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CD40

CD40

The information on this page was automatically extracted from online scientific databases.

What is the official name of the CD40 gene?

The official name of this gene is “CD40 molecule, TNF receptor superfamily member 5.”

CD40 is the gene's official symbol. The CD40 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the CD40 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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. [provided by RefSeq, Nov 2014]

From UniProtThis link leads to a site outside Genetics Home Reference.:

Receptor for TNFSF5/CD40LG. Transduces TRAF6- and MAP3K8-mediated signals that activate ERK in macrophages and B cells, leading to induction of immunoglobulin secretion.

How are changes in the CD40 gene related to health conditions?

Genetics Home Reference provides information about these conditions associated with changes in the CD40 gene:
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the CD40 gene's known or predicted involvement in human disease.

Immunodeficiency with hyper-IgM 3 (HIGM3): A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the CD40 gene.
  • Immunodeficiency with hyper IgM type 3
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the CD40 gene and its association with health conditions.
OMIM
Number
Title

Where is the CD40 gene located?

Cytogenetic Location: 20q12-q13.2

Molecular Location on chromosome 20: base pairs 46,118,259 to 46,129,744

The CD40 gene is located on the long (q) arm of chromosome 20 between positions 12 and 13.2.

The CD40 gene is located on the long (q) arm of chromosome 20 between positions 12 and 13.2.

More precisely, the CD40 gene is located from base pair 46,118,259 to base pair 46,129,744 on chromosome 20.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about CD40?

You and your healthcare professional may find the following resources about CD40 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the CD40 gene or gene products?

  • Bp50
  • CDW40
  • p50
  • TNFRSF5

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding CD40?

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: December 16, 2014