CD40LG

Gene Information
 
Gene Symbol
CD40LG
 
Aliases
CD154, CD40L, HIGM1, IGM, IMD3, T-BAM, TNFSF5, TRAP, gp39, hCD40L
 
Entrez Gene ID
959
 
Gene Name
CD40 ligand
 
Chromosomal Location
Xq26
 
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)
 
GeneCards ID
 
UniGene
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0006954 Biological process Inflammatory response IDA 9468137
GO:0007159 Biological process Leukocyte cell-cell adhesion NAS 9468137
GO:0030168 Biological process Platelet activation IDA 9468137
GO:0032735 Biological process Positive regulation of interleukin-12 production IDA 9922218
GO:0042100 Biological process B cell proliferation IDA 8605945
Protein Information
 
Protein Name
CD40 ligand, soluble form
 
Function
Mediates B-cell proliferation in the absence of co-stimulus as well as IgE production in the presence of IL-4. Involved in immunoglobulin class switching| Release of soluble CD40L from platelets is partially regulated by GP IIb/IIIa, actin polymerization, and an matrix metalloproteinases (MMP) inhibitor-sensitive pathway
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00229 TNF TNF(Tumour Necrosis Factor) family
 
OMIM
 
Phenotype MIM ID

Associated Diseases

Diseases References
Polycystic ovary syndrome (PCOS) 18554599
   
References
 
Primary:

Polycystic ovary syndrome is associated with elevated plasma soluble CD40 ligand, a marker of coronary artery disease.

Oktem Mesut, Ozcimen Emel Ebru, Uckuyu Ayla, Esinler Ibrahim, Pamuk Baris, Bayraktar Nilufer, Kulaksizoglu Sevsen, Zeyneloglu Hulusi B
Department of Obstetrics and Gynecology, Baskent University School of Medicine, Ankara, Turkey. mesutoktem@hotmail.com
Fertil Steril. 2009 Jun;91(6):2545-50. doi: 10.1016/j.fertnstert.2008.03.039.
 
Supporting Literature:
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. 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
23564192
Impact of angiotensin II type 1 receptor gene polymorphism on insulin resistance in polycystic ovary syndrome. 
Clinical study 

 

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