Entity Details

Primary name CD40LG
Entity type gene
Source Source Link

Details

PrimaryID959
RefseqGeneNG_007280
SymbolCD40LG
NameCD40 ligand
ChromosomeX
LocationXq26.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-09-20
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsCD40L_HUMAN

GO terms

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GOName
GO:0002637 regulation of immunoglobulin production
GO:0005125 cytokine activity
GO:0005164 tumor necrosis factor receptor binding
GO:0005174 CD40 receptor binding
GO:0005178 integrin binding
GO:0005615 extracellular space
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006954 inflammatory response
GO:0007159 leukocyte cell-cell adhesion
GO:0007229 integrin-mediated signaling pathway
GO:0007257 obsolete activation of JUN kinase activity
GO:0009897 external side of plasma membrane
GO:0009986 cell surface
GO:0016021 integral component of membrane
GO:0023035 CD40 signaling pathway
GO:0030168 platelet activation
GO:0030183 B cell differentiation
GO:0031295 T cell costimulation
GO:0032733 positive regulation of interleukin-10 production
GO:0032735 positive regulation of interleukin-12 production
GO:0032753 positive regulation of interleukin-4 production
GO:0033209 tumor necrosis factor-mediated signaling pathway
GO:0042100 B cell proliferation
GO:0042102 positive regulation of T cell proliferation
GO:0043066 negative regulation of apoptotic process
GO:0045190 isotype switching
GO:0050776 regulation of immune response
GO:0051092 positive regulation of NF-kappaB transcription factor activity
GO:2000353 positive regulation of endothelial cell apoptotic process

Diseases

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Disease IDSourceNameDescription
308230 OMIMImmunodeficiency with hyper-IgM, type 1 (HIGM1)Immunoglobulin isotype switch defect characterized by elevated concentrations of serum IgM and decreased amounts of all other isotypes. Affected males present at an early age (usually within the first year of life) recurrent bacterial and opportunistic infections, including Pneumocystis carinii pneumonia and intractable diarrhea due to cryptosporidium infection. Despite substitution treatment with intravenous immunoglobulin, the overall prognosis is rather poor, with a death rate of about 10% before adolescence. The disease is caused by variants affecting the gene represented in this entry.