|
|
Gene Symbol |
CD40LG |
|
Aliases |
CD154, CD40L, HIGM1, IGM, IMD3, T-BAM, TNFSF5, TRAP, gp39, hCD40L |
|
Entrez Gene ID |
|
|
Gene Name |
CD40 ligand |
|
Chromosomal Location |
Xq26.3 |
|
HGNC ID |
|
|
Summary |
The protein encoded by this gene is expressed on the surface of T cells. It regulates B cell function by engaging CD40 on the B cell surface. A defect in this gene results in an inability to undergo immunoglobulin class switch and is associated with hyper-IgM syndrome. [provided by RefSeq, Jul 2008]
|
|
RefSeq DNA |
|
|
RefSeq mRNA |
|
|
e!Ensembl
|
Protein Information |
|
Protein Name |
CD40 ligand, CD40 antigen ligand, CD40-L, T-B cell-activating molecule, T-cell antigen Gp39, TNF-related activation protein, tumor necrosis factor (ligand) superfamily member 5 |
|
Function |
Cytokine that acts as a ligand to CD40/TNFRSF5 (PubMed:1280226, PubMed:31331973). Costimulates T-cell proliferation and cytokine production (PubMed:8617933). Its cross-linking on T-cells generates a costimulatory signal which enhances the production of IL4 and IL10 in conjunction with the TCR/CD3 ligation and CD28 costimulation (PubMed:8617933). Induces the activation of NF-kappa-B (PubMed:15067037, PubMed:31331973). Induces the activation of kinases MAPK8 and PAK2 in T-cells (PubMed:15067037). Induces tyrosine phosphorylation of isoform 3 of CD28 (PubMed:15067037). Mediates B-cell proliferation in the absence of co-stimulus as well as IgE production in the presence of IL4 (By similarity). Involved in immunoglobulin class switching (By similarity). .; [CD40 ligand, soluble form]: Acts as a ligand for integrins, specifically ITGA5:ITGB1 and ITGAV:ITGB3; both integrins and the CD40 receptor are required for activation of CD40-CD40LG signaling, which have cell-type dependent effects, such as B-cell activation, NF-kappa-B signaling and anti-apoptotic signaling. |
|
|
|
|
|
UniProt |
|
|
PDB |
|
|
|
|
Interactions |
| |
STRING |
MINT |
IntAct |
ENSP00000361405 |
P14780 |
P14780 |
|
| |
View interactions
|
|
| |
Associated Diseases
Disease group | Disease Name | References |
Cardiovascular Diseases |
Arteriosclerosis |
|
Endocrine System Diseases |
PCOS |
|
Immune System Diseases |
Hyper IgM syndrome |
7678782, 7717401, 7679801, 10484640, 28492532, 19575287, 8094231, 17351759, 1385114, 25541662, 8889581, 16169277, 18955577, 7679206, 9150729, 15067037, 8589998, 9605317, 8550833, 15611226, 24402618 |
Autoimmune Diseases |
|
Nervous System Diseases |
Lateral Sclerosis |
|
Reproductive disorders |
Preeclampsia |
|
Respiratory Tract Diseases |
Pneumonia |
|
|
References |
|
|
|
PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
|
DHEAS,homocysteine,hsCRP,E2 |
|
|
Rotterdam criteria |
Direct
|
Turkey-31 PCOS and 31 controls |
Polycystic ovary syndrome is associated with elevated levels of sCD40L and homocysteine. |
|
|
|
|