Gene: COG5

Alternate names for this Gene: CDG2I|GOLTC1|GTC90

Gene Summary: The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. The encoded protein is organized with conserved oligomeric Golgi complex components 6, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants. Mutations in this gene result in congenital disorder of glycosylation type 2I.

Gene is located in Chromosome: 7

Location in Chromosome : 7q22.3

Description of this Gene: component of oligomeric golgi complex 5

Type of Gene: protein-coding

rs62483627 in COG5 gene and Atrial Fibrillation PMID 29892015 2018 Multi-ethnic genome-wide association study for atrial fibrillation.

rs1554464495 in COG5 gene and COG5 congenital disorder of glycosylation PMID 23228021 2012 COG5-CDG: expanding the clinical spectrum.

rs112370447 in COG5 gene and Coronary Artery Disease PMID 28714975 2017 Association analyses based on false discovery rate implicate new loci for coronary artery disease.

rs3815148 in COG5 gene and Degenerative polyarthritis PMID 20112360 2010 The C allele of rs3815148 on chromosome 7q22 (minor allele frequency 23%; intron 12 of the COG5 gene) was associated with a 1.14-fold increased risk (95% confidence interval 1.09-1.19) of knee and/or hand OA (P = 8 x 10(-8)) and also with a 30% increased risk of knee OA progression (95% confidence interval 1.03-1.64) (P = 0.03).

rs6979198 in COG5 gene and Duration of sleep PMID 30804565 2019 Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways.

rs12154818 in COG5 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs2712199 in COG5 gene and Low density lipoprotein cholesterol measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs112665932 in COG5 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs112665932 in COG5 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.