Gene: ATG7

Alternate names for this Gene: APG7-LIKE|APG7L|GSA7

Gene Summary: This gene encodes an E1-like activating enzyme that is essential for autophagy and cytoplasmic to vacuole transport. The encoded protein is also thought to modulate p53-dependent cell cycle pathways during prolonged metabolic stress. It has been associated with multiple functions, including axon membrane trafficking, axonal homeostasis, mitophagy, adipose differentiation, and hematopoietic stem cell maintenance. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 3

Location in Chromosome : 3p25.3

Description of this Gene: autophagy related 7

Type of Gene: protein-coding

rs6781726 in ATG7 gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2606736 in ATG7 gene and High density lipoprotein measurement PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.

rs6442260 in ATG7 gene and Major Depressive Disorder PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

rs2606736 in ATG7 gene and Serum HDL cholesterol measurement PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

rs2594992 in ATG7 gene and Systolic Pressure PMID 27618452 2016 The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.

PMID 27618447 2016 Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

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.

rs1546231 in ATG7 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30575882 2018 Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.