Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
959
Gene name Gene Name - the full gene name approved by the HGNC.
CD40 ligand
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CD40LG
Synonyms (NCBI Gene) Gene synonyms aliases
CD154, CD40L, HIGM1, IGM, IMD3, T-BAM, TNFSF5, TRAP, gp39, hCD40L
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HIGM1
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq26.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs104894768 G>T Pathogenic Coding sequence variant, missense variant
rs104894769 T>A,C Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs104894771 G>C Pathogenic Coding sequence variant, missense variant
rs104894772 A>G Pathogenic Coding sequence variant, missense variant
rs104894773 T>A,C Likely-benign, pathogenic Coding sequence variant, synonymous variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005463 hsa-miR-146a-5p ELISA, Luciferase reporter assay, qRT-PCR, Western blot 21236257
MIRT663024 hsa-miR-5681a HITS-CLIP 23824327
MIRT663023 hsa-miR-6867-5p HITS-CLIP 23824327
MIRT663022 hsa-miR-3152-3p HITS-CLIP 23824327
MIRT663021 hsa-miR-4455 HITS-CLIP 23824327
Transcription factors
Transcription factor Regulation Reference
FOS Unknown 11160303
GATA3 Activation 18719603
JUND Unknown 11160303
NFKB1 Activation 11751888
NFKB1 Unknown 11160303;11529914;21243522
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002637 Process Regulation of immunoglobulin production IEA
GO:0005125 Function Cytokine activity IEA
GO:0005164 Function Tumor necrosis factor receptor binding IEA
GO:0005174 Function CD40 receptor binding IBA 21873635
GO:0005174 Function CD40 receptor binding IMP 31331973
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300386 11935 ENSG00000102245
Protein
UniProt ID P29965
Protein name CD40 ligand (CD40-L) (T-cell antigen Gp39) (TNF-related activation protein) (TRAP) (Tumor necrosis factor ligand superfamily member 5) (CD antigen CD154) [Cleaved into: CD40 ligand, membrane form; CD40 ligand, soluble form (sCD40L)]
Protein 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 produc
PDB 1ALY , 1I9R , 3LKJ , 3QD6 , 6BRB , 6W9G , 7SGM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00229 TNF 138 261 TNF(Tumour Necrosis Factor) family Domain
Tissue specificity TISSUE SPECIFICITY: Specifically expressed on activated CD4+ T-lymphocytes.
Sequence
MIETYNQTSPRSAATGLPISMKIFMYLLTVFLITQMIGSALFAVYLHRRLDKIEDERNLH
EDFVFMKTIQRCNTGERSLSLLNCEEIKSQFEGFVKDIMLNKEETKKENSFEMQKGDQNP
QIAAHVISEASSKTTSVLQWAEKGYYTMSNNLVTLENGKQLTVKRQGLYYIYAQVTFCSN
REASSQAPFIASLCLKSPGRFERILLRAANTHSSAKPCGQQSIHLGGVFELQPGASVFVN
VTDPSQVSHGTGFTSFGLLKL
Sequence length 261
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Cytokine-cytokine receptor interaction
NF-kappa B signaling pathway
Cell adhesion molecules
T cell receptor signaling pathway
Intestinal immune network for IgA production
Malaria
Toxoplasmosis
Asthma
Autoimmune thyroid disease
Systemic lupus erythematosus
Allograft rejection
Primary immunodeficiency
Viral myocarditis
Lipid and atherosclerosis
  Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
TNFR2 non-canonical NF-kB pathway
TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis, Amyotrophic Lateral Sclerosis, Guam Form rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733
View all (171 more)
20348957
Anemia Anemia, Hemolytic rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Autoimmune diseases Autoimmune Diseases rs869025224 15494542
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537 16368305
Unknown
Disease term Disease name Evidence References Source
Hyperimmunoglobulin m syndrome Hyperimmunoglobulin M syndrome 24402618, 19575287, 17351759 ClinVar
Hyper-IgM Syndrome hyper-IgM syndrome type 1 GenCC
Associations from Text Mining
Disease Name Relationship Type References
Achondroplasia and Swiss type agammaglobulinemia Associate 8097258
Acidosis Associate 23144702
Acute Coronary Syndrome Associate 11711459, 31183392, 34239024
Acute Coronary Syndrome Stimulate 14769218
Acute Disease Associate 20978895, 21733938
Adenocarcinoma Associate 36307410
Adenocarcinoma of Lung Associate 23994887, 38011277
Alcoholism Stimulate 35371104
Allergic Fungal Sinusitis Associate 37325657
Alzheimer Disease Stimulate 9394977