Gene: CD226

Alternate names for this Gene: DNAM-1|DNAM1|PTA1|TLiSA1

Gene Summary: This gene encodes a glycoprotein expressed on the surface of NK cells, platelets, monocytes and a subset of T cells. It is a member of the Ig-superfamily containing 2 Ig-like domains of the V-set. The protein mediates cellular adhesion of platelets and megakaryocytic cells to vascular endothelial cells. The protein also plays a role in megakaryocytic cell maturation. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 18

Location in Chromosome : 18q22.2

Description of this Gene: CD226 molecule

Type of Gene: protein-coding

rs1790588 in CD226 gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1790588 in CD226 gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1790588 in CD226 gene and AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4891786 in CD226 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs66504140 in CD226 gene and Ankylosing spondylitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs763361 in CD226 gene and Autoantibody measurement PMID 21829393 2011 Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.

rs1790588 in CD226 gene and Autoimmune Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1788097 in CD226 gene and Cholangitis, Sclerosing PMID 27992413 2017 Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease.

PMID 23603763 2013 Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs66504140 in CD226 gene and Crohn Disease PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs1615504 in CD226 gene and Diabetes Mellitus, Insulin-Dependent PMID 25751624 2015 Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.

PMID 17554260 2007 Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.

PMID 21829393 2011 Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.

rs1788103 in CD226 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs8099412 in CD226 gene and Hypothyroidism PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs17207042 in CD226 gene and Inflammatory Bowel Diseases PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

PMID 23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

rs763361 in CD226 gene and Multiple Sclerosis PMID 22190364 2011 Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.

rs35977166 in CD226 gene and Platelet Component Distribution Width Measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs12969657 in CD226 gene and Platelet mean volume determination (procedure) PMID 22139419 2011 New gene functions in megakaryopoiesis and platelet formation.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 22423221 2012 A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.

PMID 19820697 2009 A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.

rs1788097 in CD226 gene and Primary sclerosing cholangitis PMID 23603763 2013 Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

rs66504140 in CD226 gene and Psoriasis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs1788105 in CD226 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2469434 in CD226 gene and Rheumatoid Arthritis PMID 24390342 2014 Genetics of rheumatoid arthritis contributes to biology and drug discovery.

rs4891786 in CD226 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs66504140 in CD226 gene and Ulcerative Colitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

rs1790963 in CD226 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.