Gene: CTLA4

Alternate names for this Gene: ALPS5|CD|CD152|CELIAC3|CTLA-4|GRD4|GSE|IDDM12

Gene Summary: This gene is a member of the immunoglobulin superfamily and encodes a protein which transmits an inhibitory signal to T cells. The protein contains a V domain, a transmembrane domain, and a cytoplasmic tail. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The membrane-bound isoform functions as a homodimer interconnected by a disulfide bond, while the soluble isoform functions as a monomer. Mutations in this gene have been associated with insulin-dependent diabetes mellitus, Graves disease, Hashimoto thyroiditis, celiac disease, systemic lupus erythematosus, thyroid-associated orbitopathy, and other autoimmune diseases.

Gene is located in Chromosome: 2

Location in Chromosome : 2q33.2

Description of this Gene: cytotoxic T-lymphocyte associated protein 4

Type of Gene: protein-coding

rs3087243 in CTLA4 gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3087243 in CTLA4 gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3087243 in CTLA4 gene and AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs231775 in CTLA4 gene and Alopecia Areata PMID 25608926 2015 Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci.

rs3087243 in CTLA4 gene and Autoantibody measurement PMID 21829393 2011 Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.

rs3087243 in CTLA4 gene and Autoimmune Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 21383967 2011 Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.

rs1553657378 in CTLA4 gene and CTLA4 Haploinsufficiency PMID 29077208 2018 Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics.

rs11571316 in CTLA4 gene and Diabetes Mellitus, Insulin-Dependent PMID 21980299 2011 A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.

PMID 18978792 2008 Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.

PMID 19430480 2009 Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.

PMID 25751624 2015 Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.

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

rs3087243 in CTLA4 gene and Hypothyroidism PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

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

rs3087243 in CTLA4 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.

rs3087243 in CTLA4 gene and Multiple Sclerosis PMID 22190364 2011 Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.

rs3087243 in CTLA4 gene and Rheumatoid Arthritis PMID 20453842 2010 Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.

PMID 24390342 2014 Genetics of rheumatoid arthritis contributes to biology and drug discovery.

PMID 22446963 2012 Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.

PMID 30423114 2019 Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.

PMID 24532676 2015 High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci.

PMID 23143596 2012 High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis.

rs231774 in CTLA4 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.