Gene: CD247

Alternate names for this Gene: CD3-ZETA|CD3H|CD3Q|CD3Z|IMD25|T3Z|TCRZ

Gene Summary: The protein encoded by this gene is T-cell receptor zeta, which together with T-cell receptor alpha/beta and gamma/delta heterodimers, and with CD3-gamma, -delta and -epsilon, forms the T-cell receptor-CD3 complex. The zeta chain plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. Low expression of the antigen results in impaired immune response. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1q24.2

Description of this Gene: CD247 molecule

Type of Gene: protein-coding

rs2056625 in CD247 gene and Adult onset asthma PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

PMID 31036433 2019 Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.

rs2988277 in CD247 gene and Allergic Reaction PMID 29083406 2017 Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.

rs1617333 in CD247 gene and Asthma PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs2056626 in CD247 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.

rs864537 in CD247 gene and Celiac Disease PMID 20190752 2010 Multiple common variants for celiac disease influencing immune gene expression.

rs1617333 in CD247 gene and Childhood asthma PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

rs1723022 in CD247 gene and Hypothyroidism PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2056626 in CD247 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.

rs704853 in CD247 gene and Lupus Erythematosus, Systemic PMID 22004975 2012 The association of CD247 with SLE in Asian populations was confirmed (rs704853: odds ratio [OR] = 0.

rs2949669 in CD247 gene and Respiratory Tract Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs864537 in CD247 gene and Rheumatoid Arthritis PMID 23143596 2012 High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis.

rs2056626 in CD247 gene and Systemic Scleroderma PMID 31672989 2019 GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways.

PMID 21750679 2011 Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.

PMID 20383147 2010 Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.