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Gene : CD40 Homo sapiens

Name  ? CD40 molecule Cytological Location  20q13.12
Brief Description  CD40 molecule
Description  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]
  • synonyms:
  • CD40 molecule, TNF receptor superfamily member 5,
  • uc002xrg.2,
  • CD40,
  • TNFRSF5,
  • OTTHUMG00000033053,
  • tumor necrosis factor receptor superfamily, member 5,
  • NM_001250,
  • X60592,
  • HGNC:11919,
  • TNFRSF5,
  • Bp50,
  • p50,
  • CDW40,
  • Bp50,
  • p50
  • identifiers:
  • 958,
  • ENSG00000101017,
  • CD40

Genome feature

Region: gene ? Length: 11617  
Location: 20:46118242-46129858 Cyto location: 20q13.12


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Disease

1 Diseases

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3753 SN Ps

5 Cross References

20 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results