Gene: CD40

Alternate names for this Gene: Bp50|CDW40|TNFRSF5|p50

Gene Summary: This gene is a member of the TNF-receptor superfamily. The encoded protein is a receptor on antigen-presenting cells of the immune system and is essential for mediating a broad variety of immune and inflammatory responses including T cell-dependent immunoglobulin class switching, memory B cell development, and germinal center formation. AT-hook transcription factor AKNA is reported to coordinately regulate the expression of this receptor and its ligand, which may be important for homotypic cell interactions. Adaptor protein TNFR2 interacts with this receptor and serves as a mediator of the signal transduction. The interaction of this receptor and its ligand is found to be necessary for amyloid-beta-induced microglial activation, and thus is thought to be an early event in Alzheimer disease pathogenesis. Mutations affecting this gene are the cause of autosomal recessive hyper-IgM immunodeficiency type 3 (HIGM3). Multiple alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported.

Gene is located in Chromosome: 20

Location in Chromosome : 20q13.12

Description of this Gene: CD40 molecule

Type of Gene: protein-coding

rs1883832 in CD40 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.

rs4810485 in CD40 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.

rs1883832 in CD40 gene and Cholangitis, Sclerosing PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs1883832 in CD40 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.

rs1883832 in CD40 gene and Hepatitis B, Chronic PMID 25802187 2015 Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.

rs28931586 in CD40 gene and Hyper-IgM Immunodeficiency Syndrome, Type 3 PMID 11675497 2001 Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.

PMID 26545377 2016 Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients.

rs4810485 in CD40 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.

rs11569302 in CD40 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs4810485 in CD40 gene and Lupus Erythematosus, Systemic PMID 28714469 2017 Transancestral mapping and genetic load in systemic lupus erythematosus.

rs4810485 in CD40 gene and Multiple Sclerosis PMID 24076602 2013 Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

PMID 22190364 2011 Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.

rs1883832 in CD40 gene and Psoriasis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs1883832 in CD40 gene and Rheumatoid Arthritis PMID 24532676 2015 High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci.

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

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

PMID 18794853 2008 Common variants at CD40 and other loci confer risk of rheumatoid arthritis.

PMID 20453842 2010 Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.

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

rs11569302 in CD40 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs11569302 in CD40 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs11569302 in CD40 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1883832 in CD40 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.