Gene: SMG6

Alternate names for this Gene: C17orf31|EST1A|SMG-6|hSMG5/7a

Gene Summary: This gene encodes a component of the telomerase ribonucleoprotein complex responsible for the replication and maintenance of chromosome ends. The encoded protein also plays a role in the nonsense-mediated mRNA decay (NMD) pathway, providing the endonuclease activity near the premature translation termination codon that is needed to initiate NMD. Alternatively spliced transcript variants encoding distinct protein isoforms have been described.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.3

Description of this Gene: SMG6 nonsense mediated mRNA decay factor

Type of Gene: protein-coding

rs16951879 in SMG6 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2281727 in SMG6 gene and Body mass index PMID 28892062 2017 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.

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

PMID 26426971 2015 The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.

PMID 25673413 2015 Genetic studies of body mass index yield new insights for obesity biology.

rs2873195 in SMG6 gene and Bone Density PMID 29304378 2018 Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.

rs4790881 in SMG6 gene and Bone Mineral Density Test PMID 22504420 2012 Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.

rs2281727 in SMG6 gene and CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

rs17761723 in SMG6 gene and Cannabis use PMID 30150663 2018 GWAS of lifetime cannabis use reveals new risk loci, genetic overlap with psychiatric traits, and a causal influence of schizophrenia.

rs113348108 in SMG6 gene and Coronary Artery Disease PMID 28714975 2017 Association analyses based on false discovery rate implicate new loci for coronary artery disease.

PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

PMID 26343387 2015 A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.

PMID 24262325 2014 Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.

rs1231206 in SMG6 gene and Coronary heart disease PMID 21378990 2011 Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.

PMID 24262325 2014 Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.

rs216199 in SMG6 gene and Eczema PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs17761864 in SMG6 gene and Esophageal Neoplasms PMID 22960999 2012 Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.

rs9894634 in SMG6 gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs216205 in SMG6 gene and Mitral Valve Prolapse Syndrome PMID 26301497 2015 Genetic association analyses highlight biological pathways underlying mitral valve prolapse.

rs370221402 in SMG6 gene and Monocyte count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs370221402 in SMG6 gene and Monocyte count result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs35087650 in SMG6 gene and Osteoarthritis, Knee PMID 30664745 2019 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.

rs216191 in SMG6 gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs7216638 in SMG6 gene and Schizophrenia PMID 29483656 2018 Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.

rs4790870 in SMG6 gene and Smoking PMID 30643258 2019 Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.

rs17761864 in SMG6 gene and Squamous cell carcinoma PMID 22960999 2012 Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.

rs12952051 in SMG6 gene and Systolic Pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

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

rs216195 in SMG6 gene and Tonometry PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.

PMID 29235454 2017 A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure.

rs3760231 in SMG6 gene and White Blood Cell Count procedure 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.