Gene: SMG9

Alternate names for this Gene: C19orf61|F17127_1|HBMS

Gene Summary: This gene encodes a regulatory subunit of the SMG1 complex, which plays a critical role in nonsense-mediated mRNA decay (NMD). Binding of the encoded protein to the SMG1 complex kinase scaffold protein results in the inhibition of its kinase activity. Mutations in this gene cause a multiple congenital anomaly syndrome in human patients, characterized by brain malformation, congenital heart disease and other features.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.31

Description of this Gene: SMG9 nonsense mediated mRNA decay factor

Type of Gene: protein-coding

rs869312741 in SMG9 gene and Abnormality of cardiovascular system morphology PMID 27018474 2016 Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.

rs869312741 in SMG9 gene and Brainstem dysplasia PMID 27018474 2016 Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.

rs346532 in SMG9 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs869312741 in SMG9 gene and Dysmorphic facies PMID 27018474 2016 Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.

rs869312741 in SMG9 gene and Global developmental delay PMID 27018474 2016 Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.

rs61387190 in SMG9 gene and Lymphocyte Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs61387190 in SMG9 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs61387190 in SMG9 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.