Gene: ATG5
Alternate names for this Gene: APG5|APG5-LIKE|APG5L|ASP|SCAR25|hAPG5
Gene Summary: The protein encoded by this gene, in combination with autophagy protein 12, functions as an E1-like activating enzyme in a ubiquitin-like conjugating system. The encoded protein is involved in several cellular processes, including autophagic vesicle formation, mitochondrial quality control after oxidative damage, negative regulation of the innate antiviral immune response, lymphocyte development and proliferation, MHC II antigen presentation, adipocyte differentiation, and apoptosis. Several transcript variants encoding different protein isoforms have been found for this gene.
Gene is located in Chromosome: 6
Location in Chromosome : 6q21
Description of this Gene: autophagy related 5
Type of Gene: protein-coding
rs9372120 in
ATG5 gene and
Allergic Reaction
PMID 29083406 2017 Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.
rs9372120 in
ATG5 gene and
Asthma
PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.
rs548234 in
ATG5 gene and
Autoimmune Diseases
PMID 21383967 2011 Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
rs9372120 in
ATG5 gene and
Childhood asthma
PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.
rs3804333 in
ATG5 gene and
Eosinophil count procedure
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs548234 in
ATG5 gene and
Immune System Diseases
PMID 21383967 2011 Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
rs2299864 in
ATG5 gene and
Lupus Erythematosus, Systemic
PMID 28714469 2017 Transancestral mapping and genetic load in systemic lupus erythematosus.
PMID 23740937 2013 A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
PMID 19838193 2009 Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.
PMID 18204446 2008 Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.
PMID 26502338 2015 Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.
PMID 27399966 2016 Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus.
PMID 19838195 2009 A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.
PMID 27193031 2017 A combined large-scale meta-analysis identifies COG6 as a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus.
PMID 30573655 2019 Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.
rs9372120 in
ATG5 gene and
Multiple Myeloma
PMID 27363682 2016 Genome-wide association study identifies multiple susceptibility loci for multiple myeloma.
rs548234 in
ATG5 gene and
Multiple Sclerosis
PMID 22190364 2011 Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
rs802791 in
ATG5 gene and
Myositis
PMID 30573655 2019 Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.
rs538557 in
ATG5 gene and
Narcolepsy
PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.
rs6568431 in
ATG5 gene and
Rheumatoid Arthritis
PMID 27193031 2017 A combined large-scale meta-analysis identifies COG6 as a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus.
PMID 30573655 2019 Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.
PMID 30423114 2019 Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.
PMID 24390342 2014 Genetics of rheumatoid arthritis contributes to biology and drug discovery.
rs9373839 in
ATG5 gene and
Scleroderma, Limited
PMID 24387989 2014 Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis.
rs3827644 in
ATG5 gene and
Systemic Scleroderma
PMID 23740937 2013 A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
PMID 28314753 2017 Transethnic meta-analysis identifies GSDMA and PRDM1 as susceptibility genes to systemic sclerosis.
PMID 31672989 2019 GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways.
PMID 30573655 2019 Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.
PMID 24387989 2014 Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis.
rs9373834 in
ATG5 gene and
White Blood Cell Count procedure
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.