=0.048).

rs8042456 in EIF2AK4 gene and Dehydroepiandrosterone sulfate measurement (procedure) PMID 31169883 2019 Genetic Association Study of Eight Steroid Hormones and Implications for Sexual Dimorphism of Coronary Artery Disease.

rs937213 in EIF2AK4 gene and Diastolic blood pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

rs937213 in EIF2AK4 gene and Endometrial Carcinoma PMID 27135401 2016 Five endometrial cancer risk loci identified through genome-wide association analysis.

PMID 30093612 2018 Identification of nine new susceptibility loci for endometrial cancer.

rs28714278 in EIF2AK4 gene and Finding of Mean Corpuscular Hemoglobin PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4432245 in EIF2AK4 gene and Finding of body mass index PMID 24827717 2014 Genome wide association study: searching for genes underlying body mass index in the Chinese.

rs1085307439 in EIF2AK4 gene and PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE PMID 24292273 2014 EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension.

PMID 24135949 2014 EIF2AK4 mutations in pulmonary capillary hemangiomatosis.

PMID 25512148 2015 A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.

rs12050884 in EIF2AK4 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

rs12050884 in EIF2AK4 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12050884 in EIF2AK4 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

rs12050884 in EIF2AK4 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs3736290 in EIF2AK4 gene and Systolic Pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.